1
Somatic mutations identified by target sequencing of HCC cell lines Cell line Gene symbol Transcript Chromosome Start (hg19) End (hg19) Strand Ref Alt Mutation Exon Mutated reads Total coverage Frequency Amino acid change Mutation type Consequences HuH-7 ADAM29 NM_014269 Chr4 175898967 175898967 + C T c.2291C>T Exon (5/5) 88 1,058 8.32 p.Thr764Ile Substitution Non-synonymous HuH-7 ADAM29 NM_014269 Chr4 175898968 175898968 + A G c.2292A>G Exon (5/5) 93 1,025 9.07 p.Thr764Thr Substitution Synonymous HuH-7 ADAM29 NM_014269 Chr4 175898971 175898971 + C T c.2295C>T Exon (5/5) 100 1,051 9.51 p.Pro765Pro Substitution Synonymous HuH-7 ADAM29 NM_014269 Chr4 175898983 175898983 + A T c.2307A>T Exon (5/5) 180 1,167 15.42 p.Gln769His Substitution Non-synonymous HuH-7 ADAM29 NM_014269 Chr4 175898988 175898988 + G A c.2312G>A Exon (5/5) 197 1,145 17.21 p.Arg771Gln Substitution Non-synonymous HuH-7 ADAM29 NM_014269 Chr4 175898990 175898990 + G T c.2314G>T Exon (5/5) 218 1,153 18.91 p.Val772Leu Substitution Non-synonymous HuH-7 ADAM29 NM_014269 Chr4 175898994 175898994 + T C c.2318T>C Exon (5/5) 253 1,191 21.24 p.Met773Thr Substitution Non-synonymous HuH-7 ADAM29 NM_014269 Chr4 175899001 175899001 + T C c.2325T>C Exon (5/5) 409 1,271 32.18 p.Ser775Ser Substitution Synonymous HuH-7 ADAM29 NM_014269 Chr4 175899075 175899075 + C T c.2399C>T Exon (5/5) 312 1,340 23.28 p.Thr800Ile Substitution Non-synonymous HuH-7 ADAM29 NM_014269 Chr4 175899076 175899076 + A G c.2400A>G Exon (5/5) 341 1,318 25.87 p.Thr800Thr Substitution Synonymous HuH-7 ADAM29 NM_014269 Chr4 175899079 175899079 + C T c.2403C>T Exon (5/5) 313 1,346 23.25 p.Pro801Pro Substitution Synonymous HuH-7 ADAM29 NM_014269 Chr4 175899088 175899088 + G T c.2412G>T Exon (5/5) 286 1,322 21.63 p.Arg804Ser Substitution Non-synonymous HuH-7 ADAM29 NM_014269 Chr4 175899091 175899091 + A T c.2415A>T Exon (5/5) 288 1,352 21.30 p.Gln805His Substitution Non-synonymous HuH-7 ADAM29 NM_014269 Chr4 175899102 175899102 + T C c.2426T>C Exon (5/5) 286 1,312 21.80 p.Met809Thr Substitution Non-synonymous HuH-7 ADAM29 NM_014269 Chr4 175899130 175899130 + G A c.2454G>A Exon (5/5) 103 1,181 8.72 p.Thr818Thr Substitution Synonymous HuH-7 ALK NM_004304 Chr2 29917737 29917737 G C c.931G>C Exon (3/29) 110 1,086 10.13 p.Arg311Gly Substitution Non-synonymous HuH-7 ALK NM_004304 Chr2 29917837 29917837 G A c.831G>A Exon (3/29) 373 1,099 33.94 p.Ser277Ser Substitution Synonymous HuH-7 ALK NM_004304 Chr2 29443617 29443617 C G c.3600C>G Exon (23/29) 727 1,120 64.91 p.Ala1200Ala Substitution Synonymous MHCC97L ALK NM_004304 Chr2 29940553 29940553 G T c.678G>T Exon (2/29) 476 1,374 34.64 p.Ser226Ser Substitution Synonymous HuH-7 AMER1 NM_152424 Chrx 63412115 63412117 GCT G c.1052GCT>G Exon (2/2) 744 852 87.32 Deletion Frameshift HuH-7 AMER1 NM_152424 Chrx 63412481 63412481 G A c.686G>A Exon (2/2) 433 843 51.36 p.Ala229Val Substitution Non-synonymous Hep3B AMPH NM_001635 Chr7 38475878 38475878 C G c.1128C>G Exon (12/21) 691 1,152 59.98 p.Met376Ile Substitution Non-synonymous Hep2.2.15 APC NM_001127511 Chr5 112154771 112154771 C A c.988C>A Exon (8/14) 373 1,311 28.45 p.Arg330Arg Substitution Synonymous HuH-7 APOB NM_000384 Chr2 21230263 21230263 C T c.9477C>T Exon (26/29) 821 1,213 67.68 p.Lys3159Lys Substitution Synonymous Hep3B APOB NM_000384 Chr2 21235375 21235375 G A c.4365G>A Exon (26/29) 749 750 99.87 p.Phe1455Phe Substitution Synonymous Hep3B APOB NM_000384 Chr2 21249682 21249682 G T c.2222G>T Exon (15/29) 429 433 99.08 p.Thr741Asn Substitution Non-synonymous Hep3B APOB NM_000384 Chr2 21260934 21260934 G A c.433G>A Exon (5/29) 536 537 99.81 p.Pro145Ser Substitution Non-synonymous MHCC97H APOB NM_000384 Chr2 21232369 21232369 C G c.7371C>G Exon (26/29) 23 443 5.19 p.Leu2457Leu Substitution Synonymous Hep2.2.15 APOB NM_000384 Chr2 21224925 21224925 C T c.13369C>T Exon (29/29) 620 1,281 48.40 p.Asp4457Asn Substitution Non-synonymous HepG2 APOB NM_000384 Chr2 21224925 21224925 C T c.13369C>T Exon (29/29) 662 1,876 35.29 p.Asp4457Asn Substitution Non-synonymous HuH-7 AQP7 NM_001170 Chr9 33385667 33385667 A G c.723A>G Exon (7/8) 143 651 21.97 p.Gly241Gly Substitution Synonymous HuH-7 AQP7 NM_001170 Chr9 33385690 33385690 G T c.700G>T Exon (7/8) 129 529 24.39 p.Arg234Ser Substitution Non-synonymous HuH-7 AQP7 NM_001170 Chr9 33385698 33385698 A G c.692A>G Exon (7/8) 111 481 23.08 p.Leu231Pro Substitution Non-synonymous HuH-7 AQP7 NM_001170 Chr9 33385709 33385709 C T c.681C>T Exon (7/8) 66 387 17.05 p.Pro227Pro Substitution Synonymous HuH-7 AQP7 NM_001170 Chr9 33385712 33385712 G A c.678G>A Exon (7/8) 64 354 18.08 p.Asn226Asn Substitution Synonymous HuH-7 AQP7 NM_001170 Chr9 33385733 33385733 C T c.657C>T Exon (7/8) 30 248 12.10 p.Met219Ile Substitution Non-synonymous HuH-7 AQP7 NM_001170 Chr9 33385740 33385740 A T c.650A>T Exon (7/8) 18 202 8.91 p.Leu217His Substitution Non-synonymous HuH-7 AQP7 NM_001170 Chr9 33385750 33385750 C T c.640C>T Exon (7/8) 16 162 9.88 p.Gly214Arg Substitution Non-synonymous HuH-7 AQP7 NM_001170 Chr9 33385771 33385771 C T c.619C>T Exon (7/8) 8 106 7.55 p.Gly207Ser Substitution Non-synonymous MHCC97L AQP7 NM_001170 Chr9 33385667 33385667 A G c.723A>G Exon (7/8) 144 699 20.60 p.Gly241Gly Substitution Synonymous MHCC97L AQP7 NM_001170 Chr9 33385690 33385690 G T c.700G>T Exon (7/8) 135 576 23.44 p.Arg234Ser Substitution Non-synonymous MHCC97L AQP7 NM_001170 Chr9 33385698 33385698 A G c.692A>G Exon (7/8) 123 530 23.21 p.Leu231Pro Substitution Non-synonymous MHCC97L AQP7 NM_001170 Chr9 33385709 33385709 C T c.681C>T Exon (7/8) 86 433 19.86 p.Pro227Pro Substitution Synonymous MHCC97L AQP7 NM_001170 Chr9 33385712 33385712 G A c.678G>A Exon (7/8) 76 405 18.77 p.Asn226Asn Substitution Synonymous MHCC97L AQP7 NM_001170 Chr9 33385733 33385733 C T c.657C>T Exon (7/8) 35 260 13.46 p.Met219Ile Substitution Non-synonymous MHCC97L AQP7 NM_001170 Chr9 33385740 33385740 A T c.650A>T Exon (7/8) 28 221 12.67 p.Leu217His Substitution Non-synonymous MHCC97L AQP7 NM_001170 Chr9 33385750 33385750 C T c.640C>T Exon (7/8) 18 174 10.34 p.Gly214Arg Substitution Non-synonymous MHCC97L AQP7 NM_001170 Chr9 33385771 33385771 C T c.619C>T Exon (7/8) 8 101 7.92 p.Gly207Ser Substitution Non-synonymous Hep3B AQP7 NM_001170 Chr9 33385667 33385667 A G c.723A>G Exon (7/8) 76 303 25.08 p.Gly241Gly Substitution Synonymous Hep3B AQP7 NM_001170 Chr9 33385690 33385690 G T c.700G>T Exon (7/8) 75 266 28.20 p.Arg234Ser Substitution Non-synonymous Hep3B AQP7 NM_001170 Chr9 33385698 33385698 A G c.692A>G Exon (7/8) 66 244 27.05 p.Leu231Pro Substitution Non-synonymous Hep3B AQP7 NM_001170 Chr9 33385709 33385709 C T c.681C>T Exon (7/8) 51 201 25.37 p.Pro227Pro Substitution Synonymous Hep3B AQP7 NM_001170 Chr9 33385712 33385712 G A c.678G>A Exon (7/8) 49 182 26.92 p.Asn226Asn Substitution Synonymous Hep3B AQP7 NM_001170 Chr9 33385733 33385733 C T c.657C>T Exon (7/8) 22 118 18.64 p.Met219Ile Substitution Non-synonymous MHCC97H AQP7 NM_001170 Chr9 33385667 33385667 A G c.723A>G Exon (7/8) 111 445 24.94 p.Gly241Gly Substitution Synonymous MHCC97H AQP7 NM_001170 Chr9 33385690 33385690 G T c.700G>T Exon (7/8) 98 374 26.20 p.Arg234Ser Substitution Non-synonymous MHCC97H AQP7 NM_001170 Chr9 33385698 33385698 A G c.692A>G Exon (7/8) 94 346 27.17 p.Leu231Pro Substitution Non-synonymous MHCC97H AQP7 NM_001170 Chr9 33385709 33385709 C T c.681C>T Exon (7/8) 63 278 22.66 p.Pro227Pro Substitution Synonymous MHCC97H AQP7 NM_001170 Chr9 33385712 33385712 G A c.678G>A Exon (7/8) 50 246 20.33 p.Asn226Asn Substitution Synonymous MHCC97H AQP7 NM_001170 Chr9 33385733 33385733 C T c.657C>T Exon (7/8) 27 157 17.20 p.Met219Ile Substitution Non-synonymous MHCC97H AQP7 NM_001170 Chr9 33385740 33385740 A T c.650A>T Exon (7/8) 26 142 18.31 p.Leu217His Substitution Non-synonymous MHCC97H AQP7 NM_001170 Chr9 33385750 33385750 C T c.640C>T Exon (7/8) 17 109 15.60 p.Gly214Arg Substitution Non-synonymous Hep2.2.15 AQP7 NM_001170 Chr9 33385667 33385667 A G c.723A>G Exon (7/8) 101 301 33.55 p.Gly241Gly Substitution Synonymous Hep2.2.15 AQP7 NM_001170 Chr9 33385690 33385690 G T c.700G>T Exon (7/8) 97 250 38.80 p.Arg234Ser Substitution Non-synonymous Hep2.2.15 AQP7 NM_001170 Chr9 33385698 33385698 A G c.692A>G Exon (7/8) 89 230 38.70 p.Leu231Pro Substitution Non-synonymous Hep2.2.15 AQP7 NM_001170 Chr9 33385709 33385709 C T c.681C>T Exon (7/8) 74 189 39.15 p.Pro227Pro Substitution Synonymous Hep2.2.15 AQP7 NM_001170 Chr9 33385712 33385712 G A c.678G>A Exon (7/8) 69 169 40.83 p.Asn226Asn Substitution Synonymous Hep2.2.15 AQP7 NM_001170 Chr9 33385733 33385733 C T c.657C>T Exon (7/8) 43 109 39.45 p.Met219Ile Substitution Non-synonymous HepG2 AQP7 NM_001170 Chr9 33385667 33385667 A G c.723A>G Exon (7/8) 128 330 38.79 p.Gly241Gly Substitution Synonymous HepG2 AQP7 NM_001170 Chr9 33385690 33385690 G T c.700G>T Exon (7/8) 121 274 44.16 p.Arg234Ser Substitution Non-synonymous HepG2 AQP7 NM_001170 Chr9 33385698 33385698 A G c.692A>G Exon (7/8) 112 248 45.16 p.Leu231Pro Substitution Non-synonymous HepG2 AQP7 NM_001170 Chr9 33385709 33385709 C T c.681C>T Exon (7/8) 88 209 42.11 p.Pro227Pro Substitution Synonymous HepG2 AQP7 NM_001170 Chr9 33385712 33385712 G A c.678G>A Exon (7/8) 76 188 40.43 p.Asn226Asn Substitution Synonymous HepG2 AQP7 NM_001170 Chr9 33385733 33385733 C T c.657C>T Exon (7/8) 40 126 31.75 p.Met219Ile Substitution Non-synonymous HepG2 AQP7 NM_001170 Chr9 33385740 33385740 A T c.650A>T Exon (7/8) 29 104 27.88 p.Leu217His Substitution Non-synonymous SK-HEP-1 AQP7 NM_001170 Chr9 33385667 33385667 A G c.723A>G Exon (7/8) 75 209 35.89 p.Gly241Gly Substitution Synonymous SK-HEP-1 AQP7 NM_001170 Chr9 33385690 33385690 G T c.700G>T Exon (7/8) 73 169 43.20 p.Arg234Ser Substitution Non-synonymous SK-HEP-1 AQP7 NM_001170 Chr9 33385698 33385698 A G c.692A>G Exon (7/8) 63 148 42.57 p.Leu231Pro Substitution Non-synonymous SK-HEP-1 AQP7 NM_001170 Chr9 33385709 33385709 C T c.681C>T Exon (7/8) 56 129 43.41 p.Pro227Pro Substitution Synonymous SK-HEP-1 AQP7 NM_001170 Chr9 33385712 33385712 G A c.678G>A Exon (7/8) 51 122 41.80 p.Asn226Asn Substitution Synonymous HuH-7 AR NM_000044 Chrx 66766347 66766347 + T G c.1359T>G Exon (1/8) 13 234 5.56 p.Gly453Gly Substitution Synonymous HuH-7 AR NM_000044 Chrx 66766353 66766353 + T G c.1365T>G Exon (1/8) 10 189 5.29 p.Gly455Gly Substitution Synonymous MHCC97L AR NM_000044 Chrx 66766356 66766368 + TGGCGGCGGCGGC T c.1368TGGCGGCGGCGGC>T Exon (1/8) 350 813 43.05 Deletion Inframe Hep3B AR NM_000044 Chrx 66766347 66766347 + T G c.1359T>G Exon (1/8) 10 143 6.99 p.Gly453Gly Substitution Synonymous Hep3B AR NM_000044 Chrx 66766356 66766356 + T TGGC c.1368T>TGGC Exon (1/8) 43 138 31.16 Insertion Inframe MHCC97H AR NM_000044 Chrx 66766356 66766368 + TGGCGGCGGCGGC T c.1368TGGCGGCGGCGGC>T Exon (1/8) 125 356 35.11 Deletion Inframe Hep2.2.15 AR NM_000044 Chrx 66766347 66766347 + T G c.1359T>G Exon (1/8) 10 131 7.63 p.Gly453Gly Substitution Synonymous MHCC97H ARID1A NM_006015 Chr1 27100181 27100184 + CGCA C c.3977CGCA>C Exon (16/20) 40 786 5.09 Deletion Inframe SK-HEP-1 ARID2 NM_152641 Chr12 46240658 46240658 + G A c.1518G>A Exon (12/21) 677 1,404 48.22 p.Ala506Ala Substitution Synonymous HuH-7 ASPM NM_001206846 Chr1 197112281 197112281 A T c.1101A>T Exon (3/27) 27 341 7.92 p.Ser367Arg Substitution Non-synonymous MHCC97L ASPM NM_001206846 Chr1 197112445 197112445 T C c.937T>C Exon (3/27) 593 1,743 34.02 p.Ile313Val Substitution Non-synonymous MHCC97H ASPM NM_001206846 Chr1 197112445 197112445 T C c.937T>C Exon (3/27) 385 1,083 35.55 p.Ile313Val Substitution Non-synonymous Hep2.2.15 ATM NM_000051 Chr11 108115631 108115631 + C T c.779C>T Exon (7/63) 81 851 9.52 p.Pro260Leu Substitution Non-synonymous Hep2.2.15 ATM NM_000051 Chr11 108115633 108115633 + A T c.781A>T Exon (7/63) 81 855 9.47 p.Thr261Ser Substitution Non-synonymous Hep2.2.15 ATM NM_000051 Chr11 108214088 108214088 + A T c.8408A>T Exon (57/63) 105 907 11.58 p.Lys2803Met Substitution Non-synonymous Hep2.2.15 ATM NM_000051 Chr11 108224537 108224537 + G A c.8716G>A Exon (60/63) 556 858 64.80 p.Val2906Ile Substitution Non-synonymous HepG2 ATM NM_000051 Chr11 108224537 108224537 + G A c.8716G>A Exon (60/63) 433 980 44.18 p.Val2906Ile Substitution Non-synonymous SK-HEP-1 ATM NM_000051 Chr11 108196896 108196896 + C T c.6919C>T Exon (47/63) 426 743 57.34 p.Leu2307Phe Substitution Non-synonymous HepG2 ATP10B NM_025153 Chr5 160047887 160047887 A T c.1883A>T Exon (15/26) 72 1,270 5.67 p.Leu628* Substitution Stop-codon-gain MHCC97L AXIN1 NM_181050 Chr16 354403 354403 A G c.1155A>G Exon (5/10) 337 1,004 33.57 p.Pro385Pro Substitution Synonymous Hep3B AXIN1 NM_181050 Chr16 348042 348042 C A c.1464C>A Exon (6/10) 425 426 99.77 p.Gly488Gly Substitution Synonymous Hep3B AXIN1 NM_181050 Chr16 396590 396590 G A c.436G>A Exon (2/10) 687 691 99.42 p.Arg146* Substitution Stop-codon-gain MHCC97H AXIN1 NM_181050 Chr16 354403 354403 A G c.1155A>G Exon (5/10) 204 627 32.54 p.Pro385Pro Substitution Synonymous SK-HEP-1 BRAF NM_004333 Chr7 140453136 140453136 A T c.1799A>T Exon (15/18) 632 1,209 52.27 p.Val600Glu Substitution Non-synonymous HuH-7 BRD7 NM_001173984 Chr16 50368677 50368679 CCT C c.832CCT>C Exon (7/17) 20 324 6.17 Deletion Frameshift MHCC97L BRD7 NM_001173984 Chr16 50368677 50368679 CCT C c.832CCT>C Exon (7/17) 46 403 11.41 Deletion Frameshift MHCC97H BRD7 NM_001173984 Chr16 50368677 50368679 CCT C c.832CCT>C Exon (7/17) 16 253 6.32 Deletion Frameshift Hep2.2.15 BRD7 NM_001173984 Chr16 50368677 50368679 CCT C c.832CCT>C Exon (7/17) 16 300 5.33 Deletion Frameshift Hep2.2.15 BRD7 NM_001173984 Chr16 50383950 50383950 G T c.575G>T Exon (5/17) 66 206 32.04 p.Ser192Tyr Substitution Non-synonymous HepG2 BRD7 NM_001173984 Chr16 50368677 50368679 CCT C c.832CCT>C Exon (7/17) 21 243 8.64 Deletion Frameshift SK-HEP-1 BRD7 NM_001173984 Chr16 50368677 50368679 CCT C c.832CCT>C Exon (7/17) 14 177 7.91 Deletion Frameshift HuH-7 CCDC178 NM_001308126 Chr18 30913142 30913142 A AT c.875A>AT Exon (9/23) 8 101 7.92 Insertion Frameshift HuH-7 CCDC178 NM_001308126 Chr18 30672822 30672822 T C c.2291T>C Exon (20/23) 235 522 45.02 p.Gln764Arg Substitution Non-synonymous MHCC97L CCDC178 NM_001308126 Chr18 30913142 30913142 A AT c.875A>AT Exon (9/23) 7 137 5.11 Insertion Frameshift HepG2 CD209 NM_001144896 Chr19 7810656 7810656 T G c.424T>G Exon (3/6) 24 417 5.76 p.Met142Leu Substitution Non-synonymous MHCC97L CDK8 NM_001260 Chr13 26970453 26970453 + T C c.822T>C Exon (8/13) 31 538 5.76 p.Pro274Pro Substitution Synonymous Hep3B CDKN2A NM_001195132 Chr9 21970993 21970993 C A c.365C>A Exon (2/4) 172 503 34.19 p.Gly122Val Substitution Non-synonymous MHCC97L CREBBP NM_004380 Chr16 3781313 3781313 G A c.5052G>A Exon (30/31) 203 775 26.19 p.Ser1684Ser Substitution Synonymous MHCC97H CREBBP NM_004380 Chr16 3781313 3781313 G A c.5052G>A Exon (30/31) 151 477 31.66 p.Ser1684Ser Substitution Synonymous Hep3B CSMD3 NM_052900 Chr8 113668453 113668453 A G c.2622A>G Exon (17/69) 403 1,220 33.03 p.Ser874Ser Substitution Synonymous Hep3B CSMD3 NM_052900 Chr8 113275878 113275878 C T c.9345C>T Exon (59/69) 687 1,058 64.93 p.Pro3115Pro Substitution Synonymous Hep3B CSMD3 NM_052900 Chr8 113662508 113662508 A G c.2763A>G Exon (18/69) 439 1,235 35.55 p.Asp921Asp Substitution Synonymous Hep3B CSMD3 NM_052900 Chr8 113504760 113504760 C T c.4924C>T Exon (30/69) 413 1,196 34.53 p.Asp1642Asn Substitution Non-synonymous Hep2.2.15 CSMD3 NM_052900 Chr8 113504903 113504903 C G c.4781C>G Exon (30/69) 252 732 34.43 p.Arg1594Pro Substitution Non-synonymous HuH-7 CYB5RL NM_001031672 Chr1 54644920 54644920 C A c.646C>A Exon (7/8) 182 396 45.96 p.Val216Phe Substitution Non-synonymous HuH-7 DIDO1 NM_001193369 Chr20 61525063 61525063 G C c.3056G>C Exon (12/16) 235 569 41.30 p.Ser1019Cys Substitution Non-synonymous MHCC97L DIDO1 NM_001193369 Chr20 61513087 61513087 G A c.4221G>A Exon (16/16) 1,063 1,600 66.44 p.Arg1407Arg Substitution Synonymous MHCC97H DIDO1 NM_001193369 Chr20 61513087 61513087 G A c.4221G>A Exon (16/16) 612 916 66.81 p.Arg1407Arg Substitution Synonymous SK-HEP-1 DMD NM_004006 Chrx 32834733 32834733 T A c.382T>A Exon (6/79) 44 703 6.26 p.Met128Leu Substitution Non-synonymous HuH-7 DST NM_183380 Chr6 56362247 56362247 C T c.13262C>T Exon (73/94) 1,040 1,063 97.84 p.Arg4421His Substitution Non-synonymous Hep2.2.15 DST NM_183380 Chr6 56496706 56496706 C T c.3305C>T Exon (25/94) 54 876 6.16 p.Ser1102Asn Substitution Non-synonymous SK-HEP-1 DST NM_183380 Chr6 56417380 56417380 C A c.9319C>A Exon (52/94) 6 109 5.50 p.Glu3107* Substitution Stop-codon-gain Hep3B EGFR NM_201284 Chr7 55214405 55214405 + G A c.531G>A Exon (4/16) 509 1,265 40.24 p.Ser177Ser Substitution Synonymous HuH-7 ELMO1 NM_001206480 Chr7 37264513 37264513 G T c.672G>T Exon (9/22) 52 827 6.29 p.Thr224Thr Substitution Synonymous MHCC97L EP300 NM_001429 Chr22 41573908 41573908 + C T c.6193C>T Exon (31/31) 7 136 5.15 p.Leu2065Leu Substitution Synonymous MHCC97L EP300 NM_001429 Chr22 41574477 41574477 + T A c.6762T>A Exon (31/31) 7 117 5.98 p.Gly2254Gly Substitution Synonymous MHCC97L EP300 NM_001429 Chr22 41574507 41574507 + C T c.6792C>T Exon (31/31) 12 238 5.04 p.Leu2264Leu Substitution Synonymous MHCC97L EP300 NM_001429 Chr22 41513660 41513660 + T C c.564T>C Exon (2/31) 45 743 6.06 p.Pro188Pro Substitution Synonymous MHCC97L EP300 NM_001429 Chr22 41513681 41513681 + A C c.585A>C Exon (2/31) 39 619 6.30 p.Ser195Ser Substitution Synonymous MHCC97L EP300 NM_001429 Chr22 41513723 41513723 + C T c.627C>T Exon (2/31) 20 373 5.36 p.Asn209Asn Substitution Synonymous MHCC97L EP300 NM_001429 Chr22 41513724 41513724 + C G c.628C>G Exon (2/31) 20 367 5.45 p.Pro210Ala Substitution Non-synonymous MHCC97L EP300 NM_001429 Chr22 41513735 41513735 + A C c.639A>C Exon (2/31) 20 308 6.49 p.Gly213Gly Substitution Synonymous MHCC97L EP300 NM_001429 Chr22 41513737 41513737 + G A c.641G>A Exon (2/31) 20 287 6.97 p.Ser214Asn Substitution Non-synonymous MHCC97L EP300 NM_001429 Chr22 41513746 41513746 + A G c.650A>G Exon (2/31) 17 243 7.00 p.Asn217Ser Substitution Non-synonymous MHCC97L EP300 NM_001429 Chr22 41513747 41513747 + C T c.651C>T Exon (2/31) 16 244 6.56 p.Asn217Asn Substitution Synonymous MHCC97L EP300 NM_001429 Chr22 41513751 41513751 + C T c.655C>T Exon (2/31) 17 231 7.36 p.Leu219Leu Substitution Synonymous MHCC97L EP300 NM_001429 Chr22 41513762 41513762 + T A c.666T>A Exon (2/31) 10 181 5.52 p.Pro222Pro Substitution Synonymous MHCC97L EP300 NM_001429 Chr22 41513765 41513765 + T A c.669T>A Exon (2/31) 10 166 6.02 p.Leu223Leu Substitution Synonymous MHCC97L EP300 NM_001429 Chr22 41513780 41513780 + C T c.684C>T Exon (2/31) 7 126 5.56 p.Pro228Pro Substitution Synonymous MHCC97L ERBB2 NM_004448 Chr17 37882036 37882036 + G C c.2802G>C Exon (23/27) 116 1,480 7.84 p.Leu934Leu Substitution Synonymous HepG2 FAM135B NM_015912 Chr8 139164651 139164651 C G c.2067C>G Exon (13/20) 333 797 41.78 p.Glu689Asp Substitution Non-synonymous Hep3B FAT1 NM_005245 Chr4 187539169 187539169 A C c.8571A>C Exon (10/27) 299 758 39.45 p.Ile2857Met Substitution Non-synonymous HuH-7 FAT2 NM_001447 Chr5 150945518 150945518 C T c.2975C>T Exon (1/23) 600 657 91.32 p.Arg992Gln Substitution Non-synonymous MHCC97L FAT3 NM_001008781 Chr11 92507319 92507319 + C T c.4308C>T Exon (6/25) 547 1,650 33.15 p.Thr1436Thr Substitution Synonymous MHCC97L FAT3 NM_001008781 Chr11 92532758 92532758 + A G c.6579A>G Exon (9/25) 1,122 1,741 64.45 p.Ala2193Ala Substitution Synonymous Hep3B FAT3 NM_001008781 Chr11 92533101 92533101 + C A c.6922C>A Exon (9/25) 55 746 7.37 p.Gln2308Lys Substitution Non-synonymous MHCC97H FAT3 NM_001008781 Chr11 92507319 92507319 + C T c.4308C>T Exon (6/25) 294 937 31.38 p.Thr1436Thr Substitution Synonymous MHCC97H FAT3 NM_001008781 Chr11 92532758 92532758 + A G c.6579A>G Exon (9/25) 709 1,083 65.47 p.Ala2193Ala Substitution Synonymous Hep2.2.15 FAT3 NM_001008781 Chr11 92087927 92087927 + T C c.2649T>C Exon (1/25) 330 953 34.63 p.Thr883Thr Substitution Synonymous HepG2 FAT3 NM_001008781 Chr11 92086451 92086451 + T G c.1173T>G Exon (1/25) 22 321 6.85 p.Pro391Pro Substitution Synonymous Hep2.2.15 FAT4 NM_024582 Chr4 126373784 126373784 + C T c.11613C>T Exon (9/17) 106 354 29.94 p.Cys3871Cys Substitution Synonymous HepG2 FAT4 NM_024582 Chr4 126373784 126373784 + C T c.11613C>T Exon (9/17) 188 366 51.37 p.Cys3871Cys Substitution Synonymous Hep3B FCRL1 NM_052938 Chr1 157771324 157771324 A C c.930A>C Exon (6/11) 275 1,113 24.71 p.Ile310Met Substitution Non-synonymous Hep3B FCRL1 NM_052938 Chr1 157771844 157771844 C G c.747C>G Exon (5/11) 783 786 99.62 p.Leu249Leu Substitution Synonymous Hep3B FCRL1 NM_052938 Chr1 157772404 157772404 C T c.370C>T Exon (4/11) 731 993 73.62 p.Val124Met Substitution Non-synonymous HuH-7 FGFR3 NM_001163213 Chr4 1808031 1808031 + A G c.2013A>G Exon (15/18) 9 180 5.00 p.Arg671Arg Substitution Synonymous HuH-7 FRAS1 NM_001166133 Chr4 79166478 79166478 + A T c.308A>T Exon (4/42) 1,132 1,149 98.52 p.Glu103Val Substitution Non-synonymous MHCC97L FRAS1 NM_001166133 Chr4 79166478 79166478 + A T c.308A>T Exon (4/42) 321 604 53.15 p.Glu103Val Substitution Non-synonymous MHCC97H FRAS1 NM_001166133 Chr4 79166478 79166478 + A T c.308A>T Exon (4/42) 145 372 38.98 p.Glu103Val Substitution Non-synonymous SK-HEP-1 GPR137B NM_003272 Chr1 236306072 236306072 + C T c.150C>T Exon (1/7) 46 130 35.38 p.Thr50Thr Substitution Synonymous MHCC97L HNRNPA2B1 NM_031243 Chr7 26233292 26233292 G A c.780G>A Exon (9/12) 72 1,284 5.61 p.Pro260Pro Substitution Synonymous MHCC97L HNRNPA2B1 NM_031243 Chr7 26236199 26236199 C T c.591C>T Exon (6/12) 14 265 5.28 p.Gln197Gln Substitution Synonymous MHCC97L HNRNPA2B1 NM_031243 Chr7 26236202 26236202 A G c.588A>G Exon (6/12) 14 251 5.58 p.Val196Val Substitution Synonymous MHCC97L HNRNPA2B1 NM_031243 Chr7 26236229 26236229 A T c.561A>T Exon (6/12) 13 201 6.47 p.Ala187Ala Substitution Synonymous MHCC97L HNRNPA2B1 NM_031243 Chr7 26236238 26236238 T A c.552T>A Exon (6/12) 11 205 5.37 p.Val184Val Substitution Synonymous MHCC97L HNRNPR NM_001102397 Chr1 23637097 23637097 C T c.1449C>T Exon (10/10) 47 714 6.58 p.Lys483Lys Substitution Synonymous MHCC97L HNRNPR NM_001102397 Chr1 23637154 23637154 A T c.1392A>T Exon (10/10) 77 961 8.01 p.Arg464Arg Substitution Synonymous MHCC97L HNRNPR NM_001102397 Chr1 23637168 23637168 A C c.1378A>C Exon (10/10) 77 973 7.91 p.Ser460Ala Substitution Non-synonymous MHCC97L HNRNPR NM_001102397 Chr1 23637175 23637175 G A c.1371G>A Exon (10/10) 73 966 7.56 p.Ser457Ser Substitution Synonymous MHCC97L HNRNPR NM_001102397 Chr1 23637199 23637199 A T c.1347A>T Exon (10/10) 74 868 8.53 p.Ala449Ala Substitution Synonymous MHCC97L HNRNPR NM_001102397 Chr1 23637223 23637223 A T c.1323A>T Exon (10/10) 55 707 7.78 p.Ser441Ser Substitution Synonymous MHCC97L HNRNPR NM_001102397 Chr1 23637297 23637297 T G c.1249T>G Exon (10/10) 23 362 6.35 p.Arg417Arg Substitution Synonymous MHCC97L HNRNPR NM_001102397 Chr1 23637765 23637765 T A c.915T>A Exon (9/10) 65 1,180 5.51 p.Ile305Ile Substitution Synonymous MHCC97H HOXC4 NM_014620 Chr12 54448042 54448042 + A C c.336A>C Exon (3/4) 40 702 5.70 p.Pro112Pro Substitution Synonymous Hep2.2.15 HOXC4 NM_014620 Chr12 54448042 54448042 + A C c.336A>C Exon (3/4) 47 852 5.52 p.Pro112Pro Substitution Synonymous MHCC97L HSPA8 NM_006597 Chr11 122930548 122930548 C T c.753C>T Exon (5/9) 21 279 7.53 p.Lys251Lys Substitution Synonymous MHCC97L HSPA8 NM_006597 Chr11 122930554 122930554 A G c.747A>G Exon (5/9) 24 317 7.57 p.His249His Substitution Synonymous MHCC97L HSPA8 NM_006597 Chr11 122930560 122930560 G T c.741G>T Exon (5/9) 28 344 8.14 p.Arg247Arg Substitution Synonymous MHCC97L HSPA8 NM_006597 Chr11 122930566 122930566 A G c.735A>G Exon (5/9) 27 396 6.82 p.Phe245Phe Substitution Synonymous MHCC97L HSPA8 NM_006597 Chr11 122930578 122930578 A G c.723A>G Exon (5/9) 39 455 8.57 p.Phe241Phe Substitution Synonymous MHCC97L HSPA8 NM_006597 Chr11 122930584 122930584 G A c.717G>A Exon (5/9) 43 492 8.74 p.Asn239Asn Substitution Synonymous MHCC97L HSPA8 NM_006597 Chr11 122930617 122930617 C T c.684C>T Exon (5/9) 40 630 6.35 p.Leu228Leu Substitution Synonymous MHCC97L HSPA8 NM_006597 Chr11 122930638 122930638 A T c.663A>T Exon (5/9) 51 651 7.83 p.Ser221Ser Substitution Synonymous MHCC97L HSPA8 NM_006597 Chr11 122930641 122930641 C T c.660C>T Exon (5/9) 51 651 7.83 p.Lys220Lys Substitution Synonymous MHCC97L HSPA8 NM_006597 Chr11 122930653 122930653 G A c.648G>A Exon (5/9) 52 628 8.28 p.Ile216Ile Substitution Synonymous MHCC97L HSPA8 NM_006597 Chr11 122930703 122930703 G A c.598G>A Exon (5/9) 33 438 7.53 p.Leu200Leu Substitution Synonymous MHCC97L HSPA8 NM_006597 Chr11 122930710 122930710 G A c.591G>A Exon (5/9) 27 406 6.65 p.Ile197Ile Substitution Synonymous SK-HEP-1 IL6ST NM_001190981 Chr5 55265522 55265522 T C c.226T>C Exon (4/16) 255 890 28.65 p.Lys76Glu Substitution Non-synonymous HuH-7 KEAP1 NM_203500 Chr19 10602576 10602576 G A c.1002G>A Exon (3/6) 281 1,161 24.20 p.Tyr334Tyr Substitution Synonymous MHCC97L KEAP1 NM_203500 Chr19 10600520 10600521 TG T c.1335TG>T Exon (4/6) 1,329 1,386 95.89 Deletion Frameshift MHCC97H KEAP1 NM_203500 Chr19 10600520 10600521 TG T c.1335TG>T Exon (4/6) 805 841 95.72 Deletion Frameshift Hep3B KIF26B NM_018012 Chr1 245775265 245775265 + C T c.2085C>T Exon (9/15) 740 979 75.59 p.Ser695Ser Substitution Synonymous Hep2.2.15 KIF26B NM_018012 Chr1 245772763 245772763 + C T c.1847C>T Exon (8/15) 79 152 51.97 p.Thr616Met Substitution Non-synonymous HepG2 KIF26B NM_018012 Chr1 245772763 245772763 + C T c.1847C>T Exon (8/15) 83 147 56.46 p.Thr616Met Substitution Non-synonymous Hep3B KMT2B NM_014727 Chr19 36211359 36211359 + A G c.1110A>G Exon (3/37) 34 102 33.33 p.Glu370Glu Substitution Synonymous HuH-7 KMT2C NM_170606 Chr7 151882657 151882657 T G c.5068T>G Exon (34/59) 265 1,988 13.33 p.Arg1690Arg Substitution Synonymous HuH-7 KMT2C NM_170606 Chr7 151945071 151945071 G GT c.2448G>GT Exon (14/59) 44 360 12.22 Insertion Frameshift HuH-7 KMT2C NM_170606 Chr7 151945140 151945140 C T c.2379C>T Exon (14/59) 92 855 10.76 p.Ser793Ser Substitution Synonymous HuH-7 KMT2C NM_170606 Chr7 151945167 151945167 G T c.2352G>T Exon (14/59) 91 1,057 8.61 p.Ser784Ser Substitution Synonymous HuH-7 KMT2C NM_170606 Chr7 151945204 151945204 G A c.2315G>A Exon (14/59) 125 1,401 8.92 p.Ser772Leu Substitution Non-synonymous HuH-7 KMT2C NM_170606 Chr7 151962257 151962257 C T c.1050C>T Exon (8/59) 280 3,360 8.33 p.Pro350Pro Substitution Synonymous HuH-7 KMT2C NM_170606 Chr7 151962265 151962265 C T c.1042C>T Exon (8/59) 245 3,129 7.83 p.Asp348Asn Substitution Non-synonymous HuH-7 KMT2C NM_170606 Chr7 151962290 151962290 C G c.1017C>G Exon (8/59) 422 2,376 17.76 p.Lys339Asn Substitution Non-synonymous HuH-7 KMT2C NM_170606 Chr7 151970797 151970797 A T c.1005A>T Exon (7/59) 53 914 5.80 p.Pro335Pro Substitution Synonymous HuH-7 KMT2C NM_170606 Chr7 151970856 151970856 T A c.946T>A Exon (7/59) 580 1,267 45.78 p.Thr316Ser Substitution Non-synonymous HuH-7 KMT2C NM_170606 Chr7 151970877 151970877 G A c.925G>A Exon (7/59) 273 1,526 17.89 p.Pro309Ser Substitution Non-synonymous HuH-7 KMT2C NM_170606 Chr7 151970931 151970931 G A c.871G>A Exon (7/59) 721 2,014 35.80 p.Leu291Phe Substitution Non-synonymous HuH-7 KMT2C NM_170606 Chr7 151970951 151970951 C T c.851C>T Exon (7/59) 298 2,093 14.24 p.Arg284Gln Substitution Non-synonymous MHCC97L KMT2C NM_170606 Chr7 151882657 151882657 T G c.5068T>G Exon (34/59) 122 2,260 5.40 p.Arg1690Arg Substitution Synonymous MHCC97L KMT2C NM_170606 Chr7 151945071 151945071 G GT c.2448G>GT Exon (14/59) 41 195 21.03 Insertion Frameshift MHCC97L KMT2C NM_170606 Chr7 151945204 151945204 G A c.2315G>A Exon (14/59) 61 1,166 5.23 p.Ser772Leu Substitution Non-synonymous MHCC97L KMT2C NM_170606 Chr7 151962146 151962146 C A c.1161C>A Exon (8/59) 617 2,152 28.67 p.Glu387Asp Substitution Non-synonymous MHCC97L KMT2C NM_170606 Chr7 151962176 151962176 T A c.1131T>A Exon (8/59) 488 2,725 17.91 p.Pro377Pro Substitution Synonymous MHCC97L KMT2C NM_170606 Chr7 151962257 151962257 C T c.1050C>T Exon (8/59) 167 2,371 7.04 p.Pro350Pro Substitution Synonymous MHCC97L KMT2C NM_170606 Chr7 151962265 151962265 C T c.1042C>T Exon (8/59) 146 2,224 6.56 p.Asp348Asn Substitution Non-synonymous MHCC97L KMT2C NM_170606 Chr7 151970797 151970797 A T c.1005A>T Exon (7/59) 58 644 9.01 p.Pro335Pro Substitution Synonymous MHCC97L KMT2C NM_170606 Chr7 151970856 151970856 T A c.946T>A Exon (7/59) 427 1,031 41.42 p.Thr316Ser Substitution Non-synonymous MHCC97L KMT2C NM_170606 Chr7 151970877 151970877 G A c.925G>A Exon (7/59) 76 1,240 6.13 p.Pro309Ser Substitution Non-synonymous MHCC97L KMT2C NM_170606 Chr7 151970931 151970931 G A c.871G>A Exon (7/59) 614 1,736 35.37 p.Leu291Phe Substitution Non-synonymous Hep3B KMT2C NM_170606 Chr7 151945071 151945071 G GT c.2448G>GT Exon (14/59) 33 356 9.27 Insertion Frameshift Hep3B KMT2C NM_170606 Chr7 151945101 151945101 G C c.2418G>C Exon (14/59) 36 446 8.07 p.Ser806Ser Substitution Synonymous Hep3B KMT2C NM_170606 Chr7 151945140 151945140 C T c.2379C>T Exon (14/59) 105 655 16.03 p.Ser793Ser Substitution Synonymous Hep3B KMT2C NM_170606 Chr7 151945167 151945167 G T c.2352G>T Exon (14/59) 164 766 21.41 p.Ser784Ser Substitution Synonymous Hep3B KMT2C NM_170606 Chr7 151945204 151945204 G A c.2315G>A Exon (14/59) 213 943 22.59 p.Ser772Leu Substitution Non-synonymous Hep3B KMT2C NM_170606 Chr7 151962134 151962134 G T c.1173G>T Exon (8/59) 364 2,615 13.92 p.Cys391* Substitution Stop-codon-gain Hep3B KMT2C NM_170606 Chr7 151962168 151962168 C A c.1139C>A Exon (8/59) 491 3,504 14.01 p.Arg380Leu Substitution Non-synonymous Hep3B KMT2C NM_170606 Chr7 151962176 151962176 T A c.1131T>A Exon (8/59) 595 3,600 16.53 p.Pro377Pro Substitution Synonymous Hep3B KMT2C NM_170606 Chr7 151962269 151962269 C T c.1038C>T Exon (8/59) 294 2,690 10.93 p.Val346Val Substitution Synonymous Hep3B KMT2C NM_170606 Chr7 151962290 151962290 C G c.1017C>G Exon (8/59) 154 2,059 7.48 p.Lys339Asn Substitution Non-synonymous Hep3B KMT2C NM_170606 Chr7 151962294 151962294 G A c.1013G>A Exon (8/59) 161 1,843 8.74 p.Ser338Leu Substitution Non-synonymous Hep3B KMT2C NM_170606 Chr7 151970835 151970835 T C c.967T>C Exon (7/59) 61 1,183 5.16 p.Ile323Val Substitution Non-synonymous Hep3B KMT2C NM_170606 Chr7 151970856 151970856 T A c.946T>A Exon (7/59) 889 1,265 70.28 p.Thr316Ser Substitution Non-synonymous Hep3B KMT2C NM_170606 Chr7 151970859 151970859 C T c.943C>T Exon (7/59) 175 1,292 13.54 p.Gly315Ser Substitution Non-synonymous Hep3B KMT2C NM_170606 Chr7 151970931 151970931 G A c.871G>A Exon (7/59) 1,158 1,864 62.12 p.Leu291Phe Substitution Non-synonymous Hep3B KMT2C NM_170606 Chr7 151970951 151970951 C T c.851C>T Exon (7/59) 110 1,956 5.62 p.Arg284Gln Substitution Non-synonymous MHCC97H KMT2C NM_170606 Chr7 151882657 151882657 T G c.5068T>G Exon (34/59) 165 1,311 12.59 p.Arg1690Arg Substitution Synonymous MHCC97H KMT2C NM_170606 Chr7 151945071 151945071 G GT c.2448G>GT Exon (14/59) 28 128 21.88 Insertion Frameshift MHCC97H KMT2C NM_170606 Chr7 151945204 151945204 G A c.2315G>A Exon (14/59) 45 770 5.84 p.Ser772Leu Substitution Non-synonymous MHCC97H KMT2C NM_170606 Chr7 151962146 151962146 C A c.1161C>A Exon (8/59) 181 1,484 12.20 p.Glu387Asp Substitution Non-synonymous MHCC97H KMT2C NM_170606 Chr7 151962176 151962176 T A c.1131T>A Exon (8/59) 302 1,881 16.06 p.Pro377Pro Substitution Synonymous MHCC97H KMT2C NM_170606 Chr7 151962257 151962257 C T c.1050C>T Exon (8/59) 99 1,626 6.09 p.Pro350Pro Substitution Synonymous MHCC97H KMT2C NM_170606 Chr7 151962265 151962265 C T c.1042C>T Exon (8/59) 88 1,521 5.79 p.Asp348Asn Substitution Non-synonymous MHCC97H KMT2C NM_170606 Chr7 151970797 151970797 A T c.1005A>T Exon (7/59) 72 456 15.79 p.Pro335Pro Substitution Synonymous MHCC97H KMT2C NM_170606 Chr7 151970856 151970856 T A c.946T>A Exon (7/59) 314 705 44.54 p.Thr316Ser Substitution Non-synonymous MHCC97H KMT2C NM_170606 Chr7 151970859 151970859 C A c.943C>A Exon (7/59) 49 724 6.77 p.Gly315Cys Substitution Non-synonymous MHCC97H KMT2C NM_170606 Chr7 151970877 151970877 G A c.925G>A Exon (7/59) 63 838 7.52 p.Pro309Ser Substitution Non-synonymous MHCC97H KMT2C NM_170606 Chr7 151970931 151970931 G A c.871G>A Exon (7/59) 417 1,176 35.46 p.Leu291Phe Substitution Non-synonymous Hep2.2.15 KMT2C NM_170606 Chr7 151945007 151945007 C T c.2512C>T Exon (14/59) 38 107 35.51 p.Gly838Ser Substitution Non-synonymous Hep2.2.15 KMT2C NM_170606 Chr7 151945071 151945071 G GT c.2448G>GT Exon (14/59) 113 419 26.97 Insertion Frameshift Hep2.2.15 KMT2C NM_170606 Chr7 151945101 151945101 G C c.2418G>C Exon (14/59) 34 518 6.56 p.Ser806Ser Substitution Synonymous Hep2.2.15 KMT2C NM_170606 Chr7 151945140 151945140 C T c.2379C>T Exon (14/59) 147 735 20.00 p.Ser793Ser Substitution Synonymous Hep2.2.15 KMT2C NM_170606 Chr7 151945167 151945167 G T c.2352G>T Exon (14/59) 143 894 16.00 p.Ser784Ser Substitution Synonymous Hep2.2.15 KMT2C NM_170606 Chr7 151945204 151945204 G A c.2315G>A Exon (14/59) 266 1,079 24.65 p.Ser772Leu Substitution Non-synonymous Hep2.2.15 KMT2C NM_170606 Chr7 151945215 151945215 T C c.2304T>C Exon (14/59) 94 1,112 8.45 p.Ser768Ser Substitution Synonymous Hep2.2.15 KMT2C NM_170606 Chr7 151962176 151962176 T A c.1131T>A Exon (8/59) 1,302 4,139 31.46 p.Pro377Pro Substitution Synonymous Hep2.2.15 KMT2C NM_170606 Chr7 151962257 151962257 C T c.1050C>T Exon (8/59) 253 3,487 7.26 p.Pro350Pro Substitution Synonymous Hep2.2.15 KMT2C NM_170606 Chr7 151962265 151962265 C T c.1042C>T Exon (8/59) 233 3,255 7.16 p.Asp348Asn Substitution Non-synonymous Hep2.2.15 KMT2C NM_170606 Chr7 151970856 151970856 T A c.946T>A Exon (7/59) 840 1,288 65.22 p.Thr316Ser Substitution Non-synonymous Hep2.2.15 KMT2C NM_170606 Chr7 151970877 151970877 G A c.925G>A Exon (7/59) 153 1,454 10.52 p.Pro309Ser Substitution Non-synonymous Hep2.2.15 KMT2C NM_170606 Chr7 151970884 151970884 A G c.918A>G Exon (7/59) 77 1,503 5.12 p.Tyr306Tyr Substitution Synonymous Hep2.2.15 KMT2C NM_170606 Chr7 151970931 151970931 G A c.871G>A Exon (7/59) 1,194 1,998 59.76 p.Leu291Phe Substitution Non-synonymous HepG2 KMT2C NM_170606 Chr7 151882657 151882657 T G c.5068T>G Exon (34/59) 76 1,131 6.72 p.Arg1690Arg Substitution Synonymous HepG2 KMT2C NM_170606 Chr7 151945071 151945071 G GT c.2448G>GT Exon (14/59) 72 312 23.08 Insertion Frameshift HepG2 KMT2C NM_170606 Chr7 151945101 151945101 G C c.2418G>C Exon (14/59) 22 406 5.42 p.Ser806Ser Substitution Synonymous HepG2 KMT2C NM_170606 Chr7 151945140 151945140 C T c.2379C>T Exon (14/59) 127 575 22.09 p.Ser793Ser Substitution Synonymous HepG2 KMT2C NM_170606 Chr7 151945167 151945167 G T c.2352G>T Exon (14/59) 124 672 18.45 p.Ser784Ser Substitution Synonymous HepG2 KMT2C NM_170606 Chr7 151945204 151945204 G A c.2315G>A Exon (14/59) 190 841 22.59 p.Ser772Leu Substitution Non-synonymous HepG2 KMT2C NM_170606 Chr7 151945215 151945215 T C c.2304T>C Exon (14/59) 54 857 6.30 p.Ser768Ser Substitution Synonymous HepG2 KMT2C NM_170606 Chr7 151962176 151962176 T A c.1131T>A Exon (8/59) 1,217 4,126 29.50 p.Pro377Pro Substitution Synonymous HepG2 KMT2C NM_170606 Chr7 151962257 151962257 C T c.1050C>T Exon (8/59) 310 3,386 9.16 p.Pro350Pro Substitution Synonymous HepG2 KMT2C NM_170606 Chr7 151962265 151962265 C T c.1042C>T Exon (8/59) 286 3,111 9.19 p.Asp348Asn Substitution Non-synonymous HepG2 KMT2C NM_170606 Chr7 151970856 151970856 T A c.946T>A Exon (7/59) 890 1,241 71.72 p.Thr316Ser Substitution Non-synonymous HepG2 KMT2C NM_170606 Chr7 151970877 151970877 G A c.925G>A Exon (7/59) 171 1,421 12.03 p.Pro309Ser Substitution Non-synonymous HepG2 KMT2C NM_170606 Chr7 151970884 151970884 A G c.918A>G Exon (7/59) 96 1,446 6.64 p.Tyr306Tyr Substitution Synonymous HepG2 KMT2C NM_170606 Chr7 151970931 151970931 G A c.871G>A Exon (7/59) 1,215 1,878 64.70 p.Leu291Phe Substitution Non-synonymous SK-HEP-1 KMT2C NM_170606 Chr7 151878133 151878133 G C c.6812G>C Exon (36/59) 6 113 5.31 p.Thr2271Arg Substitution Non-synonymous SK-HEP-1 KMT2C NM_170606 Chr7 151945071 151945071 G GT c.2448G>GT Exon (14/59) 11 162 6.79 Insertion Frameshift SK-HEP-1 KMT2C NM_170606 Chr7 151945140 151945140 C T c.2379C>T Exon (14/59) 41 428 9.58 p.Ser793Ser Substitution Synonymous SK-HEP-1 KMT2C NM_170606 Chr7 151945167 151945167 G T c.2352G>T Exon (14/59) 41 586 7.00 p.Ser784Ser Substitution Synonymous SK-HEP-1 KMT2C NM_170606 Chr7 151945204 151945204 G A c.2315G>A Exon (14/59) 51 855 5.96 p.Ser772Leu Substitution Non-synonymous SK-HEP-1 KMT2C NM_170606 Chr7 151962176 151962176 T A c.1131T>A Exon (8/59) 517 2,507 20.62 p.Pro377Pro Substitution Synonymous SK-HEP-1 KMT2C NM_170606 Chr7 151962277 151962277 A T c.1030A>T Exon (8/59) 164 1,774 9.24 p.Cys344Ser Substitution Non-synonymous SK-HEP-1 KMT2C NM_170606 Chr7 151962290 151962290 C G c.1017C>G Exon (8/59) 129 1,500 8.60 p.Lys339Asn Substitution Non-synonymous SK-HEP-1 KMT2C NM_170606 Chr7 151970797 151970797 A T c.1005A>T Exon (7/59) 24 448 5.36 p.Pro335Pro Substitution Synonymous SK-HEP-1 KMT2C NM_170606 Chr7 151970856 151970856 T A c.946T>A Exon (7/59) 342 760 45.00 p.Thr316Ser Substitution Non-synonymous SK-HEP-1 KMT2C NM_170606 Chr7 151970931 151970931 G A c.871G>A Exon (7/59) 443 1,327 33.38 p.Leu291Phe Substitution Non-synonymous SK-HEP-1 KMT2C NM_170606 Chr7 151970951 151970951 C T c.851C>T Exon (7/59) 101 1,449 6.97 p.Arg284Gln Substitution Non-synonymous HuH-7 KMT2D NM_003482 Chr12 49420995 49420995 A G c.14754A>G Exon (48/54) 54 839 6.44 p.Pro4918Pro Substitution Synonymous HuH-7 KMT2D NM_003482 Chr12 49432205 49432205 A G c.8934A>G Exon (34/54) 172 764 22.51 p.Pro2978Pro Substitution Synonymous HuH-7 KMT2D NM_003482 Chr12 49435772 49435772 G C c.6111G>C Exon (29/54) 703 1,385 50.76 p.Asp2037Glu Substitution Non-synonymous MHCC97L KMT2D NM_003482 Chr12 49420995 49420995 A G c.14754A>G Exon (48/54) 60 1,036 5.79 p.Pro4918Pro Substitution Synonymous Hep3B KMT2D NM_003482 Chr12 49420995 49420995 A G c.14754A>G Exon (48/54) 40 428 9.35 p.Pro4918Pro Substitution Synonymous Hep3B KMT2D NM_003482 Chr12 49421001 49421001 C G c.14748C>G Exon (48/54) 27 454 5.95 p.Pro4916Pro Substitution Synonymous Hep3B KMT2D NM_003482 Chr12 49433714 49433714 C T c.7839C>T Exon (31/54) 561 789 71.10 p.Pro2613Pro Substitution Synonymous MHCC97H KMT2D NM_003482 Chr12 49420995 49420995 A G c.14754A>G Exon (48/54) 33 646 5.11 p.Pro4918Pro Substitution Synonymous Hep2.2.15 KMT2D NM_003482 Chr12 49420995 49420995 A G c.14754A>G Exon (48/54) 32 482 6.64 p.Pro4918Pro Substitution Synonymous HepG2 KMT2D NM_003482 Chr12 49420995 49420995 A G c.14754A>G Exon (48/54) 22 420 5.24 p.Pro4918Pro Substitution Synonymous SK-HEP-1 KMT2D NM_003482 Chr12 49426729 49426732 AGCT A c.11759AGCT>A Exon (39/54) 6 119 5.04 Deletion Inframe Hep2.2.15 LRP1B NM_018557 Chr2 141299517 141299517 C A c.7218C>A Exon (44/91) 298 896 33.26 p.Gly2406Gly Substitution Synonymous SK-HEP-1 LRP1B NM_018557 Chr2 141526812 141526812 A T c.5728A>T Exon (35/91) 923 1,165 79.23 p.Ser1910Thr Substitution Non-synonymous Hep3B LRP8 NM_001018054 Chr1 53732147 53732147 A G c.1425A>G Exon (9/18) 513 515 99.61 p.Tyr475Tyr Substitution Synonymous Hep3B LYST NM_000081 Chr1 235993565 235993565 T G c.153T>G Exon (3/53) 671 850 78.94 p.Gly51Gly Substitution Synonymous MHCC97L MAP2K3 NM_002756 Chr17 21203963 21203963 + C T c.185C>T Exon (4/12) 75 894 8.39 p.Ala62Val Substitution Non-synonymous MHCC97H MAP2K3 NM_002756 Chr17 21203963 21203963 + C T c.185C>T Exon (4/12) 50 601 8.32 p.Ala62Val Substitution Non-synonymous HuH-7 MAP3K1 NM_005921 Chr5 56177848 56177851 + TCAA T c.2821TCAA>T Exon (14/20) 729 904 80.64 Deletion Inframe MHCC97L MAP3K1 NM_005921 Chr5 56177848 56177851 + TCAA T c.2821TCAA>T Exon (14/20) 689 800 86.12 Deletion Inframe MHCC97H MAP3K1 NM_005921 Chr5 56177848 56177851 + TCAA T c.2821TCAA>T Exon (14/20) 440 515 85.44 Deletion Inframe Hep2.2.15 MAP3K1 NM_005921 Chr5 56177848 56177851 + TCAA T c.2821TCAA>T Exon (14/20) 359 948 37.87 Deletion Inframe HepG2 MAP3K1 NM_005921 Chr5 56177848 56177851 + TCAA T c.2821TCAA>T Exon (14/20) 296 675 43.85 Deletion Inframe SK-HEP-1 MAP3K1 NM_005921 Chr5 56177848 56177851 + TCAA T c.2821TCAA>T Exon (14/20) 490 605 80.99 Deletion Inframe SK-HEP-1 MAP3K1 NM_005921 Chr5 56177848 56177854 + TCAACAA T c.2821TCAACAA>T Exon (14/20) 31 605 5.12 Deletion Inframe MHCC97L MSH3 NM_002439 Chr5 80169088 80169088 + G A c.3284G>A Exon (23/24) 388 804 48.26 p.Gly1095Glu Substitution Non-synonymous MHCC97H MSH3 NM_002439 Chr5 80169088 80169088 + G A c.3284G>A Exon (23/24) 241 472 51.06 p.Gly1095Glu Substitution Non-synonymous Hep2.2.15 MSH3 NM_002439 Chr5 79950699 79950717 + TGCAGCGGCTGCAGCGGCC T c.153TGCAGCGGCTGCAGCGGCC>T Exon (1/24) 67 253 26.48 Deletion Inframe Hep2.2.15 MSH3 NM_002439 Chr5 79950741 79950750 + GCCCCCAGCT G c.195GCCCCCAGCT>G Exon (1/24) 109 179 60.89 Deletion Inframe HepG2 MSH3 NM_002439 Chr5 79950699 79950717 + TGCAGCGGCTGCAGCGGCC T c.153TGCAGCGGCTGCAGCGGCC>T Exon (1/24) 59 242 24.38 Deletion Inframe HepG2 MSH3 NM_002439 Chr5 79950741 79950750 + GCCCCCAGCT G c.195GCCCCCAGCT>G Exon (1/24) 79 159 49.69 Deletion Inframe SK-HEP-1 MSH3 NM_002439 Chr5 79950724 79950724 + G GCCGCAGCGC c.178G>GCCGCAGCGC Exon (1/24) 19 170 11.18 Insertion Inframe SK-HEP-1 MSH3 NM_002439 Chr5 79950736 79950736 + C G c.190C>G Exon (1/24) 28 148 18.92 p.Pro64Ala Substitution Non-synonymous SK-HEP-1 MSH3 NM_002439 Chr5 79950750 79950750 + T G c.204T>G Exon (1/24) 10 115 8.70 p.Ala68Ala Substitution Synonymous HuH-7 MSH6 NM_001281494 Chr2 48032098 48032098 + A T c.2582A>T Exon (6/10) 478 1,311 36.46 p.Glu861Val Substitution Non-synonymous Hep3B MSH6 NM_001281494 Chr2 48033700 48033700 + G A c.3005G>A Exon (9/10) 209 773 27.04 p.Arg1002Lys Substitution Non-synonymous Hep2.2.15 MUTYH NM_001048173 Chr1 45797519 45797519 G C c.916G>C Exon (12/16) 507 1,051 48.24 p.Pro306Ala Substitution Non-synonymous HepG2 MUTYH NM_001048173 Chr1 45797519 45797519 G C c.916G>C Exon (12/16) 370 777 47.62 p.Pro306Ala Substitution Non-synonymous MHCC97L NCOR1 NM_006311 Chr17 15973828 15973828 T C c.4164T>C Exon (31/46) 61 187 32.62 p.Ile1388Met Substitution Non-synonymous MHCC97H NCOR1 NM_006311 Chr17 15973828 15973828 T C c.4164T>C Exon (31/46) 35 105 33.33 p.Ile1388Met Substitution Non-synonymous HuH-7 NID1 NM_002508 Chr1 236201534 236201534 A G c.1155A>G Exon (5/20) 494 506 97.63 p.Asp385Asp Substitution Synonymous Hep3B NID1 NM_002508 Chr1 236205440 236205440 C T c.905C>T Exon (4/20) 498 498 100.00 p.Arg302His Substitution Non-synonymous Hep2.2.15 NID1 NM_002508 Chr1 236208840 236208840 T C c.669T>C Exon (3/20) 61 1,151 5.30 p.Gln223Gln Substitution Synonymous HuH-7 NIPAL3 NM_020448 Chr1 24782710 24782710 + C T c.720C>T Exon (8/12) 105 1,613 6.51 p.Pro240Pro Substitution Synonymous HuH-7 NOTCH1 NM_017617 Chr9 139417493 139417493 T C c.551T>C Exon (4/34) 903 924 97.73 p.Gln184Arg Substitution Non-synonymous HuH-7 NOTCH1 NM_017617 Chr9 139391543 139391543 C T c.6648C>T Exon (34/34) 1,264 1,277 98.98 p.Pro2216Pro Substitution Synonymous MHCC97L NOTCH1 NM_017617 Chr9 139391543 139391543 C T c.6648C>T Exon (34/34) 674 1,069 63.05 p.Pro2216Pro Substitution Synonymous Hep3B NOTCH1 NM_017617 Chr9 139391737 139391737 C G c.6454C>G Exon (34/34) 204 309 66.02 p.Gly2152Arg Substitution Non-synonymous MHCC97H NOTCH1 NM_017617 Chr9 139391543 139391543 C T c.6648C>T Exon (34/34) 404 753 53.65 p.Pro2216Pro Substitution Synonymous Hep2.2.15 NOTCH1 NM_017617 Chr9 139391816 139391816 G C c.6375G>C Exon (34/34) 134 238 56.30 p.His2125Gln Substitution Non-synonymous HepG2 NOTCH1 NM_017617 Chr9 139391816 139391816 G C c.6375G>C Exon (34/34) 146 263 55.51 p.His2125Gln Substitution Non-synonymous HuH-7 NOTCH2 NM_024408 Chr1 120612002 120612004 CGG C c.19CGG>C Exon (1/34) 33 267 12.36 Deletion Frameshift HuH-7 NOTCH2 NM_024408 Chr1 120612006 120612006 G A c.15G>A Exon (1/34) 126 250 50.40 p.Arg5Arg Substitution Synonymous MHCC97L NOTCH2 NM_024408 Chr1 120612002 120612004 CGG C c.19CGG>C Exon (1/34) 76 149 51.01 Deletion Frameshift Hep3B NOTCH2 NM_024408 Chr1 120612002 120612004 CGG C c.19CGG>C Exon (1/34) 18 103 17.48 Deletion Frameshift Hep2.2.15 NOTCH2 NM_024408 Chr1 120612002 120612004 CGG C c.19CGG>C Exon (1/34) 14 140 10.00 Deletion Frameshift Hep2.2.15 NOTCH2 NM_024408 Chr1 120612006 120612006 G A c.15G>A Exon (1/34) 51 136 37.50 p.Arg5Arg Substitution Synonymous HepG2 NOTCH2 NM_024408 Chr1 120612002 120612004 CGG C c.19CGG>C Exon (1/34) 12 133 9.02 Deletion Frameshift HepG2 NOTCH2 NM_024408 Chr1 120612006 120612006 G A c.15G>A Exon (1/34) 46 126 36.51 p.Arg5Arg Substitution Synonymous SK-HEP-1 NOTCH2 NM_024408 Chr1 120612002 120612004 CGG C c.19CGG>C Exon (1/34) 34 194 17.53 Deletion Frameshift SK-HEP-1 NOTCH2 NM_024408 Chr1 120612006 120612006 G A c.15G>A Exon (1/34) 76 186 40.86 p.Arg5Arg Substitution Synonymous HuH-7 NOTCH3 NM_000435 Chr19 15285063 15285063 G T c.4552G>T Exon (25/33) 297 301 98.67 p.Leu1518Met Substitution Non-synonymous Hep2.2.15 NRAS NM_002524 Chr1 115256529 115256529 T A c.182T>A Exon (3/7) 539 835 64.55 p.Gln61Leu Substitution Non-synonymous HepG2 NRAS NM_002524 Chr1 115256529 115256529 T A c.182T>A Exon (3/7) 425 878 48.41 p.Gln61Leu Substitution Non-synonymous HuH-7 OBSCN NM_052843 Chr1 228469821 228469821 + G A c.8385G>A Exon (31/81) 1,051 1,149 91.47 p.Val2795Val Substitution Synonymous HuH-7 OBSCN NM_052843 Chr1 228522866 228522866 + C T c.16272C>T Exon (62/81) 213 220 96.82 p.Thr5424Thr Substitution Synonymous HuH-7 OBSCN NM_001271223 Chr1 228560700 228560700 + T C c.25092T>C Exon (105/116) 791 800 98.88 p.Asp8364Asp Substitution Synonymous MHCC97L OBSCN NM_052843 Chr1 228456239 228456239 + G C c.4870G>C Exon (17/81) 38 493 7.71 p.Val1624Leu Substitution Non-synonymous MHCC97L OBSCN NM_052843 Chr1 228456261 228456261 + C A c.4892C>A Exon (17/81) 43 543 7.92 p.Pro1631Gln Substitution Non-synonymous MHCC97L OBSCN NM_052843 Chr1 228456262 228456262 + A G c.4893A>G Exon (17/81) 43 551 7.80 p.Pro1631Pro Substitution Synonymous MHCC97L OBSCN NM_052843 Chr1 228456271 228456271 + G C c.4902G>C Exon (17/81) 35 576 6.08 p.Arg1634Ser Substitution Non-synonymous MHCC97L OBSCN NM_052843 Chr1 228456278 228456278 + C A c.4909C>A Exon (17/81) 52 592 8.78 p.Gln1637Lys Substitution Non-synonymous MHCC97L OBSCN NM_052843 Chr1 228456283 228456283 + T A c.4914T>A Exon (17/81) 48 605 7.93 p.Ala1638Ala Substitution Synonymous MHCC97L OBSCN NM_052843 Chr1 228456298 228456298 + T C c.4929T>C Exon (17/81) 46 633 7.27 p.Ser1643Ser Substitution Synonymous MHCC97L OBSCN NM_052843 Chr1 228456304 228456304 + G A c.4935G>A Exon (17/81) 63 662 9.52 p.Thr1645Thr Substitution Synonymous MHCC97L OBSCN NM_052843 Chr1 228456334 228456334 + A T c.4965A>T Exon (17/81) 82 754 10.88 p.Thr1655Thr Substitution Synonymous MHCC97L OBSCN NM_052843 Chr1 228456343 228456343 + G A c.4974G>A Exon (17/81) 83 746 11.13 p.Thr1658Thr Substitution Synonymous MHCC97L OBSCN NM_052843 Chr1 228456348 228456348 + A T c.4979A>T Exon (17/81) 82 743 11.04 p.Tyr1660Phe Substitution Non-synonymous MHCC97L OBSCN NM_052843 Chr1 228456355 228456355 + T C c.4986T>C Exon (17/81) 76 757 10.04 p.Asp1662Asp Substitution Synonymous MHCC97L OBSCN NM_052843 Chr1 228456370 228456370 + T C c.5001T>C Exon (17/81) 92 772 11.92 p.Ser1667Ser Substitution Synonymous MHCC97L OBSCN NM_052843 Chr1 228456382 228456382 + A G c.5013A>G Exon (17/81) 95 776 12.24 p.Lys1671Lys Substitution Synonymous MHCC97L OBSCN NM_052843 Chr1 228456398 228456398 + G T c.5029G>T Exon (17/81) 79 745 10.60 p.Val1677Leu Substitution Non-synonymous MHCC97L OBSCN NM_052843 Chr1 228456399 228456399 + T C c.5030T>C Exon (17/81) 82 740 11.08 p.Val1677Ala Substitution Non-synonymous MHCC97L OBSCN NM_052843 Chr1 228456407 228456407 + A T c.5038A>T Exon (17/81) 79 735 10.75 p.Thr1680Ser Substitution Non-synonymous MHCC97L OBSCN NM_052843 Chr1 228456409 228456409 + A C c.5040A>C Exon (17/81) 81 741 10.93 p.Thr1680Thr Substitution Synonymous MHCC97L OBSCN NM_052843 Chr1 228456410 228456410 + C A c.5041C>A Exon (17/81) 82 744 11.02 p.Arg1681Arg Substitution Synonymous MHCC97L OBSCN NM_052843 Chr1 228456437 228456437 + C A c.5068C>A Exon (17/81) 76 679 11.19 p.Gln1690Lys Substitution Non-synonymous MHCC97L OBSCN NM_052843 Chr1 228456442 228456442 + A G c.5073A>G Exon (17/81) 63 656 9.60 p.Ala1691Ala Substitution Synonymous MHCC97L OBSCN NM_052843 Chr1 228456445 228456445 + G T c.5076G>T Exon (17/81) 65 642 10.12 p.Glu1692Asp Substitution Non-synonymous MHCC97L OBSCN NM_052843 Chr1 228456448 228456448 + C T c.5079C>T Exon (17/81) 65 628 10.35 p.Ala1693Ala Substitution Synonymous MHCC97L OBSCN NM_052843 Chr1 228456469 228456469 + A C c.5100A>C Exon (17/81) 58 570 10.18 p.Ala1700Ala Substitution Synonymous MHCC97L OBSCN NM_052843 Chr1 228456475 228456475 + T A c.5106T>A Exon (17/81) 36 554 6.50 p.Gly1702Gly Substitution Synonymous MHCC97L OBSCN NM_052843 Chr1 228456479 228456479 + C A c.5110C>A Exon (17/81) 56 546 10.26 p.Gln1704Lys Substitution Non-synonymous MHCC97L OBSCN NM_052843 Chr1 228456497 228456497 + C G c.5128C>G Exon (17/81) 38 477 7.97 p.Gln1710Glu Substitution Non-synonymous MHCC97L OBSCN NM_052843 Chr1 228456499 228456499 + G C c.5130G>C Exon (17/81) 33 477 6.92 p.Gln1710His Substitution Non-synonymous MHCC97L OBSCN NM_052843 Chr1 228469821 228469821 + G A c.8385G>A Exon (31/81) 878 1,319 66.57 p.Val2795Val Substitution Synonymous MHCC97L OBSCN NM_001271223 Chr1 228560700 228560700 + T C c.25092T>C Exon (105/116) 957 960 99.69 p.Asp8364Asp Substitution Synonymous Hep3B OBSCN NM_052843 Chr1 228547511 228547511 + G A c.18918G>A Exon (81/81) 38 207 18.36 p.Thr6306Thr Substitution Synonymous Hep3B OBSCN NM_052843 Chr1 228548116 228548116 + C A c.19523C>A Exon (81/81) 60 208 28.85 p.Thr6508Lys Substitution Non-synonymous Hep3B OBSCN NM_001271223 Chr1 228560286 228560286 + C T c.24678C>T Exon (105/116) 738 968 76.24 p.Thr8226Thr Substitution Synonymous Hep3B OBSCN NM_001271223 Chr1 228560700 228560700 + T C c.25092T>C Exon (105/116) 837 840 99.64 p.Asp8364Asp Substitution Synonymous Hep3B OBSCN NM_001271223 Chr1 228566029 228566029 + G A c.26502G>A Exon (115/116) 124 177 70.06 p.Leu8834Leu Substitution Synonymous MHCC97H OBSCN NM_052843 Chr1 228469821 228469821 + G A c.8385G>A Exon (31/81) 496 772 64.25 p.Val2795Val Substitution Synonymous MHCC97H OBSCN NM_001271223 Chr1 228560700 228560700 + T C c.25092T>C Exon (105/116) 569 569 100.00 p.Asp8364Asp Substitution Synonymous Hep2.2.15 OBSCN NM_001271223 Chr1 228559887 228559887 + C T c.24279C>T Exon (105/116) 106 357 29.69 p.Ser8093Ser Substitution Synonymous Hep2.2.15 OBSCN NM_001271223 Chr1 228560700 228560700 + T C c.25092T>C Exon (105/116) 568 574 98.95 p.Asp8364Asp Substitution Synonymous HepG2 OBSCN NM_001271223 Chr1 228560700 228560700 + T C c.25092T>C Exon (105/116) 562 562 100.00 p.Asp8364Asp Substitution Synonymous SK-HEP-1 OBSCN NM_052843 Chr1 228465516 228465516 + T G c.6816T>G Exon (25/81) 401 578 69.38 p.Phe2272Leu Substitution Non-synonymous SK-HEP-1 OBSCN NM_001271223 Chr1 228560700 228560700 + T C c.25092T>C Exon (105/116) 366 555 65.95 p.Asp8364Asp Substitution Synonymous Hep3B OR13G1 NM_001005487 Chr1 247835768 247835768 A G c.576A>G Exon (1/1) 929 1,263 73.56 p.Asn192Asn Substitution Synonymous Hep3B OR13G1 NM_001005487 Chr1 247835961 247835961 T C c.383T>C Exon (1/1) 857 1,150 74.52 p.His128Arg Substitution Non-synonymous HuH-7 OR2T12 NM_001004692 Chr1 248458676 248458676 T C c.205T>C Exon (1/1) 263 267 98.50 p.Met69Val Substitution Non-synonymous HuH-7 OR2T12 NM_001004692 Chr1 248458717 248458717 C G c.164C>G Exon (1/1) 504 507 99.41 p.Arg55Thr Substitution Non-synonymous MHCC97L OR2T12 NM_001004692 Chr1 248458676 248458676 T C c.205T>C Exon (1/1) 321 321 100.00 p.Met69Val Substitution Non-synonymous MHCC97L OR2T12 NM_001004692 Chr1 248458717 248458717 C G c.164C>G Exon (1/1) 591 595 99.33 p.Arg55Thr Substitution Non-synonymous Hep3B OR2T12 NM_001004692 Chr1 248458676 248458676 T C c.205T>C Exon (1/1) 237 327 72.48 p.Met69Val Substitution Non-synonymous MHCC97H OR2T12 NM_001004692 Chr1 248458676 248458676 T C c.205T>C Exon (1/1) 171 171 100.00 p.Met69Val Substitution Non-synonymous MHCC97H OR2T12 NM_001004692 Chr1 248458717 248458717 C G c.164C>G Exon (1/1) 371 371 100.00 p.Arg55Thr Substitution Non-synonymous Hep2.2.15 OR2T12 NM_001004692 Chr1 248458676 248458676 T C c.205T>C Exon (1/1) 166 168 98.81 p.Met69Val Substitution Non-synonymous Hep2.2.15 OR2T12 NM_001004692 Chr1 248458717 248458717 C G c.164C>G Exon (1/1) 315 315 100.00 p.Arg55Thr Substitution Non-synonymous Hep2.2.15 OR2T12 NM_001004692 Chr1 248458875 248458876 CT C c.6CT>C Exon (1/1) 866 897 96.54 Deletion Frameshift HepG2 OR2T12 NM_001004692 Chr1 248458676 248458676 T C c.205T>C Exon (1/1) 153 163 93.87 p.Met69Val Substitution Non-synonymous HepG2 OR2T12 NM_001004692 Chr1 248458717 248458717 C G c.164C>G Exon (1/1) 304 309 98.38 p.Arg55Thr Substitution Non-synonymous HepG2 OR2T12 NM_001004692 Chr1 248458875 248458876 CT C c.6CT>C Exon (1/1) 741 782 94.76 Deletion Frameshift SK-HEP-1 OR2T12 NM_001004692 Chr1 248458676 248458676 T C c.205T>C Exon (1/1) 103 156 66.03 p.Met69Val Substitution Non-synonymous SK-HEP-1 OR2T12 NM_001004692 Chr1 248458717 248458717 C G c.164C>G Exon (1/1) 234 345 67.83 p.Arg55Thr Substitution Non-synonymous Hep3B OR2T2 NM_001004136 Chr1 248616401 248616401 + G A c.303G>A Exon (1/1) 176 263 66.92 p.Gln101Gln Substitution Synonymous Hep3B OR2T2 NM_001004136 Chr1 248616408 248616408 + C T c.310C>T Exon (1/1) 171 256 66.80 p.Leu104Phe Substitution Non-synonymous Hep3B OR2T2 NM_001004136 Chr1 248616418 248616418 + C A c.320C>A Exon (1/1) 88 256 34.38 p.Thr107Asn Substitution Non-synonymous Hep2.2.15 OR2T2 NM_001004136 Chr1 248616401 248616401 + G A c.303G>A Exon (1/1) 48 225 21.33 p.Gln101Gln Substitution Synonymous Hep2.2.15 OR2T2 NM_001004136 Chr1 248616408 248616408 + C T c.310C>T Exon (1/1) 48 226 21.24 p.Leu104Phe Substitution Non-synonymous HepG2 OR2T2 NM_001004136 Chr1 248616401 248616401 + G A c.303G>A Exon (1/1) 36 198 18.18 p.Gln101Gln Substitution Synonymous HepG2 OR2T2 NM_001004136 Chr1 248616408 248616408 + C T c.310C>T Exon (1/1) 36 204 17.65 p.Leu104Phe Substitution Non-synonymous SK-HEP-1 OR2T2 NM_001004136 Chr1 248616401 248616401 + G A c.303G>A Exon (1/1) 22 186 11.83 p.Gln101Gln Substitution Synonymous SK-HEP-1 OR2T2 NM_001004136 Chr1 248616408 248616408 + C T c.310C>T Exon (1/1) 22 197 11.17 p.Leu104Phe Substitution Non-synonymous HuH-7 OR2T4 NM_001004696 Chr1 248525638 248525639 + CA C c.756CA>C Exon (1/1) 633 641 98.75 Deletion Frameshift MHCC97L OR2T4 NM_001004696 Chr1 248525638 248525639 + CA C c.756CA>C Exon (1/1) 771 783 98.47 Deletion Frameshift MHCC97H OR2T4 NM_001004696 Chr1 248525638 248525639 + CA C c.756CA>C Exon (1/1) 406 413 98.31 Deletion Frameshift SK-HEP-1 OR2T4 NM_001004696 Chr1 248525638 248525639 + CA C c.756CA>C Exon (1/1) 280 430 65.12 Deletion Frameshift Hep3B OR4C13 NM_001001955 Chr11 49974473 49974473 + T C c.499T>C Exon (1/1) 267 484 55.17 p.Cys167Arg Substitution Non-synonymous Hep3B OR51A4 NM_001005329 Chr11 4967985 4967985 C G c.346C>G Exon (1/1) 182 2,306 7.89 p.Val116Leu Substitution Non-synonymous Hep2.2.15 OR6F1 NM_001005286 Chr1 247875248 247875248 C A c.810C>A Exon (1/1) 180 786 22.90 p.Leu270Leu Substitution Synonymous HuH-7 OSBPL9 NM_148909 Chr1 52246957 52246957 + G A c.1408G>A Exon (16/24) 48 742 6.47 p.Glu470Lys Substitution Non-synonymous HuH-7 PARS2 NM_152268 Chr1 55223709 55223709 G A c.1126G>A Exon (2/2) 36 719 5.01 p.Pro376Ser Substitution Non-synonymous Hep3B PARS2 NM_152268 Chr1 55223524 55223524 G C c.1311G>C Exon (2/2) 617 619 99.68 p.Gly437Gly Substitution Synonymous MHCC97L PEG3 NM_006210 Chr19 57326753 57326753 G A c.3057G>A Exon (10/10) 1,084 2,271 47.73 p.Tyr1019Tyr Substitution Synonymous MHCC97H PEG3 NM_006210 Chr19 57326753 57326753 G A c.3057G>A Exon (10/10) 423 1,096 38.59 p.Tyr1019Tyr Substitution Synonymous HuH-7 PRSS3 NM_001197097 Chr9 33796721 33796721 + C T c.163C>T Exon (3/6) 59 601 9.82 p.Leu55Leu Substitution Synonymous HuH-7 PRSS3 NM_001197097 Chr9 33796734 33796734 + C A c.176C>A Exon (3/6) 85 659 12.90 p.Ser59Tyr Substitution Non-synonymous HuH-7 PRSS3 NM_001197097 Chr9 33796777 33796777 + A G c.219A>G Exon (3/6) 102 590 17.29 p.Val73Val Substitution Synonymous HuH-7 PRSS3 NM_001197097 Chr9 33796785 33796785 + C G c.227C>G Exon (3/6) 101 556 18.17 p.Ala76Gly Substitution Non-synonymous HuH-7 PRSS3 NM_001197097 Chr9 33796799 33796799 + A T c.241A>T Exon (3/6) 103 511 20.16 p.Thr81Ser Substitution Non-synonymous HuH-7 PRSS3 NM_001197097 Chr9 33797861 33797861 + A G c.277A>G Exon (4/6) 222 779 28.50 p.Lys93Glu Substitution Non-synonymous HuH-7 PRSS3 NM_001197097 Chr9 33797881 33797881 + G A c.297G>A Exon (4/6) 325 999 32.53 p.Glu99Glu Substitution Synonymous HuH-7 PRSS3 NM_001197097 Chr9 33797917 33797917 + T C c.333T>C Exon (4/6) 432 1,296 33.33 p.Pro111Pro Substitution Synonymous HuH-7 PRSS3 NM_001197097 Chr9 33797928 33797928 + G GCC c.344G>GCC Exon (4/6) 352 1,342 26.23 Insertion Frameshift HuH-7 PRSS3 NM_001197097 Chr9 33797930 33797932 + GAC G c.346GAC>G Exon (4/6) 362 1,360 26.62 Deletion Frameshift HuH-7 PRSS3 NM_001197097 Chr9 33797930 33797930 + G C c.346G>C Exon (4/6) 83 1,360 6.10 p.Asp116His Substitution Non-synonymous HuH-7 PRSS3 NM_001197097 Chr9 33797931 33797931 + A G c.347A>G Exon (4/6) 79 1,348 5.86 p.Asp116Gly Substitution Non-synonymous HuH-7 PRSS3 NM_001197097 Chr9 33797951 33797951 + A C c.367A>C Exon (4/6) 457 1,366 33.46 p.Met123Leu Substitution Non-synonymous HuH-7 PRSS3 NM_001197097 Chr9 33797962 33797962 + A G c.378A>G Exon (4/6) 462 1,313 35.19 p.Lys126Lys Substitution Synonymous HuH-7 PRSS3 NM_001197097 Chr9 33797987 33797987 + G T c.403G>T Exon (4/6) 451 1,193 37.80 p.Ala135Ser Substitution Non-synonymous HuH-7 PRSS3 NM_001197097 Chr9 33797999 33797999 + A G c.415A>G Exon (4/6) 422 1,085 38.89 p.Thr139Ala Substitution Non-synonymous HuH-7 PRSS3 NM_001197097 Chr9 33798016 33798016 + C T c.432C>T Exon (4/6) 346 915 37.81 p.Thr144Thr Substitution Synonymous HuH-7 PRSS3 NM_001197097 Chr9 33798017 33798017 + A G c.433A>G Exon (4/6) 882 885 99.66 p.Thr145Ala Substitution Non-synonymous HuH-7 PRSS3 NM_001197097 Chr9 33798037 33798037 + T C c.453T>C Exon (4/6) 281 754 37.27 p.Thr151Thr Substitution Synonymous HuH-7 PRSS3 NM_001197097 Chr9 33798042 33798042 + G C c.458G>C Exon (4/6) 262 718 36.49 p.Cys153Ser Substitution Non-synonymous HuH-7 PRSS3 NM_001197097 Chr9 33798073 33798073 + C T c.489C>T Exon (4/6) 177 485 36.49 p.Ser163Ser Substitution Synonymous HuH-7 PRSS3 NM_001197097 Chr9 33798075 33798075 + T C c.491T>C Exon (4/6) 161 465 34.62 p.Phe164Ser Substitution Non-synonymous MHCC97L PRSS3 NM_001197097 Chr9 33796660 33796660 + T C c.102T>C Exon (3/6) 294 830 35.42 p.Asp34Asp Substitution Synonymous MHCC97L PRSS3 NM_001197097 Chr9 33796672 33796672 + T C c.114T>C Exon (3/6) 360 973 37.00 p.Ile38Ile Substitution Synonymous MHCC97L PRSS3 NM_001197097 Chr9 33796673 33796673 + G A c.115G>A Exon (3/6) 364 997 36.51 p.Val39Ile Substitution Non-synonymous MHCC97L PRSS3 NM_001197097 Chr9 33796734 33796734 + C A c.176C>A Exon (3/6) 90 1,635 5.50 p.Ser59Tyr Substitution Non-synonymous MHCC97L PRSS3 NM_001197097 Chr9 33796777 33796777 + A G c.219A>G Exon (3/6) 119 1,477 8.06 p.Val73Val Substitution Synonymous MHCC97L PRSS3 NM_001197097 Chr9 33796785 33796785 + C G c.227C>G Exon (3/6) 120 1,370 8.76 p.Ala76Gly Substitution Non-synonymous MHCC97L PRSS3 NM_001197097 Chr9 33796799 33796799 + A T c.241A>T Exon (3/6) 432 1,127 38.33 p.Thr81Ser Substitution Non-synonymous MHCC97L PRSS3 NM_001197097 Chr9 33797861 33797861 + A G c.277A>G Exon (4/6) 196 1,163 16.85 p.Lys93Glu Substitution Non-synonymous MHCC97L PRSS3 NM_001197097 Chr9 33797881 33797881 + G A c.297G>A Exon (4/6) 285 1,471 19.37 p.Glu99Glu Substitution Synonymous MHCC97L PRSS3 NM_001197097 Chr9 33797917 33797917 + T C c.333T>C Exon (4/6) 402 1,965 20.46 p.Pro111Pro Substitution Synonymous MHCC97L PRSS3 NM_001197097 Chr9 33797928 33797928 + G GCC c.344G>GCC Exon (4/6) 336 2,065 16.27 Insertion Frameshift MHCC97L PRSS3 NM_001197097 Chr9 33797930 33797932 + GAC G c.346GAC>G Exon (4/6) 348 2,071 16.80 Deletion Frameshift MHCC97L PRSS3 NM_001197097 Chr9 33797951 33797951 + A C c.367A>C Exon (4/6) 467 2,129 21.94 p.Met123Leu Substitution Non-synonymous MHCC97L PRSS3 NM_001197097 Chr9 33797962 33797962 + A G c.378A>G Exon (4/6) 457 2,057 22.22 p.Lys126Lys Substitution Synonymous MHCC97L PRSS3 NM_001197097 Chr9 33797987 33797987 + G T c.403G>T Exon (4/6) 440 1,804 24.39 p.Ala135Ser Substitution Non-synonymous MHCC97L PRSS3 NM_001197097 Chr9 33797999 33797999 + A G c.415A>G Exon (4/6) 398 1,622 24.54 p.Thr139Ala Substitution Non-synonymous MHCC97L PRSS3 NM_001197097 Chr9 33798016 33798016 + C T c.432C>T Exon (4/6) 319 1,374 23.22 p.Thr144Thr Substitution Synonymous MHCC97L PRSS3 NM_001197097 Chr9 33798017 33798017 + A G c.433A>G Exon (4/6) 1,360 1,365 99.63 p.Thr145Ala Substitution Non-synonymous MHCC97L PRSS3 NM_001197097 Chr9 33798037 33798037 + T C c.453T>C Exon (4/6) 255 1,135 22.47 p.Thr151Thr Substitution Synonymous MHCC97L PRSS3 NM_001197097 Chr9 33798042 33798042 + G C c.458G>C Exon (4/6) 241 1,078 22.36 p.Cys153Ser Substitution Non-synonymous MHCC97L PRSS3 NM_001197097 Chr9 33798073 33798073 + C T c.489C>T Exon (4/6) 127 646 19.66 p.Ser163Ser Substitution Synonymous MHCC97L PRSS3 NM_001197097 Chr9 33798075 33798075 + T C c.491T>C Exon (4/6) 120 620 19.35 p.Phe164Ser Substitution Non-synonymous Hep3B PRSS3 NM_001197097 Chr9 33796686 33796686 + C A c.128C>A Exon (3/6) 21 343 6.12 p.Thr43Asn Substitution Non-synonymous Hep3B PRSS3 NM_001197097 Chr9 33796703 33796703 + C G c.145C>G Exon (3/6) 49 414 11.84 p.Leu49Val Substitution Non-synonymous Hep3B PRSS3 NM_001197097 Chr9 33796721 33796721 + C T c.163C>T Exon (3/6) 39 489 7.98 p.Leu55Leu Substitution Synonymous Hep3B PRSS3 NM_001197097 Chr9 33796734 33796734 + C A c.176C>A Exon (3/6) 97 524 18.51 p.Ser59Tyr Substitution Non-synonymous Hep3B PRSS3 NM_001197097 Chr9 33796744 33796744 + C T c.186C>T Exon (3/6) 40 549 7.29 p.Cys62Cys Substitution Synonymous Hep3B PRSS3 NM_001197097 Chr9 33796746 33796746 + G T c.188G>T Exon (3/6) 39 548 7.12 p.Gly63Val Substitution Non-synonymous Hep3B PRSS3 NM_001197097 Chr9 33796758 33796758 + T A c.200T>A Exon (3/6) 42 527 7.97 p.Ile67Asn Substitution Non-synonymous Hep3B PRSS3 NM_001197097 Chr9 33796762 33796762 + C G c.204C>G Exon (3/6) 42 519 8.09 p.Ser68Arg Substitution Non-synonymous Hep3B PRSS3 NM_001197097 Chr9 33796766 33796766 + C T c.208C>T Exon (3/6) 42 509 8.25 p.Gln70* Substitution Stop-codon-gain Hep3B PRSS3 NM_001197097 Chr9 33796777 33796777 + A G c.219A>G Exon (3/6) 118 486 24.28 p.Val73Val Substitution Synonymous Hep3B PRSS3 NM_001197097 Chr9 33796785 33796785 + C G c.227C>G Exon (3/6) 77 461 16.70 p.Ala76Gly Substitution Non-synonymous Hep3B PRSS3 NM_001197097 Chr9 33796799 33796799 + A T c.241A>T Exon (3/6) 121 421 28.74 p.Thr81Ser Substitution Non-synonymous Hep3B PRSS3 NM_001197097 Chr9 33797861 33797861 + A G c.277A>G Exon (4/6) 61 534 11.42 p.Lys93Glu Substitution Non-synonymous Hep3B PRSS3 NM_001197097 Chr9 33797881 33797881 + G A c.297G>A Exon (4/6) 129 684 18.86 p.Glu99Glu Substitution Synonymous Hep3B PRSS3 NM_001197097 Chr9 33797891 33797891 + A T c.307A>T Exon (4/6) 55 756 7.28 p.Asn103Tyr Substitution Non-synonymous Hep3B PRSS3 NM_001197097 Chr9 33797896 33797896 + G A c.312G>A Exon (4/6) 109 785 13.89 p.Ala104Ala Substitution Synonymous Hep3B PRSS3 NM_001197097 Chr9 33797898 33797898 + C T c.314C>T Exon (4/6) 56 790 7.09 p.Ala105Val Substitution Non-synonymous Hep3B PRSS3 NM_001197097 Chr9 33797917 33797917 + T C c.333T>C Exon (4/6) 219 941 23.27 p.Pro111Pro Substitution Synonymous Hep3B PRSS3 NM_001197097 Chr9 33797928 33797928 + G GCC c.344G>GCC Exon (4/6) 114 972 11.73 Insertion Frameshift Hep3B PRSS3 NM_001197097 Chr9 33797929 33797929 + G C c.345G>C Exon (4/6) 86 975 8.82 p.Arg115Ser Substitution Non-synonymous Hep3B PRSS3 NM_001197097 Chr9 33797930 33797932 + GAC G c.346GAC>G Exon (4/6) 152 1,001 15.18 Deletion Frameshift Hep3B PRSS3 NM_001197097 Chr9 33797930 33797930 + G T c.346G>T Exon (4/6) 54 1,001 5.39 p.Asp116Tyr Substitution Non-synonymous Hep3B PRSS3 NM_001197097 Chr9 33797930 33797930 + G C c.346G>C Exon (4/6) 53 1,001 5.29 p.Asp116His Substitution Non-synonymous Hep3B PRSS3 NM_001197097 Chr9 33797931 33797931 + A G c.347A>G Exon (4/6) 106 983 10.78 p.Asp116Gly Substitution Non-synonymous Hep3B PRSS3 NM_001197097 Chr9 33797932 33797932 + C G c.348C>G Exon (4/6) 89 972 9.16 p.Asp116Glu Substitution Non-synonymous Hep3B PRSS3 NM_001197097 Chr9 33797951 33797951 + A C c.367A>C Exon (4/6) 289 1,028 28.11 p.Met123Leu Substitution Non-synonymous Hep3B PRSS3 NM_001197097 Chr9 33797962 33797962 + A G c.378A>G Exon (4/6) 290 991 29.26 p.Lys126Lys Substitution Synonymous Hep3B PRSS3 NM_001197097 Chr9 33797969 33797969 + T A c.385T>A Exon (4/6) 105 950 11.05 p.Ser129Thr Substitution Non-synonymous Hep3B PRSS3 NM_001197097 Chr9 33797987 33797987 + G T c.403G>T Exon (4/6) 183 876 20.89 p.Ala135Ser Substitution Non-synonymous Hep3B PRSS3 NM_001197097 Chr9 33797991 33797991 + G A c.407G>A Exon (4/6) 106 851 12.46 p.Arg136His Substitution Non-synonymous Hep3B PRSS3 NM_001197097 Chr9 33797992 33797992 + C T c.408C>T Exon (4/6) 105 844 12.44 p.Arg136Arg Substitution Synonymous Hep3B PRSS3 NM_001197097 Chr9 33797999 33797999 + A G c.415A>G Exon (4/6) 183 797 22.96 p.Thr139Ala Substitution Non-synonymous Hep3B PRSS3 NM_001197097 Chr9 33798016 33798016 + C T c.432C>T Exon (4/6) 160 704 22.73 p.Thr144Thr Substitution Synonymous Hep3B PRSS3 NM_001197097 Chr9 33798017 33798017 + A G c.433A>G Exon (4/6) 591 700 84.43 p.Thr145Ala Substitution Non-synonymous Hep3B PRSS3 NM_001197097 Chr9 33798037 33798037 + T C c.453T>C Exon (4/6) 134 607 22.08 p.Thr151Thr Substitution Synonymous Hep3B PRSS3 NM_001197097 Chr9 33798042 33798042 + G C c.458G>C Exon (4/6) 134 582 23.02 p.Cys153Ser Substitution Non-synonymous Hep3B PRSS3 NM_001197097 Chr9 33798052 33798052 + C T c.468C>T Exon (4/6) 101 547 18.46 p.Ser156Ser Substitution Synonymous Hep3B PRSS3 NM_001197097 Chr9 33798073 33798073 + C T c.489C>T Exon (4/6) 152 384 39.58 p.Ser163Ser Substitution Synonymous Hep3B PRSS3 NM_001197097 Chr9 33798075 33798075 + T C c.491T>C Exon (4/6) 137 358 38.27 p.Phe164Ser Substitution Non-synonymous Hep3B PRSS3 NM_001197097 Chr9 33798079 33798079 + T C c.495T>C Exon (4/6) 55 342 16.08 p.Gly165Gly Substitution Synonymous MHCC97H PRSS3 NM_001197097 Chr9 33796660 33796660 + T C c.102T>C Exon (3/6) 186 481 38.67 p.Asp34Asp Substitution Synonymous MHCC97H PRSS3 NM_001197097 Chr9 33796672 33796672 + T C c.114T>C Exon (3/6) 229 565 40.53 p.Ile38Ile Substitution Synonymous MHCC97H PRSS3 NM_001197097 Chr9 33796673 33796673 + G A c.115G>A Exon (3/6) 237 580 40.86 p.Val39Ile Substitution Non-synonymous MHCC97H PRSS3 NM_001197097 Chr9 33796734 33796734 + C A c.176C>A Exon (3/6) 64 1,027 6.23 p.Ser59Tyr Substitution Non-synonymous MHCC97H PRSS3 NM_001197097 Chr9 33796777 33796777 + A G c.219A>G Exon (3/6) 73 889 8.21 p.Val73Val Substitution Synonymous MHCC97H PRSS3 NM_001197097 Chr9 33796785 33796785 + C G c.227C>G Exon (3/6) 74 814 9.09 p.Ala76Gly Substitution Non-synonymous MHCC97H PRSS3 NM_001197097 Chr9 33796799 33796799 + A T c.241A>T Exon (3/6) 314 694 45.24 p.Thr81Ser Substitution Non-synonymous MHCC97H PRSS3 NM_001197097 Chr9 33797861 33797861 + A G c.277A>G Exon (4/6) 143 726 19.70 p.Lys93Glu Substitution Non-synonymous MHCC97H PRSS3 NM_001197097 Chr9 33797881 33797881 + G A c.297G>A Exon (4/6) 188 910 20.66 p.Glu99Glu Substitution Synonymous MHCC97H PRSS3 NM_001197097 Chr9 33797917 33797917 + T C c.333T>C Exon (4/6) 272 1,236 22.01 p.Pro111Pro Substitution Synonymous MHCC97H PRSS3 NM_001197097 Chr9 33797928 33797928 + G GCC c.344G>GCC Exon (4/6) 232 1,266 18.33 Insertion Frameshift MHCC97H PRSS3 NM_001197097 Chr9 33797930 33797932 + GAC G c.346GAC>G Exon (4/6) 240 1,271 18.88 Deletion Frameshift MHCC97H PRSS3 NM_001197097 Chr9 33797951 33797951 + A C c.367A>C Exon (4/6) 296 1,292 22.91 p.Met123Leu Substitution Non-synonymous MHCC97H PRSS3 NM_001197097 Chr9 33797962 33797962 + A G c.378A>G Exon (4/6) 290 1,212 23.93 p.Lys126Lys Substitution Synonymous MHCC97H PRSS3 NM_001197097 Chr9 33797987 33797987 + G T c.403G>T Exon (4/6) 286 1,056 27.08 p.Ala135Ser Substitution Non-synonymous MHCC97H PRSS3 NM_001197097 Chr9 33797999 33797999 + A G c.415A>G Exon (4/6) 266 955 27.85 p.Thr139Ala Substitution Non-synonymous MHCC97H PRSS3 NM_001197097 Chr9 33798016 33798016 + C T c.432C>T Exon (4/6) 208 794 26.20 p.Thr144Thr Substitution Synonymous MHCC97H PRSS3 NM_001197097 Chr9 33798017 33798017 + A G c.433A>G Exon (4/6) 768 772 99.48 p.Thr145Ala Substitution Non-synonymous MHCC97H PRSS3 NM_001197097 Chr9 33798037 33798037 + T C c.453T>C Exon (4/6) 149 606 24.59 p.Thr151Thr Substitution Synonymous MHCC97H PRSS3 NM_001197097 Chr9 33798042 33798042 + G C c.458G>C Exon (4/6) 134 567 23.63 p.Cys153Ser Substitution Non-synonymous MHCC97H PRSS3 NM_001197097 Chr9 33798073 33798073 + C T c.489C>T Exon (4/6) 83 365 22.74 p.Ser163Ser Substitution Synonymous MHCC97H PRSS3 NM_001197097 Chr9 33798075 33798075 + T C c.491T>C Exon (4/6) 81 356 22.75 p.Phe164Ser Substitution Non-synonymous Hep2.2.15 PRSS3 NM_001197097 Chr9 33796660 33796660 + T C c.102T>C Exon (3/6) 127 301 42.19 p.Asp34Asp Substitution Synonymous Hep2.2.15 PRSS3 NM_001197097 Chr9 33796672 33796672 + T C c.114T>C Exon (3/6) 149 334 44.61 p.Ile38Ile Substitution Synonymous Hep2.2.15 PRSS3 NM_001197097 Chr9 33796673 33796673 + G A c.115G>A Exon (3/6) 152 348 43.68 p.Val39Ile Substitution Non-synonymous Hep2.2.15 PRSS3 NM_001197097 Chr9 33796703 33796703 + C G c.145C>G Exon (3/6) 25 487 5.13 p.Leu49Val Substitution Non-synonymous Hep2.2.15 PRSS3 NM_001197097 Chr9 33796721 33796721 + C T c.163C>T Exon (3/6) 46 582 7.90 p.Leu55Leu Substitution Synonymous Hep2.2.15 PRSS3 NM_001197097 Chr9 33796734 33796734 + C A c.176C>A Exon (3/6) 78 621 12.56 p.Ser59Tyr Substitution Non-synonymous Hep2.2.15 PRSS3 NM_001197097 Chr9 33796777 33796777 + A G c.219A>G Exon (3/6) 93 566 16.43 p.Val73Val Substitution Synonymous Hep2.2.15 PRSS3 NM_001197097 Chr9 33796785 33796785 + C G c.227C>G Exon (3/6) 80 537 14.90 p.Ala76Gly Substitution Non-synonymous Hep2.2.15 PRSS3 NM_001197097 Chr9 33796799 33796799 + A T c.241A>T Exon (3/6) 203 479 42.38 p.Thr81Ser Substitution Non-synonymous Hep2.2.15 PRSS3 NM_001197097 Chr9 33797861 33797861 + A G c.277A>G Exon (4/6) 113 480 23.54 p.Lys93Glu Substitution Non-synonymous Hep2.2.15 PRSS3 NM_001197097 Chr9 33797881 33797881 + G A c.297G>A Exon (4/6) 180 615 29.27 p.Glu99Glu Substitution Synonymous Hep2.2.15 PRSS3 NM_001197097 Chr9 33797896 33797896 + G A c.312G>A Exon (4/6) 53 720 7.36 p.Ala104Ala Substitution Synonymous Hep2.2.15 PRSS3 NM_001197097 Chr9 33797917 33797917 + T C c.333T>C Exon (4/6) 274 843 32.50 p.Pro111Pro Substitution Synonymous Hep2.2.15 PRSS3 NM_001197097 Chr9 33797928 33797928 + G GCC c.344G>GCC Exon (4/6) 198 875 22.63 Insertion Frameshift Hep2.2.15 PRSS3 NM_001197097 Chr9 33797929 33797929 + G C c.345G>C Exon (4/6) 49 855 5.73 p.Arg115Ser Substitution Non-synonymous Hep2.2.15 PRSS3 NM_001197097 Chr9 33797930 33797932 + GAC G c.346GAC>G Exon (4/6) 230 892 25.78 Deletion Frameshift Hep2.2.15 PRSS3 NM_001197097 Chr9 33797931 33797931 + A G c.347A>G Exon (4/6) 56 865 6.47 p.Asp116Gly Substitution Non-synonymous Hep2.2.15 PRSS3 NM_001197097 Chr9 33797932 33797932 + C G c.348C>G Exon (4/6) 49 865 5.66 p.Asp116Glu Substitution Non-synonymous Hep2.2.15 PRSS3 NM_001197097 Chr9 33797951 33797951 + A C c.367A>C Exon (4/6) 322 917 35.11 p.Met123Leu Substitution Non-synonymous Hep2.2.15 PRSS3 NM_001197097 Chr9 33797962 33797962 + A G c.378A>G Exon (4/6) 318 887 35.85 p.Lys126Lys Substitution Synonymous Hep2.2.15 PRSS3 NM_001197097 Chr9 33797969 33797969 + T A c.385T>A Exon (4/6) 44 876 5.02 p.Ser129Thr Substitution Non-synonymous Hep2.2.15 PRSS3 NM_001197097 Chr9 33797987 33797987 + G T c.403G>T Exon (4/6) 275 817 33.66 p.Ala135Ser Substitution Non-synonymous Hep2.2.15 PRSS3 NM_001197097 Chr9 33797991 33797991 + G A c.407G>A Exon (4/6) 49 786 6.23 p.Arg136His Substitution Non-synonymous Hep2.2.15 PRSS3 NM_001197097 Chr9 33797992 33797992 + C T c.408C>T Exon (4/6) 48 778 6.17 p.Arg136Arg Substitution Synonymous Hep2.2.15 PRSS3 NM_001197097 Chr9 33797999 33797999 + A G c.415A>G Exon (4/6) 258 741 34.82 p.Thr139Ala Substitution Non-synonymous Hep2.2.15 PRSS3 NM_001197097 Chr9 33798016 33798016 + C T c.432C>T Exon (4/6) 216 648 33.33 p.Thr144Thr Substitution Synonymous Hep2.2.15 PRSS3 NM_001197097 Chr9 33798017 33798017 + A G c.433A>G Exon (4/6) 589 638 92.32 p.Thr145Ala Substitution Non-synonymous Hep2.2.15 PRSS3 NM_001197097 Chr9 33798037 33798037 + T C c.453T>C Exon (4/6) 176 561 31.37 p.Thr151Thr Substitution Synonymous Hep2.2.15 PRSS3 NM_001197097 Chr9 33798042 33798042 + G C c.458G>C Exon (4/6) 170 534 31.84 p.Cys153Ser Substitution Non-synonymous Hep2.2.15 PRSS3 NM_001197097 Chr9 33798052 33798052 + C T c.468C>T Exon (4/6) 46 496 9.27 p.Ser156Ser Substitution Synonymous Hep2.2.15 PRSS3 NM_001197097 Chr9 33798073 33798073 + C T c.489C>T Exon (4/6) 135 363 37.19 p.Ser163Ser Substitution Synonymous Hep2.2.15 PRSS3 NM_001197097 Chr9 33798075 33798075 + T C c.491T>C Exon (4/6) 126 349 36.10 p.Phe164Ser Substitution Non-synonymous Hep2.2.15 PRSS3 NM_001197097 Chr9 33798079 33798079 + T C c.495T>C Exon (4/6) 24 333 7.21 p.Gly165Gly Substitution Synonymous HepG2 PRSS3 NM_001197097 Chr9 33796660 33796660 + T C c.102T>C Exon (3/6) 114 294 38.78 p.Asp34Asp Substitution Synonymous HepG2 PRSS3 NM_001197097 Chr9 33796672 33796672 + T C c.114T>C Exon (3/6) 119 322 36.96 p.Ile38Ile Substitution Synonymous HepG2 PRSS3 NM_001197097 Chr9 33796673 33796673 + G A c.115G>A Exon (3/6) 125 338 36.98 p.Val39Ile Substitution Non-synonymous HepG2 PRSS3 NM_001197097 Chr9 33796703 33796703 + C G c.145C>G Exon (3/6) 25 490 5.10 p.Leu49Val Substitution Non-synonymous HepG2 PRSS3 NM_001197097 Chr9 33796721 33796721 + C T c.163C>T Exon (3/6) 34 557 6.10 p.Leu55Leu Substitution Synonymous HepG2 PRSS3 NM_001197097 Chr9 33796734 33796734 + C A c.176C>A Exon (3/6) 62 594 10.44 p.Ser59Tyr Substitution Non-synonymous HepG2 PRSS3 NM_001197097 Chr9 33796777 33796777 + A G c.219A>G Exon (3/6) 77 534 14.42 p.Val73Val Substitution Synonymous HepG2 PRSS3 NM_001197097 Chr9 33796785 33796785 + C G c.227C>G Exon (3/6) 68 509 13.36 p.Ala76Gly Substitution Non-synonymous HepG2 PRSS3 NM_001197097 Chr9 33796799 33796799 + A T c.241A>T Exon (3/6) 209 442 47.29 p.Thr81Ser Substitution Non-synonymous HepG2 PRSS3 NM_001197097 Chr9 33797861 33797861 + A G c.277A>G Exon (4/6) 64 443 14.45 p.Lys93Glu Substitution Non-synonymous HepG2 PRSS3 NM_001197097 Chr9 33797881 33797881 + G A c.297G>A Exon (4/6) 105 560 18.75 p.Glu99Glu Substitution Synonymous HepG2 PRSS3 NM_001197097 Chr9 33797896 33797896 + G A c.312G>A Exon (4/6) 41 667 6.15 p.Ala104Ala Substitution Synonymous HepG2 PRSS3 NM_001197097 Chr9 33797917 33797917 + T C c.333T>C Exon (4/6) 179 798 22.43 p.Pro111Pro Substitution Synonymous HepG2 PRSS3 NM_001197097 Chr9 33797928 33797928 + G GCC c.344G>GCC Exon (4/6) 117 828 14.13 Insertion Frameshift HepG2 PRSS3 NM_001197097 Chr9 33797929 33797929 + G C c.345G>C Exon (4/6) 43 822 5.23 p.Arg115Ser Substitution Non-synonymous HepG2 PRSS3 NM_001197097 Chr9 33797930 33797932 + GAC G c.346GAC>G Exon (4/6) 141 846 16.67 Deletion Frameshift HepG2 PRSS3 NM_001197097 Chr9 33797931 33797931 + A G c.347A>G Exon (4/6) 52 836 6.22 p.Asp116Gly Substitution Non-synonymous HepG2 PRSS3 NM_001197097 Chr9 33797951 33797951 + A C c.367A>C Exon (4/6) 232 883 26.27 p.Met123Leu Substitution Non-synonymous HepG2 PRSS3 NM_001197097 Chr9 33797962 33797962 + A G c.378A>G Exon (4/6) 235 860 27.33 p.Lys126Lys Substitution Synonymous HepG2 PRSS3 NM_001197097 Chr9 33797969 33797969 + T A c.385T>A Exon (4/6) 52 833 6.24 p.Ser129Thr Substitution Non-synonymous HepG2 PRSS3 NM_001197097 Chr9 33797987 33797987 + G T c.403G>T Exon (4/6) 186 763 24.38 p.Ala135Ser Substitution Non-synonymous HepG2 PRSS3 NM_001197097 Chr9 33797991 33797991 + G A c.407G>A Exon (4/6) 53 754 7.03 p.Arg136His Substitution Non-synonymous HepG2 PRSS3 NM_001197097 Chr9 33797992 33797992 + C T c.408C>T Exon (4/6) 54 749 7.21 p.Arg136Arg Substitution Synonymous HepG2 PRSS3 NM_001197097 Chr9 33797999 33797999 + A G c.415A>G Exon (4/6) 174 712 24.44 p.Thr139Ala Substitution Non-synonymous HepG2 PRSS3 NM_001197097 Chr9 33798016 33798016 + C T c.432C>T Exon (4/6) 152 620 24.52 p.Thr144Thr Substitution Synonymous HepG2 PRSS3 NM_001197097 Chr9 33798017 33798017 + A G c.433A>G Exon (4/6) 551 604 91.23 p.Thr145Ala Substitution Non-synonymous HepG2 PRSS3 NM_001197097 Chr9 33798037 33798037 + T C c.453T>C Exon (4/6) 118 530 22.26 p.Thr151Thr Substitution Synonymous HepG2 PRSS3 NM_001197097 Chr9 33798042 33798042 + G C c.458G>C Exon (4/6) 111 503 22.07 p.Cys153Ser Substitution Non-synonymous HepG2 PRSS3 NM_001197097 Chr9 33798052 33798052 + C T c.468C>T Exon (4/6) 51 457 11.16 p.Ser156Ser Substitution Synonymous HepG2 PRSS3 NM_001197097 Chr9 33798073 33798073 + C T c.489C>T Exon (4/6) 99 314 31.53 p.Ser163Ser Substitution Synonymous HepG2 PRSS3 NM_001197097 Chr9 33798075 33798075 + T C c.491T>C Exon (4/6) 95 303 31.35 p.Phe164Ser Substitution Non-synonymous HepG2 PRSS3 NM_001197097 Chr9 33798079 33798079 + T C c.495T>C Exon (4/6) 33 292 11.30 p.Gly165Gly Substitution Synonymous SK-HEP-1 PRSS3 NM_001197097 Chr9 33796660 33796660 + T C c.102T>C Exon (3/6) 89 221 40.27 p.Asp34Asp Substitution Synonymous SK-HEP-1 PRSS3 NM_001197097 Chr9 33796672 33796672 + T C c.114T>C Exon (3/6) 103 238 43.28 p.Ile38Ile Substitution Synonymous SK-HEP-1 PRSS3 NM_001197097 Chr9 33796673 33796673 + G A c.115G>A Exon (3/6) 108 246 43.90 p.Val39Ile Substitution Non-synonymous SK-HEP-1 PRSS3 NM_001197097 Chr9 33796703 33796703 + C G c.145C>G Exon (3/6) 35 369 9.49 p.Leu49Val Substitution Non-synonymous SK-HEP-1 PRSS3 NM_001197097 Chr9 33796721 33796721 + C T c.163C>T Exon (3/6) 47 435 10.80 p.Leu55Leu Substitution Synonymous SK-HEP-1 PRSS3 NM_001197097 Chr9 33796734 33796734 + C A c.176C>A Exon (3/6) 74 456 16.23 p.Ser59Tyr Substitution Non-synonymous SK-HEP-1 PRSS3 NM_001197097 Chr9 33796777 33796777 + A G c.219A>G Exon (3/6) 83 395 21.01 p.Val73Val Substitution Synonymous SK-HEP-1 PRSS3 NM_001197097 Chr9 33796785 33796785 + C G c.227C>G Exon (3/6) 68 369 18.43 p.Ala76Gly Substitution Non-synonymous SK-HEP-1 PRSS3 NM_001197097 Chr9 33796799 33796799 + A T c.241A>T Exon (3/6) 165 299 55.18 p.Thr81Ser Substitution Non-synonymous SK-HEP-1 PRSS3 NM_001197097 Chr9 33797861 33797861 + A G c.277A>G Exon (4/6) 79 308 25.65 p.Lys93Glu Substitution Non-synonymous SK-HEP-1 PRSS3 NM_001197097 Chr9 33797881 33797881 + G A c.297G>A Exon (4/6) 148 445 33.26 p.Glu99Glu Substitution Synonymous SK-HEP-1 PRSS3 NM_001197097 Chr9 33797896 33797896 + G A c.312G>A Exon (4/6) 48 553 8.68 p.Ala104Ala Substitution Synonymous SK-HEP-1 PRSS3 NM_001197097 Chr9 33797917 33797917 + T C c.333T>C Exon (4/6) 230 646 35.60 p.Pro111Pro Substitution Synonymous SK-HEP-1 PRSS3 NM_001197097 Chr9 33797928 33797928 + G GCC c.344G>GCC Exon (4/6) 173 673 25.71 Insertion Frameshift SK-HEP-1 PRSS3 NM_001197097 Chr9 33797929 33797929 + G C c.345G>C Exon (4/6) 43 664 6.48 p.Arg115Ser Substitution Non-synonymous SK-HEP-1 PRSS3 NM_001197097 Chr9 33797930 33797932 + GAC G c.346GAC>G Exon (4/6) 181 681 26.58 Deletion Frameshift SK-HEP-1 PRSS3 NM_001197097 Chr9 33797930 33797930 + G C c.346G>C Exon (4/6) 35 681 5.14 p.Asp116His Substitution Non-synonymous SK-HEP-1 PRSS3 NM_001197097 Chr9 33797931 33797931 + A G c.347A>G Exon (4/6) 54 671 8.05 p.Asp116Gly Substitution Non-synonymous SK-HEP-1 PRSS3 NM_001197097 Chr9 33797932 33797932 + C G c.348C>G Exon (4/6) 45 667 6.75 p.Asp116Glu Substitution Non-synonymous SK-HEP-1 PRSS3 NM_001197097 Chr9 33797951 33797951 + A C c.367A>C Exon (4/6) 277 721 38.42 p.Met123Leu Substitution Non-synonymous SK-HEP-1 PRSS3 NM_001197097 Chr9 33797962 33797962 + A G c.378A>G Exon (4/6) 282 703 40.11 p.Lys126Lys Substitution Synonymous SK-HEP-1 PRSS3 NM_001197097 Chr9 33797969 33797969 + T A c.385T>A Exon (4/6) 44 691 6.37 p.Ser129Thr Substitution Non-synonymous SK-HEP-1 PRSS3 NM_001197097 Chr9 33797987 33797987 + G T c.403G>T Exon (4/6) 235 656 35.82 p.Ala135Ser Substitution Non-synonymous SK-HEP-1 PRSS3 NM_001197097 Chr9 33797991 33797991 + G A c.407G>A Exon (4/6) 44 630 6.98 p.Arg136His Substitution Non-synonymous SK-HEP-1 PRSS3 NM_001197097 Chr9 33797992 33797992 + C T c.408C>T Exon (4/6) 44 635 6.93 p.Arg136Arg Substitution Synonymous SK-HEP-1 PRSS3 NM_001197097 Chr9 33797999 33797999 + A G c.415A>G Exon (4/6) 214 595 35.97 p.Thr139Ala Substitution Non-synonymous SK-HEP-1 PRSS3 NM_001197097 Chr9 33798016 33798016 + C T c.432C>T Exon (4/6) 187 501 37.33 p.Thr144Thr Substitution Synonymous SK-HEP-1 PRSS3 NM_001197097 Chr9 33798017 33798017 + A G c.433A>G Exon (4/6) 444 493 90.06 p.Thr145Ala Substitution Non-synonymous SK-HEP-1 PRSS3 NM_001197097 Chr9 33798037 33798037 + T C c.453T>C Exon (4/6) 134 385 34.81 p.Thr151Thr Substitution Synonymous SK-HEP-1 PRSS3 NM_001197097 Chr9 33798042 33798042 + G C c.458G>C Exon (4/6) 124 369 33.60 p.Cys153Ser Substitution Non-synonymous SK-HEP-1 PRSS3 NM_001197097 Chr9 33798052 33798052 + C T c.468C>T Exon (4/6) 43 348 12.36 p.Ser156Ser Substitution Synonymous SK-HEP-1 PRSS3 NM_001197097 Chr9 33798073 33798073 + C T c.489C>T Exon (4/6) 102 233 43.78 p.Ser163Ser Substitution Synonymous SK-HEP-1 PRSS3 NM_001197097 Chr9 33798075 33798075 + T C c.491T>C Exon (4/6) 98 224 43.75 p.Phe164Ser Substitution Non-synonymous SK-HEP-1 PRSS3 NM_001197097 Chr9 33798079 33798079 + T C c.495T>C Exon (4/6) 19 215 8.84 p.Gly165Gly Substitution Synonymous HuH-7 PTEN NM_001304717 Chr10 89624218 89624218 + C G c.511C>G Exon (2/10) 1,043 1,067 97.75 p.Leu171Val Substitution Non-synonymous Hep3B PTPRB NM_002837 Chr12 70980848 70980848 C T c.1596C>T Exon (7/32) 220 853 25.79 p.Met532Ile Substitution Non-synonymous Hep3B RB1 NM_000321 Chr13 48955383 48955383 + G A c.1499G>A Exon (17/27) 65 344 18.90 p.Arg500Lys Substitution Non-synonymous Hep3B RB1 NM_000321 Chr13 49027160 49027160 + C G c.1727C>G Exon (18/27) 331 407 81.33 p.Ser576* Substitution Stop-codon-gain HuH-7 RET NM_020630 Chr10 43606844 43606844 + G T c.1453G>T Exon (7/19) 381 1,262 30.19 p.Val485Leu Substitution Non-synonymous Hep2.2.15 RET NM_020630 Chr10 43608351 43608351 + G A c.1699G>A Exon (9/19) 410 741 55.33 p.Asp567Asn Substitution Non-synonymous HepG2 RET NM_020630 Chr10 43608351 43608351 + G A c.1699G>A Exon (9/19) 378 820 46.10 p.Asp567Asn Substitution Non-synonymous MHCC97L RFX3 NM_002919 Chr9 3277362 3277362 G A c.951G>A Exon (7/14) 24 405 5.93 p.Ser317Ser Substitution Synonymous MHCC97L RFX3 NM_002919 Chr9 3277407 3277407 A G c.906A>G Exon (7/14) 37 516 7.17 p.Gly302Gly Substitution Synonymous MHCC97L RNF6 NM_005977 Chr13 26789140 26789140 A G c.879A>G Exon (5/5) 25 425 5.88 p.Asn293Asn Substitution Synonymous MHCC97L RNF6 NM_005977 Chr13 26789181 26789181 C T c.838C>T Exon (5/5) 30 579 5.18 p.Val280Ile Substitution Non-synonymous HuH-7 ROCK1 NM_005406 Chr18 18547762 18547766 AATTT A c.3143AATTT>A Exon (26/33) 170 1,855 9.16 Deletion Frameshift HuH-7 ROCK1 NM_005406 Chr18 18547767 18547767 C G c.3138C>G Exon (26/33) 175 1,921 9.11 p.Glu1046Asp Substitution Non-synonymous HuH-7 ROCK1 NM_005406 Chr18 18534948 18534948 G C c.3649G>C Exon (31/33) 360 2,644 13.62 p.Gln1217Glu Substitution Non-synonymous MHCC97L ROCK1 NM_005406 Chr18 18534948 18534948 G C c.3649G>C Exon (31/33) 203 1,636 12.41 p.Gln1217Glu Substitution Non-synonymous Hep3B ROCK1 NM_005406 Chr18 18547893 18547893 G T c.3012G>T Exon (26/33) 19 328 5.79 p.Asn1004Lys Substitution Non-synonymous Hep3B ROCK1 NM_005406 Chr18 18534948 18534948 G C c.3649G>C Exon (31/33) 124 731 16.96 p.Gln1217Glu Substitution Non-synonymous MHCC97H ROCK1 NM_005406 Chr18 18534948 18534948 G C c.3649G>C Exon (31/33) 96 877 10.95 p.Gln1217Glu Substitution Non-synonymous HuH-7 ROS1 NM_002944 Chr6 117683822 117683822 A C c.3325A>C Exon (21/43) 365 2,228 16.38 p.Ser1109Ala Substitution Non-synonymous MHCC97L ROS1 NM_002944 Chr6 117715380 117715380 G T c.1109G>T Exon (10/43) 511 1,083 47.18 p.Ser370Tyr Substitution Non-synonymous MHCC97L ROS1 NM_002944 Chr6 117662682 117662682 A G c.4783A>G Exon (29/43) 296 551 53.72 p.Leu1595Leu Substitution Synonymous Hep3B ROS1 NM_002944 Chr6 117665231 117665231 T C c.4516T>C Exon (27/43) 570 931 61.22 p.Arg1506Gly Substitution Non-synonymous MHCC97H ROS1 NM_002944 Chr6 117715380 117715380 G T c.1109G>T Exon (10/43) 329 647 50.85 p.Ser370Tyr Substitution Non-synonymous MHCC97H ROS1 NM_002944 Chr6 117662682 117662682 A G c.4783A>G Exon (29/43) 155 318 48.74 p.Leu1595Leu Substitution Synonymous MHCC97L RYR2 NM_001035 Chr1 237774133 237774133 + C T c.4755C>T Exon (36/105) 558 1,672 33.37 p.Arg1585Arg Substitution Synonymous Hep3B RYR2 NM_001035 Chr1 237608748 237608748 + G A c.1218G>A Exon (14/105) 1,053 1,428 73.74 p.Ser406Ser Substitution Synonymous Hep3B RYR2 NM_001035 Chr1 237949311 237949311 + A G c.13303A>G Exon (91/105) 381 1,461 26.08 p.Thr4435Ala Substitution Non-synonymous Hep3B RYR2 NM_001035 Chr1 237872347 237872347 + G A c.10091G>A Exon (69/105) 79 1,414 5.59 p.Arg3364Lys Substitution Non-synonymous MHCC97H RYR2 NM_001035 Chr1 237774133 237774133 + C T c.4755C>T Exon (36/105) 330 1,012 32.61 p.Arg1585Arg Substitution Synonymous Hep2.2.15 RYR2 NM_001035 Chr1 237660048 237660048 + G C c.2199G>C Exon (20/105) 474 995 47.64 p.Trp733Cys Substitution Non-synonymous HepG2 RYR2 NM_001035 Chr1 237798195 237798195 + C T c.6695C>T Exon (44/105) 67 527 12.71 p.Pro2232Leu Substitution Non-synonymous HepG2 RYR2 NM_001035 Chr1 237660048 237660048 + G C c.2199G>C Exon (20/105) 398 790 50.38 p.Trp733Cys Substitution Non-synonymous SK-HEP-1 RYR2 NM_001035 Chr1 237875068 237875068 + C T c.10254C>T Exon (71/105) 278 973 28.57 p.Asn3418Asn Substitution Synonymous Hep3B SETD1B NM_015048 Chr12 122260805 122260805 + C T c.4191C>T Exon (12/17) 460 462 99.57 p.Ser1397Ser Substitution Synonymous Hep3B SHISA2 NM_001007538 Chr13 26620978 26620978 G T c.561G>T Exon (2/2) 304 576 52.78 p.Ser187Ser Substitution Synonymous Hep3B SLC9A9 NM_173653 Chr3 143297490 143297490 A G c.831A>G Exon (7/16) 220 685 32.12 p.Asn277Asn Substitution Synonymous MHCC97L SMPD1 NM_000543 Chr11 6411935 6411941 + TGCTGGC T c.107TGCTGGC>T Exon (1/6) 65 192 33.85 Deletion Inframe Hep3B SMPD1 NM_000543 Chr11 6411935 6411941 + TGCTGGC T c.107TGCTGGC>T Exon (1/6) 180 196 91.84 Deletion Inframe Hep3B SMPD1 NM_000543 Chr11 6411941 6411941 + C T c.113C>T Exon (1/6) 28 228 12.28 p.Ala38Val Substitution Non-synonymous MHCC97H SMPD1 NM_000543 Chr11 6411935 6411941 + TGCTGGC T c.107TGCTGGC>T Exon (1/6) 45 128 35.16 Deletion Inframe HuH-7 SOX9 NM_000346 Chr17 70119713 70119713 + A C c.715A>C Exon (3/3) 58 1,047 5.54 p.Thr239Pro Substitution Non-synonymous HuH-7 SOX9 NM_000346 Chr17 70119722 70119722 + A C c.724A>C Exon (3/3) 69 1,051 6.57 p.Lys242Gln Substitution Non-synonymous MHCC97H SOX9 NM_000346 Chr17 70119713 70119713 + A C c.715A>C Exon (3/3) 41 802 5.11 p.Thr239Pro Substitution Non-synonymous Hep2.2.15 SOX9 NM_000346 Chr17 70119713 70119713 + A C c.715A>C Exon (3/3) 47 883 5.32 p.Thr239Pro Substitution Non-synonymous HepG2 SOX9 NM_000346 Chr17 70119713 70119713 + A C c.715A>C Exon (3/3) 56 988 5.67 p.Thr239Pro Substitution Non-synonymous HepG2 SOX9 NM_000346 Chr17 70119722 70119722 + A C c.724A>C Exon (3/3) 61 1,022 5.97 p.Lys242Gln Substitution Non-synonymous HepG2 SPAG17 NM_206996 Chr1 118535223 118535223 A G c.5227A>G Exon (36/49) 55 769 7.15 p.Cys1743Arg Substitution Non-synonymous Hep3B STK11 NM_000455 Chr19 1221293 1221293 + C T c.816C>T Exon (6/10) 377 1,573 23.97 p.Tyr272Tyr Substitution Synonymous HuH-7 SYNE1 NM_182961 Chr6 152711587 152711587 C G c.8005C>G Exon (53/146) 114 2,121 5.37 p.Asp2669His Substitution Non-synonymous HuH-7 SYNE1 NM_182961 Chr6 152757143 152757143 G T c.4243G>T Exon (33/146) 304 2,085 14.58 p.Leu1415Met Substitution Non-synonymous Hep3B SYNE1 NM_182961 Chr6 152560746 152560746 A G c.19989A>G Exon (108/146) 319 1,011 31.55 p.His6663His Substitution Synonymous Hep2.2.15 SYNE1 NM_182961 Chr6 152646219 152646219 C T c.15657C>T Exon (81/146) 188 361 52.08 p.Lys5219Lys Substitution Synonymous HepG2 SYNE1 NM_182961 Chr6 152748907 152748907 C A c.5021C>A Exon (38/146) 405 1,210 33.47 p.Gly1674Val Substitution Non-synonymous HepG2 SYNE1 NM_182961 Chr6 152646219 152646219 C T c.15657C>T Exon (81/146) 117 363 32.23 p.Lys5219Lys Substitution Synonymous HuH-7 SYNE2 NM_015180 Chr14 64630194 64630194 + A T c.16374A>T Exon (89/115) 538 550 97.82 p.Gln5458His Substitution Non-synonymous MHCC97L TAF9 NM_003187 Chr5 68661325 68661325 A G c.240A>G Exon (3/3) 34 668 5.09 p.Asp80Asp Substitution Synonymous MHCC97L TAF9 NM_003187 Chr5 68661331 68661331 G A c.234G>A Exon (3/3) 42 713 5.89 p.Arg78Arg Substitution Synonymous MHCC97L TAF9 NM_003187 Chr5 68661348 68661348 A G c.217A>G Exon (3/3) 39 780 5.00 p.Leu73Leu Substitution Synonymous MHCC97L TAF9 NM_003187 Chr5 68661352 68661352 C T c.213C>T Exon (3/3) 42 788 5.33 p.Val71Val Substitution Synonymous MHCC97L TAF9 NM_003187 Chr5 68661355 68661355 A G c.210A>G Exon (3/3) 44 802 5.49 p.Asp70Asp Substitution Synonymous MHCC97L TAF9 NM_003187 Chr5 68661391 68661391 T G c.174T>G Exon (3/3) 57 858 6.64 p.Ser58Ser Substitution Synonymous MHCC97L TAF9 NM_003187 Chr5 68661403 68661403 T A c.162T>A Exon (3/3) 72 898 8.02 p.Ala54Ala Substitution Synonymous MHCC97L TAF9 NM_003187 Chr5 68661447 68661447 A G c.118A>G Exon (3/3) 74 898 8.24 p.Leu40Leu Substitution Synonymous MHCC97L TAF9 NM_003187 Chr5 68661544 68661544 A C c.21A>C Exon (3/3) 38 728 5.22 p.Ala7Ala Substitution Synonymous Hep3B TBC1D8B NM_198881 Chrx 106083304 106083304 + A G c.1380A>G Exon (9/12) 319 320 99.69 p.Ser460Ser Substitution Synonymous MHCC97L TERT NM_001193376 Chr5 1293951 1293951 C G c.1050C>G Exon (2/15) 110 438 25.11 p.Leu350Leu Substitution Synonymous MHCC97L TERT NM_001193376 Chr5 1294020 1294020 C G c.981C>G Exon (2/15) 99 429 23.08 p.Glu327Asp Substitution Non-synonymous MHCC97H TERT NM_001193376 Chr5 1293951 1293951 C G c.1050C>G Exon (2/15) 58 182 31.87 p.Leu350Leu Substitution Synonymous MHCC97H TERT NM_001193376 Chr5 1294020 1294020 C G c.981C>G Exon (2/15) 62 176 35.23 p.Glu327Asp Substitution Non-synonymous HuH-7 TP53 NM_001126118 Chr17 7578190 7578190 T C c.542T>C Exon (5/10) 2,018 2,051 98.39 p.Tyr181Cys Substitution Non-synonymous MHCC97L TP53 NM_001126118 Chr17 7577534 7577534 C A c.630C>A Exon (6/10) 509 1,461 34.84 p.Arg210Ser Substitution Non-synonymous MHCC97L TP53 NM_001126118 Chr17 7579536 7579536 C A c.34C>A Exon (3/10) 1,041 1,697 61.34 p.Glu12* Substitution Stop-codon-gain MHCC97H TP53 NM_001126118 Chr17 7577534 7577534 C A c.630C>A Exon (6/10) 311 947 32.84 p.Arg210Ser Substitution Non-synonymous MHCC97H TP53 NM_001126118 Chr17 7579536 7579536 C A c.34C>A Exon (3/10) 700 1,070 65.42 p.Glu12* Substitution Stop-codon-gain HepG2 TP53 NM_001126118 Chr17 7577538 7577538 C T c.626C>T Exon (6/10) 333 707 47.10 p.Arg209Gln Substitution Non-synonymous HuH-7 ZFHX4 NM_024721 Chr8 77762591 77762591 + A G c.3957A>G Exon (9/11) 1,076 1,116 96.42 p.Lys1319Lys Substitution Synonymous HuH-7 ZFHX4 NM_024721 Chr8 77763286 77763286 + C A c.4129C>A Exon (10/11) 484 2,018 23.98 p.Gln1377Lys Substitution Non-synonymous HuH-7 ZFHX4 NM_024721 Chr8 77765289 77765289 + A C c.6132A>C Exon (10/11) 37 707 5.23 p.Pro2044Pro Substitution Synonymous HuH-7 ZFHX4 NM_024721 Chr8 77617704 77617704 + C T c.1381C>T Exon (2/11) 492 1,949 25.24 p.Pro461Ser Substitution Non-synonymous MHCC97L ZFHX4 NM_024721 Chr8 77765298 77765301 + ACCT A c.6141ACCT>A Exon (10/11) 192 1,032 18.60 Deletion Inframe MHCC97L ZFHX4 NM_024721 Chr8 77765950 77765950 + C T c.6793C>T Exon (10/11) 1,674 2,981 56.16 p.Leu2265Leu Substitution Synonymous MHCC97L ZFHX4 NM_024721 Chr8 77767929 77767929 + T C c.8772T>C Exon (10/11) 1,665 2,718 61.26 p.Asn2924Asn Substitution Synonymous MHCC97L ZFHX4 NM_024721 Chr8 77768512 77768512 + C A c.9355C>A Exon (10/11) 1,531 2,638 58.04 p.Pro3119Thr Substitution Non-synonymous Hep3B ZFHX4 NM_024721 Chr8 77765289 77765289 + A C c.6132A>C Exon (10/11) 20 377 5.31 p.Pro2044Pro Substitution Synonymous Hep3B ZFHX4 NM_024721 Chr8 77765298 77765301 + ACCT A c.6141ACCT>A Exon (10/11) 123 364 33.79 Deletion Inframe Hep3B ZFHX4 NM_024721 Chr8 77765301 77765301 + T A c.6144T>A Exon (10/11) 28 427 6.56 p.Pro2048Pro Substitution Synonymous MHCC97H ZFHX4 NM_024721 Chr8 77765298 77765301 + ACCT A c.6141ACCT>A Exon (10/11) 90 655 13.74 Deletion Inframe MHCC97H ZFHX4 NM_024721 Chr8 77765950 77765950 + C T c.6793C>T Exon (10/11) 1,290 1,920 67.19 p.Leu2265Leu Substitution Synonymous MHCC97H ZFHX4 NM_024721 Chr8 77767929 77767929 + T C c.8772T>C Exon (10/11) 1,258 1,871 67.24 p.Asn2924Asn Substitution Synonymous MHCC97H ZFHX4 NM_024721 Chr8 77768512 77768512 + C A c.9355C>A Exon (10/11) 1,142 1,707 66.90 p.Pro3119Thr Substitution Non-synonymous Hep2.2.15 ZFHX4 NM_024721 Chr8 77765278 77765278 + A C c.6121A>C Exon (10/11) 17 331 5.14 p.Thr2041Pro Substitution Non-synonymous HepG2 ZFHX4 NM_024721 Chr8 77765278 77765278 + A C c.6121A>C Exon (10/11) 19 328 5.79 p.Thr2041Pro Substitution Non-synonymous HepG2 ZFHX4 NM_024721 Chr8 77765283 77765283 + T C c.6126T>C Exon (10/11) 19 311 6.11 p.Pro2042Pro Substitution Synonymous HepG2 ZFHX4 NM_024721 Chr8 77765289 77765289 + A C c.6132A>C Exon (10/11) 19 278 6.83 p.Pro2044Pro Substitution Synonymous SK-HEP-1 ZFHX4 NM_024721 Chr8 77765289 77765289 + A C c.6132A>C Exon (10/11) 18 360 5.00 p.Pro2044Pro Substitution Synonymous SK-HEP-1 ZFHX4 NM_024721 Chr8 77765298 77765301 + ACCT A c.6141ACCT>A Exon (10/11) 53 328 16.16 Deletion Inframe SK-HEP-1 ZFHX4 NM_024721 Chr8 77765301 77765301 + T A c.6144T>A Exon (10/11) 20 376 5.32 p.Pro2048Pro Substitution Synonymous SK-HEP-1 ZSCAN20 NM_145238 Chr1 33955193 33955193 + G A c.757G>A Exon (5/8) 335 492 68.09 p.Val253Met Substitution Non-synonymous

Somatic mutations identified by target sequencing of HCC ...cdn.amegroups.cn/journals/pbpc/public/addition/tcr/... · HuH-7 AMER1 NM_152424 Chrx 63412481 63412481 – G A c.686G>A

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Page 1: Somatic mutations identified by target sequencing of HCC ...cdn.amegroups.cn/journals/pbpc/public/addition/tcr/... · HuH-7 AMER1 NM_152424 Chrx 63412481 63412481 – G A c.686G>A

Somatic mutations identified by target sequencing of HCC cell lines

Cell line Gene symbol Transcript Chromosome Start (hg19) End (hg19) Strand Ref Alt Mutation Exon Mutated reads Total coverage Frequency Amino acid change Mutation type Consequences

HuH-7 ADAM29 NM_014269 Chr4 175898967 175898967 + C T c.2291C>T Exon (5/5) 88 1,058 8.32 p.Thr764Ile Substitution Non-synonymous

HuH-7 ADAM29 NM_014269 Chr4 175898968 175898968 + A G c.2292A>G Exon (5/5) 93 1,025 9.07 p.Thr764Thr Substitution Synonymous

HuH-7 ADAM29 NM_014269 Chr4 175898971 175898971 + C T c.2295C>T Exon (5/5) 100 1,051 9.51 p.Pro765Pro Substitution Synonymous

HuH-7 ADAM29 NM_014269 Chr4 175898983 175898983 + A T c.2307A>T Exon (5/5) 180 1,167 15.42 p.Gln769His Substitution Non-synonymous

HuH-7 ADAM29 NM_014269 Chr4 175898988 175898988 + G A c.2312G>A Exon (5/5) 197 1,145 17.21 p.Arg771Gln Substitution Non-synonymous

HuH-7 ADAM29 NM_014269 Chr4 175898990 175898990 + G T c.2314G>T Exon (5/5) 218 1,153 18.91 p.Val772Leu Substitution Non-synonymous

HuH-7 ADAM29 NM_014269 Chr4 175898994 175898994 + T C c.2318T>C Exon (5/5) 253 1,191 21.24 p.Met773Thr Substitution Non-synonymous

HuH-7 ADAM29 NM_014269 Chr4 175899001 175899001 + T C c.2325T>C Exon (5/5) 409 1,271 32.18 p.Ser775Ser Substitution Synonymous

HuH-7 ADAM29 NM_014269 Chr4 175899075 175899075 + C T c.2399C>T Exon (5/5) 312 1,340 23.28 p.Thr800Ile Substitution Non-synonymous

HuH-7 ADAM29 NM_014269 Chr4 175899076 175899076 + A G c.2400A>G Exon (5/5) 341 1,318 25.87 p.Thr800Thr Substitution Synonymous

HuH-7 ADAM29 NM_014269 Chr4 175899079 175899079 + C T c.2403C>T Exon (5/5) 313 1,346 23.25 p.Pro801Pro Substitution Synonymous

HuH-7 ADAM29 NM_014269 Chr4 175899088 175899088 + G T c.2412G>T Exon (5/5) 286 1,322 21.63 p.Arg804Ser Substitution Non-synonymous

HuH-7 ADAM29 NM_014269 Chr4 175899091 175899091 + A T c.2415A>T Exon (5/5) 288 1,352 21.30 p.Gln805His Substitution Non-synonymous

HuH-7 ADAM29 NM_014269 Chr4 175899102 175899102 + T C c.2426T>C Exon (5/5) 286 1,312 21.80 p.Met809Thr Substitution Non-synonymous

HuH-7 ADAM29 NM_014269 Chr4 175899130 175899130 + G A c.2454G>A Exon (5/5) 103 1,181 8.72 p.Thr818Thr Substitution Synonymous

HuH-7 ALK NM_004304 Chr2 29917737 29917737 – G C c.931G>C Exon (3/29) 110 1,086 10.13 p.Arg311Gly Substitution Non-synonymous

HuH-7 ALK NM_004304 Chr2 29917837 29917837 – G A c.831G>A Exon (3/29) 373 1,099 33.94 p.Ser277Ser Substitution Synonymous

HuH-7 ALK NM_004304 Chr2 29443617 29443617 – C G c.3600C>G Exon (23/29) 727 1,120 64.91 p.Ala1200Ala Substitution Synonymous

MHCC97L ALK NM_004304 Chr2 29940553 29940553 – G T c.678G>T Exon (2/29) 476 1,374 34.64 p.Ser226Ser Substitution Synonymous

HuH-7 AMER1 NM_152424 Chrx 63412115 63412117 – GCT G c.1052GCT>G Exon (2/2) 744 852 87.32 – Deletion Frameshift

HuH-7 AMER1 NM_152424 Chrx 63412481 63412481 – G A c.686G>A Exon (2/2) 433 843 51.36 p.Ala229Val Substitution Non-synonymous

Hep3B AMPH NM_001635 Chr7 38475878 38475878 – C G c.1128C>G Exon (12/21) 691 1,152 59.98 p.Met376Ile Substitution Non-synonymous

Hep2.2.15 APC NM_001127511 Chr5 112154771 112154771 – C A c.988C>A Exon (8/14) 373 1,311 28.45 p.Arg330Arg Substitution Synonymous

HuH-7 APOB NM_000384 Chr2 21230263 21230263 – C T c.9477C>T Exon (26/29) 821 1,213 67.68 p.Lys3159Lys Substitution Synonymous

Hep3B APOB NM_000384 Chr2 21235375 21235375 – G A c.4365G>A Exon (26/29) 749 750 99.87 p.Phe1455Phe Substitution Synonymous

Hep3B APOB NM_000384 Chr2 21249682 21249682 – G T c.2222G>T Exon (15/29) 429 433 99.08 p.Thr741Asn Substitution Non-synonymous

Hep3B APOB NM_000384 Chr2 21260934 21260934 – G A c.433G>A Exon (5/29) 536 537 99.81 p.Pro145Ser Substitution Non-synonymous

MHCC97H APOB NM_000384 Chr2 21232369 21232369 – C G c.7371C>G Exon (26/29) 23 443 5.19 p.Leu2457Leu Substitution Synonymous

Hep2.2.15 APOB NM_000384 Chr2 21224925 21224925 – C T c.13369C>T Exon (29/29) 620 1,281 48.40 p.Asp4457Asn Substitution Non-synonymous

HepG2 APOB NM_000384 Chr2 21224925 21224925 – C T c.13369C>T Exon (29/29) 662 1,876 35.29 p.Asp4457Asn Substitution Non-synonymous

HuH-7 AQP7 NM_001170 Chr9 33385667 33385667 – A G c.723A>G Exon (7/8) 143 651 21.97 p.Gly241Gly Substitution Synonymous

HuH-7 AQP7 NM_001170 Chr9 33385690 33385690 – G T c.700G>T Exon (7/8) 129 529 24.39 p.Arg234Ser Substitution Non-synonymous

HuH-7 AQP7 NM_001170 Chr9 33385698 33385698 – A G c.692A>G Exon (7/8) 111 481 23.08 p.Leu231Pro Substitution Non-synonymous

HuH-7 AQP7 NM_001170 Chr9 33385709 33385709 – C T c.681C>T Exon (7/8) 66 387 17.05 p.Pro227Pro Substitution Synonymous

HuH-7 AQP7 NM_001170 Chr9 33385712 33385712 – G A c.678G>A Exon (7/8) 64 354 18.08 p.Asn226Asn Substitution Synonymous

HuH-7 AQP7 NM_001170 Chr9 33385733 33385733 – C T c.657C>T Exon (7/8) 30 248 12.10 p.Met219Ile Substitution Non-synonymous

HuH-7 AQP7 NM_001170 Chr9 33385740 33385740 – A T c.650A>T Exon (7/8) 18 202 8.91 p.Leu217His Substitution Non-synonymous

HuH-7 AQP7 NM_001170 Chr9 33385750 33385750 – C T c.640C>T Exon (7/8) 16 162 9.88 p.Gly214Arg Substitution Non-synonymous

HuH-7 AQP7 NM_001170 Chr9 33385771 33385771 – C T c.619C>T Exon (7/8) 8 106 7.55 p.Gly207Ser Substitution Non-synonymous

MHCC97L AQP7 NM_001170 Chr9 33385667 33385667 – A G c.723A>G Exon (7/8) 144 699 20.60 p.Gly241Gly Substitution Synonymous

MHCC97L AQP7 NM_001170 Chr9 33385690 33385690 – G T c.700G>T Exon (7/8) 135 576 23.44 p.Arg234Ser Substitution Non-synonymous

MHCC97L AQP7 NM_001170 Chr9 33385698 33385698 – A G c.692A>G Exon (7/8) 123 530 23.21 p.Leu231Pro Substitution Non-synonymous

MHCC97L AQP7 NM_001170 Chr9 33385709 33385709 – C T c.681C>T Exon (7/8) 86 433 19.86 p.Pro227Pro Substitution Synonymous

MHCC97L AQP7 NM_001170 Chr9 33385712 33385712 – G A c.678G>A Exon (7/8) 76 405 18.77 p.Asn226Asn Substitution Synonymous

MHCC97L AQP7 NM_001170 Chr9 33385733 33385733 – C T c.657C>T Exon (7/8) 35 260 13.46 p.Met219Ile Substitution Non-synonymous

MHCC97L AQP7 NM_001170 Chr9 33385740 33385740 – A T c.650A>T Exon (7/8) 28 221 12.67 p.Leu217His Substitution Non-synonymous

MHCC97L AQP7 NM_001170 Chr9 33385750 33385750 – C T c.640C>T Exon (7/8) 18 174 10.34 p.Gly214Arg Substitution Non-synonymous

MHCC97L AQP7 NM_001170 Chr9 33385771 33385771 – C T c.619C>T Exon (7/8) 8 101 7.92 p.Gly207Ser Substitution Non-synonymous

Hep3B AQP7 NM_001170 Chr9 33385667 33385667 – A G c.723A>G Exon (7/8) 76 303 25.08 p.Gly241Gly Substitution Synonymous

Hep3B AQP7 NM_001170 Chr9 33385690 33385690 – G T c.700G>T Exon (7/8) 75 266 28.20 p.Arg234Ser Substitution Non-synonymous

Hep3B AQP7 NM_001170 Chr9 33385698 33385698 – A G c.692A>G Exon (7/8) 66 244 27.05 p.Leu231Pro Substitution Non-synonymous

Hep3B AQP7 NM_001170 Chr9 33385709 33385709 – C T c.681C>T Exon (7/8) 51 201 25.37 p.Pro227Pro Substitution Synonymous

Hep3B AQP7 NM_001170 Chr9 33385712 33385712 – G A c.678G>A Exon (7/8) 49 182 26.92 p.Asn226Asn Substitution Synonymous

Hep3B AQP7 NM_001170 Chr9 33385733 33385733 – C T c.657C>T Exon (7/8) 22 118 18.64 p.Met219Ile Substitution Non-synonymous

MHCC97H AQP7 NM_001170 Chr9 33385667 33385667 – A G c.723A>G Exon (7/8) 111 445 24.94 p.Gly241Gly Substitution Synonymous

MHCC97H AQP7 NM_001170 Chr9 33385690 33385690 – G T c.700G>T Exon (7/8) 98 374 26.20 p.Arg234Ser Substitution Non-synonymous

MHCC97H AQP7 NM_001170 Chr9 33385698 33385698 – A G c.692A>G Exon (7/8) 94 346 27.17 p.Leu231Pro Substitution Non-synonymous

MHCC97H AQP7 NM_001170 Chr9 33385709 33385709 – C T c.681C>T Exon (7/8) 63 278 22.66 p.Pro227Pro Substitution Synonymous

MHCC97H AQP7 NM_001170 Chr9 33385712 33385712 – G A c.678G>A Exon (7/8) 50 246 20.33 p.Asn226Asn Substitution Synonymous

MHCC97H AQP7 NM_001170 Chr9 33385733 33385733 – C T c.657C>T Exon (7/8) 27 157 17.20 p.Met219Ile Substitution Non-synonymous

MHCC97H AQP7 NM_001170 Chr9 33385740 33385740 – A T c.650A>T Exon (7/8) 26 142 18.31 p.Leu217His Substitution Non-synonymous

MHCC97H AQP7 NM_001170 Chr9 33385750 33385750 – C T c.640C>T Exon (7/8) 17 109 15.60 p.Gly214Arg Substitution Non-synonymous

Hep2.2.15 AQP7 NM_001170 Chr9 33385667 33385667 – A G c.723A>G Exon (7/8) 101 301 33.55 p.Gly241Gly Substitution Synonymous

Hep2.2.15 AQP7 NM_001170 Chr9 33385690 33385690 – G T c.700G>T Exon (7/8) 97 250 38.80 p.Arg234Ser Substitution Non-synonymous

Hep2.2.15 AQP7 NM_001170 Chr9 33385698 33385698 – A G c.692A>G Exon (7/8) 89 230 38.70 p.Leu231Pro Substitution Non-synonymous

Hep2.2.15 AQP7 NM_001170 Chr9 33385709 33385709 – C T c.681C>T Exon (7/8) 74 189 39.15 p.Pro227Pro Substitution Synonymous

Hep2.2.15 AQP7 NM_001170 Chr9 33385712 33385712 – G A c.678G>A Exon (7/8) 69 169 40.83 p.Asn226Asn Substitution Synonymous

Hep2.2.15 AQP7 NM_001170 Chr9 33385733 33385733 – C T c.657C>T Exon (7/8) 43 109 39.45 p.Met219Ile Substitution Non-synonymous

HepG2 AQP7 NM_001170 Chr9 33385667 33385667 – A G c.723A>G Exon (7/8) 128 330 38.79 p.Gly241Gly Substitution Synonymous

HepG2 AQP7 NM_001170 Chr9 33385690 33385690 – G T c.700G>T Exon (7/8) 121 274 44.16 p.Arg234Ser Substitution Non-synonymous

HepG2 AQP7 NM_001170 Chr9 33385698 33385698 – A G c.692A>G Exon (7/8) 112 248 45.16 p.Leu231Pro Substitution Non-synonymous

HepG2 AQP7 NM_001170 Chr9 33385709 33385709 – C T c.681C>T Exon (7/8) 88 209 42.11 p.Pro227Pro Substitution Synonymous

HepG2 AQP7 NM_001170 Chr9 33385712 33385712 – G A c.678G>A Exon (7/8) 76 188 40.43 p.Asn226Asn Substitution Synonymous

HepG2 AQP7 NM_001170 Chr9 33385733 33385733 – C T c.657C>T Exon (7/8) 40 126 31.75 p.Met219Ile Substitution Non-synonymous

HepG2 AQP7 NM_001170 Chr9 33385740 33385740 – A T c.650A>T Exon (7/8) 29 104 27.88 p.Leu217His Substitution Non-synonymous

SK-HEP-1 AQP7 NM_001170 Chr9 33385667 33385667 – A G c.723A>G Exon (7/8) 75 209 35.89 p.Gly241Gly Substitution Synonymous

SK-HEP-1 AQP7 NM_001170 Chr9 33385690 33385690 – G T c.700G>T Exon (7/8) 73 169 43.20 p.Arg234Ser Substitution Non-synonymous

SK-HEP-1 AQP7 NM_001170 Chr9 33385698 33385698 – A G c.692A>G Exon (7/8) 63 148 42.57 p.Leu231Pro Substitution Non-synonymous

SK-HEP-1 AQP7 NM_001170 Chr9 33385709 33385709 – C T c.681C>T Exon (7/8) 56 129 43.41 p.Pro227Pro Substitution Synonymous

SK-HEP-1 AQP7 NM_001170 Chr9 33385712 33385712 – G A c.678G>A Exon (7/8) 51 122 41.80 p.Asn226Asn Substitution Synonymous

HuH-7 AR NM_000044 Chrx 66766347 66766347 + T G c.1359T>G Exon (1/8) 13 234 5.56 p.Gly453Gly Substitution Synonymous

HuH-7 AR NM_000044 Chrx 66766353 66766353 + T G c.1365T>G Exon (1/8) 10 189 5.29 p.Gly455Gly Substitution Synonymous

MHCC97L AR NM_000044 Chrx 66766356 66766368 + TGGCGGCGGCGGC T c.1368TGGCGGCGGCGGC>T Exon (1/8) 350 813 43.05 – Deletion Inframe

Hep3B AR NM_000044 Chrx 66766347 66766347 + T G c.1359T>G Exon (1/8) 10 143 6.99 p.Gly453Gly Substitution Synonymous

Hep3B AR NM_000044 Chrx 66766356 66766356 + T TGGC c.1368T>TGGC Exon (1/8) 43 138 31.16 – Insertion Inframe

MHCC97H AR NM_000044 Chrx 66766356 66766368 + TGGCGGCGGCGGC T c.1368TGGCGGCGGCGGC>T Exon (1/8) 125 356 35.11 – Deletion Inframe

Hep2.2.15 AR NM_000044 Chrx 66766347 66766347 + T G c.1359T>G Exon (1/8) 10 131 7.63 p.Gly453Gly Substitution Synonymous

MHCC97H ARID1A NM_006015 Chr1 27100181 27100184 + CGCA C c.3977CGCA>C Exon (16/20) 40 786 5.09 – Deletion Inframe

SK-HEP-1 ARID2 NM_152641 Chr12 46240658 46240658 + G A c.1518G>A Exon (12/21) 677 1,404 48.22 p.Ala506Ala Substitution Synonymous

HuH-7 ASPM NM_001206846 Chr1 197112281 197112281 – A T c.1101A>T Exon (3/27) 27 341 7.92 p.Ser367Arg Substitution Non-synonymous

MHCC97L ASPM NM_001206846 Chr1 197112445 197112445 – T C c.937T>C Exon (3/27) 593 1,743 34.02 p.Ile313Val Substitution Non-synonymous

MHCC97H ASPM NM_001206846 Chr1 197112445 197112445 – T C c.937T>C Exon (3/27) 385 1,083 35.55 p.Ile313Val Substitution Non-synonymous

Hep2.2.15 ATM NM_000051 Chr11 108115631 108115631 + C T c.779C>T Exon (7/63) 81 851 9.52 p.Pro260Leu Substitution Non-synonymous

Hep2.2.15 ATM NM_000051 Chr11 108115633 108115633 + A T c.781A>T Exon (7/63) 81 855 9.47 p.Thr261Ser Substitution Non-synonymous

Hep2.2.15 ATM NM_000051 Chr11 108214088 108214088 + A T c.8408A>T Exon (57/63) 105 907 11.58 p.Lys2803Met Substitution Non-synonymous

Hep2.2.15 ATM NM_000051 Chr11 108224537 108224537 + G A c.8716G>A Exon (60/63) 556 858 64.80 p.Val2906Ile Substitution Non-synonymous

HepG2 ATM NM_000051 Chr11 108224537 108224537 + G A c.8716G>A Exon (60/63) 433 980 44.18 p.Val2906Ile Substitution Non-synonymous

SK-HEP-1 ATM NM_000051 Chr11 108196896 108196896 + C T c.6919C>T Exon (47/63) 426 743 57.34 p.Leu2307Phe Substitution Non-synonymous

HepG2 ATP10B NM_025153 Chr5 160047887 160047887 – A T c.1883A>T Exon (15/26) 72 1,270 5.67 p.Leu628* Substitution Stop-codon-gain

MHCC97L AXIN1 NM_181050 Chr16 354403 354403 – A G c.1155A>G Exon (5/10) 337 1,004 33.57 p.Pro385Pro Substitution Synonymous

Hep3B AXIN1 NM_181050 Chr16 348042 348042 – C A c.1464C>A Exon (6/10) 425 426 99.77 p.Gly488Gly Substitution Synonymous

Hep3B AXIN1 NM_181050 Chr16 396590 396590 – G A c.436G>A Exon (2/10) 687 691 99.42 p.Arg146* Substitution Stop-codon-gain

MHCC97H AXIN1 NM_181050 Chr16 354403 354403 – A G c.1155A>G Exon (5/10) 204 627 32.54 p.Pro385Pro Substitution Synonymous

SK-HEP-1 BRAF NM_004333 Chr7 140453136 140453136 – A T c.1799A>T Exon (15/18) 632 1,209 52.27 p.Val600Glu Substitution Non-synonymous

HuH-7 BRD7 NM_001173984 Chr16 50368677 50368679 – CCT C c.832CCT>C Exon (7/17) 20 324 6.17 – Deletion Frameshift

MHCC97L BRD7 NM_001173984 Chr16 50368677 50368679 – CCT C c.832CCT>C Exon (7/17) 46 403 11.41 – Deletion Frameshift

MHCC97H BRD7 NM_001173984 Chr16 50368677 50368679 – CCT C c.832CCT>C Exon (7/17) 16 253 6.32 – Deletion Frameshift

Hep2.2.15 BRD7 NM_001173984 Chr16 50368677 50368679 – CCT C c.832CCT>C Exon (7/17) 16 300 5.33 – Deletion Frameshift

Hep2.2.15 BRD7 NM_001173984 Chr16 50383950 50383950 – G T c.575G>T Exon (5/17) 66 206 32.04 p.Ser192Tyr Substitution Non-synonymous

HepG2 BRD7 NM_001173984 Chr16 50368677 50368679 – CCT C c.832CCT>C Exon (7/17) 21 243 8.64 – Deletion Frameshift

SK-HEP-1 BRD7 NM_001173984 Chr16 50368677 50368679 – CCT C c.832CCT>C Exon (7/17) 14 177 7.91 – Deletion Frameshift

HuH-7 CCDC178 NM_001308126 Chr18 30913142 30913142 – A AT c.875A>AT Exon (9/23) 8 101 7.92 – Insertion Frameshift

HuH-7 CCDC178 NM_001308126 Chr18 30672822 30672822 – T C c.2291T>C Exon (20/23) 235 522 45.02 p.Gln764Arg Substitution Non-synonymous

MHCC97L CCDC178 NM_001308126 Chr18 30913142 30913142 – A AT c.875A>AT Exon (9/23) 7 137 5.11 – Insertion Frameshift

HepG2 CD209 NM_001144896 Chr19 7810656 7810656 – T G c.424T>G Exon (3/6) 24 417 5.76 p.Met142Leu Substitution Non-synonymous

MHCC97L CDK8 NM_001260 Chr13 26970453 26970453 + T C c.822T>C Exon (8/13) 31 538 5.76 p.Pro274Pro Substitution Synonymous

Hep3B CDKN2A NM_001195132 Chr9 21970993 21970993 – C A c.365C>A Exon (2/4) 172 503 34.19 p.Gly122Val Substitution Non-synonymous

MHCC97L CREBBP NM_004380 Chr16 3781313 3781313 – G A c.5052G>A Exon (30/31) 203 775 26.19 p.Ser1684Ser Substitution Synonymous

MHCC97H CREBBP NM_004380 Chr16 3781313 3781313 – G A c.5052G>A Exon (30/31) 151 477 31.66 p.Ser1684Ser Substitution Synonymous

Hep3B CSMD3 NM_052900 Chr8 113668453 113668453 – A G c.2622A>G Exon (17/69) 403 1,220 33.03 p.Ser874Ser Substitution Synonymous

Hep3B CSMD3 NM_052900 Chr8 113275878 113275878 – C T c.9345C>T Exon (59/69) 687 1,058 64.93 p.Pro3115Pro Substitution Synonymous

Hep3B CSMD3 NM_052900 Chr8 113662508 113662508 – A G c.2763A>G Exon (18/69) 439 1,235 35.55 p.Asp921Asp Substitution Synonymous

Hep3B CSMD3 NM_052900 Chr8 113504760 113504760 – C T c.4924C>T Exon (30/69) 413 1,196 34.53 p.Asp1642Asn Substitution Non-synonymous

Hep2.2.15 CSMD3 NM_052900 Chr8 113504903 113504903 – C G c.4781C>G Exon (30/69) 252 732 34.43 p.Arg1594Pro Substitution Non-synonymous

HuH-7 CYB5RL NM_001031672 Chr1 54644920 54644920 – C A c.646C>A Exon (7/8) 182 396 45.96 p.Val216Phe Substitution Non-synonymous

HuH-7 DIDO1 NM_001193369 Chr20 61525063 61525063 – G C c.3056G>C Exon (12/16) 235 569 41.30 p.Ser1019Cys Substitution Non-synonymous

MHCC97L DIDO1 NM_001193369 Chr20 61513087 61513087 – G A c.4221G>A Exon (16/16) 1,063 1,600 66.44 p.Arg1407Arg Substitution Synonymous

MHCC97H DIDO1 NM_001193369 Chr20 61513087 61513087 – G A c.4221G>A Exon (16/16) 612 916 66.81 p.Arg1407Arg Substitution Synonymous

SK-HEP-1 DMD NM_004006 Chrx 32834733 32834733 – T A c.382T>A Exon (6/79) 44 703 6.26 p.Met128Leu Substitution Non-synonymous

HuH-7 DST NM_183380 Chr6 56362247 56362247 – C T c.13262C>T Exon (73/94) 1,040 1,063 97.84 p.Arg4421His Substitution Non-synonymous

Hep2.2.15 DST NM_183380 Chr6 56496706 56496706 – C T c.3305C>T Exon (25/94) 54 876 6.16 p.Ser1102Asn Substitution Non-synonymous

SK-HEP-1 DST NM_183380 Chr6 56417380 56417380 – C A c.9319C>A Exon (52/94) 6 109 5.50 p.Glu3107* Substitution Stop-codon-gain

Hep3B EGFR NM_201284 Chr7 55214405 55214405 + G A c.531G>A Exon (4/16) 509 1,265 40.24 p.Ser177Ser Substitution Synonymous

HuH-7 ELMO1 NM_001206480 Chr7 37264513 37264513 – G T c.672G>T Exon (9/22) 52 827 6.29 p.Thr224Thr Substitution Synonymous

MHCC97L EP300 NM_001429 Chr22 41573908 41573908 + C T c.6193C>T Exon (31/31) 7 136 5.15 p.Leu2065Leu Substitution Synonymous

MHCC97L EP300 NM_001429 Chr22 41574477 41574477 + T A c.6762T>A Exon (31/31) 7 117 5.98 p.Gly2254Gly Substitution Synonymous

MHCC97L EP300 NM_001429 Chr22 41574507 41574507 + C T c.6792C>T Exon (31/31) 12 238 5.04 p.Leu2264Leu Substitution Synonymous

MHCC97L EP300 NM_001429 Chr22 41513660 41513660 + T C c.564T>C Exon (2/31) 45 743 6.06 p.Pro188Pro Substitution Synonymous

MHCC97L EP300 NM_001429 Chr22 41513681 41513681 + A C c.585A>C Exon (2/31) 39 619 6.30 p.Ser195Ser Substitution Synonymous

MHCC97L EP300 NM_001429 Chr22 41513723 41513723 + C T c.627C>T Exon (2/31) 20 373 5.36 p.Asn209Asn Substitution Synonymous

MHCC97L EP300 NM_001429 Chr22 41513724 41513724 + C G c.628C>G Exon (2/31) 20 367 5.45 p.Pro210Ala Substitution Non-synonymous

MHCC97L EP300 NM_001429 Chr22 41513735 41513735 + A C c.639A>C Exon (2/31) 20 308 6.49 p.Gly213Gly Substitution Synonymous

MHCC97L EP300 NM_001429 Chr22 41513737 41513737 + G A c.641G>A Exon (2/31) 20 287 6.97 p.Ser214Asn Substitution Non-synonymous

MHCC97L EP300 NM_001429 Chr22 41513746 41513746 + A G c.650A>G Exon (2/31) 17 243 7.00 p.Asn217Ser Substitution Non-synonymous

MHCC97L EP300 NM_001429 Chr22 41513747 41513747 + C T c.651C>T Exon (2/31) 16 244 6.56 p.Asn217Asn Substitution Synonymous

MHCC97L EP300 NM_001429 Chr22 41513751 41513751 + C T c.655C>T Exon (2/31) 17 231 7.36 p.Leu219Leu Substitution Synonymous

MHCC97L EP300 NM_001429 Chr22 41513762 41513762 + T A c.666T>A Exon (2/31) 10 181 5.52 p.Pro222Pro Substitution Synonymous

MHCC97L EP300 NM_001429 Chr22 41513765 41513765 + T A c.669T>A Exon (2/31) 10 166 6.02 p.Leu223Leu Substitution Synonymous

MHCC97L EP300 NM_001429 Chr22 41513780 41513780 + C T c.684C>T Exon (2/31) 7 126 5.56 p.Pro228Pro Substitution Synonymous

MHCC97L ERBB2 NM_004448 Chr17 37882036 37882036 + G C c.2802G>C Exon (23/27) 116 1,480 7.84 p.Leu934Leu Substitution Synonymous

HepG2 FAM135B NM_015912 Chr8 139164651 139164651 – C G c.2067C>G Exon (13/20) 333 797 41.78 p.Glu689Asp Substitution Non-synonymous

Hep3B FAT1 NM_005245 Chr4 187539169 187539169 – A C c.8571A>C Exon (10/27) 299 758 39.45 p.Ile2857Met Substitution Non-synonymous

HuH-7 FAT2 NM_001447 Chr5 150945518 150945518 – C T c.2975C>T Exon (1/23) 600 657 91.32 p.Arg992Gln Substitution Non-synonymous

MHCC97L FAT3 NM_001008781 Chr11 92507319 92507319 + C T c.4308C>T Exon (6/25) 547 1,650 33.15 p.Thr1436Thr Substitution Synonymous

MHCC97L FAT3 NM_001008781 Chr11 92532758 92532758 + A G c.6579A>G Exon (9/25) 1,122 1,741 64.45 p.Ala2193Ala Substitution Synonymous

Hep3B FAT3 NM_001008781 Chr11 92533101 92533101 + C A c.6922C>A Exon (9/25) 55 746 7.37 p.Gln2308Lys Substitution Non-synonymous

MHCC97H FAT3 NM_001008781 Chr11 92507319 92507319 + C T c.4308C>T Exon (6/25) 294 937 31.38 p.Thr1436Thr Substitution Synonymous

MHCC97H FAT3 NM_001008781 Chr11 92532758 92532758 + A G c.6579A>G Exon (9/25) 709 1,083 65.47 p.Ala2193Ala Substitution Synonymous

Hep2.2.15 FAT3 NM_001008781 Chr11 92087927 92087927 + T C c.2649T>C Exon (1/25) 330 953 34.63 p.Thr883Thr Substitution Synonymous

HepG2 FAT3 NM_001008781 Chr11 92086451 92086451 + T G c.1173T>G Exon (1/25) 22 321 6.85 p.Pro391Pro Substitution Synonymous

Hep2.2.15 FAT4 NM_024582 Chr4 126373784 126373784 + C T c.11613C>T Exon (9/17) 106 354 29.94 p.Cys3871Cys Substitution Synonymous

HepG2 FAT4 NM_024582 Chr4 126373784 126373784 + C T c.11613C>T Exon (9/17) 188 366 51.37 p.Cys3871Cys Substitution Synonymous

Hep3B FCRL1 NM_052938 Chr1 157771324 157771324 – A C c.930A>C Exon (6/11) 275 1,113 24.71 p.Ile310Met Substitution Non-synonymous

Hep3B FCRL1 NM_052938 Chr1 157771844 157771844 – C G c.747C>G Exon (5/11) 783 786 99.62 p.Leu249Leu Substitution Synonymous

Hep3B FCRL1 NM_052938 Chr1 157772404 157772404 – C T c.370C>T Exon (4/11) 731 993 73.62 p.Val124Met Substitution Non-synonymous

HuH-7 FGFR3 NM_001163213 Chr4 1808031 1808031 + A G c.2013A>G Exon (15/18) 9 180 5.00 p.Arg671Arg Substitution Synonymous

HuH-7 FRAS1 NM_001166133 Chr4 79166478 79166478 + A T c.308A>T Exon (4/42) 1,132 1,149 98.52 p.Glu103Val Substitution Non-synonymous

MHCC97L FRAS1 NM_001166133 Chr4 79166478 79166478 + A T c.308A>T Exon (4/42) 321 604 53.15 p.Glu103Val Substitution Non-synonymous

MHCC97H FRAS1 NM_001166133 Chr4 79166478 79166478 + A T c.308A>T Exon (4/42) 145 372 38.98 p.Glu103Val Substitution Non-synonymous

SK-HEP-1 GPR137B NM_003272 Chr1 236306072 236306072 + C T c.150C>T Exon (1/7) 46 130 35.38 p.Thr50Thr Substitution Synonymous

MHCC97L HNRNPA2B1 NM_031243 Chr7 26233292 26233292 – G A c.780G>A Exon (9/12) 72 1,284 5.61 p.Pro260Pro Substitution Synonymous

MHCC97L HNRNPA2B1 NM_031243 Chr7 26236199 26236199 – C T c.591C>T Exon (6/12) 14 265 5.28 p.Gln197Gln Substitution Synonymous

MHCC97L HNRNPA2B1 NM_031243 Chr7 26236202 26236202 – A G c.588A>G Exon (6/12) 14 251 5.58 p.Val196Val Substitution Synonymous

MHCC97L HNRNPA2B1 NM_031243 Chr7 26236229 26236229 – A T c.561A>T Exon (6/12) 13 201 6.47 p.Ala187Ala Substitution Synonymous

MHCC97L HNRNPA2B1 NM_031243 Chr7 26236238 26236238 – T A c.552T>A Exon (6/12) 11 205 5.37 p.Val184Val Substitution Synonymous

MHCC97L HNRNPR NM_001102397 Chr1 23637097 23637097 – C T c.1449C>T Exon (10/10) 47 714 6.58 p.Lys483Lys Substitution Synonymous

MHCC97L HNRNPR NM_001102397 Chr1 23637154 23637154 – A T c.1392A>T Exon (10/10) 77 961 8.01 p.Arg464Arg Substitution Synonymous

MHCC97L HNRNPR NM_001102397 Chr1 23637168 23637168 – A C c.1378A>C Exon (10/10) 77 973 7.91 p.Ser460Ala Substitution Non-synonymous

MHCC97L HNRNPR NM_001102397 Chr1 23637175 23637175 – G A c.1371G>A Exon (10/10) 73 966 7.56 p.Ser457Ser Substitution Synonymous

MHCC97L HNRNPR NM_001102397 Chr1 23637199 23637199 – A T c.1347A>T Exon (10/10) 74 868 8.53 p.Ala449Ala Substitution Synonymous

MHCC97L HNRNPR NM_001102397 Chr1 23637223 23637223 – A T c.1323A>T Exon (10/10) 55 707 7.78 p.Ser441Ser Substitution Synonymous

MHCC97L HNRNPR NM_001102397 Chr1 23637297 23637297 – T G c.1249T>G Exon (10/10) 23 362 6.35 p.Arg417Arg Substitution Synonymous

MHCC97L HNRNPR NM_001102397 Chr1 23637765 23637765 – T A c.915T>A Exon (9/10) 65 1,180 5.51 p.Ile305Ile Substitution Synonymous

MHCC97H HOXC4 NM_014620 Chr12 54448042 54448042 + A C c.336A>C Exon (3/4) 40 702 5.70 p.Pro112Pro Substitution Synonymous

Hep2.2.15 HOXC4 NM_014620 Chr12 54448042 54448042 + A C c.336A>C Exon (3/4) 47 852 5.52 p.Pro112Pro Substitution Synonymous

MHCC97L HSPA8 NM_006597 Chr11 122930548 122930548 – C T c.753C>T Exon (5/9) 21 279 7.53 p.Lys251Lys Substitution Synonymous

MHCC97L HSPA8 NM_006597 Chr11 122930554 122930554 – A G c.747A>G Exon (5/9) 24 317 7.57 p.His249His Substitution Synonymous

MHCC97L HSPA8 NM_006597 Chr11 122930560 122930560 – G T c.741G>T Exon (5/9) 28 344 8.14 p.Arg247Arg Substitution Synonymous

MHCC97L HSPA8 NM_006597 Chr11 122930566 122930566 – A G c.735A>G Exon (5/9) 27 396 6.82 p.Phe245Phe Substitution Synonymous

MHCC97L HSPA8 NM_006597 Chr11 122930578 122930578 – A G c.723A>G Exon (5/9) 39 455 8.57 p.Phe241Phe Substitution Synonymous

MHCC97L HSPA8 NM_006597 Chr11 122930584 122930584 – G A c.717G>A Exon (5/9) 43 492 8.74 p.Asn239Asn Substitution Synonymous

MHCC97L HSPA8 NM_006597 Chr11 122930617 122930617 – C T c.684C>T Exon (5/9) 40 630 6.35 p.Leu228Leu Substitution Synonymous

MHCC97L HSPA8 NM_006597 Chr11 122930638 122930638 – A T c.663A>T Exon (5/9) 51 651 7.83 p.Ser221Ser Substitution Synonymous

MHCC97L HSPA8 NM_006597 Chr11 122930641 122930641 – C T c.660C>T Exon (5/9) 51 651 7.83 p.Lys220Lys Substitution Synonymous

MHCC97L HSPA8 NM_006597 Chr11 122930653 122930653 – G A c.648G>A Exon (5/9) 52 628 8.28 p.Ile216Ile Substitution Synonymous

MHCC97L HSPA8 NM_006597 Chr11 122930703 122930703 – G A c.598G>A Exon (5/9) 33 438 7.53 p.Leu200Leu Substitution Synonymous

MHCC97L HSPA8 NM_006597 Chr11 122930710 122930710 – G A c.591G>A Exon (5/9) 27 406 6.65 p.Ile197Ile Substitution Synonymous

SK-HEP-1 IL6ST NM_001190981 Chr5 55265522 55265522 – T C c.226T>C Exon (4/16) 255 890 28.65 p.Lys76Glu Substitution Non-synonymous

HuH-7 KEAP1 NM_203500 Chr19 10602576 10602576 – G A c.1002G>A Exon (3/6) 281 1,161 24.20 p.Tyr334Tyr Substitution Synonymous

MHCC97L KEAP1 NM_203500 Chr19 10600520 10600521 – TG T c.1335TG>T Exon (4/6) 1,329 1,386 95.89 – Deletion Frameshift

MHCC97H KEAP1 NM_203500 Chr19 10600520 10600521 – TG T c.1335TG>T Exon (4/6) 805 841 95.72 – Deletion Frameshift

Hep3B KIF26B NM_018012 Chr1 245775265 245775265 + C T c.2085C>T Exon (9/15) 740 979 75.59 p.Ser695Ser Substitution Synonymous

Hep2.2.15 KIF26B NM_018012 Chr1 245772763 245772763 + C T c.1847C>T Exon (8/15) 79 152 51.97 p.Thr616Met Substitution Non-synonymous

HepG2 KIF26B NM_018012 Chr1 245772763 245772763 + C T c.1847C>T Exon (8/15) 83 147 56.46 p.Thr616Met Substitution Non-synonymous

Hep3B KMT2B NM_014727 Chr19 36211359 36211359 + A G c.1110A>G Exon (3/37) 34 102 33.33 p.Glu370Glu Substitution Synonymous

HuH-7 KMT2C NM_170606 Chr7 151882657 151882657 – T G c.5068T>G Exon (34/59) 265 1,988 13.33 p.Arg1690Arg Substitution Synonymous

HuH-7 KMT2C NM_170606 Chr7 151945071 151945071 – G GT c.2448G>GT Exon (14/59) 44 360 12.22 – Insertion Frameshift

HuH-7 KMT2C NM_170606 Chr7 151945140 151945140 – C T c.2379C>T Exon (14/59) 92 855 10.76 p.Ser793Ser Substitution Synonymous

HuH-7 KMT2C NM_170606 Chr7 151945167 151945167 – G T c.2352G>T Exon (14/59) 91 1,057 8.61 p.Ser784Ser Substitution Synonymous

HuH-7 KMT2C NM_170606 Chr7 151945204 151945204 – G A c.2315G>A Exon (14/59) 125 1,401 8.92 p.Ser772Leu Substitution Non-synonymous

HuH-7 KMT2C NM_170606 Chr7 151962257 151962257 – C T c.1050C>T Exon (8/59) 280 3,360 8.33 p.Pro350Pro Substitution Synonymous

HuH-7 KMT2C NM_170606 Chr7 151962265 151962265 – C T c.1042C>T Exon (8/59) 245 3,129 7.83 p.Asp348Asn Substitution Non-synonymous

HuH-7 KMT2C NM_170606 Chr7 151962290 151962290 – C G c.1017C>G Exon (8/59) 422 2,376 17.76 p.Lys339Asn Substitution Non-synonymous

HuH-7 KMT2C NM_170606 Chr7 151970797 151970797 – A T c.1005A>T Exon (7/59) 53 914 5.80 p.Pro335Pro Substitution Synonymous

HuH-7 KMT2C NM_170606 Chr7 151970856 151970856 – T A c.946T>A Exon (7/59) 580 1,267 45.78 p.Thr316Ser Substitution Non-synonymous

HuH-7 KMT2C NM_170606 Chr7 151970877 151970877 – G A c.925G>A Exon (7/59) 273 1,526 17.89 p.Pro309Ser Substitution Non-synonymous

HuH-7 KMT2C NM_170606 Chr7 151970931 151970931 – G A c.871G>A Exon (7/59) 721 2,014 35.80 p.Leu291Phe Substitution Non-synonymous

HuH-7 KMT2C NM_170606 Chr7 151970951 151970951 – C T c.851C>T Exon (7/59) 298 2,093 14.24 p.Arg284Gln Substitution Non-synonymous

MHCC97L KMT2C NM_170606 Chr7 151882657 151882657 – T G c.5068T>G Exon (34/59) 122 2,260 5.40 p.Arg1690Arg Substitution Synonymous

MHCC97L KMT2C NM_170606 Chr7 151945071 151945071 – G GT c.2448G>GT Exon (14/59) 41 195 21.03 – Insertion Frameshift

MHCC97L KMT2C NM_170606 Chr7 151945204 151945204 – G A c.2315G>A Exon (14/59) 61 1,166 5.23 p.Ser772Leu Substitution Non-synonymous

MHCC97L KMT2C NM_170606 Chr7 151962146 151962146 – C A c.1161C>A Exon (8/59) 617 2,152 28.67 p.Glu387Asp Substitution Non-synonymous

MHCC97L KMT2C NM_170606 Chr7 151962176 151962176 – T A c.1131T>A Exon (8/59) 488 2,725 17.91 p.Pro377Pro Substitution Synonymous

MHCC97L KMT2C NM_170606 Chr7 151962257 151962257 – C T c.1050C>T Exon (8/59) 167 2,371 7.04 p.Pro350Pro Substitution Synonymous

MHCC97L KMT2C NM_170606 Chr7 151962265 151962265 – C T c.1042C>T Exon (8/59) 146 2,224 6.56 p.Asp348Asn Substitution Non-synonymous

MHCC97L KMT2C NM_170606 Chr7 151970797 151970797 – A T c.1005A>T Exon (7/59) 58 644 9.01 p.Pro335Pro Substitution Synonymous

MHCC97L KMT2C NM_170606 Chr7 151970856 151970856 – T A c.946T>A Exon (7/59) 427 1,031 41.42 p.Thr316Ser Substitution Non-synonymous

MHCC97L KMT2C NM_170606 Chr7 151970877 151970877 – G A c.925G>A Exon (7/59) 76 1,240 6.13 p.Pro309Ser Substitution Non-synonymous

MHCC97L KMT2C NM_170606 Chr7 151970931 151970931 – G A c.871G>A Exon (7/59) 614 1,736 35.37 p.Leu291Phe Substitution Non-synonymous

Hep3B KMT2C NM_170606 Chr7 151945071 151945071 – G GT c.2448G>GT Exon (14/59) 33 356 9.27 – Insertion Frameshift

Hep3B KMT2C NM_170606 Chr7 151945101 151945101 – G C c.2418G>C Exon (14/59) 36 446 8.07 p.Ser806Ser Substitution Synonymous

Hep3B KMT2C NM_170606 Chr7 151945140 151945140 – C T c.2379C>T Exon (14/59) 105 655 16.03 p.Ser793Ser Substitution Synonymous

Hep3B KMT2C NM_170606 Chr7 151945167 151945167 – G T c.2352G>T Exon (14/59) 164 766 21.41 p.Ser784Ser Substitution Synonymous

Hep3B KMT2C NM_170606 Chr7 151945204 151945204 – G A c.2315G>A Exon (14/59) 213 943 22.59 p.Ser772Leu Substitution Non-synonymous

Hep3B KMT2C NM_170606 Chr7 151962134 151962134 – G T c.1173G>T Exon (8/59) 364 2,615 13.92 p.Cys391* Substitution Stop-codon-gain

Hep3B KMT2C NM_170606 Chr7 151962168 151962168 – C A c.1139C>A Exon (8/59) 491 3,504 14.01 p.Arg380Leu Substitution Non-synonymous

Hep3B KMT2C NM_170606 Chr7 151962176 151962176 – T A c.1131T>A Exon (8/59) 595 3,600 16.53 p.Pro377Pro Substitution Synonymous

Hep3B KMT2C NM_170606 Chr7 151962269 151962269 – C T c.1038C>T Exon (8/59) 294 2,690 10.93 p.Val346Val Substitution Synonymous

Hep3B KMT2C NM_170606 Chr7 151962290 151962290 – C G c.1017C>G Exon (8/59) 154 2,059 7.48 p.Lys339Asn Substitution Non-synonymous

Hep3B KMT2C NM_170606 Chr7 151962294 151962294 – G A c.1013G>A Exon (8/59) 161 1,843 8.74 p.Ser338Leu Substitution Non-synonymous

Hep3B KMT2C NM_170606 Chr7 151970835 151970835 – T C c.967T>C Exon (7/59) 61 1,183 5.16 p.Ile323Val Substitution Non-synonymous

Hep3B KMT2C NM_170606 Chr7 151970856 151970856 – T A c.946T>A Exon (7/59) 889 1,265 70.28 p.Thr316Ser Substitution Non-synonymous

Hep3B KMT2C NM_170606 Chr7 151970859 151970859 – C T c.943C>T Exon (7/59) 175 1,292 13.54 p.Gly315Ser Substitution Non-synonymous

Hep3B KMT2C NM_170606 Chr7 151970931 151970931 – G A c.871G>A Exon (7/59) 1,158 1,864 62.12 p.Leu291Phe Substitution Non-synonymous

Hep3B KMT2C NM_170606 Chr7 151970951 151970951 – C T c.851C>T Exon (7/59) 110 1,956 5.62 p.Arg284Gln Substitution Non-synonymous

MHCC97H KMT2C NM_170606 Chr7 151882657 151882657 – T G c.5068T>G Exon (34/59) 165 1,311 12.59 p.Arg1690Arg Substitution Synonymous

MHCC97H KMT2C NM_170606 Chr7 151945071 151945071 – G GT c.2448G>GT Exon (14/59) 28 128 21.88 – Insertion Frameshift

MHCC97H KMT2C NM_170606 Chr7 151945204 151945204 – G A c.2315G>A Exon (14/59) 45 770 5.84 p.Ser772Leu Substitution Non-synonymous

MHCC97H KMT2C NM_170606 Chr7 151962146 151962146 – C A c.1161C>A Exon (8/59) 181 1,484 12.20 p.Glu387Asp Substitution Non-synonymous

MHCC97H KMT2C NM_170606 Chr7 151962176 151962176 – T A c.1131T>A Exon (8/59) 302 1,881 16.06 p.Pro377Pro Substitution Synonymous

MHCC97H KMT2C NM_170606 Chr7 151962257 151962257 – C T c.1050C>T Exon (8/59) 99 1,626 6.09 p.Pro350Pro Substitution Synonymous

MHCC97H KMT2C NM_170606 Chr7 151962265 151962265 – C T c.1042C>T Exon (8/59) 88 1,521 5.79 p.Asp348Asn Substitution Non-synonymous

MHCC97H KMT2C NM_170606 Chr7 151970797 151970797 – A T c.1005A>T Exon (7/59) 72 456 15.79 p.Pro335Pro Substitution Synonymous

MHCC97H KMT2C NM_170606 Chr7 151970856 151970856 – T A c.946T>A Exon (7/59) 314 705 44.54 p.Thr316Ser Substitution Non-synonymous

MHCC97H KMT2C NM_170606 Chr7 151970859 151970859 – C A c.943C>A Exon (7/59) 49 724 6.77 p.Gly315Cys Substitution Non-synonymous

MHCC97H KMT2C NM_170606 Chr7 151970877 151970877 – G A c.925G>A Exon (7/59) 63 838 7.52 p.Pro309Ser Substitution Non-synonymous

MHCC97H KMT2C NM_170606 Chr7 151970931 151970931 – G A c.871G>A Exon (7/59) 417 1,176 35.46 p.Leu291Phe Substitution Non-synonymous

Hep2.2.15 KMT2C NM_170606 Chr7 151945007 151945007 – C T c.2512C>T Exon (14/59) 38 107 35.51 p.Gly838Ser Substitution Non-synonymous

Hep2.2.15 KMT2C NM_170606 Chr7 151945071 151945071 – G GT c.2448G>GT Exon (14/59) 113 419 26.97 – Insertion Frameshift

Hep2.2.15 KMT2C NM_170606 Chr7 151945101 151945101 – G C c.2418G>C Exon (14/59) 34 518 6.56 p.Ser806Ser Substitution Synonymous

Hep2.2.15 KMT2C NM_170606 Chr7 151945140 151945140 – C T c.2379C>T Exon (14/59) 147 735 20.00 p.Ser793Ser Substitution Synonymous

Hep2.2.15 KMT2C NM_170606 Chr7 151945167 151945167 – G T c.2352G>T Exon (14/59) 143 894 16.00 p.Ser784Ser Substitution Synonymous

Hep2.2.15 KMT2C NM_170606 Chr7 151945204 151945204 – G A c.2315G>A Exon (14/59) 266 1,079 24.65 p.Ser772Leu Substitution Non-synonymous

Hep2.2.15 KMT2C NM_170606 Chr7 151945215 151945215 – T C c.2304T>C Exon (14/59) 94 1,112 8.45 p.Ser768Ser Substitution Synonymous

Hep2.2.15 KMT2C NM_170606 Chr7 151962176 151962176 – T A c.1131T>A Exon (8/59) 1,302 4,139 31.46 p.Pro377Pro Substitution Synonymous

Hep2.2.15 KMT2C NM_170606 Chr7 151962257 151962257 – C T c.1050C>T Exon (8/59) 253 3,487 7.26 p.Pro350Pro Substitution Synonymous

Hep2.2.15 KMT2C NM_170606 Chr7 151962265 151962265 – C T c.1042C>T Exon (8/59) 233 3,255 7.16 p.Asp348Asn Substitution Non-synonymous

Hep2.2.15 KMT2C NM_170606 Chr7 151970856 151970856 – T A c.946T>A Exon (7/59) 840 1,288 65.22 p.Thr316Ser Substitution Non-synonymous

Hep2.2.15 KMT2C NM_170606 Chr7 151970877 151970877 – G A c.925G>A Exon (7/59) 153 1,454 10.52 p.Pro309Ser Substitution Non-synonymous

Hep2.2.15 KMT2C NM_170606 Chr7 151970884 151970884 – A G c.918A>G Exon (7/59) 77 1,503 5.12 p.Tyr306Tyr Substitution Synonymous

Hep2.2.15 KMT2C NM_170606 Chr7 151970931 151970931 – G A c.871G>A Exon (7/59) 1,194 1,998 59.76 p.Leu291Phe Substitution Non-synonymous

HepG2 KMT2C NM_170606 Chr7 151882657 151882657 – T G c.5068T>G Exon (34/59) 76 1,131 6.72 p.Arg1690Arg Substitution Synonymous

HepG2 KMT2C NM_170606 Chr7 151945071 151945071 – G GT c.2448G>GT Exon (14/59) 72 312 23.08 – Insertion Frameshift

HepG2 KMT2C NM_170606 Chr7 151945101 151945101 – G C c.2418G>C Exon (14/59) 22 406 5.42 p.Ser806Ser Substitution Synonymous

HepG2 KMT2C NM_170606 Chr7 151945140 151945140 – C T c.2379C>T Exon (14/59) 127 575 22.09 p.Ser793Ser Substitution Synonymous

HepG2 KMT2C NM_170606 Chr7 151945167 151945167 – G T c.2352G>T Exon (14/59) 124 672 18.45 p.Ser784Ser Substitution Synonymous

HepG2 KMT2C NM_170606 Chr7 151945204 151945204 – G A c.2315G>A Exon (14/59) 190 841 22.59 p.Ser772Leu Substitution Non-synonymous

HepG2 KMT2C NM_170606 Chr7 151945215 151945215 – T C c.2304T>C Exon (14/59) 54 857 6.30 p.Ser768Ser Substitution Synonymous

HepG2 KMT2C NM_170606 Chr7 151962176 151962176 – T A c.1131T>A Exon (8/59) 1,217 4,126 29.50 p.Pro377Pro Substitution Synonymous

HepG2 KMT2C NM_170606 Chr7 151962257 151962257 – C T c.1050C>T Exon (8/59) 310 3,386 9.16 p.Pro350Pro Substitution Synonymous

HepG2 KMT2C NM_170606 Chr7 151962265 151962265 – C T c.1042C>T Exon (8/59) 286 3,111 9.19 p.Asp348Asn Substitution Non-synonymous

HepG2 KMT2C NM_170606 Chr7 151970856 151970856 – T A c.946T>A Exon (7/59) 890 1,241 71.72 p.Thr316Ser Substitution Non-synonymous

HepG2 KMT2C NM_170606 Chr7 151970877 151970877 – G A c.925G>A Exon (7/59) 171 1,421 12.03 p.Pro309Ser Substitution Non-synonymous

HepG2 KMT2C NM_170606 Chr7 151970884 151970884 – A G c.918A>G Exon (7/59) 96 1,446 6.64 p.Tyr306Tyr Substitution Synonymous

HepG2 KMT2C NM_170606 Chr7 151970931 151970931 – G A c.871G>A Exon (7/59) 1,215 1,878 64.70 p.Leu291Phe Substitution Non-synonymous

SK-HEP-1 KMT2C NM_170606 Chr7 151878133 151878133 – G C c.6812G>C Exon (36/59) 6 113 5.31 p.Thr2271Arg Substitution Non-synonymous

SK-HEP-1 KMT2C NM_170606 Chr7 151945071 151945071 – G GT c.2448G>GT Exon (14/59) 11 162 6.79 – Insertion Frameshift

SK-HEP-1 KMT2C NM_170606 Chr7 151945140 151945140 – C T c.2379C>T Exon (14/59) 41 428 9.58 p.Ser793Ser Substitution Synonymous

SK-HEP-1 KMT2C NM_170606 Chr7 151945167 151945167 – G T c.2352G>T Exon (14/59) 41 586 7.00 p.Ser784Ser Substitution Synonymous

SK-HEP-1 KMT2C NM_170606 Chr7 151945204 151945204 – G A c.2315G>A Exon (14/59) 51 855 5.96 p.Ser772Leu Substitution Non-synonymous

SK-HEP-1 KMT2C NM_170606 Chr7 151962176 151962176 – T A c.1131T>A Exon (8/59) 517 2,507 20.62 p.Pro377Pro Substitution Synonymous

SK-HEP-1 KMT2C NM_170606 Chr7 151962277 151962277 – A T c.1030A>T Exon (8/59) 164 1,774 9.24 p.Cys344Ser Substitution Non-synonymous

SK-HEP-1 KMT2C NM_170606 Chr7 151962290 151962290 – C G c.1017C>G Exon (8/59) 129 1,500 8.60 p.Lys339Asn Substitution Non-synonymous

SK-HEP-1 KMT2C NM_170606 Chr7 151970797 151970797 – A T c.1005A>T Exon (7/59) 24 448 5.36 p.Pro335Pro Substitution Synonymous

SK-HEP-1 KMT2C NM_170606 Chr7 151970856 151970856 – T A c.946T>A Exon (7/59) 342 760 45.00 p.Thr316Ser Substitution Non-synonymous

SK-HEP-1 KMT2C NM_170606 Chr7 151970931 151970931 – G A c.871G>A Exon (7/59) 443 1,327 33.38 p.Leu291Phe Substitution Non-synonymous

SK-HEP-1 KMT2C NM_170606 Chr7 151970951 151970951 – C T c.851C>T Exon (7/59) 101 1,449 6.97 p.Arg284Gln Substitution Non-synonymous

HuH-7 KMT2D NM_003482 Chr12 49420995 49420995 – A G c.14754A>G Exon (48/54) 54 839 6.44 p.Pro4918Pro Substitution Synonymous

HuH-7 KMT2D NM_003482 Chr12 49432205 49432205 – A G c.8934A>G Exon (34/54) 172 764 22.51 p.Pro2978Pro Substitution Synonymous

HuH-7 KMT2D NM_003482 Chr12 49435772 49435772 – G C c.6111G>C Exon (29/54) 703 1,385 50.76 p.Asp2037Glu Substitution Non-synonymous

MHCC97L KMT2D NM_003482 Chr12 49420995 49420995 – A G c.14754A>G Exon (48/54) 60 1,036 5.79 p.Pro4918Pro Substitution Synonymous

Hep3B KMT2D NM_003482 Chr12 49420995 49420995 – A G c.14754A>G Exon (48/54) 40 428 9.35 p.Pro4918Pro Substitution Synonymous

Hep3B KMT2D NM_003482 Chr12 49421001 49421001 – C G c.14748C>G Exon (48/54) 27 454 5.95 p.Pro4916Pro Substitution Synonymous

Hep3B KMT2D NM_003482 Chr12 49433714 49433714 – C T c.7839C>T Exon (31/54) 561 789 71.10 p.Pro2613Pro Substitution Synonymous

MHCC97H KMT2D NM_003482 Chr12 49420995 49420995 – A G c.14754A>G Exon (48/54) 33 646 5.11 p.Pro4918Pro Substitution Synonymous

Hep2.2.15 KMT2D NM_003482 Chr12 49420995 49420995 – A G c.14754A>G Exon (48/54) 32 482 6.64 p.Pro4918Pro Substitution Synonymous

HepG2 KMT2D NM_003482 Chr12 49420995 49420995 – A G c.14754A>G Exon (48/54) 22 420 5.24 p.Pro4918Pro Substitution Synonymous

SK-HEP-1 KMT2D NM_003482 Chr12 49426729 49426732 – AGCT A c.11759AGCT>A Exon (39/54) 6 119 5.04 – Deletion Inframe

Hep2.2.15 LRP1B NM_018557 Chr2 141299517 141299517 – C A c.7218C>A Exon (44/91) 298 896 33.26 p.Gly2406Gly Substitution Synonymous

SK-HEP-1 LRP1B NM_018557 Chr2 141526812 141526812 – A T c.5728A>T Exon (35/91) 923 1,165 79.23 p.Ser1910Thr Substitution Non-synonymous

Hep3B LRP8 NM_001018054 Chr1 53732147 53732147 – A G c.1425A>G Exon (9/18) 513 515 99.61 p.Tyr475Tyr Substitution Synonymous

Hep3B LYST NM_000081 Chr1 235993565 235993565 – T G c.153T>G Exon (3/53) 671 850 78.94 p.Gly51Gly Substitution Synonymous

MHCC97L MAP2K3 NM_002756 Chr17 21203963 21203963 + C T c.185C>T Exon (4/12) 75 894 8.39 p.Ala62Val Substitution Non-synonymous

MHCC97H MAP2K3 NM_002756 Chr17 21203963 21203963 + C T c.185C>T Exon (4/12) 50 601 8.32 p.Ala62Val Substitution Non-synonymous

HuH-7 MAP3K1 NM_005921 Chr5 56177848 56177851 + TCAA T c.2821TCAA>T Exon (14/20) 729 904 80.64 – Deletion Inframe

MHCC97L MAP3K1 NM_005921 Chr5 56177848 56177851 + TCAA T c.2821TCAA>T Exon (14/20) 689 800 86.12 – Deletion Inframe

MHCC97H MAP3K1 NM_005921 Chr5 56177848 56177851 + TCAA T c.2821TCAA>T Exon (14/20) 440 515 85.44 – Deletion Inframe

Hep2.2.15 MAP3K1 NM_005921 Chr5 56177848 56177851 + TCAA T c.2821TCAA>T Exon (14/20) 359 948 37.87 – Deletion Inframe

HepG2 MAP3K1 NM_005921 Chr5 56177848 56177851 + TCAA T c.2821TCAA>T Exon (14/20) 296 675 43.85 – Deletion Inframe

SK-HEP-1 MAP3K1 NM_005921 Chr5 56177848 56177851 + TCAA T c.2821TCAA>T Exon (14/20) 490 605 80.99 – Deletion Inframe

SK-HEP-1 MAP3K1 NM_005921 Chr5 56177848 56177854 + TCAACAA T c.2821TCAACAA>T Exon (14/20) 31 605 5.12 – Deletion Inframe

MHCC97L MSH3 NM_002439 Chr5 80169088 80169088 + G A c.3284G>A Exon (23/24) 388 804 48.26 p.Gly1095Glu Substitution Non-synonymous

MHCC97H MSH3 NM_002439 Chr5 80169088 80169088 + G A c.3284G>A Exon (23/24) 241 472 51.06 p.Gly1095Glu Substitution Non-synonymous

Hep2.2.15 MSH3 NM_002439 Chr5 79950699 79950717 + TGCAGCGGCTGCAGCGGCC T c.153TGCAGCGGCTGCAGCGGCC>T Exon (1/24) 67 253 26.48 – Deletion Inframe

Hep2.2.15 MSH3 NM_002439 Chr5 79950741 79950750 + GCCCCCAGCT G c.195GCCCCCAGCT>G Exon (1/24) 109 179 60.89 – Deletion Inframe

HepG2 MSH3 NM_002439 Chr5 79950699 79950717 + TGCAGCGGCTGCAGCGGCC T c.153TGCAGCGGCTGCAGCGGCC>T Exon (1/24) 59 242 24.38 – Deletion Inframe

HepG2 MSH3 NM_002439 Chr5 79950741 79950750 + GCCCCCAGCT G c.195GCCCCCAGCT>G Exon (1/24) 79 159 49.69 – Deletion Inframe

SK-HEP-1 MSH3 NM_002439 Chr5 79950724 79950724 + G GCCGCAGCGC c.178G>GCCGCAGCGC Exon (1/24) 19 170 11.18 – Insertion Inframe

SK-HEP-1 MSH3 NM_002439 Chr5 79950736 79950736 + C G c.190C>G Exon (1/24) 28 148 18.92 p.Pro64Ala Substitution Non-synonymous

SK-HEP-1 MSH3 NM_002439 Chr5 79950750 79950750 + T G c.204T>G Exon (1/24) 10 115 8.70 p.Ala68Ala Substitution Synonymous

HuH-7 MSH6 NM_001281494 Chr2 48032098 48032098 + A T c.2582A>T Exon (6/10) 478 1,311 36.46 p.Glu861Val Substitution Non-synonymous

Hep3B MSH6 NM_001281494 Chr2 48033700 48033700 + G A c.3005G>A Exon (9/10) 209 773 27.04 p.Arg1002Lys Substitution Non-synonymous

Hep2.2.15 MUTYH NM_001048173 Chr1 45797519 45797519 – G C c.916G>C Exon (12/16) 507 1,051 48.24 p.Pro306Ala Substitution Non-synonymous

HepG2 MUTYH NM_001048173 Chr1 45797519 45797519 – G C c.916G>C Exon (12/16) 370 777 47.62 p.Pro306Ala Substitution Non-synonymous

MHCC97L NCOR1 NM_006311 Chr17 15973828 15973828 – T C c.4164T>C Exon (31/46) 61 187 32.62 p.Ile1388Met Substitution Non-synonymous

MHCC97H NCOR1 NM_006311 Chr17 15973828 15973828 – T C c.4164T>C Exon (31/46) 35 105 33.33 p.Ile1388Met Substitution Non-synonymous

HuH-7 NID1 NM_002508 Chr1 236201534 236201534 – A G c.1155A>G Exon (5/20) 494 506 97.63 p.Asp385Asp Substitution Synonymous

Hep3B NID1 NM_002508 Chr1 236205440 236205440 – C T c.905C>T Exon (4/20) 498 498 100.00 p.Arg302His Substitution Non-synonymous

Hep2.2.15 NID1 NM_002508 Chr1 236208840 236208840 – T C c.669T>C Exon (3/20) 61 1,151 5.30 p.Gln223Gln Substitution Synonymous

HuH-7 NIPAL3 NM_020448 Chr1 24782710 24782710 + C T c.720C>T Exon (8/12) 105 1,613 6.51 p.Pro240Pro Substitution Synonymous

HuH-7 NOTCH1 NM_017617 Chr9 139417493 139417493 – T C c.551T>C Exon (4/34) 903 924 97.73 p.Gln184Arg Substitution Non-synonymous

HuH-7 NOTCH1 NM_017617 Chr9 139391543 139391543 – C T c.6648C>T Exon (34/34) 1,264 1,277 98.98 p.Pro2216Pro Substitution Synonymous

MHCC97L NOTCH1 NM_017617 Chr9 139391543 139391543 – C T c.6648C>T Exon (34/34) 674 1,069 63.05 p.Pro2216Pro Substitution Synonymous

Hep3B NOTCH1 NM_017617 Chr9 139391737 139391737 – C G c.6454C>G Exon (34/34) 204 309 66.02 p.Gly2152Arg Substitution Non-synonymous

MHCC97H NOTCH1 NM_017617 Chr9 139391543 139391543 – C T c.6648C>T Exon (34/34) 404 753 53.65 p.Pro2216Pro Substitution Synonymous

Hep2.2.15 NOTCH1 NM_017617 Chr9 139391816 139391816 – G C c.6375G>C Exon (34/34) 134 238 56.30 p.His2125Gln Substitution Non-synonymous

HepG2 NOTCH1 NM_017617 Chr9 139391816 139391816 – G C c.6375G>C Exon (34/34) 146 263 55.51 p.His2125Gln Substitution Non-synonymous

HuH-7 NOTCH2 NM_024408 Chr1 120612002 120612004 – CGG C c.19CGG>C Exon (1/34) 33 267 12.36 – Deletion Frameshift

HuH-7 NOTCH2 NM_024408 Chr1 120612006 120612006 – G A c.15G>A Exon (1/34) 126 250 50.40 p.Arg5Arg Substitution Synonymous

MHCC97L NOTCH2 NM_024408 Chr1 120612002 120612004 – CGG C c.19CGG>C Exon (1/34) 76 149 51.01 – Deletion Frameshift

Hep3B NOTCH2 NM_024408 Chr1 120612002 120612004 – CGG C c.19CGG>C Exon (1/34) 18 103 17.48 – Deletion Frameshift

Hep2.2.15 NOTCH2 NM_024408 Chr1 120612002 120612004 – CGG C c.19CGG>C Exon (1/34) 14 140 10.00 – Deletion Frameshift

Hep2.2.15 NOTCH2 NM_024408 Chr1 120612006 120612006 – G A c.15G>A Exon (1/34) 51 136 37.50 p.Arg5Arg Substitution Synonymous

HepG2 NOTCH2 NM_024408 Chr1 120612002 120612004 – CGG C c.19CGG>C Exon (1/34) 12 133 9.02 – Deletion Frameshift

HepG2 NOTCH2 NM_024408 Chr1 120612006 120612006 – G A c.15G>A Exon (1/34) 46 126 36.51 p.Arg5Arg Substitution Synonymous

SK-HEP-1 NOTCH2 NM_024408 Chr1 120612002 120612004 – CGG C c.19CGG>C Exon (1/34) 34 194 17.53 – Deletion Frameshift

SK-HEP-1 NOTCH2 NM_024408 Chr1 120612006 120612006 – G A c.15G>A Exon (1/34) 76 186 40.86 p.Arg5Arg Substitution Synonymous

HuH-7 NOTCH3 NM_000435 Chr19 15285063 15285063 – G T c.4552G>T Exon (25/33) 297 301 98.67 p.Leu1518Met Substitution Non-synonymous

Hep2.2.15 NRAS NM_002524 Chr1 115256529 115256529 – T A c.182T>A Exon (3/7) 539 835 64.55 p.Gln61Leu Substitution Non-synonymous

HepG2 NRAS NM_002524 Chr1 115256529 115256529 – T A c.182T>A Exon (3/7) 425 878 48.41 p.Gln61Leu Substitution Non-synonymous

HuH-7 OBSCN NM_052843 Chr1 228469821 228469821 + G A c.8385G>A Exon (31/81) 1,051 1,149 91.47 p.Val2795Val Substitution Synonymous

HuH-7 OBSCN NM_052843 Chr1 228522866 228522866 + C T c.16272C>T Exon (62/81) 213 220 96.82 p.Thr5424Thr Substitution Synonymous

HuH-7 OBSCN NM_001271223 Chr1 228560700 228560700 + T C c.25092T>C Exon (105/116) 791 800 98.88 p.Asp8364Asp Substitution Synonymous

MHCC97L OBSCN NM_052843 Chr1 228456239 228456239 + G C c.4870G>C Exon (17/81) 38 493 7.71 p.Val1624Leu Substitution Non-synonymous

MHCC97L OBSCN NM_052843 Chr1 228456261 228456261 + C A c.4892C>A Exon (17/81) 43 543 7.92 p.Pro1631Gln Substitution Non-synonymous

MHCC97L OBSCN NM_052843 Chr1 228456262 228456262 + A G c.4893A>G Exon (17/81) 43 551 7.80 p.Pro1631Pro Substitution Synonymous

MHCC97L OBSCN NM_052843 Chr1 228456271 228456271 + G C c.4902G>C Exon (17/81) 35 576 6.08 p.Arg1634Ser Substitution Non-synonymous

MHCC97L OBSCN NM_052843 Chr1 228456278 228456278 + C A c.4909C>A Exon (17/81) 52 592 8.78 p.Gln1637Lys Substitution Non-synonymous

MHCC97L OBSCN NM_052843 Chr1 228456283 228456283 + T A c.4914T>A Exon (17/81) 48 605 7.93 p.Ala1638Ala Substitution Synonymous

MHCC97L OBSCN NM_052843 Chr1 228456298 228456298 + T C c.4929T>C Exon (17/81) 46 633 7.27 p.Ser1643Ser Substitution Synonymous

MHCC97L OBSCN NM_052843 Chr1 228456304 228456304 + G A c.4935G>A Exon (17/81) 63 662 9.52 p.Thr1645Thr Substitution Synonymous

MHCC97L OBSCN NM_052843 Chr1 228456334 228456334 + A T c.4965A>T Exon (17/81) 82 754 10.88 p.Thr1655Thr Substitution Synonymous

MHCC97L OBSCN NM_052843 Chr1 228456343 228456343 + G A c.4974G>A Exon (17/81) 83 746 11.13 p.Thr1658Thr Substitution Synonymous

MHCC97L OBSCN NM_052843 Chr1 228456348 228456348 + A T c.4979A>T Exon (17/81) 82 743 11.04 p.Tyr1660Phe Substitution Non-synonymous

MHCC97L OBSCN NM_052843 Chr1 228456355 228456355 + T C c.4986T>C Exon (17/81) 76 757 10.04 p.Asp1662Asp Substitution Synonymous

MHCC97L OBSCN NM_052843 Chr1 228456370 228456370 + T C c.5001T>C Exon (17/81) 92 772 11.92 p.Ser1667Ser Substitution Synonymous

MHCC97L OBSCN NM_052843 Chr1 228456382 228456382 + A G c.5013A>G Exon (17/81) 95 776 12.24 p.Lys1671Lys Substitution Synonymous

MHCC97L OBSCN NM_052843 Chr1 228456398 228456398 + G T c.5029G>T Exon (17/81) 79 745 10.60 p.Val1677Leu Substitution Non-synonymous

MHCC97L OBSCN NM_052843 Chr1 228456399 228456399 + T C c.5030T>C Exon (17/81) 82 740 11.08 p.Val1677Ala Substitution Non-synonymous

MHCC97L OBSCN NM_052843 Chr1 228456407 228456407 + A T c.5038A>T Exon (17/81) 79 735 10.75 p.Thr1680Ser Substitution Non-synonymous

MHCC97L OBSCN NM_052843 Chr1 228456409 228456409 + A C c.5040A>C Exon (17/81) 81 741 10.93 p.Thr1680Thr Substitution Synonymous

MHCC97L OBSCN NM_052843 Chr1 228456410 228456410 + C A c.5041C>A Exon (17/81) 82 744 11.02 p.Arg1681Arg Substitution Synonymous

MHCC97L OBSCN NM_052843 Chr1 228456437 228456437 + C A c.5068C>A Exon (17/81) 76 679 11.19 p.Gln1690Lys Substitution Non-synonymous

MHCC97L OBSCN NM_052843 Chr1 228456442 228456442 + A G c.5073A>G Exon (17/81) 63 656 9.60 p.Ala1691Ala Substitution Synonymous

MHCC97L OBSCN NM_052843 Chr1 228456445 228456445 + G T c.5076G>T Exon (17/81) 65 642 10.12 p.Glu1692Asp Substitution Non-synonymous

MHCC97L OBSCN NM_052843 Chr1 228456448 228456448 + C T c.5079C>T Exon (17/81) 65 628 10.35 p.Ala1693Ala Substitution Synonymous

MHCC97L OBSCN NM_052843 Chr1 228456469 228456469 + A C c.5100A>C Exon (17/81) 58 570 10.18 p.Ala1700Ala Substitution Synonymous

MHCC97L OBSCN NM_052843 Chr1 228456475 228456475 + T A c.5106T>A Exon (17/81) 36 554 6.50 p.Gly1702Gly Substitution Synonymous

MHCC97L OBSCN NM_052843 Chr1 228456479 228456479 + C A c.5110C>A Exon (17/81) 56 546 10.26 p.Gln1704Lys Substitution Non-synonymous

MHCC97L OBSCN NM_052843 Chr1 228456497 228456497 + C G c.5128C>G Exon (17/81) 38 477 7.97 p.Gln1710Glu Substitution Non-synonymous

MHCC97L OBSCN NM_052843 Chr1 228456499 228456499 + G C c.5130G>C Exon (17/81) 33 477 6.92 p.Gln1710His Substitution Non-synonymous

MHCC97L OBSCN NM_052843 Chr1 228469821 228469821 + G A c.8385G>A Exon (31/81) 878 1,319 66.57 p.Val2795Val Substitution Synonymous

MHCC97L OBSCN NM_001271223 Chr1 228560700 228560700 + T C c.25092T>C Exon (105/116) 957 960 99.69 p.Asp8364Asp Substitution Synonymous

Hep3B OBSCN NM_052843 Chr1 228547511 228547511 + G A c.18918G>A Exon (81/81) 38 207 18.36 p.Thr6306Thr Substitution Synonymous

Hep3B OBSCN NM_052843 Chr1 228548116 228548116 + C A c.19523C>A Exon (81/81) 60 208 28.85 p.Thr6508Lys Substitution Non-synonymous

Hep3B OBSCN NM_001271223 Chr1 228560286 228560286 + C T c.24678C>T Exon (105/116) 738 968 76.24 p.Thr8226Thr Substitution Synonymous

Hep3B OBSCN NM_001271223 Chr1 228560700 228560700 + T C c.25092T>C Exon (105/116) 837 840 99.64 p.Asp8364Asp Substitution Synonymous

Hep3B OBSCN NM_001271223 Chr1 228566029 228566029 + G A c.26502G>A Exon (115/116) 124 177 70.06 p.Leu8834Leu Substitution Synonymous

MHCC97H OBSCN NM_052843 Chr1 228469821 228469821 + G A c.8385G>A Exon (31/81) 496 772 64.25 p.Val2795Val Substitution Synonymous

MHCC97H OBSCN NM_001271223 Chr1 228560700 228560700 + T C c.25092T>C Exon (105/116) 569 569 100.00 p.Asp8364Asp Substitution Synonymous

Hep2.2.15 OBSCN NM_001271223 Chr1 228559887 228559887 + C T c.24279C>T Exon (105/116) 106 357 29.69 p.Ser8093Ser Substitution Synonymous

Hep2.2.15 OBSCN NM_001271223 Chr1 228560700 228560700 + T C c.25092T>C Exon (105/116) 568 574 98.95 p.Asp8364Asp Substitution Synonymous

HepG2 OBSCN NM_001271223 Chr1 228560700 228560700 + T C c.25092T>C Exon (105/116) 562 562 100.00 p.Asp8364Asp Substitution Synonymous

SK-HEP-1 OBSCN NM_052843 Chr1 228465516 228465516 + T G c.6816T>G Exon (25/81) 401 578 69.38 p.Phe2272Leu Substitution Non-synonymous

SK-HEP-1 OBSCN NM_001271223 Chr1 228560700 228560700 + T C c.25092T>C Exon (105/116) 366 555 65.95 p.Asp8364Asp Substitution Synonymous

Hep3B OR13G1 NM_001005487 Chr1 247835768 247835768 – A G c.576A>G Exon (1/1) 929 1,263 73.56 p.Asn192Asn Substitution Synonymous

Hep3B OR13G1 NM_001005487 Chr1 247835961 247835961 – T C c.383T>C Exon (1/1) 857 1,150 74.52 p.His128Arg Substitution Non-synonymous

HuH-7 OR2T12 NM_001004692 Chr1 248458676 248458676 – T C c.205T>C Exon (1/1) 263 267 98.50 p.Met69Val Substitution Non-synonymous

HuH-7 OR2T12 NM_001004692 Chr1 248458717 248458717 – C G c.164C>G Exon (1/1) 504 507 99.41 p.Arg55Thr Substitution Non-synonymous

MHCC97L OR2T12 NM_001004692 Chr1 248458676 248458676 – T C c.205T>C Exon (1/1) 321 321 100.00 p.Met69Val Substitution Non-synonymous

MHCC97L OR2T12 NM_001004692 Chr1 248458717 248458717 – C G c.164C>G Exon (1/1) 591 595 99.33 p.Arg55Thr Substitution Non-synonymous

Hep3B OR2T12 NM_001004692 Chr1 248458676 248458676 – T C c.205T>C Exon (1/1) 237 327 72.48 p.Met69Val Substitution Non-synonymous

MHCC97H OR2T12 NM_001004692 Chr1 248458676 248458676 – T C c.205T>C Exon (1/1) 171 171 100.00 p.Met69Val Substitution Non-synonymous

MHCC97H OR2T12 NM_001004692 Chr1 248458717 248458717 – C G c.164C>G Exon (1/1) 371 371 100.00 p.Arg55Thr Substitution Non-synonymous

Hep2.2.15 OR2T12 NM_001004692 Chr1 248458676 248458676 – T C c.205T>C Exon (1/1) 166 168 98.81 p.Met69Val Substitution Non-synonymous

Hep2.2.15 OR2T12 NM_001004692 Chr1 248458717 248458717 – C G c.164C>G Exon (1/1) 315 315 100.00 p.Arg55Thr Substitution Non-synonymous

Hep2.2.15 OR2T12 NM_001004692 Chr1 248458875 248458876 – CT C c.6CT>C Exon (1/1) 866 897 96.54 – Deletion Frameshift

HepG2 OR2T12 NM_001004692 Chr1 248458676 248458676 – T C c.205T>C Exon (1/1) 153 163 93.87 p.Met69Val Substitution Non-synonymous

HepG2 OR2T12 NM_001004692 Chr1 248458717 248458717 – C G c.164C>G Exon (1/1) 304 309 98.38 p.Arg55Thr Substitution Non-synonymous

HepG2 OR2T12 NM_001004692 Chr1 248458875 248458876 – CT C c.6CT>C Exon (1/1) 741 782 94.76 – Deletion Frameshift

SK-HEP-1 OR2T12 NM_001004692 Chr1 248458676 248458676 – T C c.205T>C Exon (1/1) 103 156 66.03 p.Met69Val Substitution Non-synonymous

SK-HEP-1 OR2T12 NM_001004692 Chr1 248458717 248458717 – C G c.164C>G Exon (1/1) 234 345 67.83 p.Arg55Thr Substitution Non-synonymous

Hep3B OR2T2 NM_001004136 Chr1 248616401 248616401 + G A c.303G>A Exon (1/1) 176 263 66.92 p.Gln101Gln Substitution Synonymous

Hep3B OR2T2 NM_001004136 Chr1 248616408 248616408 + C T c.310C>T Exon (1/1) 171 256 66.80 p.Leu104Phe Substitution Non-synonymous

Hep3B OR2T2 NM_001004136 Chr1 248616418 248616418 + C A c.320C>A Exon (1/1) 88 256 34.38 p.Thr107Asn Substitution Non-synonymous

Hep2.2.15 OR2T2 NM_001004136 Chr1 248616401 248616401 + G A c.303G>A Exon (1/1) 48 225 21.33 p.Gln101Gln Substitution Synonymous

Hep2.2.15 OR2T2 NM_001004136 Chr1 248616408 248616408 + C T c.310C>T Exon (1/1) 48 226 21.24 p.Leu104Phe Substitution Non-synonymous

HepG2 OR2T2 NM_001004136 Chr1 248616401 248616401 + G A c.303G>A Exon (1/1) 36 198 18.18 p.Gln101Gln Substitution Synonymous

HepG2 OR2T2 NM_001004136 Chr1 248616408 248616408 + C T c.310C>T Exon (1/1) 36 204 17.65 p.Leu104Phe Substitution Non-synonymous

SK-HEP-1 OR2T2 NM_001004136 Chr1 248616401 248616401 + G A c.303G>A Exon (1/1) 22 186 11.83 p.Gln101Gln Substitution Synonymous

SK-HEP-1 OR2T2 NM_001004136 Chr1 248616408 248616408 + C T c.310C>T Exon (1/1) 22 197 11.17 p.Leu104Phe Substitution Non-synonymous

HuH-7 OR2T4 NM_001004696 Chr1 248525638 248525639 + CA C c.756CA>C Exon (1/1) 633 641 98.75 – Deletion Frameshift

MHCC97L OR2T4 NM_001004696 Chr1 248525638 248525639 + CA C c.756CA>C Exon (1/1) 771 783 98.47 – Deletion Frameshift

MHCC97H OR2T4 NM_001004696 Chr1 248525638 248525639 + CA C c.756CA>C Exon (1/1) 406 413 98.31 – Deletion Frameshift

SK-HEP-1 OR2T4 NM_001004696 Chr1 248525638 248525639 + CA C c.756CA>C Exon (1/1) 280 430 65.12 – Deletion Frameshift

Hep3B OR4C13 NM_001001955 Chr11 49974473 49974473 + T C c.499T>C Exon (1/1) 267 484 55.17 p.Cys167Arg Substitution Non-synonymous

Hep3B OR51A4 NM_001005329 Chr11 4967985 4967985 – C G c.346C>G Exon (1/1) 182 2,306 7.89 p.Val116Leu Substitution Non-synonymous

Hep2.2.15 OR6F1 NM_001005286 Chr1 247875248 247875248 – C A c.810C>A Exon (1/1) 180 786 22.90 p.Leu270Leu Substitution Synonymous

HuH-7 OSBPL9 NM_148909 Chr1 52246957 52246957 + G A c.1408G>A Exon (16/24) 48 742 6.47 p.Glu470Lys Substitution Non-synonymous

HuH-7 PARS2 NM_152268 Chr1 55223709 55223709 – G A c.1126G>A Exon (2/2) 36 719 5.01 p.Pro376Ser Substitution Non-synonymous

Hep3B PARS2 NM_152268 Chr1 55223524 55223524 – G C c.1311G>C Exon (2/2) 617 619 99.68 p.Gly437Gly Substitution Synonymous

MHCC97L PEG3 NM_006210 Chr19 57326753 57326753 – G A c.3057G>A Exon (10/10) 1,084 2,271 47.73 p.Tyr1019Tyr Substitution Synonymous

MHCC97H PEG3 NM_006210 Chr19 57326753 57326753 – G A c.3057G>A Exon (10/10) 423 1,096 38.59 p.Tyr1019Tyr Substitution Synonymous

HuH-7 PRSS3 NM_001197097 Chr9 33796721 33796721 + C T c.163C>T Exon (3/6) 59 601 9.82 p.Leu55Leu Substitution Synonymous

HuH-7 PRSS3 NM_001197097 Chr9 33796734 33796734 + C A c.176C>A Exon (3/6) 85 659 12.90 p.Ser59Tyr Substitution Non-synonymous

HuH-7 PRSS3 NM_001197097 Chr9 33796777 33796777 + A G c.219A>G Exon (3/6) 102 590 17.29 p.Val73Val Substitution Synonymous

HuH-7 PRSS3 NM_001197097 Chr9 33796785 33796785 + C G c.227C>G Exon (3/6) 101 556 18.17 p.Ala76Gly Substitution Non-synonymous

HuH-7 PRSS3 NM_001197097 Chr9 33796799 33796799 + A T c.241A>T Exon (3/6) 103 511 20.16 p.Thr81Ser Substitution Non-synonymous

HuH-7 PRSS3 NM_001197097 Chr9 33797861 33797861 + A G c.277A>G Exon (4/6) 222 779 28.50 p.Lys93Glu Substitution Non-synonymous

HuH-7 PRSS3 NM_001197097 Chr9 33797881 33797881 + G A c.297G>A Exon (4/6) 325 999 32.53 p.Glu99Glu Substitution Synonymous

HuH-7 PRSS3 NM_001197097 Chr9 33797917 33797917 + T C c.333T>C Exon (4/6) 432 1,296 33.33 p.Pro111Pro Substitution Synonymous

HuH-7 PRSS3 NM_001197097 Chr9 33797928 33797928 + G GCC c.344G>GCC Exon (4/6) 352 1,342 26.23 – Insertion Frameshift

HuH-7 PRSS3 NM_001197097 Chr9 33797930 33797932 + GAC G c.346GAC>G Exon (4/6) 362 1,360 26.62 – Deletion Frameshift

HuH-7 PRSS3 NM_001197097 Chr9 33797930 33797930 + G C c.346G>C Exon (4/6) 83 1,360 6.10 p.Asp116His Substitution Non-synonymous

HuH-7 PRSS3 NM_001197097 Chr9 33797931 33797931 + A G c.347A>G Exon (4/6) 79 1,348 5.86 p.Asp116Gly Substitution Non-synonymous

HuH-7 PRSS3 NM_001197097 Chr9 33797951 33797951 + A C c.367A>C Exon (4/6) 457 1,366 33.46 p.Met123Leu Substitution Non-synonymous

HuH-7 PRSS3 NM_001197097 Chr9 33797962 33797962 + A G c.378A>G Exon (4/6) 462 1,313 35.19 p.Lys126Lys Substitution Synonymous

HuH-7 PRSS3 NM_001197097 Chr9 33797987 33797987 + G T c.403G>T Exon (4/6) 451 1,193 37.80 p.Ala135Ser Substitution Non-synonymous

HuH-7 PRSS3 NM_001197097 Chr9 33797999 33797999 + A G c.415A>G Exon (4/6) 422 1,085 38.89 p.Thr139Ala Substitution Non-synonymous

HuH-7 PRSS3 NM_001197097 Chr9 33798016 33798016 + C T c.432C>T Exon (4/6) 346 915 37.81 p.Thr144Thr Substitution Synonymous

HuH-7 PRSS3 NM_001197097 Chr9 33798017 33798017 + A G c.433A>G Exon (4/6) 882 885 99.66 p.Thr145Ala Substitution Non-synonymous

HuH-7 PRSS3 NM_001197097 Chr9 33798037 33798037 + T C c.453T>C Exon (4/6) 281 754 37.27 p.Thr151Thr Substitution Synonymous

HuH-7 PRSS3 NM_001197097 Chr9 33798042 33798042 + G C c.458G>C Exon (4/6) 262 718 36.49 p.Cys153Ser Substitution Non-synonymous

HuH-7 PRSS3 NM_001197097 Chr9 33798073 33798073 + C T c.489C>T Exon (4/6) 177 485 36.49 p.Ser163Ser Substitution Synonymous

HuH-7 PRSS3 NM_001197097 Chr9 33798075 33798075 + T C c.491T>C Exon (4/6) 161 465 34.62 p.Phe164Ser Substitution Non-synonymous

MHCC97L PRSS3 NM_001197097 Chr9 33796660 33796660 + T C c.102T>C Exon (3/6) 294 830 35.42 p.Asp34Asp Substitution Synonymous

MHCC97L PRSS3 NM_001197097 Chr9 33796672 33796672 + T C c.114T>C Exon (3/6) 360 973 37.00 p.Ile38Ile Substitution Synonymous

MHCC97L PRSS3 NM_001197097 Chr9 33796673 33796673 + G A c.115G>A Exon (3/6) 364 997 36.51 p.Val39Ile Substitution Non-synonymous

MHCC97L PRSS3 NM_001197097 Chr9 33796734 33796734 + C A c.176C>A Exon (3/6) 90 1,635 5.50 p.Ser59Tyr Substitution Non-synonymous

MHCC97L PRSS3 NM_001197097 Chr9 33796777 33796777 + A G c.219A>G Exon (3/6) 119 1,477 8.06 p.Val73Val Substitution Synonymous

MHCC97L PRSS3 NM_001197097 Chr9 33796785 33796785 + C G c.227C>G Exon (3/6) 120 1,370 8.76 p.Ala76Gly Substitution Non-synonymous

MHCC97L PRSS3 NM_001197097 Chr9 33796799 33796799 + A T c.241A>T Exon (3/6) 432 1,127 38.33 p.Thr81Ser Substitution Non-synonymous

MHCC97L PRSS3 NM_001197097 Chr9 33797861 33797861 + A G c.277A>G Exon (4/6) 196 1,163 16.85 p.Lys93Glu Substitution Non-synonymous

MHCC97L PRSS3 NM_001197097 Chr9 33797881 33797881 + G A c.297G>A Exon (4/6) 285 1,471 19.37 p.Glu99Glu Substitution Synonymous

MHCC97L PRSS3 NM_001197097 Chr9 33797917 33797917 + T C c.333T>C Exon (4/6) 402 1,965 20.46 p.Pro111Pro Substitution Synonymous

MHCC97L PRSS3 NM_001197097 Chr9 33797928 33797928 + G GCC c.344G>GCC Exon (4/6) 336 2,065 16.27 – Insertion Frameshift

MHCC97L PRSS3 NM_001197097 Chr9 33797930 33797932 + GAC G c.346GAC>G Exon (4/6) 348 2,071 16.80 – Deletion Frameshift

MHCC97L PRSS3 NM_001197097 Chr9 33797951 33797951 + A C c.367A>C Exon (4/6) 467 2,129 21.94 p.Met123Leu Substitution Non-synonymous

MHCC97L PRSS3 NM_001197097 Chr9 33797962 33797962 + A G c.378A>G Exon (4/6) 457 2,057 22.22 p.Lys126Lys Substitution Synonymous

MHCC97L PRSS3 NM_001197097 Chr9 33797987 33797987 + G T c.403G>T Exon (4/6) 440 1,804 24.39 p.Ala135Ser Substitution Non-synonymous

MHCC97L PRSS3 NM_001197097 Chr9 33797999 33797999 + A G c.415A>G Exon (4/6) 398 1,622 24.54 p.Thr139Ala Substitution Non-synonymous

MHCC97L PRSS3 NM_001197097 Chr9 33798016 33798016 + C T c.432C>T Exon (4/6) 319 1,374 23.22 p.Thr144Thr Substitution Synonymous

MHCC97L PRSS3 NM_001197097 Chr9 33798017 33798017 + A G c.433A>G Exon (4/6) 1,360 1,365 99.63 p.Thr145Ala Substitution Non-synonymous

MHCC97L PRSS3 NM_001197097 Chr9 33798037 33798037 + T C c.453T>C Exon (4/6) 255 1,135 22.47 p.Thr151Thr Substitution Synonymous

MHCC97L PRSS3 NM_001197097 Chr9 33798042 33798042 + G C c.458G>C Exon (4/6) 241 1,078 22.36 p.Cys153Ser Substitution Non-synonymous

MHCC97L PRSS3 NM_001197097 Chr9 33798073 33798073 + C T c.489C>T Exon (4/6) 127 646 19.66 p.Ser163Ser Substitution Synonymous

MHCC97L PRSS3 NM_001197097 Chr9 33798075 33798075 + T C c.491T>C Exon (4/6) 120 620 19.35 p.Phe164Ser Substitution Non-synonymous

Hep3B PRSS3 NM_001197097 Chr9 33796686 33796686 + C A c.128C>A Exon (3/6) 21 343 6.12 p.Thr43Asn Substitution Non-synonymous

Hep3B PRSS3 NM_001197097 Chr9 33796703 33796703 + C G c.145C>G Exon (3/6) 49 414 11.84 p.Leu49Val Substitution Non-synonymous

Hep3B PRSS3 NM_001197097 Chr9 33796721 33796721 + C T c.163C>T Exon (3/6) 39 489 7.98 p.Leu55Leu Substitution Synonymous

Hep3B PRSS3 NM_001197097 Chr9 33796734 33796734 + C A c.176C>A Exon (3/6) 97 524 18.51 p.Ser59Tyr Substitution Non-synonymous

Hep3B PRSS3 NM_001197097 Chr9 33796744 33796744 + C T c.186C>T Exon (3/6) 40 549 7.29 p.Cys62Cys Substitution Synonymous

Hep3B PRSS3 NM_001197097 Chr9 33796746 33796746 + G T c.188G>T Exon (3/6) 39 548 7.12 p.Gly63Val Substitution Non-synonymous

Hep3B PRSS3 NM_001197097 Chr9 33796758 33796758 + T A c.200T>A Exon (3/6) 42 527 7.97 p.Ile67Asn Substitution Non-synonymous

Hep3B PRSS3 NM_001197097 Chr9 33796762 33796762 + C G c.204C>G Exon (3/6) 42 519 8.09 p.Ser68Arg Substitution Non-synonymous

Hep3B PRSS3 NM_001197097 Chr9 33796766 33796766 + C T c.208C>T Exon (3/6) 42 509 8.25 p.Gln70* Substitution Stop-codon-gain

Hep3B PRSS3 NM_001197097 Chr9 33796777 33796777 + A G c.219A>G Exon (3/6) 118 486 24.28 p.Val73Val Substitution Synonymous

Hep3B PRSS3 NM_001197097 Chr9 33796785 33796785 + C G c.227C>G Exon (3/6) 77 461 16.70 p.Ala76Gly Substitution Non-synonymous

Hep3B PRSS3 NM_001197097 Chr9 33796799 33796799 + A T c.241A>T Exon (3/6) 121 421 28.74 p.Thr81Ser Substitution Non-synonymous

Hep3B PRSS3 NM_001197097 Chr9 33797861 33797861 + A G c.277A>G Exon (4/6) 61 534 11.42 p.Lys93Glu Substitution Non-synonymous

Hep3B PRSS3 NM_001197097 Chr9 33797881 33797881 + G A c.297G>A Exon (4/6) 129 684 18.86 p.Glu99Glu Substitution Synonymous

Hep3B PRSS3 NM_001197097 Chr9 33797891 33797891 + A T c.307A>T Exon (4/6) 55 756 7.28 p.Asn103Tyr Substitution Non-synonymous

Hep3B PRSS3 NM_001197097 Chr9 33797896 33797896 + G A c.312G>A Exon (4/6) 109 785 13.89 p.Ala104Ala Substitution Synonymous

Hep3B PRSS3 NM_001197097 Chr9 33797898 33797898 + C T c.314C>T Exon (4/6) 56 790 7.09 p.Ala105Val Substitution Non-synonymous

Hep3B PRSS3 NM_001197097 Chr9 33797917 33797917 + T C c.333T>C Exon (4/6) 219 941 23.27 p.Pro111Pro Substitution Synonymous

Hep3B PRSS3 NM_001197097 Chr9 33797928 33797928 + G GCC c.344G>GCC Exon (4/6) 114 972 11.73 – Insertion Frameshift

Hep3B PRSS3 NM_001197097 Chr9 33797929 33797929 + G C c.345G>C Exon (4/6) 86 975 8.82 p.Arg115Ser Substitution Non-synonymous

Hep3B PRSS3 NM_001197097 Chr9 33797930 33797932 + GAC G c.346GAC>G Exon (4/6) 152 1,001 15.18 – Deletion Frameshift

Hep3B PRSS3 NM_001197097 Chr9 33797930 33797930 + G T c.346G>T Exon (4/6) 54 1,001 5.39 p.Asp116Tyr Substitution Non-synonymous

Hep3B PRSS3 NM_001197097 Chr9 33797930 33797930 + G C c.346G>C Exon (4/6) 53 1,001 5.29 p.Asp116His Substitution Non-synonymous

Hep3B PRSS3 NM_001197097 Chr9 33797931 33797931 + A G c.347A>G Exon (4/6) 106 983 10.78 p.Asp116Gly Substitution Non-synonymous

Hep3B PRSS3 NM_001197097 Chr9 33797932 33797932 + C G c.348C>G Exon (4/6) 89 972 9.16 p.Asp116Glu Substitution Non-synonymous

Hep3B PRSS3 NM_001197097 Chr9 33797951 33797951 + A C c.367A>C Exon (4/6) 289 1,028 28.11 p.Met123Leu Substitution Non-synonymous

Hep3B PRSS3 NM_001197097 Chr9 33797962 33797962 + A G c.378A>G Exon (4/6) 290 991 29.26 p.Lys126Lys Substitution Synonymous

Hep3B PRSS3 NM_001197097 Chr9 33797969 33797969 + T A c.385T>A Exon (4/6) 105 950 11.05 p.Ser129Thr Substitution Non-synonymous

Hep3B PRSS3 NM_001197097 Chr9 33797987 33797987 + G T c.403G>T Exon (4/6) 183 876 20.89 p.Ala135Ser Substitution Non-synonymous

Hep3B PRSS3 NM_001197097 Chr9 33797991 33797991 + G A c.407G>A Exon (4/6) 106 851 12.46 p.Arg136His Substitution Non-synonymous

Hep3B PRSS3 NM_001197097 Chr9 33797992 33797992 + C T c.408C>T Exon (4/6) 105 844 12.44 p.Arg136Arg Substitution Synonymous

Hep3B PRSS3 NM_001197097 Chr9 33797999 33797999 + A G c.415A>G Exon (4/6) 183 797 22.96 p.Thr139Ala Substitution Non-synonymous

Hep3B PRSS3 NM_001197097 Chr9 33798016 33798016 + C T c.432C>T Exon (4/6) 160 704 22.73 p.Thr144Thr Substitution Synonymous

Hep3B PRSS3 NM_001197097 Chr9 33798017 33798017 + A G c.433A>G Exon (4/6) 591 700 84.43 p.Thr145Ala Substitution Non-synonymous

Hep3B PRSS3 NM_001197097 Chr9 33798037 33798037 + T C c.453T>C Exon (4/6) 134 607 22.08 p.Thr151Thr Substitution Synonymous

Hep3B PRSS3 NM_001197097 Chr9 33798042 33798042 + G C c.458G>C Exon (4/6) 134 582 23.02 p.Cys153Ser Substitution Non-synonymous

Hep3B PRSS3 NM_001197097 Chr9 33798052 33798052 + C T c.468C>T Exon (4/6) 101 547 18.46 p.Ser156Ser Substitution Synonymous

Hep3B PRSS3 NM_001197097 Chr9 33798073 33798073 + C T c.489C>T Exon (4/6) 152 384 39.58 p.Ser163Ser Substitution Synonymous

Hep3B PRSS3 NM_001197097 Chr9 33798075 33798075 + T C c.491T>C Exon (4/6) 137 358 38.27 p.Phe164Ser Substitution Non-synonymous

Hep3B PRSS3 NM_001197097 Chr9 33798079 33798079 + T C c.495T>C Exon (4/6) 55 342 16.08 p.Gly165Gly Substitution Synonymous

MHCC97H PRSS3 NM_001197097 Chr9 33796660 33796660 + T C c.102T>C Exon (3/6) 186 481 38.67 p.Asp34Asp Substitution Synonymous

MHCC97H PRSS3 NM_001197097 Chr9 33796672 33796672 + T C c.114T>C Exon (3/6) 229 565 40.53 p.Ile38Ile Substitution Synonymous

MHCC97H PRSS3 NM_001197097 Chr9 33796673 33796673 + G A c.115G>A Exon (3/6) 237 580 40.86 p.Val39Ile Substitution Non-synonymous

MHCC97H PRSS3 NM_001197097 Chr9 33796734 33796734 + C A c.176C>A Exon (3/6) 64 1,027 6.23 p.Ser59Tyr Substitution Non-synonymous

MHCC97H PRSS3 NM_001197097 Chr9 33796777 33796777 + A G c.219A>G Exon (3/6) 73 889 8.21 p.Val73Val Substitution Synonymous

MHCC97H PRSS3 NM_001197097 Chr9 33796785 33796785 + C G c.227C>G Exon (3/6) 74 814 9.09 p.Ala76Gly Substitution Non-synonymous

MHCC97H PRSS3 NM_001197097 Chr9 33796799 33796799 + A T c.241A>T Exon (3/6) 314 694 45.24 p.Thr81Ser Substitution Non-synonymous

MHCC97H PRSS3 NM_001197097 Chr9 33797861 33797861 + A G c.277A>G Exon (4/6) 143 726 19.70 p.Lys93Glu Substitution Non-synonymous

MHCC97H PRSS3 NM_001197097 Chr9 33797881 33797881 + G A c.297G>A Exon (4/6) 188 910 20.66 p.Glu99Glu Substitution Synonymous

MHCC97H PRSS3 NM_001197097 Chr9 33797917 33797917 + T C c.333T>C Exon (4/6) 272 1,236 22.01 p.Pro111Pro Substitution Synonymous

MHCC97H PRSS3 NM_001197097 Chr9 33797928 33797928 + G GCC c.344G>GCC Exon (4/6) 232 1,266 18.33 – Insertion Frameshift

MHCC97H PRSS3 NM_001197097 Chr9 33797930 33797932 + GAC G c.346GAC>G Exon (4/6) 240 1,271 18.88 – Deletion Frameshift

MHCC97H PRSS3 NM_001197097 Chr9 33797951 33797951 + A C c.367A>C Exon (4/6) 296 1,292 22.91 p.Met123Leu Substitution Non-synonymous

MHCC97H PRSS3 NM_001197097 Chr9 33797962 33797962 + A G c.378A>G Exon (4/6) 290 1,212 23.93 p.Lys126Lys Substitution Synonymous

MHCC97H PRSS3 NM_001197097 Chr9 33797987 33797987 + G T c.403G>T Exon (4/6) 286 1,056 27.08 p.Ala135Ser Substitution Non-synonymous

MHCC97H PRSS3 NM_001197097 Chr9 33797999 33797999 + A G c.415A>G Exon (4/6) 266 955 27.85 p.Thr139Ala Substitution Non-synonymous

MHCC97H PRSS3 NM_001197097 Chr9 33798016 33798016 + C T c.432C>T Exon (4/6) 208 794 26.20 p.Thr144Thr Substitution Synonymous

MHCC97H PRSS3 NM_001197097 Chr9 33798017 33798017 + A G c.433A>G Exon (4/6) 768 772 99.48 p.Thr145Ala Substitution Non-synonymous

MHCC97H PRSS3 NM_001197097 Chr9 33798037 33798037 + T C c.453T>C Exon (4/6) 149 606 24.59 p.Thr151Thr Substitution Synonymous

MHCC97H PRSS3 NM_001197097 Chr9 33798042 33798042 + G C c.458G>C Exon (4/6) 134 567 23.63 p.Cys153Ser Substitution Non-synonymous

MHCC97H PRSS3 NM_001197097 Chr9 33798073 33798073 + C T c.489C>T Exon (4/6) 83 365 22.74 p.Ser163Ser Substitution Synonymous

MHCC97H PRSS3 NM_001197097 Chr9 33798075 33798075 + T C c.491T>C Exon (4/6) 81 356 22.75 p.Phe164Ser Substitution Non-synonymous

Hep2.2.15 PRSS3 NM_001197097 Chr9 33796660 33796660 + T C c.102T>C Exon (3/6) 127 301 42.19 p.Asp34Asp Substitution Synonymous

Hep2.2.15 PRSS3 NM_001197097 Chr9 33796672 33796672 + T C c.114T>C Exon (3/6) 149 334 44.61 p.Ile38Ile Substitution Synonymous

Hep2.2.15 PRSS3 NM_001197097 Chr9 33796673 33796673 + G A c.115G>A Exon (3/6) 152 348 43.68 p.Val39Ile Substitution Non-synonymous

Hep2.2.15 PRSS3 NM_001197097 Chr9 33796703 33796703 + C G c.145C>G Exon (3/6) 25 487 5.13 p.Leu49Val Substitution Non-synonymous

Hep2.2.15 PRSS3 NM_001197097 Chr9 33796721 33796721 + C T c.163C>T Exon (3/6) 46 582 7.90 p.Leu55Leu Substitution Synonymous

Hep2.2.15 PRSS3 NM_001197097 Chr9 33796734 33796734 + C A c.176C>A Exon (3/6) 78 621 12.56 p.Ser59Tyr Substitution Non-synonymous

Hep2.2.15 PRSS3 NM_001197097 Chr9 33796777 33796777 + A G c.219A>G Exon (3/6) 93 566 16.43 p.Val73Val Substitution Synonymous

Hep2.2.15 PRSS3 NM_001197097 Chr9 33796785 33796785 + C G c.227C>G Exon (3/6) 80 537 14.90 p.Ala76Gly Substitution Non-synonymous

Hep2.2.15 PRSS3 NM_001197097 Chr9 33796799 33796799 + A T c.241A>T Exon (3/6) 203 479 42.38 p.Thr81Ser Substitution Non-synonymous

Hep2.2.15 PRSS3 NM_001197097 Chr9 33797861 33797861 + A G c.277A>G Exon (4/6) 113 480 23.54 p.Lys93Glu Substitution Non-synonymous

Hep2.2.15 PRSS3 NM_001197097 Chr9 33797881 33797881 + G A c.297G>A Exon (4/6) 180 615 29.27 p.Glu99Glu Substitution Synonymous

Hep2.2.15 PRSS3 NM_001197097 Chr9 33797896 33797896 + G A c.312G>A Exon (4/6) 53 720 7.36 p.Ala104Ala Substitution Synonymous

Hep2.2.15 PRSS3 NM_001197097 Chr9 33797917 33797917 + T C c.333T>C Exon (4/6) 274 843 32.50 p.Pro111Pro Substitution Synonymous

Hep2.2.15 PRSS3 NM_001197097 Chr9 33797928 33797928 + G GCC c.344G>GCC Exon (4/6) 198 875 22.63 – Insertion Frameshift

Hep2.2.15 PRSS3 NM_001197097 Chr9 33797929 33797929 + G C c.345G>C Exon (4/6) 49 855 5.73 p.Arg115Ser Substitution Non-synonymous

Hep2.2.15 PRSS3 NM_001197097 Chr9 33797930 33797932 + GAC G c.346GAC>G Exon (4/6) 230 892 25.78 – Deletion Frameshift

Hep2.2.15 PRSS3 NM_001197097 Chr9 33797931 33797931 + A G c.347A>G Exon (4/6) 56 865 6.47 p.Asp116Gly Substitution Non-synonymous

Hep2.2.15 PRSS3 NM_001197097 Chr9 33797932 33797932 + C G c.348C>G Exon (4/6) 49 865 5.66 p.Asp116Glu Substitution Non-synonymous

Hep2.2.15 PRSS3 NM_001197097 Chr9 33797951 33797951 + A C c.367A>C Exon (4/6) 322 917 35.11 p.Met123Leu Substitution Non-synonymous

Hep2.2.15 PRSS3 NM_001197097 Chr9 33797962 33797962 + A G c.378A>G Exon (4/6) 318 887 35.85 p.Lys126Lys Substitution Synonymous

Hep2.2.15 PRSS3 NM_001197097 Chr9 33797969 33797969 + T A c.385T>A Exon (4/6) 44 876 5.02 p.Ser129Thr Substitution Non-synonymous

Hep2.2.15 PRSS3 NM_001197097 Chr9 33797987 33797987 + G T c.403G>T Exon (4/6) 275 817 33.66 p.Ala135Ser Substitution Non-synonymous

Hep2.2.15 PRSS3 NM_001197097 Chr9 33797991 33797991 + G A c.407G>A Exon (4/6) 49 786 6.23 p.Arg136His Substitution Non-synonymous

Hep2.2.15 PRSS3 NM_001197097 Chr9 33797992 33797992 + C T c.408C>T Exon (4/6) 48 778 6.17 p.Arg136Arg Substitution Synonymous

Hep2.2.15 PRSS3 NM_001197097 Chr9 33797999 33797999 + A G c.415A>G Exon (4/6) 258 741 34.82 p.Thr139Ala Substitution Non-synonymous

Hep2.2.15 PRSS3 NM_001197097 Chr9 33798016 33798016 + C T c.432C>T Exon (4/6) 216 648 33.33 p.Thr144Thr Substitution Synonymous

Hep2.2.15 PRSS3 NM_001197097 Chr9 33798017 33798017 + A G c.433A>G Exon (4/6) 589 638 92.32 p.Thr145Ala Substitution Non-synonymous

Hep2.2.15 PRSS3 NM_001197097 Chr9 33798037 33798037 + T C c.453T>C Exon (4/6) 176 561 31.37 p.Thr151Thr Substitution Synonymous

Hep2.2.15 PRSS3 NM_001197097 Chr9 33798042 33798042 + G C c.458G>C Exon (4/6) 170 534 31.84 p.Cys153Ser Substitution Non-synonymous

Hep2.2.15 PRSS3 NM_001197097 Chr9 33798052 33798052 + C T c.468C>T Exon (4/6) 46 496 9.27 p.Ser156Ser Substitution Synonymous

Hep2.2.15 PRSS3 NM_001197097 Chr9 33798073 33798073 + C T c.489C>T Exon (4/6) 135 363 37.19 p.Ser163Ser Substitution Synonymous

Hep2.2.15 PRSS3 NM_001197097 Chr9 33798075 33798075 + T C c.491T>C Exon (4/6) 126 349 36.10 p.Phe164Ser Substitution Non-synonymous

Hep2.2.15 PRSS3 NM_001197097 Chr9 33798079 33798079 + T C c.495T>C Exon (4/6) 24 333 7.21 p.Gly165Gly Substitution Synonymous

HepG2 PRSS3 NM_001197097 Chr9 33796660 33796660 + T C c.102T>C Exon (3/6) 114 294 38.78 p.Asp34Asp Substitution Synonymous

HepG2 PRSS3 NM_001197097 Chr9 33796672 33796672 + T C c.114T>C Exon (3/6) 119 322 36.96 p.Ile38Ile Substitution Synonymous

HepG2 PRSS3 NM_001197097 Chr9 33796673 33796673 + G A c.115G>A Exon (3/6) 125 338 36.98 p.Val39Ile Substitution Non-synonymous

HepG2 PRSS3 NM_001197097 Chr9 33796703 33796703 + C G c.145C>G Exon (3/6) 25 490 5.10 p.Leu49Val Substitution Non-synonymous

HepG2 PRSS3 NM_001197097 Chr9 33796721 33796721 + C T c.163C>T Exon (3/6) 34 557 6.10 p.Leu55Leu Substitution Synonymous

HepG2 PRSS3 NM_001197097 Chr9 33796734 33796734 + C A c.176C>A Exon (3/6) 62 594 10.44 p.Ser59Tyr Substitution Non-synonymous

HepG2 PRSS3 NM_001197097 Chr9 33796777 33796777 + A G c.219A>G Exon (3/6) 77 534 14.42 p.Val73Val Substitution Synonymous

HepG2 PRSS3 NM_001197097 Chr9 33796785 33796785 + C G c.227C>G Exon (3/6) 68 509 13.36 p.Ala76Gly Substitution Non-synonymous

HepG2 PRSS3 NM_001197097 Chr9 33796799 33796799 + A T c.241A>T Exon (3/6) 209 442 47.29 p.Thr81Ser Substitution Non-synonymous

HepG2 PRSS3 NM_001197097 Chr9 33797861 33797861 + A G c.277A>G Exon (4/6) 64 443 14.45 p.Lys93Glu Substitution Non-synonymous

HepG2 PRSS3 NM_001197097 Chr9 33797881 33797881 + G A c.297G>A Exon (4/6) 105 560 18.75 p.Glu99Glu Substitution Synonymous

HepG2 PRSS3 NM_001197097 Chr9 33797896 33797896 + G A c.312G>A Exon (4/6) 41 667 6.15 p.Ala104Ala Substitution Synonymous

HepG2 PRSS3 NM_001197097 Chr9 33797917 33797917 + T C c.333T>C Exon (4/6) 179 798 22.43 p.Pro111Pro Substitution Synonymous

HepG2 PRSS3 NM_001197097 Chr9 33797928 33797928 + G GCC c.344G>GCC Exon (4/6) 117 828 14.13 – Insertion Frameshift

HepG2 PRSS3 NM_001197097 Chr9 33797929 33797929 + G C c.345G>C Exon (4/6) 43 822 5.23 p.Arg115Ser Substitution Non-synonymous

HepG2 PRSS3 NM_001197097 Chr9 33797930 33797932 + GAC G c.346GAC>G Exon (4/6) 141 846 16.67 – Deletion Frameshift

HepG2 PRSS3 NM_001197097 Chr9 33797931 33797931 + A G c.347A>G Exon (4/6) 52 836 6.22 p.Asp116Gly Substitution Non-synonymous

HepG2 PRSS3 NM_001197097 Chr9 33797951 33797951 + A C c.367A>C Exon (4/6) 232 883 26.27 p.Met123Leu Substitution Non-synonymous

HepG2 PRSS3 NM_001197097 Chr9 33797962 33797962 + A G c.378A>G Exon (4/6) 235 860 27.33 p.Lys126Lys Substitution Synonymous

HepG2 PRSS3 NM_001197097 Chr9 33797969 33797969 + T A c.385T>A Exon (4/6) 52 833 6.24 p.Ser129Thr Substitution Non-synonymous

HepG2 PRSS3 NM_001197097 Chr9 33797987 33797987 + G T c.403G>T Exon (4/6) 186 763 24.38 p.Ala135Ser Substitution Non-synonymous

HepG2 PRSS3 NM_001197097 Chr9 33797991 33797991 + G A c.407G>A Exon (4/6) 53 754 7.03 p.Arg136His Substitution Non-synonymous

HepG2 PRSS3 NM_001197097 Chr9 33797992 33797992 + C T c.408C>T Exon (4/6) 54 749 7.21 p.Arg136Arg Substitution Synonymous

HepG2 PRSS3 NM_001197097 Chr9 33797999 33797999 + A G c.415A>G Exon (4/6) 174 712 24.44 p.Thr139Ala Substitution Non-synonymous

HepG2 PRSS3 NM_001197097 Chr9 33798016 33798016 + C T c.432C>T Exon (4/6) 152 620 24.52 p.Thr144Thr Substitution Synonymous

HepG2 PRSS3 NM_001197097 Chr9 33798017 33798017 + A G c.433A>G Exon (4/6) 551 604 91.23 p.Thr145Ala Substitution Non-synonymous

HepG2 PRSS3 NM_001197097 Chr9 33798037 33798037 + T C c.453T>C Exon (4/6) 118 530 22.26 p.Thr151Thr Substitution Synonymous

HepG2 PRSS3 NM_001197097 Chr9 33798042 33798042 + G C c.458G>C Exon (4/6) 111 503 22.07 p.Cys153Ser Substitution Non-synonymous

HepG2 PRSS3 NM_001197097 Chr9 33798052 33798052 + C T c.468C>T Exon (4/6) 51 457 11.16 p.Ser156Ser Substitution Synonymous

HepG2 PRSS3 NM_001197097 Chr9 33798073 33798073 + C T c.489C>T Exon (4/6) 99 314 31.53 p.Ser163Ser Substitution Synonymous

HepG2 PRSS3 NM_001197097 Chr9 33798075 33798075 + T C c.491T>C Exon (4/6) 95 303 31.35 p.Phe164Ser Substitution Non-synonymous

HepG2 PRSS3 NM_001197097 Chr9 33798079 33798079 + T C c.495T>C Exon (4/6) 33 292 11.30 p.Gly165Gly Substitution Synonymous

SK-HEP-1 PRSS3 NM_001197097 Chr9 33796660 33796660 + T C c.102T>C Exon (3/6) 89 221 40.27 p.Asp34Asp Substitution Synonymous

SK-HEP-1 PRSS3 NM_001197097 Chr9 33796672 33796672 + T C c.114T>C Exon (3/6) 103 238 43.28 p.Ile38Ile Substitution Synonymous

SK-HEP-1 PRSS3 NM_001197097 Chr9 33796673 33796673 + G A c.115G>A Exon (3/6) 108 246 43.90 p.Val39Ile Substitution Non-synonymous

SK-HEP-1 PRSS3 NM_001197097 Chr9 33796703 33796703 + C G c.145C>G Exon (3/6) 35 369 9.49 p.Leu49Val Substitution Non-synonymous

SK-HEP-1 PRSS3 NM_001197097 Chr9 33796721 33796721 + C T c.163C>T Exon (3/6) 47 435 10.80 p.Leu55Leu Substitution Synonymous

SK-HEP-1 PRSS3 NM_001197097 Chr9 33796734 33796734 + C A c.176C>A Exon (3/6) 74 456 16.23 p.Ser59Tyr Substitution Non-synonymous

SK-HEP-1 PRSS3 NM_001197097 Chr9 33796777 33796777 + A G c.219A>G Exon (3/6) 83 395 21.01 p.Val73Val Substitution Synonymous

SK-HEP-1 PRSS3 NM_001197097 Chr9 33796785 33796785 + C G c.227C>G Exon (3/6) 68 369 18.43 p.Ala76Gly Substitution Non-synonymous

SK-HEP-1 PRSS3 NM_001197097 Chr9 33796799 33796799 + A T c.241A>T Exon (3/6) 165 299 55.18 p.Thr81Ser Substitution Non-synonymous

SK-HEP-1 PRSS3 NM_001197097 Chr9 33797861 33797861 + A G c.277A>G Exon (4/6) 79 308 25.65 p.Lys93Glu Substitution Non-synonymous

SK-HEP-1 PRSS3 NM_001197097 Chr9 33797881 33797881 + G A c.297G>A Exon (4/6) 148 445 33.26 p.Glu99Glu Substitution Synonymous

SK-HEP-1 PRSS3 NM_001197097 Chr9 33797896 33797896 + G A c.312G>A Exon (4/6) 48 553 8.68 p.Ala104Ala Substitution Synonymous

SK-HEP-1 PRSS3 NM_001197097 Chr9 33797917 33797917 + T C c.333T>C Exon (4/6) 230 646 35.60 p.Pro111Pro Substitution Synonymous

SK-HEP-1 PRSS3 NM_001197097 Chr9 33797928 33797928 + G GCC c.344G>GCC Exon (4/6) 173 673 25.71 – Insertion Frameshift

SK-HEP-1 PRSS3 NM_001197097 Chr9 33797929 33797929 + G C c.345G>C Exon (4/6) 43 664 6.48 p.Arg115Ser Substitution Non-synonymous

SK-HEP-1 PRSS3 NM_001197097 Chr9 33797930 33797932 + GAC G c.346GAC>G Exon (4/6) 181 681 26.58 – Deletion Frameshift

SK-HEP-1 PRSS3 NM_001197097 Chr9 33797930 33797930 + G C c.346G>C Exon (4/6) 35 681 5.14 p.Asp116His Substitution Non-synonymous

SK-HEP-1 PRSS3 NM_001197097 Chr9 33797931 33797931 + A G c.347A>G Exon (4/6) 54 671 8.05 p.Asp116Gly Substitution Non-synonymous

SK-HEP-1 PRSS3 NM_001197097 Chr9 33797932 33797932 + C G c.348C>G Exon (4/6) 45 667 6.75 p.Asp116Glu Substitution Non-synonymous

SK-HEP-1 PRSS3 NM_001197097 Chr9 33797951 33797951 + A C c.367A>C Exon (4/6) 277 721 38.42 p.Met123Leu Substitution Non-synonymous

SK-HEP-1 PRSS3 NM_001197097 Chr9 33797962 33797962 + A G c.378A>G Exon (4/6) 282 703 40.11 p.Lys126Lys Substitution Synonymous

SK-HEP-1 PRSS3 NM_001197097 Chr9 33797969 33797969 + T A c.385T>A Exon (4/6) 44 691 6.37 p.Ser129Thr Substitution Non-synonymous

SK-HEP-1 PRSS3 NM_001197097 Chr9 33797987 33797987 + G T c.403G>T Exon (4/6) 235 656 35.82 p.Ala135Ser Substitution Non-synonymous

SK-HEP-1 PRSS3 NM_001197097 Chr9 33797991 33797991 + G A c.407G>A Exon (4/6) 44 630 6.98 p.Arg136His Substitution Non-synonymous

SK-HEP-1 PRSS3 NM_001197097 Chr9 33797992 33797992 + C T c.408C>T Exon (4/6) 44 635 6.93 p.Arg136Arg Substitution Synonymous

SK-HEP-1 PRSS3 NM_001197097 Chr9 33797999 33797999 + A G c.415A>G Exon (4/6) 214 595 35.97 p.Thr139Ala Substitution Non-synonymous

SK-HEP-1 PRSS3 NM_001197097 Chr9 33798016 33798016 + C T c.432C>T Exon (4/6) 187 501 37.33 p.Thr144Thr Substitution Synonymous

SK-HEP-1 PRSS3 NM_001197097 Chr9 33798017 33798017 + A G c.433A>G Exon (4/6) 444 493 90.06 p.Thr145Ala Substitution Non-synonymous

SK-HEP-1 PRSS3 NM_001197097 Chr9 33798037 33798037 + T C c.453T>C Exon (4/6) 134 385 34.81 p.Thr151Thr Substitution Synonymous

SK-HEP-1 PRSS3 NM_001197097 Chr9 33798042 33798042 + G C c.458G>C Exon (4/6) 124 369 33.60 p.Cys153Ser Substitution Non-synonymous

SK-HEP-1 PRSS3 NM_001197097 Chr9 33798052 33798052 + C T c.468C>T Exon (4/6) 43 348 12.36 p.Ser156Ser Substitution Synonymous

SK-HEP-1 PRSS3 NM_001197097 Chr9 33798073 33798073 + C T c.489C>T Exon (4/6) 102 233 43.78 p.Ser163Ser Substitution Synonymous

SK-HEP-1 PRSS3 NM_001197097 Chr9 33798075 33798075 + T C c.491T>C Exon (4/6) 98 224 43.75 p.Phe164Ser Substitution Non-synonymous

SK-HEP-1 PRSS3 NM_001197097 Chr9 33798079 33798079 + T C c.495T>C Exon (4/6) 19 215 8.84 p.Gly165Gly Substitution Synonymous

HuH-7 PTEN NM_001304717 Chr10 89624218 89624218 + C G c.511C>G Exon (2/10) 1,043 1,067 97.75 p.Leu171Val Substitution Non-synonymous

Hep3B PTPRB NM_002837 Chr12 70980848 70980848 – C T c.1596C>T Exon (7/32) 220 853 25.79 p.Met532Ile Substitution Non-synonymous

Hep3B RB1 NM_000321 Chr13 48955383 48955383 + G A c.1499G>A Exon (17/27) 65 344 18.90 p.Arg500Lys Substitution Non-synonymous

Hep3B RB1 NM_000321 Chr13 49027160 49027160 + C G c.1727C>G Exon (18/27) 331 407 81.33 p.Ser576* Substitution Stop-codon-gain

HuH-7 RET NM_020630 Chr10 43606844 43606844 + G T c.1453G>T Exon (7/19) 381 1,262 30.19 p.Val485Leu Substitution Non-synonymous

Hep2.2.15 RET NM_020630 Chr10 43608351 43608351 + G A c.1699G>A Exon (9/19) 410 741 55.33 p.Asp567Asn Substitution Non-synonymous

HepG2 RET NM_020630 Chr10 43608351 43608351 + G A c.1699G>A Exon (9/19) 378 820 46.10 p.Asp567Asn Substitution Non-synonymous

MHCC97L RFX3 NM_002919 Chr9 3277362 3277362 – G A c.951G>A Exon (7/14) 24 405 5.93 p.Ser317Ser Substitution Synonymous

MHCC97L RFX3 NM_002919 Chr9 3277407 3277407 – A G c.906A>G Exon (7/14) 37 516 7.17 p.Gly302Gly Substitution Synonymous

MHCC97L RNF6 NM_005977 Chr13 26789140 26789140 – A G c.879A>G Exon (5/5) 25 425 5.88 p.Asn293Asn Substitution Synonymous

MHCC97L RNF6 NM_005977 Chr13 26789181 26789181 – C T c.838C>T Exon (5/5) 30 579 5.18 p.Val280Ile Substitution Non-synonymous

HuH-7 ROCK1 NM_005406 Chr18 18547762 18547766 – AATTT A c.3143AATTT>A Exon (26/33) 170 1,855 9.16 – Deletion Frameshift

HuH-7 ROCK1 NM_005406 Chr18 18547767 18547767 – C G c.3138C>G Exon (26/33) 175 1,921 9.11 p.Glu1046Asp Substitution Non-synonymous

HuH-7 ROCK1 NM_005406 Chr18 18534948 18534948 – G C c.3649G>C Exon (31/33) 360 2,644 13.62 p.Gln1217Glu Substitution Non-synonymous

MHCC97L ROCK1 NM_005406 Chr18 18534948 18534948 – G C c.3649G>C Exon (31/33) 203 1,636 12.41 p.Gln1217Glu Substitution Non-synonymous

Hep3B ROCK1 NM_005406 Chr18 18547893 18547893 – G T c.3012G>T Exon (26/33) 19 328 5.79 p.Asn1004Lys Substitution Non-synonymous

Hep3B ROCK1 NM_005406 Chr18 18534948 18534948 – G C c.3649G>C Exon (31/33) 124 731 16.96 p.Gln1217Glu Substitution Non-synonymous

MHCC97H ROCK1 NM_005406 Chr18 18534948 18534948 – G C c.3649G>C Exon (31/33) 96 877 10.95 p.Gln1217Glu Substitution Non-synonymous

HuH-7 ROS1 NM_002944 Chr6 117683822 117683822 – A C c.3325A>C Exon (21/43) 365 2,228 16.38 p.Ser1109Ala Substitution Non-synonymous

MHCC97L ROS1 NM_002944 Chr6 117715380 117715380 – G T c.1109G>T Exon (10/43) 511 1,083 47.18 p.Ser370Tyr Substitution Non-synonymous

MHCC97L ROS1 NM_002944 Chr6 117662682 117662682 – A G c.4783A>G Exon (29/43) 296 551 53.72 p.Leu1595Leu Substitution Synonymous

Hep3B ROS1 NM_002944 Chr6 117665231 117665231 – T C c.4516T>C Exon (27/43) 570 931 61.22 p.Arg1506Gly Substitution Non-synonymous

MHCC97H ROS1 NM_002944 Chr6 117715380 117715380 – G T c.1109G>T Exon (10/43) 329 647 50.85 p.Ser370Tyr Substitution Non-synonymous

MHCC97H ROS1 NM_002944 Chr6 117662682 117662682 – A G c.4783A>G Exon (29/43) 155 318 48.74 p.Leu1595Leu Substitution Synonymous

MHCC97L RYR2 NM_001035 Chr1 237774133 237774133 + C T c.4755C>T Exon (36/105) 558 1,672 33.37 p.Arg1585Arg Substitution Synonymous

Hep3B RYR2 NM_001035 Chr1 237608748 237608748 + G A c.1218G>A Exon (14/105) 1,053 1,428 73.74 p.Ser406Ser Substitution Synonymous

Hep3B RYR2 NM_001035 Chr1 237949311 237949311 + A G c.13303A>G Exon (91/105) 381 1,461 26.08 p.Thr4435Ala Substitution Non-synonymous

Hep3B RYR2 NM_001035 Chr1 237872347 237872347 + G A c.10091G>A Exon (69/105) 79 1,414 5.59 p.Arg3364Lys Substitution Non-synonymous

MHCC97H RYR2 NM_001035 Chr1 237774133 237774133 + C T c.4755C>T Exon (36/105) 330 1,012 32.61 p.Arg1585Arg Substitution Synonymous

Hep2.2.15 RYR2 NM_001035 Chr1 237660048 237660048 + G C c.2199G>C Exon (20/105) 474 995 47.64 p.Trp733Cys Substitution Non-synonymous

HepG2 RYR2 NM_001035 Chr1 237798195 237798195 + C T c.6695C>T Exon (44/105) 67 527 12.71 p.Pro2232Leu Substitution Non-synonymous

HepG2 RYR2 NM_001035 Chr1 237660048 237660048 + G C c.2199G>C Exon (20/105) 398 790 50.38 p.Trp733Cys Substitution Non-synonymous

SK-HEP-1 RYR2 NM_001035 Chr1 237875068 237875068 + C T c.10254C>T Exon (71/105) 278 973 28.57 p.Asn3418Asn Substitution Synonymous

Hep3B SETD1B NM_015048 Chr12 122260805 122260805 + C T c.4191C>T Exon (12/17) 460 462 99.57 p.Ser1397Ser Substitution Synonymous

Hep3B SHISA2 NM_001007538 Chr13 26620978 26620978 – G T c.561G>T Exon (2/2) 304 576 52.78 p.Ser187Ser Substitution Synonymous

Hep3B SLC9A9 NM_173653 Chr3 143297490 143297490 – A G c.831A>G Exon (7/16) 220 685 32.12 p.Asn277Asn Substitution Synonymous

MHCC97L SMPD1 NM_000543 Chr11 6411935 6411941 + TGCTGGC T c.107TGCTGGC>T Exon (1/6) 65 192 33.85 – Deletion Inframe

Hep3B SMPD1 NM_000543 Chr11 6411935 6411941 + TGCTGGC T c.107TGCTGGC>T Exon (1/6) 180 196 91.84 – Deletion Inframe

Hep3B SMPD1 NM_000543 Chr11 6411941 6411941 + C T c.113C>T Exon (1/6) 28 228 12.28 p.Ala38Val Substitution Non-synonymous

MHCC97H SMPD1 NM_000543 Chr11 6411935 6411941 + TGCTGGC T c.107TGCTGGC>T Exon (1/6) 45 128 35.16 – Deletion Inframe

HuH-7 SOX9 NM_000346 Chr17 70119713 70119713 + A C c.715A>C Exon (3/3) 58 1,047 5.54 p.Thr239Pro Substitution Non-synonymous

HuH-7 SOX9 NM_000346 Chr17 70119722 70119722 + A C c.724A>C Exon (3/3) 69 1,051 6.57 p.Lys242Gln Substitution Non-synonymous

MHCC97H SOX9 NM_000346 Chr17 70119713 70119713 + A C c.715A>C Exon (3/3) 41 802 5.11 p.Thr239Pro Substitution Non-synonymous

Hep2.2.15 SOX9 NM_000346 Chr17 70119713 70119713 + A C c.715A>C Exon (3/3) 47 883 5.32 p.Thr239Pro Substitution Non-synonymous

HepG2 SOX9 NM_000346 Chr17 70119713 70119713 + A C c.715A>C Exon (3/3) 56 988 5.67 p.Thr239Pro Substitution Non-synonymous

HepG2 SOX9 NM_000346 Chr17 70119722 70119722 + A C c.724A>C Exon (3/3) 61 1,022 5.97 p.Lys242Gln Substitution Non-synonymous

HepG2 SPAG17 NM_206996 Chr1 118535223 118535223 – A G c.5227A>G Exon (36/49) 55 769 7.15 p.Cys1743Arg Substitution Non-synonymous

Hep3B STK11 NM_000455 Chr19 1221293 1221293 + C T c.816C>T Exon (6/10) 377 1,573 23.97 p.Tyr272Tyr Substitution Synonymous

HuH-7 SYNE1 NM_182961 Chr6 152711587 152711587 – C G c.8005C>G Exon (53/146) 114 2,121 5.37 p.Asp2669His Substitution Non-synonymous

HuH-7 SYNE1 NM_182961 Chr6 152757143 152757143 – G T c.4243G>T Exon (33/146) 304 2,085 14.58 p.Leu1415Met Substitution Non-synonymous

Hep3B SYNE1 NM_182961 Chr6 152560746 152560746 – A G c.19989A>G Exon (108/146) 319 1,011 31.55 p.His6663His Substitution Synonymous

Hep2.2.15 SYNE1 NM_182961 Chr6 152646219 152646219 – C T c.15657C>T Exon (81/146) 188 361 52.08 p.Lys5219Lys Substitution Synonymous

HepG2 SYNE1 NM_182961 Chr6 152748907 152748907 – C A c.5021C>A Exon (38/146) 405 1,210 33.47 p.Gly1674Val Substitution Non-synonymous

HepG2 SYNE1 NM_182961 Chr6 152646219 152646219 – C T c.15657C>T Exon (81/146) 117 363 32.23 p.Lys5219Lys Substitution Synonymous

HuH-7 SYNE2 NM_015180 Chr14 64630194 64630194 + A T c.16374A>T Exon (89/115) 538 550 97.82 p.Gln5458His Substitution Non-synonymous

MHCC97L TAF9 NM_003187 Chr5 68661325 68661325 – A G c.240A>G Exon (3/3) 34 668 5.09 p.Asp80Asp Substitution Synonymous

MHCC97L TAF9 NM_003187 Chr5 68661331 68661331 – G A c.234G>A Exon (3/3) 42 713 5.89 p.Arg78Arg Substitution Synonymous

MHCC97L TAF9 NM_003187 Chr5 68661348 68661348 – A G c.217A>G Exon (3/3) 39 780 5.00 p.Leu73Leu Substitution Synonymous

MHCC97L TAF9 NM_003187 Chr5 68661352 68661352 – C T c.213C>T Exon (3/3) 42 788 5.33 p.Val71Val Substitution Synonymous

MHCC97L TAF9 NM_003187 Chr5 68661355 68661355 – A G c.210A>G Exon (3/3) 44 802 5.49 p.Asp70Asp Substitution Synonymous

MHCC97L TAF9 NM_003187 Chr5 68661391 68661391 – T G c.174T>G Exon (3/3) 57 858 6.64 p.Ser58Ser Substitution Synonymous

MHCC97L TAF9 NM_003187 Chr5 68661403 68661403 – T A c.162T>A Exon (3/3) 72 898 8.02 p.Ala54Ala Substitution Synonymous

MHCC97L TAF9 NM_003187 Chr5 68661447 68661447 – A G c.118A>G Exon (3/3) 74 898 8.24 p.Leu40Leu Substitution Synonymous

MHCC97L TAF9 NM_003187 Chr5 68661544 68661544 – A C c.21A>C Exon (3/3) 38 728 5.22 p.Ala7Ala Substitution Synonymous

Hep3B TBC1D8B NM_198881 Chrx 106083304 106083304 + A G c.1380A>G Exon (9/12) 319 320 99.69 p.Ser460Ser Substitution Synonymous

MHCC97L TERT NM_001193376 Chr5 1293951 1293951 – C G c.1050C>G Exon (2/15) 110 438 25.11 p.Leu350Leu Substitution Synonymous

MHCC97L TERT NM_001193376 Chr5 1294020 1294020 – C G c.981C>G Exon (2/15) 99 429 23.08 p.Glu327Asp Substitution Non-synonymous

MHCC97H TERT NM_001193376 Chr5 1293951 1293951 – C G c.1050C>G Exon (2/15) 58 182 31.87 p.Leu350Leu Substitution Synonymous

MHCC97H TERT NM_001193376 Chr5 1294020 1294020 – C G c.981C>G Exon (2/15) 62 176 35.23 p.Glu327Asp Substitution Non-synonymous

HuH-7 TP53 NM_001126118 Chr17 7578190 7578190 – T C c.542T>C Exon (5/10) 2,018 2,051 98.39 p.Tyr181Cys Substitution Non-synonymous

MHCC97L TP53 NM_001126118 Chr17 7577534 7577534 – C A c.630C>A Exon (6/10) 509 1,461 34.84 p.Arg210Ser Substitution Non-synonymous

MHCC97L TP53 NM_001126118 Chr17 7579536 7579536 – C A c.34C>A Exon (3/10) 1,041 1,697 61.34 p.Glu12* Substitution Stop-codon-gain

MHCC97H TP53 NM_001126118 Chr17 7577534 7577534 – C A c.630C>A Exon (6/10) 311 947 32.84 p.Arg210Ser Substitution Non-synonymous

MHCC97H TP53 NM_001126118 Chr17 7579536 7579536 – C A c.34C>A Exon (3/10) 700 1,070 65.42 p.Glu12* Substitution Stop-codon-gain

HepG2 TP53 NM_001126118 Chr17 7577538 7577538 – C T c.626C>T Exon (6/10) 333 707 47.10 p.Arg209Gln Substitution Non-synonymous

HuH-7 ZFHX4 NM_024721 Chr8 77762591 77762591 + A G c.3957A>G Exon (9/11) 1,076 1,116 96.42 p.Lys1319Lys Substitution Synonymous

HuH-7 ZFHX4 NM_024721 Chr8 77763286 77763286 + C A c.4129C>A Exon (10/11) 484 2,018 23.98 p.Gln1377Lys Substitution Non-synonymous

HuH-7 ZFHX4 NM_024721 Chr8 77765289 77765289 + A C c.6132A>C Exon (10/11) 37 707 5.23 p.Pro2044Pro Substitution Synonymous

HuH-7 ZFHX4 NM_024721 Chr8 77617704 77617704 + C T c.1381C>T Exon (2/11) 492 1,949 25.24 p.Pro461Ser Substitution Non-synonymous

MHCC97L ZFHX4 NM_024721 Chr8 77765298 77765301 + ACCT A c.6141ACCT>A Exon (10/11) 192 1,032 18.60 – Deletion Inframe

MHCC97L ZFHX4 NM_024721 Chr8 77765950 77765950 + C T c.6793C>T Exon (10/11) 1,674 2,981 56.16 p.Leu2265Leu Substitution Synonymous

MHCC97L ZFHX4 NM_024721 Chr8 77767929 77767929 + T C c.8772T>C Exon (10/11) 1,665 2,718 61.26 p.Asn2924Asn Substitution Synonymous

MHCC97L ZFHX4 NM_024721 Chr8 77768512 77768512 + C A c.9355C>A Exon (10/11) 1,531 2,638 58.04 p.Pro3119Thr Substitution Non-synonymous

Hep3B ZFHX4 NM_024721 Chr8 77765289 77765289 + A C c.6132A>C Exon (10/11) 20 377 5.31 p.Pro2044Pro Substitution Synonymous

Hep3B ZFHX4 NM_024721 Chr8 77765298 77765301 + ACCT A c.6141ACCT>A Exon (10/11) 123 364 33.79 – Deletion Inframe

Hep3B ZFHX4 NM_024721 Chr8 77765301 77765301 + T A c.6144T>A Exon (10/11) 28 427 6.56 p.Pro2048Pro Substitution Synonymous

MHCC97H ZFHX4 NM_024721 Chr8 77765298 77765301 + ACCT A c.6141ACCT>A Exon (10/11) 90 655 13.74 – Deletion Inframe

MHCC97H ZFHX4 NM_024721 Chr8 77765950 77765950 + C T c.6793C>T Exon (10/11) 1,290 1,920 67.19 p.Leu2265Leu Substitution Synonymous

MHCC97H ZFHX4 NM_024721 Chr8 77767929 77767929 + T C c.8772T>C Exon (10/11) 1,258 1,871 67.24 p.Asn2924Asn Substitution Synonymous

MHCC97H ZFHX4 NM_024721 Chr8 77768512 77768512 + C A c.9355C>A Exon (10/11) 1,142 1,707 66.90 p.Pro3119Thr Substitution Non-synonymous

Hep2.2.15 ZFHX4 NM_024721 Chr8 77765278 77765278 + A C c.6121A>C Exon (10/11) 17 331 5.14 p.Thr2041Pro Substitution Non-synonymous

HepG2 ZFHX4 NM_024721 Chr8 77765278 77765278 + A C c.6121A>C Exon (10/11) 19 328 5.79 p.Thr2041Pro Substitution Non-synonymous

HepG2 ZFHX4 NM_024721 Chr8 77765283 77765283 + T C c.6126T>C Exon (10/11) 19 311 6.11 p.Pro2042Pro Substitution Synonymous

HepG2 ZFHX4 NM_024721 Chr8 77765289 77765289 + A C c.6132A>C Exon (10/11) 19 278 6.83 p.Pro2044Pro Substitution Synonymous

SK-HEP-1 ZFHX4 NM_024721 Chr8 77765289 77765289 + A C c.6132A>C Exon (10/11) 18 360 5.00 p.Pro2044Pro Substitution Synonymous

SK-HEP-1 ZFHX4 NM_024721 Chr8 77765298 77765301 + ACCT A c.6141ACCT>A Exon (10/11) 53 328 16.16 – Deletion Inframe

SK-HEP-1 ZFHX4 NM_024721 Chr8 77765301 77765301 + T A c.6144T>A Exon (10/11) 20 376 5.32 p.Pro2048Pro Substitution Synonymous

SK-HEP-1 ZSCAN20 NM_145238 Chr1 33955193 33955193 + G A c.757G>A Exon (5/8) 335 492 68.09 p.Val253Met Substitution Non-synonymous