Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error AP4B1 10717 genome.wustl.edu 36 1 114244294 114244294 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b52e5d90-dc57-438c-9c38-e043308c24ac eee56151-3098-455a-b8d0-bd4cc912ab3a 1 114244294 114244294 C T SNP AP4B1 NM_006594 human genbank 54_36p -1 validated missense c.869 p.R290H 0.98 NULL - - no_errors TCHH 7062 genome.wustl.edu 36 1 150348232 150348232 + Missense_Mutation SNP A A T Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 A A A T A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b52e5d90-dc57-438c-9c38-e043308c24ac eee56151-3098-455a-b8d0-bd4cc912ab3a 1 150348232 150348232 A T SNP TCHH NM_007113 human genbank 54_36p -1 provisional missense c.4085 p.F1362Y 0.001 NULL - - no_errors LELP1 149018 genome.wustl.edu 36 1 151444086 151444086 + Silent SNP C C T novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b52e5d90-dc57-438c-9c38-e043308c24ac eee56151-3098-455a-b8d0-bd4cc912ab3a 1 151444086 151444086 C T SNP LELP1 NM_001010857 human genbank 54_36p 1 provisional silent c.279 p.P93 0.95 NULL - - no_errors IL6R 3570 genome.wustl.edu 36 1 152673740 152673740 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b52e5d90-dc57-438c-9c38-e043308c24ac eee56151-3098-455a-b8d0-bd4cc912ab3a 1 152673740 152673740 G A SNP IL6R NM_000565 human genbank 54_36p 1 reviewed missense c.580 p.V194I 0.05 NULL - - no_errors EPHB2 2048 genome.wustl.edu 36 1 23064266 23064266 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b52e5d90-dc57-438c-9c38-e043308c24ac eee56151-3098-455a-b8d0-bd4cc912ab3a 1 23064266 23064266 C G SNP EPHB2 NM_004442 human genbank 54_36p 1 reviewed missense c.1277 p.S426C 1 NULL - - no_errors ERCC6 2074 genome.wustl.edu 36 10 50378606 50378606 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b52e5d90-dc57-438c-9c38-e043308c24ac eee56151-3098-455a-b8d0-bd4cc912ab3a 10 50378606 50378606 G C SNP ERCC6 NM_000124 human genbank 54_36p -1 reviewed missense c.1669 p.R557G 1 HMMPfam_SNF2_N "HMMPfam_SNF2_N;HMMPfam_Helicase_C;superfamily_""Winged helix"" DNA-binding domain;superfamily_P-loop containing nucleoside triphosphate hydrolases" - no_errors TTC18 118491 genome.wustl.edu 36 10 74783467 74783467 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b52e5d90-dc57-438c-9c38-e043308c24ac eee56151-3098-455a-b8d0-bd4cc912ab3a 10 74783467 74783467 C A SNP TTC18 NM_145170 human genbank 54_36p -1 provisional missense c.103 p.A35S 1 NULL - - no_errors OR10G7 390265 genome.wustl.edu 36 11 123414444 123414444 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b52e5d90-dc57-438c-9c38-e043308c24ac eee56151-3098-455a-b8d0-bd4cc912ab3a 11 123414444 123414444 T C SNP OR10G7 NM_001004463 human genbank 54_36p -1 provisional missense c.475 p.T159A 0.07 NULL - - no_errors FRY 10129 genome.wustl.edu 36 13 31733643 31733643 + Silent SNP A A G novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b52e5d90-dc57-438c-9c38-e043308c24ac eee56151-3098-455a-b8d0-bd4cc912ab3a 13 31733643 31733643 A G SNP FRY ENST00000380257 human ensembl 54_36p 1 known silent c.7422 p.L2474 NULL - - no_errors PAPLN 89932 genome.wustl.edu 36 14 72787459 72787459 + Missense_Mutation SNP C C A novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b52e5d90-dc57-438c-9c38-e043308c24ac eee56151-3098-455a-b8d0-bd4cc912ab3a 14 72787459 72787459 C A SNP PAPLN NM_173462 human genbank 54_36p 1 validated missense c.557 p.A186E 0.89 HMMPfam_ADAM_spacer1 HMMPfam_TSP_1;HMMPfam_Kunitz_BPTI;superfamily_BPTI-like;HMMPfam_ADAM_spacer1;HMMPfam_PLAC;HMMPfam_I-set;HMMPfam_ig;superfamily_Immunoglobulin;superfamily_TSP-1 type 1 repeat - no_errors AP3B2 8120 genome.wustl.edu 36 15 81128641 81128641 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b52e5d90-dc57-438c-9c38-e043308c24ac eee56151-3098-455a-b8d0-bd4cc912ab3a 15 81128641 81128641 C T SNP AP3B2 ENST00000261722 human ensembl 54_36p -1 known missense c.2633 p.R878H 1 NULL HMMPfam_Adaptin_N;superfamily_Clathrin adaptor appendage domain;superfamily_ARM repeat - no_errors SERPINF1 5176 genome.wustl.edu 36 17 1621076 1621076 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b52e5d90-dc57-438c-9c38-e043308c24ac eee56151-3098-455a-b8d0-bd4cc912ab3a 17 1621076 1621076 C T SNP SERPINF1 NM_002615 human genbank 54_36p 1 validated missense c.287 p.A96V 1 HMMPfam_Serpin HMMPfam_Serpin;superfamily_Serpins - no_errors TP53 7157 genome.wustl.edu 36 17 7519113 7519113 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b52e5d90-dc57-438c-9c38-e043308c24ac eee56151-3098-455a-b8d0-bd4cc912ab3a 17 7519113 7519113 C G SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.542 p.R181P 0.97 HMMPfam_P53 superfamily_p53-like transcription factors;superfamily_p53 tetramerization domain;P53_tetramer;HMMPfam_P53_tetramer;P53;HMMPfam_P53;P53_TAD;HMMPfam_P53_TAD - no_errors PSTPIP2 9050 genome.wustl.edu 36 18 41832788 41832788 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b52e5d90-dc57-438c-9c38-e043308c24ac eee56151-3098-455a-b8d0-bd4cc912ab3a 18 41832788 41832788 C T SNP PSTPIP2 NM_024430 human genbank 54_36p -1 validated missense c.532 p.A178T 1 NULL - - no_errors LOC727865 727865 genome.wustl.edu 36 19 35139406 35139406 + RNA SNP A A T novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b52e5d90-dc57-438c-9c38-e043308c24ac eee56151-3098-455a-b8d0-bd4cc912ab3a 19 35139406 35139406 A T SNP LOC727865 XR_015160 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene RELB 5971 genome.wustl.edu 36 19 50229366 50229366 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b52e5d90-dc57-438c-9c38-e043308c24ac eee56151-3098-455a-b8d0-bd4cc912ab3a 19 50229366 50229366 G A SNP RELB NM_006509 human genbank 54_36p 1 validated missense c.1232 p.R411Q 1 NULL HMMPfam_TIG;superfamily_p53-like transcription factors;HMMPfam_RHD;superfamily_E set domains - no_errors RSPH6A 81492 genome.wustl.edu 36 19 50995594 50995594 + Silent SNP G G C novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b52e5d90-dc57-438c-9c38-e043308c24ac eee56151-3098-455a-b8d0-bd4cc912ab3a 19 50995594 50995594 G C SNP RSHL1 NM_030785 human genbank 54_36p -1 reviewed silent c.1866 p.A622 0.14 NULL - - no_errors TTN 7273 genome.wustl.edu 36 2 179145912 179145912 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b52e5d90-dc57-438c-9c38-e043308c24ac eee56151-3098-455a-b8d0-bd4cc912ab3a 2 179145912 179145912 C T SNP TTN NM_133378 human genbank 54_36p -1 reviewed missense c.65488 p.A21830T 1 NULL - - pseudogene:no_stop_codon:bad_bp_length_for_coding_region TTN 7273 genome.wustl.edu 36 2 179185371 179185371 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b52e5d90-dc57-438c-9c38-e043308c24ac eee56151-3098-455a-b8d0-bd4cc912ab3a 2 179185371 179185371 T C SNP TTN NM_133378 human genbank 54_36p -1 reviewed missense c.42422 p.K14141R 1 NULL - - pseudogene:no_stop_codon:bad_bp_length_for_coding_region NCL 4691 genome.wustl.edu 36 2 232028561 232028561 + Silent SNP G G A novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx b52e5d90-dc57-438c-9c38-e043308c24ac eee56151-3098-455a-b8d0-bd4cc912ab3a 2 232028561 232028561 G A SNP NCL NM_005381 human genbank 54_36p -1 reviewed silent c.1851 p.F617 1 HMMPfam_RRM_1 HMMPfam_RRM_1;superfamily_RNA-binding domain RBD - no_errors UGT1A9 54600 genome.wustl.edu 36 2 234246084 234246084 + Silent SNP G G A novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b52e5d90-dc57-438c-9c38-e043308c24ac eee56151-3098-455a-b8d0-bd4cc912ab3a 2 234246084 234246084 G A SNP UGT1A9 NM_021027 human genbank 54_36p 1 reviewed silent c.765 p.T255 0.01 NULL - - no_errors B3GNT2 10678 genome.wustl.edu 36 2 62303370 62303370 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b52e5d90-dc57-438c-9c38-e043308c24ac eee56151-3098-455a-b8d0-bd4cc912ab3a 2 62303370 62303370 G A SNP B3GNT2 NM_006577 human genbank 54_36p 1 reviewed missense c.511 p.A171T HMMPfam_Galactosyl_T HMMPfam_Galactosyl_T - no_errors HPS3 84343 genome.wustl.edu 36 3 150360541 150360541 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b52e5d90-dc57-438c-9c38-e043308c24ac eee56151-3098-455a-b8d0-bd4cc912ab3a 3 150360541 150360541 G T SNP HPS3 NM_032383 human genbank 54_36p 1 reviewed missense c.1891 p.V631F 0.05 NULL - - no_errors MAP3K13 9175 genome.wustl.edu 36 3 186667364 186667364 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b52e5d90-dc57-438c-9c38-e043308c24ac eee56151-3098-455a-b8d0-bd4cc912ab3a 3 186667364 186667364 G A SNP MAP3K13 NM_004721 human genbank 54_36p 1 reviewed missense c.1562 p.R521H 1 NULL HMMPfam_Pkinase;superfamily_Protein kinase-like (PK-like) - no_errors FLJ43944 400593 genome.wustl.edu 36 17 31258402 31258402 + RNA SNP G G C novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b52e5d90-dc57-438c-9c38-e043308c24ac eee56151-3098-455a-b8d0-bd4cc912ab3a 17 31258402 31258402 G C SNP FLJ43944 XR_042037 human genbank 54_36p -1 model rna NULL NULL 0.03 - - - no_errors CENPE 1062 genome.wustl.edu 36 4 104274451 104274451 + Silent SNP G G A novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b52e5d90-dc57-438c-9c38-e043308c24ac eee56151-3098-455a-b8d0-bd4cc912ab3a 4 104274451 104274451 G A SNP CENPE NM_001813 human genbank 54_36p -1 validated silent c.6570 p.S2190 0.93 NULL HMMPfam_Kinesin;superfamily_Domain of the SRP/SRP receptor G-proteins;superfamily_STAT;superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors GPRC6A 222545 genome.wustl.edu 36 6 117220057 117220057 + Silent SNP T T G novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b52e5d90-dc57-438c-9c38-e043308c24ac eee56151-3098-455a-b8d0-bd4cc912ab3a 6 117220057 117220057 T G SNP GPRC6A NM_148963 human genbank 54_36p -1 validated silent c.2722 p.R908 NULL - - no_errors PMPCB 9512 genome.wustl.edu 36 7 102735326 102735326 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b52e5d90-dc57-438c-9c38-e043308c24ac eee56151-3098-455a-b8d0-bd4cc912ab3a 7 102735326 102735326 G C SNP PMPCB NM_004279 human genbank 54_36p 1 reviewed missense c.784 p.D262H 0.99 NULL - - no_errors LOC442727 442727 genome.wustl.edu 36 7 137739747 137739747 + RNA SNP T T C novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b52e5d90-dc57-438c-9c38-e043308c24ac eee56151-3098-455a-b8d0-bd4cc912ab3a 7 137739747 137739747 T C SNP LOC442727 XR_017503 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene TPK1 27010 genome.wustl.edu 36 7 143919487 143919487 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b52e5d90-dc57-438c-9c38-e043308c24ac eee56151-3098-455a-b8d0-bd4cc912ab3a 7 143919487 143919487 T C SNP TPK1 NM_022445 human genbank 54_36p -1 reviewed missense c.463 p.I155V 0.99 HMMPfam_TPK_catalytic HMMPfam_TPK_catalytic;HMMPfam_TPK_B1_binding;superfamily_Thiamin pyrophosphokinase substrate-binding domain;superfamily_Thiamin pyrophosphokinase catalytic domain - no_errors DNAH11 8701 genome.wustl.edu 36 7 21814035 21814035 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b52e5d90-dc57-438c-9c38-e043308c24ac eee56151-3098-455a-b8d0-bd4cc912ab3a 7 21814035 21814035 G A SNP DNAH11 ENST00000328843 human ensembl 54_36p 1 known missense c.10196 p.R3399H 1 NULL HMMPfam_Dynein_heavy;superfamily_HR1 repeat;HMMPfam_AAA_5;HMMPfam_DHC_N1;HMMPfam_DHC_N2;superfamily_Spectrin repeat;superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors LOC442434 442434 genome.wustl.edu 36 9 120566038 120566038 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b52e5d90-dc57-438c-9c38-e043308c24ac eee56151-3098-455a-b8d0-bd4cc912ab3a 9 120566038 120566038 G C SNP LOC442434 XM_001718538 human genbank 54_36p 1 model missense c.613 p.A205P 1 NULL - - no_errors KCNT1 57582 genome.wustl.edu 36 9 137782674 137782674 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b52e5d90-dc57-438c-9c38-e043308c24ac eee56151-3098-455a-b8d0-bd4cc912ab3a 9 137782674 137782674 G A SNP KCNT1 NM_020822 human genbank 54_36p 1 provisional missense c.400 p.V134I 0.995 NULL - - no_errors RANBP6 26953 genome.wustl.edu 36 9 6004609 6004609 + Silent SNP A A G novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b52e5d90-dc57-438c-9c38-e043308c24ac eee56151-3098-455a-b8d0-bd4cc912ab3a 9 6004609 6004609 A G SNP RANBP6 NM_012416 human genbank 54_36p -1 validated silent c.999 p.D333 1 NULL - - no_errors PORCN 64840 genome.wustl.edu 36 X 48254630 48254630 + Missense_Mutation SNP T T G novel Unknown TCGA-04-1332-01A-01W-0488-09 TCGA-04-1332-10A-01W-0489-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx b52e5d90-dc57-438c-9c38-e043308c24ac eee56151-3098-455a-b8d0-bd4cc912ab3a X 48254630 48254630 T G SNP PORCN NM_203475 human genbank 54_36p 1 reviewed missense c.140 p.L47W 1 NULL HMMPfam_MBOAT - no_errors