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 default_gene_name gene_name_source ABCA10 10349 genome.wustl.edu 37 17 67171601 67171601 + Missense_Mutation SNP C C G TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 17 67171601 67171601 C G SNP ABCA10 ENST00000269081 human ensembl 70_37 -1 known missense c.2823 p.L941F 0.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA10 HGNC ADORA1 134 genome.wustl.edu 37 1 203134455 203134455 + Silent SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 1 203134455 203134455 C T SNP ADORA1 ENST00000309502 human ensembl 70_37 +1 known silent c.408 p.F136 0.966 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Adenosn_rcpt,prints_GPCR_Rhodpsn,prints_Adeno_A1_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors ADORA1 HGNC ADSSL1 122622 genome.wustl.edu 37 14 105196350 105196350 + Missense_Mutation SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 14 105196350 105196350 C T SNP ADSSL1 ENST00000332972 human ensembl 70_37 +1 known missense c.121 p.P41S 0.048 NULL pfam_Adenylosuccinate_synthetase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase - no_errors ADSSL1 HGNC AIM1 202 genome.wustl.edu 37 6 106967523 106967523 + Missense_Mutation SNP G G C TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 6 106967523 106967523 G C SNP AIM1 ENST00000369066 human ensembl 70_37 +1 known missense c.1216 p.E406Q 0.000 NULL pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors AIM1 HGNC AK7 122481 genome.wustl.edu 37 14 96858567 96858567 + Missense_Mutation SNP G G T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 14 96858567 96858567 G T SNP AK7 ENST00000267584 human ensembl 70_37 +1 known missense c.76 p.D26Y 1.000 NULL pfam_Dpy-30_motif,pfam_Adenylate_kin - no_errors AK7 HGNC ALDH6A1 4329 genome.wustl.edu 37 14 74534264 74534264 + Silent SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 14 74534264 74534264 C T SNP ALDH6A1 ENST00000553458 human ensembl 70_37 -1 known silent c.861 p.K287 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_MeMal-semiAld_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_MeMal-semiAld_DH - no_errors ALDH6A1 HGNC ANO9 338440 genome.wustl.edu 37 11 433372 433372 + Missense_Mutation SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 11 433372 433372 C T SNP ANO9 ENST00000332826 human ensembl 70_37 -1 known missense c.292 p.E98K 0.015 NULL pfam_Anoctamin - no_errors ANO9 HGNC ARID4A 5926 genome.wustl.edu 37 14 58817911 58817911 + Missense_Mutation SNP A A G TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 14 58817911 58817911 A G SNP ARID4A ENST00000355431 human ensembl 70_37 +1 known missense c.1525 p.T509A 0.171 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4A HGNC ARVCF 421 genome.wustl.edu 37 22 19965082 19965082 + Missense_Mutation SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 22 19965082 19965082 G A SNP ARVCF ENST00000263207 human ensembl 70_37 -1 known missense c.1726 p.R576W 1.000 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARVCF HGNC ATG9B 285973 genome.wustl.edu 37 7 150720969 150720969 + RNA SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 7 150720969 150720969 C T SNP ATG9B ENST00000377974 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ATG9B HGNC B3GAT1 27087 genome.wustl.edu 37 11 134253724 134253724 + Silent SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 11 134253724 134253724 G A SNP B3GAT1 ENST00000537389 human ensembl 70_37 -1 known silent c.510 p.D170 1.000 pfam_Glyco_trans_43 pfam_Glyco_trans_43 - no_errors B3GAT1 HGNC BSND 7809 genome.wustl.edu 37 1 55464880 55464880 + Silent SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 1 55464880 55464880 C T SNP BSND ENST00000371265 human ensembl 70_37 +1 known silent c.21 p.F7 1.000 NULL NULL - no_errors BSND HGNC CACNA2D2 9254 genome.wustl.edu 37 3 50404872 50404872 + Missense_Mutation SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 3 50404872 50404872 C T SNP CACNA2D2 ENST00000435965 human ensembl 70_37 -1 known missense c.2375 p.R792H 1.000 NULL pfam_VWA_N,pfam_VDCC_a2/dsu,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D2 HGNC CAMTA1 23261 genome.wustl.edu 37 1 7724942 7724942 + Missense_Mutation SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 1 7724942 7724942 G A SNP CAMTA1 ENST00000303635 human ensembl 70_37 +1 known missense c.2335 p.D779N 1.000 NULL pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC CDH4 1002 genome.wustl.edu 37 20 60511902 60511902 + Silent SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 20 60511902 60511902 C T SNP CDH4 ENST00000360469 human ensembl 70_37 +1 known silent c.2652 p.N884 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin - no_errors CDH4 HGNC CETN1 1068 genome.wustl.edu 37 18 580567 580567 + Silent SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 18 580567 580567 G A SNP CETN1 ENST00000327228 human ensembl 70_37 +1 known silent c.159 p.L53 0.991 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CETN1 HGNC CHTF8 54921 genome.wustl.edu 37 16 69154319 69154319 + Missense_Mutation SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 16 69154319 69154319 G A SNP CHTF8 ENST00000306585 human ensembl 70_37 -1 known missense c.13 p.R5W 0.998 NULL NULL - no_errors CHTF8 HGNC CMTM4 146223 genome.wustl.edu 37 16 66670350 66670350 + Silent SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 16 66670350 66670350 G A SNP CMTM4 ENST00000330687 human ensembl 70_37 -1 known silent c.321 p.L107 1.000 pfam_MARVEL-like_dom pfam_MARVEL-like_dom - no_errors CMTM4 HGNC CNTNAP1 8506 genome.wustl.edu 37 17 40837369 40837369 + Missense_Mutation SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 17 40837369 40837369 G A SNP CNTNAP1 ENST00000264638 human ensembl 70_37 +1 known missense c.646 p.E216K 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP1 HGNC CNTNAP4 85445 genome.wustl.edu 37 16 76528926 76528926 + Missense_Mutation SNP C C A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 16 76528926 76528926 C A SNP CNTNAP4 ENST00000307431 human ensembl 70_37 +1 known missense c.2197 p.Q733K 0.848 NULL pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP4 HGNC COL3A1 1281 genome.wustl.edu 37 2 189873889 189873890 + Frame_Shift_Ins INS - - A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 2 189873889 189873890 - A INS COL3A1 ENST00000304636 human ensembl 70_37 +1 known frame_shift_ins c.3765_3766 p.N1256fs 0.991:1.000 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL3A1 HGNC CPLX4 339302 genome.wustl.edu 37 18 56964111 56964111 + Missense_Mutation SNP T T G TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 18 56964111 56964111 T G SNP CPLX4 ENST00000299721 human ensembl 70_37 -1 known missense c.302 p.D101A 1.000 pfam_Synaphin pfam_Synaphin - no_errors CPLX4 HGNC CPSF1 29894 genome.wustl.edu 37 8 145620684 145620684 + Missense_Mutation SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 8 145620684 145620684 G A SNP CPSF1 ENST00000349769 human ensembl 70_37 -1 known missense c.3062 p.T1021M 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC CSMD2 114784 genome.wustl.edu 37 1 34180259 34180259 + Missense_Mutation SNP C C G TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 1 34180259 34180259 C G SNP CSMD2 ENST00000373381 human ensembl 70_37 -1 known missense c.3334 p.E1112Q 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC CTNNA3 29119 genome.wustl.edu 37 10 68979522 68979522 + Missense_Mutation SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 10 68979522 68979522 G A SNP CTNNA3 ENST00000373744 human ensembl 70_37 -1 known missense c.686 p.S229F 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA3 HGNC CYB5R2 51700 genome.wustl.edu 37 11 7687688 7687688 + Missense_Mutation SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 11 7687688 7687688 G A SNP CYB5R2 ENST00000299498 human ensembl 70_37 -1 known missense c.652 p.P218S 1.000 pfam_OxRdtase_FAD/NAD-bd pfam_OxRdtase_FAD-bd_dom,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase - no_errors CYB5R2 HGNC DDX3X 1654 genome.wustl.edu 37 X 41202541 41202541 + Missense_Mutation SNP G G T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 X 41202541 41202541 G T SNP DDX3X ENST00000399959 human ensembl 70_37 +1 known missense c.616 p.V206L 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_RNA_helicase_DEAD_Q_motif pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX3X HGNC DHX33 56919 genome.wustl.edu 37 17 5359354 5359354 + Missense_Mutation SNP T T C TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 17 5359354 5359354 T C SNP DHX33 ENST00000225296 human ensembl 70_37 -1 known missense c.998 p.Y333C 0.305 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX33 HGNC DPY19L2P1 554236 genome.wustl.edu 37 7 35131375 35131375 + RNA SNP C C G TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 7 35131375 35131375 C G SNP DPY19L2P1 ENST00000436258 human ensembl 70_37 -1 known rna NULL NULL 0.013 - - - no_errors DPY19L2P1 HGNC DZIP1L 199221 genome.wustl.edu 37 3 137800604 137800604 + Silent SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 3 137800604 137800604 G A SNP DZIP1L ENST00000327532 human ensembl 70_37 -1 known silent c.1206 p.I402 0.952 NULL pfscan_Znf_C2H2 - no_errors DZIP1L HGNC EGFL8 80864 genome.wustl.edu 37 6 32135384 32135384 + Silent SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 6 32135384 32135384 C T SNP EGFL8 ENST00000333845 human ensembl 70_37 +1 known silent c.786 p.I262 0.998 NULL pfam_EMI_domain,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors EGFL8 HGNC EIF3E 3646 genome.wustl.edu 37 8 109252288 109252288 + Missense_Mutation SNP T T A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 8 109252288 109252288 T A SNP EIF3E ENST00000220849 human ensembl 70_37 -1 known missense c.222 p.R74S 1.000 pfam_eIF3_su6_N,pirsf_Transl_init_fac_3_su6_euk pfam_eIF3_su6_N,pfam_PCI_dom,smart_PCI_dom,pirsf_Transl_init_fac_3_su6_euk - no_errors EIF3E HGNC ENSG00000226200 0 genome.wustl.edu 37 10 52389833 52389833 + RNA SNP G G C TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 10 52389833 52389833 G C SNP ENSG00000226200 ENST00000443374 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-50E11.3 Clone_based_vega_gene F2RL3 9002 genome.wustl.edu 37 19 17001392 17001392 + Missense_Mutation SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 19 17001392 17001392 G A SNP F2RL3 ENST00000248076 human ensembl 70_37 +1 known missense c.1118 p.G373D 0.000 prints_Prot_act_rcpt_4 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Prot_act_rcpt_4,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt,prints_P2_purnocptor - no_errors F2RL3 HGNC FAM208A 23272 genome.wustl.edu 37 3 56667588 56667588 + Silent SNP A A G TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 3 56667588 56667588 A G SNP FAM208A ENST00000355628 human ensembl 70_37 -1 known silent c.3048 p.F1016 1.000 NULL pfam_DUF3715 - no_errors FAM208A HGNC FBXW9 84261 genome.wustl.edu 37 19 12800192 12800192 + Silent SNP G G C TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 19 12800192 12800192 G C SNP FBXW9 ENST00000380339 human ensembl 70_37 -1 known silent c.1386 p.L462 0.182 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW9 HGNC FGF14 2259 genome.wustl.edu 37 13 102520947 102520947 + RNA SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 13 102520947 102520947 C T SNP FGF14 ENST00000468052 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors FGF14 HGNC FRMPD2 143162 genome.wustl.edu 37 10 49414917 49414917 + Missense_Mutation SNP C C G TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 10 49414917 49414917 C G SNP FRMPD2 ENST00000374201 human ensembl 70_37 -1 known missense c.1671 p.R557S 0.000 pfscan_FERM_domain pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam - no_errors FRMPD2 HGNC FUT10 84750 genome.wustl.edu 37 8 33247035 33247035 + Missense_Mutation SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 8 33247035 33247035 C T SNP FUT10 ENST00000327671 human ensembl 70_37 -1 known missense c.658 p.D220N 0.992 pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met - no_errors FUT10 HGNC GAB3 139716 genome.wustl.edu 37 X 153941667 153941667 + Silent SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 X 153941667 153941667 G A SNP GAB3 ENST00000424127 human ensembl 70_37 -1 known silent c.411 p.S137 0.989 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB3 HGNC GABRA2 2555 genome.wustl.edu 37 4 46252457 46252457 + Missense_Mutation SNP C C A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 4 46252457 46252457 C A SNP GABRA2 ENST00000540012 human ensembl 70_37 -1 known missense c.1239 p.K413N 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABBAa2_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa2_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRA2 HGNC GABRP 2568 genome.wustl.edu 37 5 170236741 170236741 + Missense_Mutation SNP G G C TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 5 170236741 170236741 G C SNP GABRP ENST00000265294 human ensembl 70_37 +1 known missense c.1002 p.Q334H 0.998 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAp_rcpt,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRP HGNC GPBP1 65056 genome.wustl.edu 37 5 56557074 56557074 + Missense_Mutation SNP G G C TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 5 56557074 56557074 G C SNP GPBP1 ENST00000424459 human ensembl 70_37 +1 known missense c.1288 p.D430H 1.000 NULL NULL - no_errors GPBP1 HGNC GPKOW 27238 genome.wustl.edu 37 X 48976099 48976099 + Missense_Mutation SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 X 48976099 48976099 C T SNP GPKOW ENST00000156109 human ensembl 70_37 -1 known missense c.525 p.M175I 1.000 pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom pfam_KOW,pfam_G_patch_dom,superfamily_Translation_prot_SH3-like,smart_G_patch_dom,smart_KOW,pfscan_G_patch_dom - no_errors GPKOW HGNC GPM6A 2823 genome.wustl.edu 37 4 176561306 176561306 + Missense_Mutation SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 4 176561306 176561306 C T SNP GPM6A ENST00000280187 human ensembl 70_37 -1 known missense c.658 p.G220R 1.000 pfam_Myelin_PLP pfam_Myelin_PLP,smart_Myelin_PLP,prints_Myelin_PLP - no_errors GPM6A HGNC GTF2F2 2963 genome.wustl.edu 37 13 45781539 45781540 + RNA INS - - T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 13 45781539 45781540 - T INS GTF2F2 ENST00000494087 human ensembl 70_37 +1 known rna NULL NULL 0.003:0.001 - - - no_errors GTF2F2 HGNC HECW2 57520 genome.wustl.edu 37 2 197085612 197085612 + Silent SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 2 197085612 197085612 C T SNP HECW2 ENST00000260983 human ensembl 70_37 -1 known silent c.4200 p.K1400 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors HECW2 HGNC HLA-DRB6 3128 genome.wustl.edu 37 6 32521160 32521160 + RNA SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 6 32521160 32521160 C T SNP HLA-DRB6 ENST00000411500 human ensembl 70_37 -1 known rna NULL NULL 0.953 - - - no_errors HLA-DRB6 HGNC HSPH1 10808 genome.wustl.edu 37 13 31724198 31724198 + Missense_Mutation SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 13 31724198 31724198 C T SNP HSPH1 ENST00000445273 human ensembl 70_37 -1 known missense c.1036 p.A346T 0.815 pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPH1 HGNC IFNAR1 3454 genome.wustl.edu 37 21 34721581 34721581 + Missense_Mutation SNP G G C TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 21 34721581 34721581 G C SNP IFNAR1 ENST00000270139 human ensembl 70_37 +1 known missense c.973 p.D325H 0.000 superfamily_Fibronectin_type3,pirsf_Interferon_alpha/beta_rcpt-1 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pirsf_Interferon_alpha/beta_rcpt-1 - no_errors IFNAR1 HGNC INTS1 26173 genome.wustl.edu 37 7 1525079 1525079 + Silent SNP G G T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 7 1525079 1525079 G T SNP INTS1 ENST00000389470 human ensembl 70_37 -1 known silent c.3489 p.G1163 0.800 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC KCND2 3751 genome.wustl.edu 37 7 120373014 120373014 + Silent SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 7 120373014 120373014 G A SNP KCND2 ENST00000331113 human ensembl 70_37 +1 known silent c.1173 p.S391 0.003 pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCND2 HGNC KCNMA1 3778 genome.wustl.edu 37 10 78709021 78709021 + Missense_Mutation SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 10 78709021 78709021 G A SNP KCNMA1 ENST00000406533 human ensembl 70_37 -1 known missense c.2600 p.P867L 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl - no_errors KCNMA1 HGNC KDM6B 23135 genome.wustl.edu 37 17 7752018 7752018 + Silent SNP C C G TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 17 7752018 7752018 C G SNP KDM6B ENST00000254846 human ensembl 70_37 +1 known silent c.2412 p.L804 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM6B HGNC KIAA0368 23392 genome.wustl.edu 37 9 114135509 114135509 + Missense_Mutation SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 9 114135509 114135509 C T SNP KIAA0368 ENST00000259335 human ensembl 70_37 -1 known missense c.4811 p.R1604Q 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors KIAA0368 HGNC KIR2DL3 3804 genome.wustl.edu 37 19 55263156 55263156 + Silent SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 19 55263156 55263156 C T SNP KIR2DL3 ENST00000342376 human ensembl 70_37 +1 known silent c.771 p.F257 0.000 NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL3 HGNC LARS 51520 genome.wustl.edu 37 5 145531511 145531511 + Missense_Mutation SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 5 145531511 145531511 C T SNP LARS ENST00000394434 human ensembl 70_37 -1 known missense c.1339 p.D447N 1.000 pfam_aa-tRNA-synth_Ia,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Leu-tRNA-synth_Ia_arc/euk pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Cys-tRNA/MSH_ligase,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Leu-tRNA-synth_Ia_arc/euk - no_errors LARS HGNC LRIG1 26018 genome.wustl.edu 37 3 66455646 66455646 + Missense_Mutation SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 3 66455646 66455646 G A SNP LRIG1 ENST00000273261 human ensembl 70_37 -1 known missense c.1136 p.S379L 0.057 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Cys-rich_flank_reg_C,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRIG1 HGNC MARCH6 10299 genome.wustl.edu 37 5 10377945 10377945 + Missense_Mutation SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 5 10377945 10377945 G A SNP MARCH6 ENST00000274140 human ensembl 70_37 +1 known missense c.55 p.E19K 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH6 HGNC MARK2 2011 genome.wustl.edu 37 11 63671484 63671484 + Missense_Mutation SNP C C A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 11 63671484 63671484 C A SNP MARK2 ENST00000402010 human ensembl 70_37 +1 known missense c.1541 p.S514Y 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK2 HGNC MED31 51003 genome.wustl.edu 37 17 6553727 6553727 + Nonsense_Mutation SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 17 6553727 6553727 G A SNP MED31 ENST00000225728 human ensembl 70_37 -1 known nonsense c.55 p.Q19* 1.000 pfam_Mediator_Med31 pfam_Mediator_Med31 - no_errors MED31 HGNC MFSD2B 388931 genome.wustl.edu 37 2 24247079 24247079 + Silent SNP C C A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 2 24247079 24247079 C A SNP MFSD2B ENST00000338315 human ensembl 70_37 +1 known silent c.1428 p.L476 0.053 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors MFSD2B HGNC MPP2 4355 genome.wustl.edu 37 17 41956724 41956724 + Silent SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 17 41956724 41956724 G A SNP MPP2 ENST00000461854 human ensembl 70_37 -1 known silent c.1473 p.F491 1.000 pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin pfam_Guanylate_kin,pfam_L27_C,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors MPP2 HGNC MS4A14 84689 genome.wustl.edu 37 11 60183756 60183756 + Missense_Mutation SNP G G T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 11 60183756 60183756 G T SNP MS4A14 ENST00000300187 human ensembl 70_37 +1 known missense c.1315 p.D439Y 0.005 NULL pfam_CD20-like - no_errors MS4A14 HGNC MTR 4548 genome.wustl.edu 37 1 236973894 236973894 + Silent SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 1 236973894 236973894 C T SNP MTR ENST00000366577 human ensembl 70_37 +1 known silent c.501 p.I167 1.000 pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_MetH,pfscan_S_MeTrfase,tigrfam_MetH pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH - no_errors MTR HGNC NFKBID 84807 genome.wustl.edu 37 19 36381329 36381329 + Nonsense_Mutation SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 19 36381329 36381329 G A SNP NFKBID ENST00000352614 human ensembl 70_37 -1 known nonsense c.1126 p.Q376* 0.982 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors NFKBID HGNC NRCAM 4897 genome.wustl.edu 37 7 107848053 107848053 + Missense_Mutation SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 7 107848053 107848053 C T SNP NRCAM ENST00000379028 human ensembl 70_37 -1 known missense c.1126 p.E376K 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors NRCAM HGNC NSUN5P1 155400 genome.wustl.edu 37 7 75045895 75045895 + RNA SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 7 75045895 75045895 G A SNP NSUN5P1 ENST00000393633 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors NSUN5P1 HGNC NUPL1 9818 genome.wustl.edu 37 13 25894700 25894700 + Missense_Mutation SNP C C G TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 13 25894700 25894700 C G SNP NUPL1 ENST00000381736 human ensembl 70_37 +1 known missense c.743 p.P248R 1.000 NULL NULL - no_errors NUPL1 HGNC OAS1 4938 genome.wustl.edu 37 12 113354509 113354509 + Missense_Mutation SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 12 113354509 113354509 G A SNP OAS1 ENST00000445409 human ensembl 70_37 +1 known missense c.850 p.E284K 0.000 pfam_2-5-oligoAdlate_synth_1_dom2/C pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS1 HGNC OIT3 170392 genome.wustl.edu 37 10 74684331 74684331 + Missense_Mutation SNP G G T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 10 74684331 74684331 G T SNP OIT3 ENST00000334011 human ensembl 70_37 +1 known missense c.1296 p.L432F 1.000 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom pfam_ZP_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors OIT3 HGNC OR5D16 390144 genome.wustl.edu 37 11 55606854 55606854 + Missense_Mutation SNP G G C TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 11 55606854 55606854 G C SNP OR5D16 ENST00000378396 human ensembl 70_37 +1 known missense c.627 p.E209D 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR5D16 HGNC OR5W2 390148 genome.wustl.edu 37 11 55681565 55681565 + Missense_Mutation SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 11 55681565 55681565 C T SNP OR5W2 ENST00000344514 human ensembl 70_37 -1 known missense c.494 p.R165H 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5W2 HGNC OR6C70 390327 genome.wustl.edu 37 12 55863491 55863491 + Silent SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 12 55863491 55863491 G A SNP OR6C70 ENST00000327335 human ensembl 70_37 -1 known silent c.432 p.F144 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR6C70 HGNC PARN 5073 genome.wustl.edu 37 16 14540804 14540804 + Missense_Mutation SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 16 14540804 14540804 G A SNP PARN ENST00000437198 human ensembl 70_37 -1 known missense c.1805 p.S602L 1.000 NULL pfam_RNase_CAF1,pfam_PolyA-riboNase_RNA_binding,pfam_R3H_ss-bd,superfamily_RNaseH-like_dom,pfscan_R3H_ss-bd - no_errors PARN HGNC PBX3 5090 genome.wustl.edu 37 9 128728131 128728131 + Missense_Mutation SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 9 128728131 128728131 G A SNP PBX3 ENST00000373489 human ensembl 70_37 +1 known missense c.1234 p.A412T 1.000 NULL pfam_PBX,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors PBX3 HGNC PCDHA12 56137 genome.wustl.edu 37 5 140257039 140257039 + Missense_Mutation SNP C C A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 5 140257039 140257039 C A SNP PCDHA12 ENST00000398631 human ensembl 70_37 +1 known missense c.1982 p.S661Y 0.909 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA12 HGNC PCDHB6 56130 genome.wustl.edu 37 5 140531540 140531540 + Missense_Mutation SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 5 140531540 140531540 G A SNP PCDHB6 ENST00000231136 human ensembl 70_37 +1 known missense c.1702 p.A568T 0.456 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC PCSK4 54760 genome.wustl.edu 37 19 1487169 1487169 + Missense_Mutation SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 19 1487169 1487169 G A SNP PCSK4 ENST00000300954 human ensembl 70_37 -1 known missense c.826 p.R276C 0.043 pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53 pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,superfamily_Growth_fac_rcpt,smart_Furin_repeat,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK4 HGNC PDCD11 22984 genome.wustl.edu 37 10 105201705 105201705 + Silent SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 10 105201705 105201705 G A SNP PDCD11 ENST00000369797 human ensembl 70_37 +1 known silent c.4680 p.E1560 0.943 NULL pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1 - no_errors PDCD11 HGNC PKHD1 5314 genome.wustl.edu 37 6 51483976 51483976 + Missense_Mutation SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 6 51483976 51483976 C T SNP PKHD1 ENST00000371117 human ensembl 70_37 -1 known missense c.12128 p.S4043N 0.000 NULL pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1 - no_errors PKHD1 HGNC PORCN 64840 genome.wustl.edu 37 X 48374529 48374529 + Missense_Mutation SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 X 48374529 48374529 C T SNP PORCN ENST00000326194 human ensembl 70_37 +1 known missense c.1168 p.R390C 1.000 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors PORCN HGNC PRUNE2 158471 genome.wustl.edu 37 9 79328481 79328481 + Nonsense_Mutation SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 9 79328481 79328481 G A SNP PRUNE2 ENST00000376718 human ensembl 70_37 -1 novel nonsense c.913 p.Q305* 1.000 pfam_DHHA2 pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,pfam_DHHA2,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC PTEN 5728 genome.wustl.edu 37 10 89717615 89717615 + Nonsense_Mutation SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 10 89717615 89717615 C T SNP PTEN ENST00000371953 human ensembl 70_37 +1 known nonsense c.640 p.Q214* 1.000 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC PTPRN2 5799 genome.wustl.edu 37 7 157926524 157926524 + Silent SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 7 157926524 157926524 G A SNP PTPRN2 ENST00000404321 human ensembl 70_37 -1 known silent c.1470 p.A490 0.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN2 HGNC RAB35 11021 genome.wustl.edu 37 12 120534993 120534993 + Frame_Shift_Del DEL G G - TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 12 120534993 120534993 G - DEL RAB35 ENST00000432953 human ensembl 70_37 -1 known frame_shift_del c.57 p.T20fs 0.124 NULL NULL - no_errors RAB35 HGNC REPIN1 29803 genome.wustl.edu 37 7 150069696 150069696 + Missense_Mutation SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 7 150069696 150069696 G A SNP REPIN1 ENST00000489432 human ensembl 70_37 +1 known missense c.1537 p.D513N 0.994 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors REPIN1 HGNC RNF214 257160 genome.wustl.edu 37 11 117109497 117109497 + Silent SNP A A C TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 11 117109497 117109497 A C SNP RNF214 ENST00000300650 human ensembl 70_37 +1 known silent c.288 p.T96 1.000 NULL pfscan_Znf_RING - no_errors RNF214 HGNC RPH3A 22895 genome.wustl.edu 37 12 113266130 113266130 + Missense_Mutation SNP G G C TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 12 113266130 113266130 G C SNP RPH3A ENST00000389385 human ensembl 70_37 +1 known missense c.7 p.D3H 1.000 pfam_Rabphilin3A_effector_Zn-bd pfam_C2_Ca-dep,pfam_Rabphilin3A_effector_Zn-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom - no_errors RPH3A HGNC SCEL 8796 genome.wustl.edu 37 13 78176203 78176203 + Silent SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 13 78176203 78176203 C T SNP SCEL ENST00000349847 human ensembl 70_37 +1 known silent c.921 p.I307 0.828 NULL smart_Znf_LIM,pfscan_Znf_LIM - no_errors SCEL HGNC SDHA 6389 genome.wustl.edu 37 5 236602 236602 + Silent SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 5 236602 236602 G A SNP SDHA ENST00000264932 human ensembl 70_37 +1 known silent c.1320 p.E440 1.000 pfam_FAD_bind_dom,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg pfam_FAD_bind_dom,pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg - no_errors SDHA HGNC SDK1 221935 genome.wustl.edu 37 7 3998591 3998591 + Missense_Mutation SNP G G C TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 7 3998591 3998591 G C SNP SDK1 ENST00000404826 human ensembl 70_37 +1 known missense c.1179 p.E393D 0.041 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors SDK1 HGNC SLC12A9 56996 genome.wustl.edu 37 7 100424587 100424587 + RNA DEL G G - TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 7 100424587 100424587 G - DEL SLC12A9 ENST00000461016 human ensembl 70_37 +1 putative rna NULL NULL 0.006 - - - no_errors SLC12A9 HGNC SLC39A10 57181 genome.wustl.edu 37 2 196573389 196573389 + Missense_Mutation SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 2 196573389 196573389 G A SNP SLC39A10 ENST00000359634 human ensembl 70_37 +1 known missense c.1396 p.G466R 1.000 pfam_ZIP pfam_ZIP - no_errors SLC39A10 HGNC SNTG2 54221 genome.wustl.edu 37 2 1271197 1271197 + Missense_Mutation SNP G G C TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 2 1271197 1271197 G C SNP SNTG2 ENST00000308624 human ensembl 70_37 +1 known missense c.1138 p.D380H 0.029 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SNTG2 HGNC SPINK5 11005 genome.wustl.edu 37 5 147503405 147503405 + Missense_Mutation SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 5 147503405 147503405 C T SNP SPINK5 ENST00000359874 human ensembl 70_37 +1 known missense c.2548 p.R850C 0.772 smart_Prot_inh_Kazal pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal - no_errors SPINK5 HGNC SUPT5H 6829 genome.wustl.edu 37 19 39965349 39965349 + Silent SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 19 39965349 39965349 C T SNP SUPT5H ENST00000432763 human ensembl 70_37 +1 known silent c.3015 p.R1005 1.000 pirsf_TF_Spt5 pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N,smart_KOW,pirsf_TF_Spt5 - no_errors SUPT5H HGNC TBC1D10A 83874 genome.wustl.edu 37 22 30688746 30688746 + Missense_Mutation SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 22 30688746 30688746 C T SNP TBC1D10A ENST00000215790 human ensembl 70_37 -1 known missense c.1145 p.R382H 0.034 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D10A HGNC TBC1D3P1-DHX40P1 653645 genome.wustl.edu 37 17 58094559 58094559 + RNA SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 17 58094559 58094559 C T SNP TBC1D3P1-DHX40P1 ENST00000407042 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors TBC1D3P1-DHX40P1 HGNC TDGF1 6997 genome.wustl.edu 37 3 46621265 46621265 + Missense_Mutation SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 3 46621265 46621265 G A SNP TDGF1 ENST00000296145 human ensembl 70_37 +1 known missense c.260 p.G87E 0.997 pirsf_Cripto_growth_factor,pfscan_EG-like_dom pfam_Cryptic/Cripto_CFC-dom,pirsf_Cripto_growth_factor,pfscan_EG-like_dom - no_errors TDGF1 HGNC THSD1 55901 genome.wustl.edu 37 13 52972113 52972113 + Missense_Mutation SNP T T C TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 13 52972113 52972113 T C SNP THSD1 ENST00000258613 human ensembl 70_37 -1 known missense c.275 p.Y92C 1.000 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD1 HGNC TINAG 27283 genome.wustl.edu 37 6 54191661 54191661 + Missense_Mutation SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 6 54191661 54191661 C T SNP TINAG ENST00000259782 human ensembl 70_37 +1 known missense c.571 p.R191C 0.987 NULL pfam_Peptidase_C1A_C,pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom - no_errors TINAG HGNC TNFRSF11A 8792 genome.wustl.edu 37 18 60017106 60017106 + Silent SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 18 60017106 60017106 G A SNP TNFRSF11A ENST00000586569 human ensembl 70_37 +1 known silent c.219 p.P73 0.483 smart_TNFR/NGFR_Cys_rich_reg pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_11A,prints_TNFR_11 - no_errors TNFRSF11A HGNC TOP2A 7153 genome.wustl.edu 37 17 38556817 38556817 + Silent SNP A A G TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 17 38556817 38556817 A G SNP TOP2A ENST00000423485 human ensembl 70_37 -1 known silent c.2763 p.I921 1.000 pfam_Topo_IIA_A/C,superfamily_Topo_IIA_cen,smart_Topo_IIA_A/C pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_ATPase-like_ATP-bd,superfamily_Topo_IIA_cen,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_CBFA/NFYB_topo - no_errors TOP2A HGNC TSC2 7249 genome.wustl.edu 37 16 2106737 2106737 + Silent SNP C C T TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 16 2106737 2106737 C T SNP TSC2 ENST00000219476 human ensembl 70_37 +1 known silent c.741 p.I247 1.000 pfam_Tuberin_N,superfamily_ARM-type_fold pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin - no_errors TSC2 HGNC TSPYL5 85453 genome.wustl.edu 37 8 98289031 98289031 + Missense_Mutation SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 8 98289031 98289031 G A SNP TSPYL5 ENST00000322128 human ensembl 70_37 -1 known missense c.1042 p.R348C 0.243 pfam_NAP_family pfam_NAP_family - no_errors TSPYL5 HGNC TTN 7273 genome.wustl.edu 37 2 179462709 179462709 + Missense_Mutation SNP A A G TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 2 179462709 179462709 A G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.49484 p.V16495A 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TUFT1 7286 genome.wustl.edu 37 1 151534633 151534633 + Missense_Mutation SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 1 151534633 151534633 G A SNP TUFT1 ENST00000538902 human ensembl 70_37 +1 known missense c.184 p.A62T 1.000 NULL superfamily_Prefoldin - no_errors TUFT1 HGNC UBE3D 90025 genome.wustl.edu 37 6 83732175 83732175 + Missense_Mutation SNP G G C TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 6 83732175 83732175 G C SNP UBE3D ENST00000369747 human ensembl 70_37 -1 known missense c.843 p.I281M 1.000 pfam_UBQ-conj_enz_E2-bd_prot pfam_UBQ-conj_enz_E2-bd_prot - no_errors UBE3D HGNC UTP20 27340 genome.wustl.edu 37 12 101748657 101748657 + Missense_Mutation SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 12 101748657 101748657 G A SNP UTP20 ENST00000261637 human ensembl 70_37 +1 known missense c.5155 p.E1719K 0.092 superfamily_ARM-type_fold pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC UTRN 7402 genome.wustl.edu 37 6 144875962 144875962 + Missense_Mutation SNP A A G TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 6 144875962 144875962 A G SNP UTRN ENST00000367545 human ensembl 70_37 +1 known missense c.7067 p.E2356G 1.000 smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors UTRN HGNC UVRAG 7405 genome.wustl.edu 37 11 75727987 75727987 + Missense_Mutation SNP G G C TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 11 75727987 75727987 G C SNP UVRAG ENST00000356136 human ensembl 70_37 +1 known missense c.1189 p.D397H 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep - no_errors UVRAG HGNC XIRP2 129446 genome.wustl.edu 37 2 168107674 168107674 + Missense_Mutation SNP G G A TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 2 168107674 168107674 G A SNP XIRP2 ENST00000295237 human ensembl 70_37 +1 known missense c.9772 p.A3258T 0.999 NULL pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd - no_errors XIRP2 HGNC ZNF733P 643955 genome.wustl.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-BI-A0VR-01A-11D-A10S-08 TCGA-BI-A0VR-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc62866c-0dc0-4ef5-bc63-fee1e943a99f e717369f-73df-46ca-a7f2-749b84b96616 7 62752443 62752443 G C SNP ZNF733P ENST00000331425 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ZNF733P HGNC