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 ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF DFFA 0 genome.wustl.edu 37 1 10521575 10521575 + Missense_Mutation SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 10521575 10521575 G T SNP DFFA ENST00000377038 human ensembl 74_37 -1 known missense c.968 p.P323H 0.002 pirsf_DNA_fragmentation_factor_asu pfam_DNA_fragmentation_mid_dom,pfam_CIDE-N_dom,smart_CIDE-N_dom,pirsf_DNA_fragmentation_factor_asu,pfscan_CIDE-N_dom - no_errors DFFA HGNC ENSG00000160049 20 0 0 25 3 10.7143 MASP2 0 genome.wustl.edu 37 1 11087239 11087239 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 11087239 11087239 G A SNP MASP2 ENST00000400897 human ensembl 74_37 -1 known silent c.1764 p.V588 0.634 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors MASP2 HGNC ENSG00000009724 132 0 0 73 21 22.3404 MTOR 0 genome.wustl.edu 37 1 11217234 11217234 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 11217234 11217234 G A SNP MTOR ENST00000361445 human ensembl 74_37 -1 known missense c.4444 p.R1482C 1.000 superfamily_ARM-type_fold,pfscan_PIK_FAT pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 181 0 0 120 51 29.8246 CTTNBP2NL 0 genome.wustl.edu 37 1 112998629 112998629 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 112998629 112998629 G A SNP CTTNBP2NL ENST00000271277 human ensembl 74_37 +1 known missense c.515 p.R172H 1.000 pfam_Cortactin-binding_p2_N pfam_Cortactin-binding_p2_N - no_errors CTTNBP2NL HGNC ENSG00000143079 43 0 0 32 13 28.8889 MOV10 0 genome.wustl.edu 37 1 113234345 113234345 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 113234345 113234345 C T SNP MOV10 ENST00000357443 human ensembl 74_37 +1 known missense c.895 p.R299C 0.375 NULL superfamily_P-loop_NTPase - no_errors MOV10 HGNC ENSG00000155363 95 0 0 95 28 22.7642 NRAS 0 genome.wustl.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 115256529 115256529 T C SNP NRAS ENST00000369535 human ensembl 74_37 -1 known missense c.182 p.Q61R 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors NRAS HGNC ENSG00000213281 214 1 0.465116 73 50 40.6504 PTCHD2 0 genome.wustl.edu 37 1 11561902 11561902 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 11561902 11561902 G A SNP PTCHD2 ENST00000294484 human ensembl 74_37 +1 known missense c.853 p.A285T 0.057 NULL pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 12 0 0 16 10 38.4615 TRIM45 0 genome.wustl.edu 37 1 117660760 117660760 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 117660760 117660760 C T SNP TRIM45 ENST00000256649 human ensembl 74_37 -1 known missense c.1118 p.R373H 0.720 NULL pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM45 HGNC ENSG00000134253 121 0 0 71 27 27.551 VPS13D 0 genome.wustl.edu 37 1 12336527 12336527 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 12336527 12336527 T C SNP VPS13D ENST00000358136 human ensembl 74_37 +1 known missense c.2882 p.V961A 0.997 NULL pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 66 0 0 67 6 8.21918 PRDM2 0 genome.wustl.edu 37 1 14107244 14107244 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 14107244 14107244 C T SNP PRDM2 ENST00000235372 human ensembl 74_37 +1 known missense c.2954 p.P985L 0.970 pirsf_RIZ_retinblastoma-bd_prot pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC ENSG00000116731 159 0 0 117 50 29.9401 PRDM2 0 genome.wustl.edu 37 1 14107250 14107250 + Missense_Mutation SNP C C A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 14107250 14107250 C A SNP PRDM2 ENST00000235372 human ensembl 74_37 +1 known missense c.2960 p.P987H 1.000 pirsf_RIZ_retinblastoma-bd_prot pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC ENSG00000116731 163 0 0 156 11 6.58683 ANKRD34A 0 genome.wustl.edu 37 1 145474607 145474607 + Missense_Mutation SNP C C A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 145474607 145474607 C A SNP ANKRD34A ENST00000323397 human ensembl 74_37 +1 known missense c.1279 p.P427T 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD34A HGNC ENSG00000181039 26 0 0 25 10 28.5714 PIAS3 0 genome.wustl.edu 37 1 145578119 145578119 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 145578119 145578119 C T SNP PIAS3 ENST00000393045 human ensembl 74_37 +1 known missense c.82 p.R28W 1.000 smart_SAP_dom,pfscan_SAP_dom pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS3 HGNC ENSG00000131788 95 0 0 80 9 10.1124 PRPF3 0 genome.wustl.edu 37 1 150318544 150318544 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 150318544 150318544 C T SNP PRPF3 ENST00000324862 human ensembl 74_37 +1 known missense c.1691 p.A564V 1.000 pfam_DUF1115 pfam_Pre-mRNA_splic_Prp3,pfam_DUF1115,pfam_PWI_dom,superfamily_PWI_dom,smart_PWI_dom - no_errors PRPF3 HGNC ENSG00000117360 265 0 0 143 51 26.2887 RPRD2 0 genome.wustl.edu 37 1 150444786 150444786 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 150444786 150444786 G A SNP RPRD2 ENST00000369068 human ensembl 74_37 +1 known missense c.3362 p.R1121H 0.995 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,superfamily_Ricin_B_lectin,smart_CID_dom - no_errors RPRD2 HGNC ENSG00000163125 27 0 0 17 5 22.7273 LYSMD1 0 genome.wustl.edu 37 1 151133390 151133390 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 151133390 151133390 G A SNP LYSMD1 ENST00000368908 human ensembl 74_37 -1 known missense c.652 p.R218W 0.994 NULL pfam_LysM_dom,smart_LysM_dom - no_errors LYSMD1 HGNC ENSG00000163155 111 0 0 75 26 25.7426 KCNN3 0 genome.wustl.edu 37 1 154842330 154842330 + Silent SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 154842330 154842330 T C SNP KCNN3 ENST00000271915 human ensembl 74_37 -1 novel silent c.111 p.Q37 0.893 NULL pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN3 HGNC ENSG00000143603 9 0 0 19 5 20.8333 GON4L 0 genome.wustl.edu 37 1 155734760 155734760 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 155734760 155734760 G A SNP GON4L ENST00000361040 human ensembl 74_37 -1 known missense c.4504 p.R1502C 0.001 NULL NULL - no_errors GON4L HGNC ENSG00000116580 59 0 0 18 14 43.75 MIB2 0 genome.wustl.edu 37 1 1562274 1562274 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 1562274 1562274 G A SNP MIB2 ENST00000505820 human ensembl 74_37 +1 known missense c.1480 p.A494T 0.998 NULL pfam_Mib_Herc2,pfam_Ankyrin_rpt,pfam_Znf_ZZ,superfamily_Ankyrin_rpt-contain_dom,smart_Znf_ZZ,smart_Ankyrin_rpt,smart_Znf_RING,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_RING,pfscan_Znf_ZZ,prints_Ankyrin_rpt - no_errors MIB2 HGNC ENSG00000197530 21 0 0 23 5 17.8571 KIRREL 0 genome.wustl.edu 37 1 158064489 158064489 + Missense_Mutation SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 158064489 158064489 G T SNP KIRREL ENST00000368173 human ensembl 74_37 +1 known missense c.1901 p.R634M 1.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL HGNC ENSG00000183853 78 0 0 56 23 29.1139 OR10J5 0 genome.wustl.edu 37 1 159505663 159505663 + Silent SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 159505663 159505663 A G SNP OR10J5 ENST00000334857 human ensembl 74_37 -1 known silent c.135 p.I45 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10J5 HGNC ENSG00000184155 163 0 0 78 30 27.7778 ADAMTS4 0 genome.wustl.edu 37 1 161160941 161160941 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 161160941 161160941 G A SNP ADAMTS4 ENST00000367996 human ensembl 74_37 -1 known missense c.2501 p.A834V 0.282 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS4 HGNC ENSG00000158859 44 0 0 40 8 16.6667 F5 0 genome.wustl.edu 37 1 169511874 169511874 + Silent SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 169511874 169511874 T C SNP F5 ENST00000367797 human ensembl 74_37 -1 known silent c.2454 p.S818 0.000 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC ENSG00000198734 136 1 0.729927 83 18 17.8218 CACYBP 0 genome.wustl.edu 37 1 174976324 174976324 + Missense_Mutation SNP T T A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 174976324 174976324 T A SNP CACYBP ENST00000367679 human ensembl 74_37 +1 known missense c.423 p.S141R 0.998 pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom pfam_Siah-Interact_N,pfam_CS_dom,pfam_SGS,superfamily_HSP20-like_chaperone,pfscan_CS_dom,pfscan_SGS - no_errors CACYBP HGNC ENSG00000116161 46 0 0 17 9 34.6154 ABL2 0 genome.wustl.edu 37 1 179078099 179078099 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 179078099 179078099 G A SNP ABL2 ENST00000502732 human ensembl 74_37 -1 known missense c.2303 p.P768L 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_F-actin_binding,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,pfam_SH3-like_bac-type,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL2 HGNC ENSG00000143322 126 0 0 75 28 27.1845 ARHGEF10L 0 genome.wustl.edu 37 1 17982495 17982495 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 17982495 17982495 C T SNP ARHGEF10L ENST00000361221 human ensembl 74_37 +1 known missense c.2603 p.P868L 0.987 superfamily_WD40_repeat_dom pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10L HGNC ENSG00000074964 11 0 0 6 3 33.3333 HMCN1 0 genome.wustl.edu 37 1 186008082 186008082 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 186008082 186008082 C T SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known silent c.5973 p.C1991 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 112 0 0 35 23 39.6552 HMCN1 0 genome.wustl.edu 37 1 186114898 186114898 + Missense_Mutation SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 186114898 186114898 G T SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.14451 p.W4817C 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 74 0 0 54 9 14.2857 CFHR3 0 genome.wustl.edu 37 1 196759281 196759281 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 196759281 196759281 G A SNP CFHR3 ENST00000367425 human ensembl 74_37 +1 known silent c.720 p.Q240 0.270 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR3 HGNC ENSG00000116785 80 0 0 44 10 18.5185 ZBTB41 0 genome.wustl.edu 37 1 197144169 197144169 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 197144169 197144169 G A SNP ZBTB41 ENST00000367405 human ensembl 74_37 -1 known silent c.1956 p.S652 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB41 HGNC ENSG00000177888 131 1 0.757576 56 15 21.1268 PPP1R12B 0 genome.wustl.edu 37 1 202409874 202409874 + Missense_Mutation SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 202409874 202409874 G T SNP PPP1R12B ENST00000336894 human ensembl 74_37 +1 known missense c.1499 p.R500L 0.999 pirsf_Pase-1_reg_su_12A/B/C_euk pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_12A/B/C_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12B HGNC ENSG00000077157 90 0 0 39 14 26.4151 CNTN2 0 genome.wustl.edu 37 1 205033795 205033795 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 205033795 205033795 G A SNP CNTN2 ENST00000331830 human ensembl 74_37 +1 known missense c.1436 p.S479N 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN2 HGNC ENSG00000184144 104 0 0 68 12 15 TMCC2 0 genome.wustl.edu 37 1 205210709 205210709 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 205210709 205210709 G A SNP TMCC2 ENST00000358024 human ensembl 74_37 +1 known missense c.284 p.R95Q 1.000 NULL pfam_Predicted_TM_coiled-coil_2,superfamily_t-SNARE - no_errors TMCC2 HGNC ENSG00000133069 18 0 0 23 9 28.125 TMCC2 0 genome.wustl.edu 37 1 205210851 205210851 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 205210851 205210851 C T SNP TMCC2 ENST00000358024 human ensembl 74_37 +1 known silent c.426 p.P142 0.972 NULL pfam_Predicted_TM_coiled-coil_2,superfamily_t-SNARE - no_errors TMCC2 HGNC ENSG00000133069 37 0 0 36 21 36.8421 CDK18 0 genome.wustl.edu 37 1 205492350 205492350 + Missense_Mutation SNP C C A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 205492350 205492350 C A SNP CDK18 ENST00000506784 human ensembl 74_37 +1 known missense c.55 p.R19S 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK18 HGNC ENSG00000117266 66 0 0 47 12 20.339 NUCKS1 0 genome.wustl.edu 37 1 205687461 205687461 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 205687461 205687461 C T SNP NUCKS1 ENST00000367142 human ensembl 74_37 -1 known missense c.679 p.E227K 1.000 NULL NULL - no_errors NUCKS1 HGNC ENSG00000069275 120 0 0 66 21 24.1379 CR1 0 genome.wustl.edu 37 1 207787796 207787796 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 207787796 207787796 T C SNP CR1 ENST00000367049 human ensembl 74_37 +1 known missense c.6623 p.M2208T 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1 HGNC ENSG00000203710 64 0 0 44 6 12 KCNH1 0 genome.wustl.edu 37 1 211280696 211280696 + Missense_Mutation SNP C C A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 211280696 211280696 C A SNP KCNH1 ENST00000271751 human ensembl 74_37 -1 known missense c.103 p.A35S 1.000 superfamily_PAS,pfscan_PAS,tigrfam_PAS pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH1 HGNC ENSG00000143473 68 0 0 26 7 21.2121 USH2A 0 genome.wustl.edu 37 1 215956110 215956110 + Silent SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 215956110 215956110 A G SNP USH2A ENST00000366943 human ensembl 74_37 -1 known silent c.10555 p.L3519 0.047 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 77 0 0 26 15 36.5854 MIA3 0 genome.wustl.edu 37 1 222802330 222802330 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 222802330 222802330 G A SNP MIA3 ENST00000344441 human ensembl 74_37 +1 known missense c.1768 p.A590T 0.000 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA3 HGNC ENSG00000154305 59 0 0 38 14 26.9231 LIN9 0 genome.wustl.edu 37 1 226426763 226426763 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 226426763 226426763 T C SNP LIN9 ENST00000328205 human ensembl 74_37 -1 known missense c.1202 p.Q401R 1.000 NULL pfam_LIN-9/ALY1 - no_errors LIN9 HGNC ENSG00000183814 55 0 0 19 8 29.6296 OBSCN 0 genome.wustl.edu 37 1 228462439 228462439 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 228462439 228462439 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known silent c.5850 p.G1950 0.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 16 0 0 28 8 22.2222 OBSCN 0 genome.wustl.edu 37 1 228509303 228509303 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 228509303 228509303 G A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.14761 p.V4921M 0.960 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 32 0 0 26 9 25.7143 OBSCN 0 genome.wustl.edu 37 1 228547527 228547527 + Missense_Mutation SNP T T G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 228547527 228547527 T G SNP OBSCN ENST00000366709 human ensembl 74_37 +1 known missense c.10291 p.S3431A 0.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_DH-domain,pfam_Fibronectin_type3,pfam_IQ_motif_EF-hand-BS,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 11 0 0 7 11 61.1111 SIPA1L2 0 genome.wustl.edu 37 1 232561511 232561511 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 232561511 232561511 C T SNP SIPA1L2 ENST00000262861 human ensembl 74_37 -1 known missense c.4454 p.R1485H 1.000 pfam_DUF3401 pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L2 HGNC ENSG00000116991 37 0 0 30 17 36.1702 PCNXL2 0 genome.wustl.edu 37 1 233136126 233136126 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 233136126 233136126 G A SNP PCNXL2 ENST00000258229 human ensembl 74_37 -1 known silent c.5253 p.H1751 0.783 pfam_Pecanex,superfamily_Trypsin-like_Pept_dom pfam_Pecanex,superfamily_Trypsin-like_Pept_dom - no_errors PCNXL2 HGNC ENSG00000135749 93 0 0 80 40 33.3333 ID3 0 genome.wustl.edu 37 1 23885634 23885634 + Missense_Mutation SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 23885634 23885634 G T SNP ID3 ENST00000374561 human ensembl 74_37 -1 known missense c.284 p.P95H 0.436 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors ID3 HGNC ENSG00000117318 125 0 0 121 19 13.5714 CHRM3 0 genome.wustl.edu 37 1 240070882 240070882 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 240070882 240070882 G A SNP CHRM3 ENST00000255380 human ensembl 74_37 +1 known missense c.131 p.R44Q 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M3_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM3 HGNC ENSG00000133019 94 0 0 69 22 24.1758 ZNF496 0 genome.wustl.edu 37 1 247464040 247464040 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 247464040 247464040 G A SNP ZNF496 ENST00000366498 human ensembl 74_37 -1 known silent c.1653 p.N551 0.004 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF496 HGNC ENSG00000162714 135 0 0 85 39 31.4516 C1orf63 0 genome.wustl.edu 37 1 25569036 25569036 + RNA SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 25569036 25569036 T C SNP C1orf63 ENST00000475766 human ensembl 74_37 -1 known rna NULL NULL 0.819 - - - no_errors C1orf63 HGNC ENSG00000117616 39 0 0 16 7 30.4348 LDLRAP1 0 genome.wustl.edu 37 1 25890244 25890244 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 25890244 25890244 C T SNP LDLRAP1 ENST00000374338 human ensembl 74_37 +1 known missense c.709 p.P237S 0.001 NULL pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors LDLRAP1 HGNC ENSG00000157978 59 0 0 43 14 24.5614 WASF2 0 genome.wustl.edu 37 1 27755319 27755319 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 27755319 27755319 C T SNP WASF2 ENST00000430629 human ensembl 74_37 -1 known missense c.82 p.V28M 0.932 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF2 HGNC ENSG00000158195 78 0 0 55 8 12.6984 SRSF4 0 genome.wustl.edu 37 1 29475303 29475303 + Silent SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 29475303 29475303 A G SNP SRSF4 ENST00000373795 human ensembl 74_37 -1 known silent c.1104 p.S368 0.999 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF4 HGNC ENSG00000116350 18 0 0 10 3 23.0769 SERINC2 0 genome.wustl.edu 37 1 31896597 31896597 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 31896597 31896597 C T SNP SERINC2 ENST00000373710 human ensembl 74_37 +1 known missense c.124 p.R42C 0.058 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC2 HGNC ENSG00000168528 101 0 0 84 25 22.9358 ARHGEF16 0 genome.wustl.edu 37 1 3396446 3396446 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 3396446 3396446 G A SNP ARHGEF16 ENST00000378378 human ensembl 74_37 +1 known silent c.1959 p.A653 0.007 pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_DH-domain,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF16 HGNC ENSG00000130762 93 0 0 60 41 40.5941 CSMD2 0 genome.wustl.edu 37 1 34003177 34003177 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 34003177 34003177 G A SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.9664 p.R3222C 0.941 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 40 0 0 34 3 8.10811 TP73 0 genome.wustl.edu 37 1 3644760 3644760 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 3644760 3644760 C T SNP TP73 ENST00000378295 human ensembl 74_37 +1 known silent c.1053 p.D351 0.845 pfam_p53_tetrameristn,superfamily_p53_tetrameristn pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP73 HGNC ENSG00000078900 104 0 0 111 9 7.5 MACF1 0 genome.wustl.edu 37 1 39900149 39900149 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 39900149 39900149 G A SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known missense c.11443 p.A3815T 1.000 smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 41 0 0 30 14 31.8182 PPIE 0 genome.wustl.edu 37 1 40204576 40204576 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 40204576 40204576 G A SNP PPIE ENST00000324379 human ensembl 74_37 +1 known missense c.4 p.A2T 1.000 pirsf_Cyclophilin-type_PPIase_E pfam_Cyclophilin-like_PPIase_dom,pfam_RRM_dom,superfamily_Cyclophilin-like_PPIase_dom,smart_RRM_dom,pirsf_Cyclophilin-type_PPIase_E,pfscan_RRM_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIE HGNC ENSG00000084072 32 0 0 24 13 35.1351 SZT2 0 genome.wustl.edu 37 1 43912756 43912756 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 43912756 43912756 G A SNP SZT2 ENST00000562955 human ensembl 74_37 +1 known missense c.9032 p.G3011D 1.000 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 33 0 0 31 9 22.5 PTPRF 0 genome.wustl.edu 37 1 44056811 44056811 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 44056811 44056811 G A SNP PTPRF ENST00000359947 human ensembl 74_37 +1 known missense c.1118 p.R373H 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRF HGNC ENSG00000142949 59 0 0 52 23 30.6667 PTPRF 0 genome.wustl.edu 37 1 44063476 44063476 + Missense_Mutation SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 44063476 44063476 G T SNP PTPRF ENST00000359947 human ensembl 74_37 +1 known missense c.1871 p.R624L 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRF HGNC ENSG00000142949 26 0 0 20 5 20 B4GALT2 0 genome.wustl.edu 37 1 44447064 44447064 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 44447064 44447064 G A SNP B4GALT2 ENST00000309519 human ensembl 74_37 +1 known missense c.319 p.G107R 0.998 NULL pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT2 HGNC ENSG00000117411 38 0 0 31 16 34.0426 BEND5 0 genome.wustl.edu 37 1 49224896 49224896 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 49224896 49224896 G A SNP BEND5 ENST00000371833 human ensembl 74_37 -1 known missense c.421 p.R141W 1.000 NULL pfam_BEN_domain - no_errors BEND5 HGNC ENSG00000162373 14 0 0 3 3 50 ZFYVE9 0 genome.wustl.edu 37 1 52811808 52811808 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 52811808 52811808 C T SNP ZFYVE9 ENST00000287727 human ensembl 74_37 +1 known missense c.4193 p.P1398L 1.000 pfam_DUF3480,pirsf_Znf_FYVE_SARA/endofin pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE9 HGNC ENSG00000157077 81 0 0 70 26 27.0833 MROH7-TTC4 0 genome.wustl.edu 37 1 55119617 55119617 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 55119617 55119617 G A SNP MROH7-TTC4 ENST00000414150 human ensembl 74_37 +1 known missense c.1018 p.D340N 1.000 NULL superfamily_ARM-type_fold - no_errors MROH7-TTC4 HGNC ENSG00000271723 70 0 0 95 9 8.65385 CHD5 0 genome.wustl.edu 37 1 6206379 6206379 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 6206379 6206379 G A SNP CHD5 ENST00000262450 human ensembl 74_37 -1 known silent c.1695 p.S565 0.957 NULL pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD5 HGNC ENSG00000116254 60 0 0 51 20 28.169 JAK1 0 genome.wustl.edu 37 1 65301870 65301870 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 65301870 65301870 T C SNP JAK1 ENST00000342505 human ensembl 74_37 -1 known missense c.3169 p.K1057E 1.000 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak1,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors JAK1 HGNC ENSG00000162434 54 0 0 19 18 48.6486 JAK1 0 genome.wustl.edu 37 1 65321216 65321216 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 65321216 65321216 G A SNP JAK1 ENST00000342505 human ensembl 74_37 -1 known missense c.1624 p.R542C 0.974 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_SH2 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak1,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors JAK1 HGNC ENSG00000162434 41 0 0 32 13 28.8889 PDE4B 0 genome.wustl.edu 37 1 66831415 66831415 + Silent SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 66831415 66831415 T C SNP PDE4B ENST00000329654 human ensembl 74_37 +1 known silent c.1350 p.H450 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4B HGNC ENSG00000184588 53 0 0 29 10 25.641 ACADM 0 genome.wustl.edu 37 1 76200474 76200474 + Splice_Site SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 76200474 76200474 A G SNP ACADM ENST00000420607 human ensembl 74_37 +1 known splice_site c.400-2 e6-2 1.000 - - - no_errors ACADM HGNC ENSG00000117054 27 0 0 10 3 23.0769 FAM73A 0 genome.wustl.edu 37 1 78279472 78279472 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 78279472 78279472 C T SNP FAM73A ENST00000370791 human ensembl 74_37 +1 known missense c.691 p.R231C 1.000 pfam_DUF2217 pfam_DUF2217 - no_errors FAM73A HGNC ENSG00000180488 95 0 0 57 25 30.4878 DNAJB4 0 genome.wustl.edu 37 1 78470858 78470858 + Nonsense_Mutation SNP A A T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 78470858 78470858 A T SNP DNAJB4 ENST00000370763 human ensembl 74_37 +1 known nonsense c.64 p.K22* 1.000 pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain pfam_DnaJ_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB4 HGNC ENSG00000162616 63 0 0 34 9 20.9302 SLC45A1 0 genome.wustl.edu 37 1 8404001 8404001 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 8404001 8404001 G A SNP SLC45A1 ENST00000377479 human ensembl 74_37 +1 known silent c.2277 p.L759 1.000 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A1 HGNC ENSG00000162426 51 0 0 45 27 37.5 FNBP1L 0 genome.wustl.edu 37 1 93996334 93996334 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 93996334 93996334 G A SNP FNBP1L ENST00000271234 human ensembl 74_37 +1 known missense c.533 p.R178H 0.994 NULL pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_HR1_rho-bd,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain - no_errors FNBP1L HGNC ENSG00000137942 14 0 0 6 4 40 LOXL4 0 genome.wustl.edu 37 10 100016575 100016575 + Nonsense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 10 100016575 100016575 G A SNP LOXL4 ENST00000260702 human ensembl 74_37 -1 known nonsense c.1390 p.R464* 1.000 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR - no_errors LOXL4 HGNC ENSG00000138131 64 0 0 43 25 36.7647 DNMBP 0 genome.wustl.edu 37 10 101728961 101728961 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 10 101728961 101728961 G A SNP DNMBP ENST00000342239 human ensembl 74_37 -1 known missense c.179 p.T60I 1.000 superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain,prints_p67phox,prints_Spectrin_alpha_SH3 - no_errors DNMBP HGNC ENSG00000107554 65 0 0 41 4 8.88889 PKD2L1 0 genome.wustl.edu 37 10 102048787 102048787 + Silent SNP C C A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 10 102048787 102048787 C A SNP PKD2L1 ENST00000318222 human ensembl 74_37 -1 known silent c.2277 p.P759 0.000 NULL pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2,prints_PKD_1 - no_errors PKD2L1 HGNC ENSG00000107593 60 0 0 32 12 27.2727 SEMA4G 0 genome.wustl.edu 37 10 102732747 102732747 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 10 102732747 102732747 G A SNP SEMA4G ENST00000210633 human ensembl 74_37 +1 known silent c.78 p.P26 0.696 NULL pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA4G HGNC ENSG00000095539 85 0 0 58 21 26.5823 LZTS2 0 genome.wustl.edu 37 10 102762318 102762318 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 10 102762318 102762318 C T SNP LZTS2 ENST00000370220 human ensembl 74_37 +1 known missense c.23 p.P8L 0.996 NULL NULL - no_errors LZTS2 HGNC ENSG00000107816 60 0 0 47 18 27.6923 FBXW4 0 genome.wustl.edu 37 10 103436163 103436163 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 10 103436163 103436163 C T SNP FBXW4 ENST00000331272 human ensembl 74_37 -1 known silent c.291 p.V97 1.000 superfamily_F-box_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FBXW4 HGNC ENSG00000107829 223 0 0 121 52 30.0578 ELOVL3 0 genome.wustl.edu 37 10 103987432 103987432 + Missense_Mutation SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 10 103987432 103987432 G T SNP ELOVL3 ENST00000370005 human ensembl 74_37 +1 known missense c.151 p.G51W 1.000 pfam_GNS1_SUR4 pfam_GNS1_SUR4 - no_errors ELOVL3 HGNC ENSG00000119915 111 0 0 74 26 26 PSD 0 genome.wustl.edu 37 10 104176728 104176728 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 10 104176728 104176728 C T SNP PSD ENST00000020673 human ensembl 74_37 -1 known missense c.68 p.R23H 0.120 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD HGNC ENSG00000059915 17 0 0 17 8 32 INA 0 genome.wustl.edu 37 10 105046856 105046856 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 10 105046856 105046856 G A SNP INA ENST00000369849 human ensembl 74_37 +1 known missense c.1130 p.R377Q 1.000 pfam_IF pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin - no_errors INA HGNC ENSG00000148798 32 0 0 23 3 11.5385 PDCD11 0 genome.wustl.edu 37 10 105201638 105201638 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 10 105201638 105201638 C T SNP PDCD11 ENST00000369797 human ensembl 74_37 +1 known missense c.4613 p.A1538V 0.302 NULL pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold,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 ENSG00000148843 32 0 0 26 7 21.2121 CALHM2 0 genome.wustl.edu 37 10 105209489 105209489 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 10 105209489 105209489 G A SNP CALHM2 ENST00000260743 human ensembl 74_37 -1 known silent c.210 p.I70 0.984 NULL NULL - no_errors CALHM2 HGNC ENSG00000138172 78 0 0 78 6 7.14286 KIAA1598 0 genome.wustl.edu 37 10 118674916 118674916 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 10 118674916 118674916 G A SNP KIAA1598 ENST00000392903 human ensembl 74_37 -1 known silent c.1275 p.P425 0.136 NULL superfamily_Adenylate_cyclase-assoc_CAP_N - no_errors KIAA1598 HGNC ENSG00000187164 234 0 0 58 16 21.6216 CACUL1 0 genome.wustl.edu 37 10 120460914 120460914 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 10 120460914 120460914 A G SNP CACUL1 ENST00000369151 human ensembl 74_37 -1 known missense c.700 p.F234L 1.000 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,superfamily_Cullin_repeat-like_dom - no_errors CACUL1 HGNC ENSG00000151893 29 0 0 9 4 30.7692 WDR11 0 genome.wustl.edu 37 10 122661812 122661812 + Nonsense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 10 122661812 122661812 C T SNP WDR11 ENST00000263461 human ensembl 74_37 +1 known nonsense c.2731 p.Q911* 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR11 HGNC ENSG00000120008 58 0 0 21 3 12.5 ZRANB1 0 genome.wustl.edu 37 10 126670302 126670302 + Nonsense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 10 126670302 126670302 G A SNP ZRANB1 ENST00000359653 human ensembl 74_37 +1 known nonsense c.1452 p.W484* 1.000 pfam_OTU,pfscan_OTU pfam_OTU,pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_OTU,pfscan_Znf_RanBP2 - no_errors ZRANB1 HGNC ENSG00000019995 40 0 0 20 2 9.09091 CTBP2 0 genome.wustl.edu 37 10 126715374 126715374 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 10 126715374 126715374 C T SNP CTBP2 ENST00000309035 human ensembl 74_37 -1 known missense c.955 p.A319T 0.001 NULL pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom - no_errors CTBP2 HGNC ENSG00000175029 45 0 0 29 11 27.5 ADAM12 0 genome.wustl.edu 37 10 127753389 127753389 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 10 127753389 127753389 G A SNP ADAM12 ENST00000368679 human ensembl 74_37 -1 known missense c.1604 p.T535M 1.000 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM12 HGNC ENSG00000148848 22 0 0 31 3 8.82353 CCDC3 0 genome.wustl.edu 37 10 12940438 12940438 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 10 12940438 12940438 C T SNP CCDC3 ENST00000378825 human ensembl 74_37 -1 known missense c.791 p.R264H 0.000 NULL NULL - no_errors CCDC3 HGNC ENSG00000151468 17 0 0 17 7 29.1667 PTPRE 0 genome.wustl.edu 37 10 129881102 129881102 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 10 129881102 129881102 T C SNP PTPRE ENST00000254667 human ensembl 74_37 +1 known missense c.2035 p.Y679H 1.000 pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRE HGNC ENSG00000132334 68 0 0 15 5 25 MKI67 0 genome.wustl.edu 37 10 129899944 129899944 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 10 129899944 129899944 G A SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known missense c.9283 p.R3095C 0.003 NULL pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 33 0 0 14 6 30 MLLT10 0 genome.wustl.edu 37 10 22002772 22002772 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 10 22002772 22002772 G A SNP MLLT10 ENST00000307729 human ensembl 74_37 +1 known missense c.1771 p.V591I 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MLLT10 HGNC ENSG00000078403 82 0 0 47 14 22.9508 GDF10 0 genome.wustl.edu 37 10 48428830 48428830 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 10 48428830 48428830 C T SNP GDF10 ENST00000224605 human ensembl 74_37 -1 known silent c.1056 p.S352 0.974 pirsf_BMP3/GDF10 pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,pirsf_BMP3/GDF10 - no_errors GDF10 HGNC ENSG00000107623 54 0 0 50 10 16.6667 FRMPD2 0 genome.wustl.edu 37 10 49440209 49440209 + Missense_Mutation SNP A A T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 10 49440209 49440209 A T SNP FRMPD2 ENST00000374201 human ensembl 74_37 -1 known missense c.1117 p.S373T 0.863 pfam_FERM_N,smart_Band_41_domain,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 ENSG00000170324 105 0 0 48 13 21.3115 VSTM4 0 genome.wustl.edu 37 10 50315809 50315809 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 10 50315809 50315809 C T SNP VSTM4 ENST00000332853 human ensembl 74_37 -1 known missense c.287 p.R96Q 0.042 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors VSTM4 HGNC ENSG00000165633 64 0 0 66 20 23.2558 DRGX 0 genome.wustl.edu 37 10 50574403 50574403 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 10 50574403 50574403 C T SNP DRGX ENST00000434016 human ensembl 74_37 -1 known missense c.565 p.V189I 1.000 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors DRGX HGNC ENSG00000165606 74 0 0 53 21 28.3784 NCOA4 0 genome.wustl.edu 37 10 51584688 51584688 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 10 51584688 51584688 A G SNP NCOA4 ENST00000452682 human ensembl 74_37 +1 known missense c.835 p.K279E 1.000 pfam_ARA70 pfam_ARA70 - no_errors NCOA4 HGNC ENSG00000138293 70 0 0 40 19 32.2034 FAM21A 0 genome.wustl.edu 37 10 51829407 51829407 + Missense_Mutation SNP A A T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 10 51829407 51829407 A T SNP FAM21A ENST00000282633 human ensembl 74_37 +1 known missense c.227 p.D76V 1.000 NULL NULL - no_errors FAM21A HGNC ENSG00000099290 167 0 0 69 22 24.1758 CTNNA3 0 genome.wustl.edu 37 10 68940148 68940148 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 10 68940148 68940148 C T SNP CTNNA3 ENST00000373744 human ensembl 74_37 -1 known missense c.974 p.R325Q 1.000 pfam_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA3 HGNC ENSG00000183230 84 0 0 42 20 32.2581 SIRT1 0 genome.wustl.edu 37 10 69647188 69647188 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 10 69647188 69647188 C T SNP SIRT1 ENST00000212015 human ensembl 74_37 +1 known silent c.444 p.F148 0.011 NULL pfam_Sirtuin,pfscan_Ssirtuin_cat_dom - no_errors SIRT1 HGNC ENSG00000096717 102 0 0 59 7 10.6061 PSAP 0 genome.wustl.edu 37 10 73581689 73581689 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 10 73581689 73581689 C T SNP PSAP ENST00000394934 human ensembl 74_37 -1 known missense c.859 p.A287T 0.997 pirsf_Saposin_chordata pirsf_Saposin_chordata,pfam_SapB_1,pfam_SapB_2,pfam_SapA,superfamily_Saposin-like,smart_SapA,smart_SaposinB,prints_Saposin,pfscan_SapA,pfscan_SaposinB - no_errors PSAP HGNC ENSG00000197746 45 0 0 22 16 42.1053 EIF5AL1 0 genome.wustl.edu 37 10 81272626 81272626 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 10 81272626 81272626 C T SNP EIF5AL1 ENST00000520547 human ensembl 74_37 +1 known missense c.221 p.P74L 1.000 superfamily_Translation_prot_SH3-like,pirsf_Transl_elong_IF5A,tigrfam_Transl_elong_IF5A pfam_Transl_elong_IF5A_C,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold,pirsf_Transl_elong_IF5A,tigrfam_Transl_elong_IF5A - no_errors EIF5AL1 HGNC ENSG00000253626 37 0 0 20 6 23.0769 ANXA11 0 genome.wustl.edu 37 10 81915622 81915622 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 10 81915622 81915622 C T SNP ANXA11 ENST00000265447 human ensembl 74_37 -1 known missense c.1505 p.G502D 0.995 NULL pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXI,prints_AnnexinVII - no_errors ANXA11 HGNC ENSG00000122359 262 0 0 168 45 21.1268 R3HCC1L 0 genome.wustl.edu 37 10 99968718 99968718 + Missense_Mutation SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 10 99968718 99968718 G T SNP R3HCC1L ENST00000370584 human ensembl 74_37 +1 known missense c.847 p.D283Y 0.730 NULL NULL - no_errors R3HCC1L HGNC ENSG00000166024 93 0 0 41 6 12.766 GRIA4 0 genome.wustl.edu 37 11 105781166 105781166 + Silent SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 11 105781166 105781166 T C SNP GRIA4 ENST00000282499 human ensembl 74_37 +1 known silent c.1164 p.G388 0.975 superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA4 HGNC ENSG00000152578 45 0 0 6 8 57.1429 NPAT 0 genome.wustl.edu 37 11 108032226 108032226 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 11 108032226 108032226 C T SNP NPAT ENST00000278612 human ensembl 74_37 -1 known missense c.3587 p.R1196Q 0.922 NULL smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors NPAT HGNC ENSG00000149308 278 0 0 71 59 45.3846 MUC2 0 genome.wustl.edu 37 11 1085825 1085825 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 11 1085825 1085825 T C SNP MUC2 ENST00000441003 human ensembl 74_37 +1 known missense c.2746 p.C916R 1.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 110 0 0 85 13 13.2653 PHLDB1 0 genome.wustl.edu 37 11 118516346 118516346 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 11 118516346 118516346 T C SNP PHLDB1 ENST00000361417 human ensembl 74_37 +1 known missense c.3394 p.C1132R 1.000 NULL pfam_Pleckstrin_homology,superfamily_SMAD_FHA_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB1 HGNC ENSG00000019144 68 0 0 59 8 11.9403 MFRP 0 genome.wustl.edu 37 11 119212402 119212402 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 11 119212402 119212402 G A SNP MFRP ENST00000449574 human ensembl 74_37 -1 known silent c.1596 p.G532 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_CUB_dom,pfam_Frizzled_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Frizzled_dom,pfscan_CUB_dom,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors MFRP HGNC ENSG00000235718 41 0 0 49 4 7.54717 PRDM10 0 genome.wustl.edu 37 11 129788598 129788598 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 11 129788598 129788598 G A SNP PRDM10 ENST00000358825 human ensembl 74_37 -1 known missense c.2062 p.R688W 0.971 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PRDM10 HGNC ENSG00000170325 182 0 0 81 55 40.4412 SNX19 0 genome.wustl.edu 37 11 130750601 130750601 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 11 130750601 130750601 T C SNP SNX19 ENST00000265909 human ensembl 74_37 -1 known missense c.2674 p.K892E 0.000 pfam_Sorting_nexin_C pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,superfamily_Phox,smart_PX_assoc_Snx13,smart_Phox,pfscan_Phox,pfscan_Phox_assoc - no_errors SNX19 HGNC ENSG00000120451 102 0 0 41 28 40.5797 NCAPD3 0 genome.wustl.edu 37 11 134047223 134047223 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 11 134047223 134047223 C T SNP NCAPD3 ENST00000534548 human ensembl 74_37 -1 known missense c.2912 p.R971H 1.000 superfamily_ARM-type_fold,pirsf_NCAPD3 superfamily_ARM-type_fold,pirsf_NCAPD3 - no_errors NCAPD3 HGNC ENSG00000151503 117 0 0 44 40 47.619 BTBD10 0 genome.wustl.edu 37 11 13435172 13435172 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 11 13435172 13435172 C T SNP BTBD10 ENST00000278174 human ensembl 74_37 -1 known missense c.713 p.R238H 1.000 superfamily_BTB/POZ_fold,smart_BTB/POZ-like superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors BTBD10 HGNC ENSG00000148925 56 0 0 9 13 59.0909 USH1C 0 genome.wustl.edu 37 11 17531368 17531368 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 11 17531368 17531368 C T SNP USH1C ENST00000005226 human ensembl 74_37 -1 known silent c.1548 p.P516 0.074 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors USH1C HGNC ENSG00000006611 97 0 0 48 40 45.4545 NAV2 0 genome.wustl.edu 37 11 19735450 19735450 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 11 19735450 19735450 C T SNP NAV2 ENST00000396087 human ensembl 74_37 +1 known missense c.209 p.A70V 1.000 superfamily_CH-domain pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 33 0 0 47 6 11.3208 GAS2 0 genome.wustl.edu 37 11 22707287 22707287 + Silent SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 11 22707287 22707287 T C SNP GAS2 ENST00000278187 human ensembl 74_37 +1 known silent c.219 p.T73 0.427 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2 HGNC ENSG00000148935 62 0 0 27 5 15.625 OR51E1 0 genome.wustl.edu 37 11 4674184 4674184 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 11 4674184 4674184 G A SNP OR51E1 ENST00000396952 human ensembl 74_37 +1 known missense c.428 p.R143H 0.433 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51E1 HGNC ENSG00000180785 82 0 0 76 6 7.31707 MADD 0 genome.wustl.edu 37 11 47303960 47303960 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 11 47303960 47303960 G A SNP MADD ENST00000311027 human ensembl 74_37 +1 known missense c.1498 p.A500T 0.998 pfam_dDENN_dom,smart_dDENN_dom,pfscan_dDENN_dom pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors MADD HGNC ENSG00000110514 76 0 0 37 21 36.2069 OR51B2 0 genome.wustl.edu 37 11 5345106 5345106 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 11 5345106 5345106 G A SNP OR51B2 ENST00000328813 human ensembl 74_37 -1 known missense c.422 p.A141V 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51B2 HGNC ENSG00000184881 100 0 0 17 46 73.0159 OR5M9 0 genome.wustl.edu 37 11 56230191 56230191 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 11 56230191 56230191 G A SNP OR5M9 ENST00000279791 human ensembl 74_37 -1 known silent c.687 p.A229 0.032 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M9 HGNC ENSG00000150269 9 0 0 3 5 62.5 OR9G4 0 genome.wustl.edu 37 11 56511005 56511005 + Missense_Mutation SNP T T G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 11 56511005 56511005 T G SNP OR9G4 ENST00000302957 human ensembl 74_37 -1 known missense c.283 p.K95Q 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR9G4 HGNC ENSG00000172457 94 0 0 65 4 5.7971 OR5A1 0 genome.wustl.edu 37 11 59211321 59211321 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 11 59211321 59211321 C T SNP OR5A1 ENST00000302030 human ensembl 74_37 +1 known missense c.680 p.A227V 0.961 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR5A1 HGNC ENSG00000172320 135 0 0 62 21 25.3012 MS4A1 0 genome.wustl.edu 37 11 60233509 60233509 + Missense_Mutation SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 11 60233509 60233509 G T SNP MS4A1 ENST00000345732 human ensembl 74_37 +1 known missense c.452 p.S151I 0.349 pfam_CD20-like pfam_CD20-like - no_errors MS4A1 HGNC ENSG00000156738 41 0 0 11 3 21.4286 SLC22A8 0 genome.wustl.edu 37 11 62760982 62760982 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 11 62760982 62760982 G A SNP SLC22A8 ENST00000336232 human ensembl 74_37 -1 known silent c.1443 p.T481 0.000 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A8 HGNC ENSG00000149452 126 0 0 60 48 44.4444 KCNK4 0 genome.wustl.edu 37 11 64066960 64066960 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 11 64066960 64066960 G A SNP KCNK4 ENST00000394525 human ensembl 74_37 +1 known missense c.944 p.G315D 0.000 NULL pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK4 HGNC ENSG00000182450 12 0 0 14 6 30 MRPL49 0 genome.wustl.edu 37 11 64893016 64893016 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 11 64893016 64893016 G A SNP MRPL49 ENST00000279242 human ensembl 74_37 +1 known missense c.286 p.V96I 1.000 pfam_Ribosomal_L49/IMG2 pfam_Ribosomal_L49/IMG2 - no_errors MRPL49 HGNC ENSG00000149792 115 0 0 47 47 50 EHBP1L1 0 genome.wustl.edu 37 11 65347416 65347416 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 11 65347416 65347416 G A SNP EHBP1L1 ENST00000309295 human ensembl 74_37 +1 known missense c.268 p.V90M 1.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1L1 HGNC ENSG00000173442 81 0 0 39 31 44.2857 PCNXL3 0 genome.wustl.edu 37 11 65397039 65397039 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 11 65397039 65397039 G A SNP PCNXL3 ENST00000355703 human ensembl 74_37 +1 known missense c.4049 p.R1350H 1.000 NULL pfam_Pecanex - no_errors PCNXL3 HGNC ENSG00000197136 28 0 0 14 14 50 SF3B2 0 genome.wustl.edu 37 11 65835515 65835515 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 11 65835515 65835515 C T SNP SF3B2 ENST00000322535 human ensembl 74_37 +1 known missense c.2429 p.T810M 1.000 NULL pfam_DUF382,pfam_PSP,pfam_SAP_dom,smart_SAP_dom,smart_PSP,pfscan_SAP_dom - no_errors SF3B2 HGNC ENSG00000087365 101 0 0 69 9 11.5385 PELI3 0 genome.wustl.edu 37 11 66238782 66238782 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 11 66238782 66238782 G A SNP PELI3 ENST00000320740 human ensembl 74_37 +1 known silent c.294 p.S98 0.014 pfam_Pellino_fam pfam_Pellino_fam - no_errors PELI3 HGNC ENSG00000174516 87 0 0 59 46 43.8095 DCHS1 0 genome.wustl.edu 37 11 6662451 6662451 + Nonsense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 11 6662451 6662451 G A SNP DCHS1 ENST00000299441 human ensembl 74_37 -1 known nonsense c.394 p.R132* 0.994 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 25 0 0 15 22 59.4595 MAP6 0 genome.wustl.edu 37 11 75298881 75298881 + Silent SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 11 75298881 75298881 T C SNP MAP6 ENST00000304771 human ensembl 74_37 -1 known silent c.1665 p.V555 0.000 NULL pfam_MAP6/FAM154 - no_errors MAP6 HGNC ENSG00000171533 70 0 0 40 6 13.0435 AQP11 0 genome.wustl.edu 37 11 77301362 77301362 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 11 77301362 77301362 C T SNP AQP11 ENST00000313578 human ensembl 74_37 +1 known silent c.325 p.L109 0.354 pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_11 pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_11,prints_MIP - no_errors AQP11 HGNC ENSG00000178301 84 0 0 81 8 8.98876 TENM4 0 genome.wustl.edu 37 11 78369475 78369475 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 11 78369475 78369475 G A SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known silent c.7938 p.N2646 0.773 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 37 0 0 23 24 51.0638 SBF2 0 genome.wustl.edu 37 11 9861197 9861197 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 11 9861197 9861197 G A SNP SBF2 ENST00000256190 human ensembl 74_37 -1 known silent c.3303 p.S1101 0.361 NULL pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_Pleckstrin_homology,pfam_GRAM,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF2 HGNC ENSG00000133812 90 0 0 21 35 62.5 AP2A2 0 genome.wustl.edu 37 11 988598 988598 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 11 988598 988598 A G SNP AP2A2 ENST00000332231 human ensembl 74_37 +1 known missense c.1181 p.Y394C 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A2 HGNC ENSG00000183020 203 0 0 195 15 7.14286 DRAM1 0 genome.wustl.edu 37 12 102302024 102302024 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 12 102302024 102302024 G A SNP DRAM1 ENST00000258534 human ensembl 74_37 +1 known missense c.403 p.V135M 0.000 pfam_Frag1/DRAM/Sfk1 pfam_Frag1/DRAM/Sfk1 - no_errors DRAM1 HGNC ENSG00000136048 115 0 0 89 29 24.5763 TMEM52B 0 genome.wustl.edu 37 12 10339095 10339095 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 12 10339095 10339095 C T SNP TMEM52B ENST00000381923 human ensembl 74_37 +1 known missense c.214 p.R72C 0.929 NULL NULL - no_errors TMEM52B HGNC ENSG00000165685 65 0 0 47 21 30.8824 HSP90B1 0 genome.wustl.edu 37 12 104337021 104337021 + Missense_Mutation SNP A A C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 12 104337021 104337021 A C SNP HSP90B1 ENST00000299767 human ensembl 74_37 +1 known missense c.1814 p.K605T 1.000 pirsf_Hsp90_fam,pfam_Hsp90_fam pirsf_Hsp90_fam,pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,prints_Hsp90_N - no_errors HSP90B1 HGNC ENSG00000166598 35 0 0 23 3 11.5385 KIAA1033 0 genome.wustl.edu 37 12 105514941 105514941 + Silent SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 12 105514941 105514941 T C SNP KIAA1033 ENST00000332180 human ensembl 74_37 +1 known silent c.624 p.D208 0.987 NULL NULL - no_errors KIAA1033 HGNC ENSG00000136051 72 0 0 27 4 12.9032 SART3 0 genome.wustl.edu 37 12 108926011 108926011 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 12 108926011 108926011 C T SNP SART3 ENST00000228284 human ensembl 74_37 -1 known missense c.1656 p.M552I 1.000 NULL pfam_RRM_dom,pfam_LSM_interact,smart_HAT,smart_RRM_dom,pfscan_RRM_dom - no_errors SART3 HGNC ENSG00000075856 68 0 0 49 5 9.25926 ANKRD13A 0 genome.wustl.edu 37 12 110475232 110475232 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 12 110475232 110475232 G A SNP ANKRD13A ENST00000261739 human ensembl 74_37 +1 known missense c.1646 p.R549H 0.167 smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif - no_errors ANKRD13A HGNC ENSG00000076513 87 0 0 54 24 30.7692 TBX5 0 genome.wustl.edu 37 12 114793660 114793660 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 12 114793660 114793660 C T SNP TBX5 ENST00000310346 human ensembl 74_37 -1 known missense c.1234 p.V412I 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX5 HGNC ENSG00000089225 54 0 0 52 14 21.2121 ETV6 0 genome.wustl.edu 37 12 12022435 12022435 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 12 12022435 12022435 C T SNP ETV6 ENST00000396373 human ensembl 74_37 +1 known missense c.541 p.R181C 1.000 NULL pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ETV6 HGNC ENSG00000139083 267 0 0 197 66 25.0951 SIRT4 0 genome.wustl.edu 37 12 120741725 120741725 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 12 120741725 120741725 C T SNP SIRT4 ENST00000202967 human ensembl 74_37 +1 known missense c.361 p.P121S 1.000 pfam_Sirtuin,pfscan_Ssirtuin_cat_dom pfam_Sirtuin,pfscan_Ssirtuin_cat_dom - no_errors SIRT4 HGNC ENSG00000089163 29 0 0 19 15 44.1176 MLXIP 0 genome.wustl.edu 37 12 122613694 122613694 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 12 122613694 122613694 C T SNP MLXIP ENST00000319080 human ensembl 74_37 +1 known missense c.617 p.T206M 0.984 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MLXIP HGNC ENSG00000175727 17 0 0 15 6 28.5714 PITPNM2 0 genome.wustl.edu 37 12 123497265 123497265 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 12 123497265 123497265 C T SNP PITPNM2 ENST00000320201 human ensembl 74_37 -1 known missense c.310 p.V104M 1.000 pfam_PI_transfer,prints_PI_transfer pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM2 HGNC ENSG00000090975 144 0 0 114 9 7.31707 RILPL1 0 genome.wustl.edu 37 12 123970232 123970232 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 12 123970232 123970232 C T SNP RILPL1 ENST00000376874 human ensembl 74_37 -1 known missense c.922 p.E308K 1.000 pfam_RILP pfam_JNK/Rab-associated_protein-1_N,pfam_RILP - no_errors RILPL1 HGNC ENSG00000188026 47 0 0 29 13 30.9524 DNAH10 0 genome.wustl.edu 37 12 124414289 124414289 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 12 124414289 124414289 A G SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.12241 p.K4081E 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 22 0 0 13 8 38.0952 NCOR2 0 genome.wustl.edu 37 12 124862900 124862900 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 12 124862900 124862900 T C SNP NCOR2 ENST00000356219 human ensembl 74_37 -1 known missense c.2050 p.K684E 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 25 0 0 16 6 27.2727 NCOR2 0 genome.wustl.edu 37 12 124911228 124911228 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 12 124911228 124911228 T C SNP NCOR2 ENST00000356219 human ensembl 74_37 -1 known missense c.1268 p.Y423C 1.000 superfamily_Homeodomain-like pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 54 0 0 41 14 25.4545 EP400 0 genome.wustl.edu 37 12 132510235 132510235 + Nonsense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 12 132510235 132510235 C T SNP EP400 ENST00000333577 human ensembl 74_37 +1 known nonsense c.5008 p.R1670* 1.000 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 44 0 0 32 13 28.8889 EP400 0 genome.wustl.edu 37 12 132514266 132514266 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 12 132514266 132514266 C T SNP EP400 ENST00000333577 human ensembl 74_37 +1 known missense c.5510 p.P1837L 0.948 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 72 0 0 53 22 29.3333 GSG1 0 genome.wustl.edu 37 12 13256440 13256440 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 12 13256440 13256440 C T SNP GSG1 ENST00000324458 human ensembl 74_37 -1 known missense c.7 p.D3N 0.105 NULL pfam_GSG-1 - no_errors GSG1 HGNC ENSG00000111305 215 0 0 109 32 22.695 PLBD1 0 genome.wustl.edu 37 12 14688687 14688687 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 12 14688687 14688687 C T SNP PLBD1 ENST00000240617 human ensembl 74_37 -1 known silent c.750 p.T250 0.000 pfam_PLipase_B-like pfam_PLipase_B-like - no_errors PLBD1 HGNC ENSG00000121316 95 0 0 51 13 20.3125 GUCY2C 0 genome.wustl.edu 37 12 14825885 14825885 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 12 14825885 14825885 G A SNP GUCY2C ENST00000261170 human ensembl 74_37 -1 known silent c.1092 p.D364 0.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_A/G_cyclase,superfamily_Peripla_BP_I,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors GUCY2C HGNC ENSG00000070019 112 0 0 64 23 26.4368 RECQL 0 genome.wustl.edu 37 12 21639508 21639508 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 12 21639508 21639508 C T SNP RECQL ENST00000421138 human ensembl 74_37 -1 known missense c.406 p.V136I 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_RQC_domain,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL HGNC ENSG00000004700 39 0 0 5 6 54.5455 CACNA1C 0 genome.wustl.edu 37 12 2659185 2659185 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 12 2659185 2659185 C T SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known silent c.1467 p.C489 0.998 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 17 0 0 9 4 30.7692 ARNTL2 0 genome.wustl.edu 37 12 27543174 27543174 + Splice_Site SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 12 27543174 27543174 T C SNP ARNTL2 ENST00000266503 human ensembl 74_37 +1 known splice_site c.919+2 e9+2 0.952 - - - no_errors ARNTL2 HGNC ENSG00000029153 46 0 0 14 6 30 PTHLH 0 genome.wustl.edu 37 12 28116577 28116577 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 12 28116577 28116577 C T SNP PTHLH ENST00000354417 human ensembl 74_37 -1 known silent c.228 p.S76 0.988 pfam_PTH/PTH-rel pfam_PTH/PTH-rel,smart_PTH/PTH-rel - no_errors PTHLH HGNC ENSG00000087494 172 0 0 132 13 8.96552 CCDC91 0 genome.wustl.edu 37 12 28603309 28603309 + Missense_Mutation SNP A A C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 12 28603309 28603309 A C SNP CCDC91 ENST00000381259 human ensembl 74_37 +1 known missense c.882 p.E294D 1.000 NULL NULL - no_errors CCDC91 HGNC ENSG00000123106 145 0 0 46 14 23.3333 BICD1 0 genome.wustl.edu 37 12 32480566 32480566 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 12 32480566 32480566 G A SNP BICD1 ENST00000281474 human ensembl 74_37 +1 known missense c.1177 p.G393R 0.534 pfam_Bicaudal-D_microtubule-assoc pfam_Bicaudal-D_microtubule-assoc,superfamily_SPOC_like_C_dom - no_errors BICD1 HGNC ENSG00000151746 25 0 0 29 8 21.6216 HDAC7 0 genome.wustl.edu 37 12 48189159 48189159 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 12 48189159 48189159 G A SNP HDAC7 ENST00000380610 human ensembl 74_37 -1 known silent c.1143 p.P381 0.033 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC7 HGNC ENSG00000061273 12 0 0 2 2 50 COL2A1 0 genome.wustl.edu 37 12 48379540 48379540 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 12 48379540 48379540 G A SNP COL2A1 ENST00000380518 human ensembl 74_37 -1 known missense c.1651 p.P551S 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL2A1 HGNC ENSG00000139219 21 0 0 17 3 15 C12orf54 0 genome.wustl.edu 37 12 48881808 48881808 + RNA SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 12 48881808 48881808 G A SNP C12orf54 ENST00000548913 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors C12orf54 HGNC ENSG00000177627 26 0 0 16 8 33.3333 FKBP11 0 genome.wustl.edu 37 12 49318420 49318420 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 12 49318420 49318420 T C SNP FKBP11 ENST00000256680 human ensembl 74_37 -1 known missense c.262 p.R88G 0.995 NULL NULL - no_errors FKBP11 HGNC ENSG00000134285 56 0 0 41 16 28.0702 NCKAP5L 0 genome.wustl.edu 37 12 50196893 50196893 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 12 50196893 50196893 C T SNP NCKAP5L ENST00000335999 human ensembl 74_37 -1 known missense c.179 p.R60H 1.000 NULL NULL - no_errors NCKAP5L HGNC ENSG00000167566 115 0 0 85 26 23.4234 KCNA5 0 genome.wustl.edu 37 12 5154231 5154231 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 12 5154231 5154231 G A SNP KCNA5 ENST00000252321 human ensembl 74_37 +1 known silent c.918 p.P306 0.000 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA5 HGNC ENSG00000130037 67 0 0 49 16 24.6154 KRT121P 0 genome.wustl.edu 37 12 52647383 52647383 + Splice_Site SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 12 52647383 52647383 A G SNP KRT121P ENST00000529785 human ensembl 74_37 -1 known splice_site c.NULL NULL 1.000 - - - no_errors KRT121P HGNC ENSG00000135477 41 0 0 35 12 25.5319 KRT85 0 genome.wustl.edu 37 12 52754649 52754649 + Silent SNP G G C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 12 52754649 52754649 G C SNP KRT85 ENST00000257901 human ensembl 74_37 -1 known silent c.1512 p.V504 0.335 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT85 HGNC ENSG00000135443 103 0 0 74 14 15.9091 KRT76 0 genome.wustl.edu 37 12 53170983 53170983 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 12 53170983 53170983 G A SNP KRT76 ENST00000332411 human ensembl 74_37 -1 known silent c.93 p.S31 0.031 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT76 HGNC ENSG00000185069 72 0 0 48 20 29.4118 KRT78 0 genome.wustl.edu 37 12 53233706 53233706 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 12 53233706 53233706 G A SNP KRT78 ENST00000304620 human ensembl 74_37 -1 known silent c.1110 p.D370 0.992 pfam_IF,superfamily_Prefoldin,prints_Keratin_II pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT78 HGNC ENSG00000170423 51 0 0 50 22 30.5556 KRT8 0 genome.wustl.edu 37 12 53292586 53292586 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 12 53292586 53292586 A G SNP KRT8 ENST00000293308 human ensembl 74_37 -1 known missense c.1079 p.L360P 1.000 pfam_IF,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT8 HGNC ENSG00000170421 99 0 0 111 14 11.2 OR6C75 0 genome.wustl.edu 37 12 55759783 55759783 + Missense_Mutation SNP C C A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 12 55759783 55759783 C A SNP OR6C75 ENST00000343399 human ensembl 74_37 +1 known missense c.889 p.Q297K 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C75 HGNC ENSG00000187857 60 0 0 28 2 6.66667 LRP1 0 genome.wustl.edu 37 12 57556275 57556275 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 12 57556275 57556275 G A SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known missense c.2378 p.R793Q 1.000 NULL pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 59 0 0 49 16 24.6154 KIF5A 0 genome.wustl.edu 37 12 57963882 57963882 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 12 57963882 57963882 G A SNP KIF5A ENST00000455537 human ensembl 74_37 +1 known silent c.1230 p.A410 0.079 superfamily_P-loop_NTPase pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5A HGNC ENSG00000155980 30 0 0 16 11 40.7407 B4GALNT3 0 genome.wustl.edu 37 12 665815 665815 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 12 665815 665815 C T SNP B4GALNT3 ENST00000266383 human ensembl 74_37 +1 known silent c.2163 p.R721 0.178 pfam_Chond_GalNAc pfam_PA14,pfam_Chond_GalNAc,smart_PA14 - no_errors B4GALNT3 HGNC ENSG00000139044 46 0 0 39 14 26.4151 GPR162 0 genome.wustl.edu 37 12 6933561 6933561 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 12 6933561 6933561 G A SNP GPR162 ENST00000311268 human ensembl 74_37 +1 known missense c.497 p.R166H 0.990 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR162,prints_GCR_153/162 - no_errors GPR162 HGNC ENSG00000250510 37 0 0 51 8 13.5593 BEST3 0 genome.wustl.edu 37 12 70091427 70091427 + Missense_Mutation SNP C C A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 12 70091427 70091427 C A SNP BEST3 ENST00000330891 human ensembl 74_37 -1 known missense c.152 p.R51I 1.000 pfam_Bestrophin/UPF0187 pfam_Bestrophin/UPF0187 - no_errors BEST3 HGNC ENSG00000127325 61 0 0 15 7 31.8182 EPYC 0 genome.wustl.edu 37 12 91357958 91357958 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 12 91357958 91357958 C T SNP EPYC ENST00000261172 human ensembl 74_37 -1 known missense c.944 p.R315H 1.000 NULL pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors EPYC HGNC ENSG00000083782 98 0 0 46 15 24.5902 A2M 0 genome.wustl.edu 37 12 9243798 9243798 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 12 9243798 9243798 C T SNP A2M ENST00000318602 human ensembl 74_37 -1 known missense c.2468 p.R823Q 0.988 pfam_Macroglobln_a2 pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin - no_errors A2M HGNC ENSG00000175899 39 0 0 17 13 43.3333 TMPO 0 genome.wustl.edu 37 12 98926791 98926791 + Silent SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 12 98926791 98926791 T C SNP TMPO ENST00000266732 human ensembl 74_37 +1 known silent c.756 p.P252 1.000 NULL pfam_LAP2alpha,pfam_LEM-like_dom,pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom,pfscan_LEM-like_dom - no_errors TMPO HGNC ENSG00000120802 111 0 0 37 18 32.7273 BIVM 0 genome.wustl.edu 37 13 103459886 103459886 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 13 103459886 103459886 G A SNP BIVM ENST00000257336 human ensembl 74_37 +1 known missense c.269 p.R90H 0.260 NULL NULL - no_errors BIVM HGNC ENSG00000134897 101 0 0 48 19 28.3582 LIG4 0 genome.wustl.edu 37 13 108862197 108862197 + Nonsense_Mutation SNP C C A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 13 108862197 108862197 C A SNP LIG4 ENST00000356922 human ensembl 74_37 -1 known nonsense c.1420 p.G474* 1.000 superfamily_NA-bd_OB-fold,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_IV,pfam_BRCT_dom,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG4 HGNC ENSG00000174405 351 1 0.284091 129 42 24.5614 SOX1 0 genome.wustl.edu 37 13 112722294 112722294 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 13 112722294 112722294 C T SNP SOX1 ENST00000330949 human ensembl 74_37 +1 known missense c.322 p.R108C 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX1 HGNC ENSG00000182968 32 0 0 25 8 24.2424 GAS6 0 genome.wustl.edu 37 13 114535425 114535425 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 13 114535425 114535425 G A SNP GAS6 ENST00000357389 human ensembl 74_37 -1 known silent c.1119 p.P373 0.999 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors GAS6 HGNC ENSG00000183087 67 0 0 56 13 18.8406 TPTE2 0 genome.wustl.edu 37 13 20056687 20056687 + Missense_Mutation SNP A A T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 13 20056687 20056687 A T SNP TPTE2 ENST00000382977 human ensembl 74_37 -1 known missense c.120 p.S40R 0.000 NULL pfam_Tensin_phosphatase_C2-dom,pfam_Ion_trans_dom,pfam_Dual-sp_phosphatase_cat-dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE2 HGNC ENSG00000132958 34 0 0 20 3 13.0435 PARP4 0 genome.wustl.edu 37 13 25060357 25060357 + Missense_Mutation SNP C C A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 13 25060357 25060357 C A SNP PARP4 ENST00000381989 human ensembl 74_37 -1 known missense c.1301 p.R434M 0.003 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP4 HGNC ENSG00000102699 43 0 0 46 6 11.5385 FLT1 0 genome.wustl.edu 37 13 28877424 28877424 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 13 28877424 28877424 G A SNP FLT1 ENST00000282397 human ensembl 74_37 -1 known silent c.3897 p.H1299 0.058 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR1_rcpt - no_errors FLT1 HGNC ENSG00000102755 89 0 0 68 26 27.6596 KBTBD6 0 genome.wustl.edu 37 13 41705366 41705366 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 13 41705366 41705366 T C SNP KBTBD6 ENST00000379485 human ensembl 74_37 -1 known missense c.1282 p.M428V 1.000 pfam_Kelch_1 pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KBTBD6 HGNC ENSG00000165572 128 0 0 106 10 8.62069 RCBTB2 0 genome.wustl.edu 37 13 49089783 49089783 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 13 49089783 49089783 C T SNP RCBTB2 ENST00000430805 human ensembl 74_37 -1 known missense c.152 p.R51H 1.000 NULL pfam_Reg_chr_condens,pfam_BTB_POZ,superfamily_RCC1/BLIP-II,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RCBTB2 HGNC ENSG00000136161 94 0 0 38 11 22.449 LMO7 0 genome.wustl.edu 37 13 76397791 76397791 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 13 76397791 76397791 G A SNP LMO7 ENST00000357063 human ensembl 74_37 +1 known missense c.2887 p.A963T 0.000 NULL pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin - no_errors LMO7 HGNC ENSG00000136153 94 0 0 67 21 23.8636 NUDT14 0 genome.wustl.edu 37 14 105642869 105642869 + Splice_Site SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 14 105642869 105642869 A G SNP NUDT14 ENST00000392568 human ensembl 74_37 -1 known splice_site c.428+2 e4+2 1.000 - - - no_errors NUDT14 HGNC ENSG00000183828 49 0 0 51 6 10.5263 RNASE10 0 genome.wustl.edu 37 14 20978638 20978638 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 14 20978638 20978638 T C SNP RNASE10 ENST00000328444 human ensembl 74_37 +1 known missense c.8 p.L3P 0.989 NULL pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA - no_errors RNASE10 HGNC ENSG00000182545 100 1 0.990099 74 5 6.32911 ARHGEF40 0 genome.wustl.edu 37 14 21542131 21542131 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 14 21542131 21542131 C T SNP ARHGEF40 ENST00000298694 human ensembl 74_37 +1 known missense c.242 p.P81L 1.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF40 HGNC ENSG00000165801 109 0 0 80 23 22.3301 ARHGEF40 0 genome.wustl.edu 37 14 21544719 21544719 + Nonstop_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 14 21544719 21544719 T C SNP ARHGEF40 ENST00000553709 human ensembl 74_37 +1 known nonstop c.1861 p.*621Q 0.263 NULL NULL - no_errors ARHGEF40 HGNC ENSG00000165801 168 0 0 94 38 28.7879 CHD8 0 genome.wustl.edu 37 14 21897334 21897334 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 14 21897334 21897334 G A SNP CHD8 ENST00000399982 human ensembl 74_37 -1 known missense c.1004 p.A335V 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD8 HGNC ENSG00000100888 61 0 0 60 5 7.69231 TGM1 0 genome.wustl.edu 37 14 24730998 24730998 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 14 24730998 24730998 G A SNP TGM1 ENST00000206765 human ensembl 74_37 -1 known silent c.411 p.D137 0.001 pfam_Transglutaminase_N,superfamily_Ig_E-set pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM1 HGNC ENSG00000092295 101 0 0 91 46 33.5766 RABGGTA 0 genome.wustl.edu 37 14 24737783 24737783 + Nonsense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 14 24737783 24737783 G A SNP RABGGTA ENST00000216840 human ensembl 74_37 -1 known nonsense c.943 p.Q315* 1.000 pfam_RabGGT_asu_insert-domain,superfamily_RabGGT_asu_insert-domain pfam_Prenyl_trans_a,pfam_RabGGT_asu_insert-domain,pfam_Leu-rich_rpt,superfamily_RabGGT_asu_insert-domain,pfscan_Prenyl_trans_a - no_errors RABGGTA HGNC ENSG00000100949 107 0 0 93 6 6.06061 DHRS1 0 genome.wustl.edu 37 14 24760357 24760357 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 14 24760357 24760357 G A SNP DHRS1 ENST00000288111 human ensembl 74_37 -1 known missense c.793 p.R265W 0.171 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DHB_DH - no_errors DHRS1 HGNC ENSG00000157379 62 0 0 45 16 26.2295 BAZ1A 0 genome.wustl.edu 37 14 35272177 35272177 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 14 35272177 35272177 C T SNP BAZ1A ENST00000360310 human ensembl 74_37 -1 known silent c.744 p.T248 1.000 NULL pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1A HGNC ENSG00000198604 73 0 0 21 11 34.375 RPL10L 0 genome.wustl.edu 37 14 47120831 47120831 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 14 47120831 47120831 C T SNP RPL10L ENST00000298283 human ensembl 74_37 -1 known missense c.109 p.G37S 1.000 pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e - no_errors RPL10L HGNC ENSG00000165496 85 0 0 61 28 31.4607 GNG2 0 genome.wustl.edu 37 14 52433450 52433450 + RNA SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 14 52433450 52433450 G A SNP GNG2 ENST00000553299 human ensembl 74_37 +1 known rna NULL NULL 0.994 - - - no_errors GNG2 HGNC ENSG00000186469 46 0 0 20 7 25.9259 TRMT5 0 genome.wustl.edu 37 14 61446529 61446529 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 14 61446529 61446529 C T SNP TRMT5 ENST00000261249 human ensembl 74_37 -1 known silent c.87 p.S29 0.000 NULL pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors TRMT5 HGNC ENSG00000126814 76 0 0 36 4 10 SYT16 0 genome.wustl.edu 37 14 62551036 62551036 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 14 62551036 62551036 G A SNP SYT16 ENST00000430451 human ensembl 74_37 +1 novel silent c.1557 p.T519 0.977 superfamily_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYT16 HGNC ENSG00000139973 60 0 0 41 14 25.4545 SYNE2 0 genome.wustl.edu 37 14 64688370 64688370 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 14 64688370 64688370 C T SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.20138 p.T6713I 0.000 smart_Spectrin/alpha-actinin pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 134 0 0 98 18 15.5172 ESR2 0 genome.wustl.edu 37 14 64727249 64727249 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 14 64727249 64727249 G A SNP ESR2 ENST00000341099 human ensembl 74_37 -1 known silent c.870 p.T290 0.814 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Estrogen_rcpt_beta_N,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors ESR2 HGNC ENSG00000140009 126 0 0 77 34 30.6306 RDH11 0 genome.wustl.edu 37 14 68157059 68157059 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 14 68157059 68157059 G A SNP RDH11 ENST00000554731 human ensembl 74_37 -1 known missense c.154 p.R52C 0.946 NULL NULL - no_errors RDH11 HGNC ENSG00000072042 115 0 0 71 10 12.3457 DCAF5 0 genome.wustl.edu 37 14 69522046 69522046 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 14 69522046 69522046 G A SNP DCAF5 ENST00000341516 human ensembl 74_37 -1 known missense c.1357 p.R453C 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF5 HGNC ENSG00000139990 32 0 0 32 9 21.9512 EXD2 0 genome.wustl.edu 37 14 69704633 69704633 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 14 69704633 69704633 C T SNP EXD2 ENST00000312994 human ensembl 74_37 +1 known missense c.1634 p.A545V 1.000 NULL pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom - no_errors EXD2 HGNC ENSG00000081177 41 0 0 24 5 17.2414 GALNT16 0 genome.wustl.edu 37 14 69795188 69795188 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 14 69795188 69795188 G A SNP GALNT16 ENST00000337827 human ensembl 74_37 +1 known missense c.590 p.R197H 0.950 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT16 HGNC ENSG00000100626 174 0 0 135 25 15.625 PAPLN 0 genome.wustl.edu 37 14 73717688 73717688 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 14 73717688 73717688 C T SNP PAPLN ENST00000427855 human ensembl 74_37 +1 known missense c.539 p.T180M 0.009 prints_Peptidase_M12B_ADAM-TS pfam_Ig_I-set,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_inh_Kunz-m,pfam_PLAC,superfamily_Prot_inh_Kunz-m,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Prot_inh_Kunz-m,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS,prints_Prot_inh_Kunz-m - no_errors PAPLN HGNC ENSG00000100767 118 1 0.840336 85 13 13.2653 ELMSAN1 0 genome.wustl.edu 37 14 74189532 74189532 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 14 74189532 74189532 C T SNP ELMSAN1 ENST00000286523 human ensembl 74_37 -1 known missense c.2593 p.A865T 1.000 superfamily_Homeodomain-like,smart_SANT/Myb pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors ELMSAN1 HGNC ENSG00000156030 226 0 0 129 18 12.2449 ABCD4 0 genome.wustl.edu 37 14 74756786 74756786 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 14 74756786 74756786 C T SNP ABCD4 ENST00000356924 human ensembl 74_37 -1 known missense c.1363 p.G455R 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_Peroxi_TM,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCD4 HGNC ENSG00000119688 60 0 0 53 7 11.6667 NEK9 0 genome.wustl.edu 37 14 75563944 75563944 + Missense_Mutation SNP C C A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 14 75563944 75563944 C A SNP NEK9 ENST00000238616 human ensembl 74_37 -1 known missense c.2032 p.G678C 1.000 superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Prot_kinase_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_RCC1/BLIP-II,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK9 HGNC ENSG00000119638 32 0 0 26 2 7.14286 NGB 0 genome.wustl.edu 37 14 77737252 77737252 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 14 77737252 77737252 C T SNP NGB ENST00000298352 human ensembl 74_37 -1 known missense c.29 p.R10Q 1.000 pfam_Globin,superfamily_Globin-like,pfscan_Globin pfam_Globin,superfamily_Globin-like,pfscan_Globin - no_errors NGB HGNC ENSG00000165553 15 0 0 12 5 29.4118 TSHR 0 genome.wustl.edu 37 14 81610125 81610125 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 14 81610125 81610125 G A SNP TSHR ENST00000298171 human ensembl 74_37 +1 known missense c.1723 p.E575K 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_TSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_FSH_rcpt,prints_LSH_rcpt - no_errors TSHR HGNC ENSG00000165409 231 0 0 107 52 32.7044 ENSG00000258983 0 genome.wustl.edu 37 14 88967245 88967245 + RNA SNP C C A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 14 88967245 88967245 C A SNP ENSG00000258983 ENST00000555444 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors RP11-507K2.2 Clone_based_vega_gene ENSG00000258983 39 0 0 16 10 38.4615 SLC24A4 0 genome.wustl.edu 37 14 92909751 92909751 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 14 92909751 92909751 G A SNP SLC24A4 ENST00000532405 human ensembl 74_37 +1 known missense c.590 p.R197H 0.001 pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A4 HGNC ENSG00000140090 58 0 0 32 13 28.8889 BTBD7 0 genome.wustl.edu 37 14 93717896 93717896 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 14 93717896 93717896 C T SNP BTBD7 ENST00000334746 human ensembl 74_37 -1 known missense c.1855 p.V619M 0.985 NULL pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD7 HGNC ENSG00000011114 270 0 0 101 64 38.7879 DICER1 0 genome.wustl.edu 37 14 95562462 95562462 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 14 95562462 95562462 G A SNP DICER1 ENST00000343455 human ensembl 74_37 -1 known missense c.4795 p.R1599W 0.692 superfamily_RNase_III_dom pfam_RNase_III_dom,pfam_PAZ_dom,pfam_Dicer_dimerisation_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_P-loop_NTPase,superfamily_PAZ_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_PAZ_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom - no_errors DICER1 HGNC ENSG00000100697 254 2 0.78125 104 54 34.1772 BCL11B 0 genome.wustl.edu 37 14 99641154 99641154 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 14 99641154 99641154 G A SNP BCL11B ENST00000357195 human ensembl 74_37 -1 known silent c.2019 p.P673 0.901 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11B HGNC ENSG00000127152 12 0 0 13 4 23.5294 DNM1P47 0 genome.wustl.edu 37 15 102303352 102303352 + RNA SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 15 102303352 102303352 G A SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 0.825 - - - no_errors DNM1P47 HGNC ENSG00000259660 21 0 0 22 5 18.5185 DNM1P47 0 genome.wustl.edu 37 15 102304772 102304772 + RNA SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 15 102304772 102304772 T C SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 0.984 - - - no_errors DNM1P47 HGNC ENSG00000259660 21 0 0 19 3 13.6364 SNORD116-2 0 genome.wustl.edu 37 15 25299361 25299361 + RNA SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 15 25299361 25299361 C T SNP SNORD116-2 ENST00000384274 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SNORD116-2 HGNC ENSG00000207001 142 0 0 75 11 12.7907 SNHG14 0 genome.wustl.edu 37 15 25438443 25438443 + RNA SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 15 25438443 25438443 C T SNP SNHG14 ENST00000414175 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 183 0 0 140 12 7.89474 ATP10A 0 genome.wustl.edu 37 15 25958953 25958953 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 15 25958953 25958953 G A SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known missense c.2212 p.H738Y 1.000 superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10A HGNC ENSG00000206190 97 0 0 55 18 24.6575 RYR3 0 genome.wustl.edu 37 15 33835850 33835850 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 15 33835850 33835850 G A SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.674 p.R225H 1.000 pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 197 0 0 63 14 18.1818 CHRM5 0 genome.wustl.edu 37 15 34355212 34355212 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 15 34355212 34355212 C T SNP CHRM5 ENST00000383263 human ensembl 74_37 +1 known silent c.294 p.L98 0.056 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M5_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM5 HGNC ENSG00000184984 25 0 0 12 10 45.4545 AQR 0 genome.wustl.edu 37 15 35166929 35166929 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 15 35166929 35166929 C T SNP AQR ENST00000156471 human ensembl 74_37 -1 known missense c.3374 p.R1125H 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors AQR HGNC ENSG00000021776 82 0 0 36 12 25 BMF 0 genome.wustl.edu 37 15 40384006 40384006 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 15 40384006 40384006 G A SNP BMF ENST00000220446 human ensembl 74_37 -1 known missense c.376 p.R126W 0.034 NULL NULL - no_errors BMF HGNC ENSG00000104081 18 0 0 6 5 45.4545 VPS39 0 genome.wustl.edu 37 15 42476844 42476844 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 15 42476844 42476844 G A SNP VPS39 ENST00000348544 human ensembl 74_37 -1 known missense c.622 p.P208S 1.000 pfam_Citron,superfamily_WD40_repeat_dom,smart_Citron pfam_Citron,pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,smart_Citron - no_errors VPS39 HGNC ENSG00000166887 189 0 0 81 45 35.7143 TGM7 0 genome.wustl.edu 37 15 43568714 43568714 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 15 43568714 43568714 T C SNP TGM7 ENST00000452443 human ensembl 74_37 -1 known missense c.2072 p.N691S 0.991 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM7 HGNC ENSG00000159495 131 0 0 131 28 17.6101 HDC 0 genome.wustl.edu 37 15 50535106 50535106 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 15 50535106 50535106 C T SNP HDC ENST00000267845 human ensembl 74_37 -1 known missense c.1340 p.R447H 1.000 superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase,prints_Aromatic_deC - no_errors HDC HGNC ENSG00000140287 45 0 0 29 6 17.1429 MYO5C 0 genome.wustl.edu 37 15 52553183 52553183 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 15 52553183 52553183 C T SNP MYO5C ENST00000261839 human ensembl 74_37 -1 known missense c.1189 p.A397T 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5C HGNC ENSG00000128833 75 0 0 56 8 12.5 RFX7 0 genome.wustl.edu 37 15 56385659 56385659 + Missense_Mutation SNP A A T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 15 56385659 56385659 A T SNP RFX7 ENST00000423270 human ensembl 74_37 -1 known missense c.4267 p.L1423I 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX7 HGNC ENSG00000181827 30 0 0 18 2 10 NARG2 0 genome.wustl.edu 37 15 60741590 60741590 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 15 60741590 60741590 T C SNP NARG2 ENST00000261520 human ensembl 74_37 -1 known missense c.1576 p.N526D 0.000 NULL pfam_NARG2_C - no_errors NARG2 HGNC ENSG00000128915 45 0 0 14 6 30 VPS13C 0 genome.wustl.edu 37 15 62165447 62165447 + Nonsense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 15 62165447 62165447 G A SNP VPS13C ENST00000261517 human ensembl 74_37 -1 known nonsense c.10576 p.R3526* 1.000 pfam_Autophagy-rel_C pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 153 0 0 60 20 25 HERC1 0 genome.wustl.edu 37 15 63944642 63944642 + Silent SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 15 63944642 63944642 T C SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known silent c.10389 p.S3463 0.937 superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 27 0 0 11 3 21.4286 ZNF609 0 genome.wustl.edu 37 15 64967943 64967943 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 15 64967943 64967943 C T SNP ZNF609 ENST00000326648 human ensembl 74_37 +1 known missense c.2890 p.R964C 1.000 NULL pfscan_Znf_C2H2 - no_errors ZNF609 HGNC ENSG00000180357 179 0 0 132 7 5.03597 IGDCC4 0 genome.wustl.edu 37 15 65684597 65684597 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 15 65684597 65684597 C T SNP IGDCC4 ENST00000352385 human ensembl 74_37 -1 novel missense c.1997 p.R666Q 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGDCC4 HGNC ENSG00000103742 59 0 0 49 8 14.0351 TMEM202 0 genome.wustl.edu 37 15 72691047 72691047 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 15 72691047 72691047 G A SNP TMEM202 ENST00000341689 human ensembl 74_37 +1 known silent c.135 p.Q45 0.018 NULL NULL - no_errors TMEM202 HGNC ENSG00000187806 68 0 0 39 5 11.3636 STRA6 0 genome.wustl.edu 37 15 74481567 74481567 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 15 74481567 74481567 C T SNP STRA6 ENST00000563965 human ensembl 74_37 -1 known missense c.1096 p.A366T 0.991 NULL NULL - no_errors STRA6 HGNC ENSG00000137868 17 0 0 14 5 26.3158 CYP11A1 0 genome.wustl.edu 37 15 74636145 74636145 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 15 74636145 74636145 C T SNP CYP11A1 ENST00000268053 human ensembl 74_37 -1 known missense c.814 p.V272M 0.002 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_mitochondrial,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP11A1 HGNC ENSG00000140459 176 0 0 103 48 31.7881 CYP1A1 0 genome.wustl.edu 37 15 75014057 75014057 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 15 75014057 75014057 C T SNP CYP1A1 ENST00000379727 human ensembl 74_37 -1 known missense c.827 p.G276D 0.981 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP1,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP1A1 HGNC ENSG00000140465 63 0 0 66 4 5.71429 CSK 0 genome.wustl.edu 37 15 75094810 75094810 + Nonsense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 15 75094810 75094810 C T SNP CSK ENST00000220003 human ensembl 74_37 +1 known nonsense c.1309 p.R437* 0.742 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors CSK HGNC ENSG00000103653 102 0 0 89 13 12.7451 ADAMTS7 0 genome.wustl.edu 37 15 79069818 79069818 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 15 79069818 79069818 C T SNP ADAMTS7 ENST00000388820 human ensembl 74_37 -1 known missense c.1435 p.G479R 0.999 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS7 HGNC ENSG00000136378 24 0 0 20 4 16.6667 ADAMTS7 0 genome.wustl.edu 37 15 79083560 79083560 + Silent SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 15 79083560 79083560 A G SNP ADAMTS7 ENST00000388820 human ensembl 74_37 -1 known silent c.825 p.A275 0.369 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS7 HGNC ENSG00000136378 70 0 0 61 7 10.2941 KIAA1024 0 genome.wustl.edu 37 15 79749949 79749949 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 15 79749949 79749949 G A SNP KIAA1024 ENST00000305428 human ensembl 74_37 +1 known missense c.1460 p.C487Y 0.435 NULL pfam_UPF0258 - no_errors KIAA1024 HGNC ENSG00000169330 34 0 0 13 7 35 ARNT2 0 genome.wustl.edu 37 15 80800575 80800575 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 15 80800575 80800575 G A SNP ARNT2 ENST00000303329 human ensembl 74_37 +1 known missense c.701 p.R234Q 0.903 pfam_PAS_fold,superfamily_PAS,prints_Nuc_translocat pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom,prints_Nuc_translocat,tigrfam_PAS - no_errors ARNT2 HGNC ENSG00000172379 77 0 0 39 23 37.0968 AP3B2 0 genome.wustl.edu 37 15 83332368 83332368 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 15 83332368 83332368 G A SNP AP3B2 ENST00000261722 human ensembl 74_37 -1 known missense c.2384 p.P795L 1.000 pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta - no_errors AP3B2 HGNC ENSG00000103723 57 0 0 33 11 25 WHAMM 0 genome.wustl.edu 37 15 83478511 83478511 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 15 83478511 83478511 C T SNP WHAMM ENST00000286760 human ensembl 74_37 +1 known silent c.33 p.G11 1.000 NULL superfamily_tRNA-bd_arm,pfscan_WH2_dom - no_errors WHAMM HGNC ENSG00000156232 14 0 0 11 3 21.4286 ZSCAN2 0 genome.wustl.edu 37 15 85147391 85147391 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 15 85147391 85147391 G A SNP ZSCAN2 ENST00000448803 human ensembl 74_37 +1 known missense c.233 p.G78D 0.733 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN2 HGNC ENSG00000176371 33 0 0 13 7 35 HAPLN3 0 genome.wustl.edu 37 15 89422314 89422314 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 15 89422314 89422314 A G SNP HAPLN3 ENST00000359595 human ensembl 74_37 -1 known missense c.680 p.M227T 0.915 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_Link pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like_dom,prints_Link - no_errors HAPLN3 HGNC ENSG00000140511 12 0 0 12 6 33.3333 RHCG 0 genome.wustl.edu 37 15 90023598 90023598 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 15 90023598 90023598 G A SNP RHCG ENST00000268122 human ensembl 74_37 -1 known silent c.564 p.G188 0.077 pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD - no_errors RHCG HGNC ENSG00000140519 118 1 0.840336 75 27 26.4706 IQGAP1 0 genome.wustl.edu 37 15 91027453 91027453 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 15 91027453 91027453 C T SNP IQGAP1 ENST00000268182 human ensembl 74_37 +1 known missense c.3790 p.R1264W 1.000 superfamily_Rho_GTPase_activation_prot,smart_RasGAP pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_WW_dom,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP - no_errors IQGAP1 HGNC ENSG00000140575 89 0 0 47 14 22.9508 CHD2 0 genome.wustl.edu 37 15 93489371 93489371 + Silent SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 15 93489371 93489371 A G SNP CHD2 ENST00000420239 human ensembl 74_37 +1 known silent c.1302 p.G434 0.444 pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CHD2 HGNC ENSG00000173575 67 0 0 30 10 25 NR2F2 0 genome.wustl.edu 37 15 96877812 96877812 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 15 96877812 96877812 C T SNP NR2F2 ENST00000394166 human ensembl 74_37 +1 known missense c.950 p.A317V 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_COUP_TF,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors NR2F2 HGNC ENSG00000185551 35 0 0 31 3 8.82353 SNX29 0 genome.wustl.edu 37 16 12145844 12145844 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 16 12145844 12145844 G A SNP SNX29 ENST00000566228 human ensembl 74_37 +1 putative missense c.889 p.D297N 0.999 NULL pfam_Run,pfam_Phox,superfamily_Phox,smart_Run,smart_Phox,pfscan_Phox,pfscan_Run - no_errors SNX29 HGNC ENSG00000048471 71 0 0 55 14 20.2899 CACNA1H 0 genome.wustl.edu 37 16 1262003 1262003 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 16 1262003 1262003 G A SNP CACNA1H ENST00000348261 human ensembl 74_37 +1 known missense c.4624 p.V1542I 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 276 1 0.361011 211 67 24.1007 SNX29 0 genome.wustl.edu 37 16 12662399 12662399 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 16 12662399 12662399 G A SNP SNX29 ENST00000306030 human ensembl 74_37 +1 known silent c.1200 p.R400 0.763 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX29 HGNC ENSG00000048471 51 0 0 34 17 33.3333 PTX4 0 genome.wustl.edu 37 16 1537330 1537330 + Missense_Mutation SNP C C A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 16 1537330 1537330 C A SNP PTX4 ENST00000447419 human ensembl 74_37 -1 known missense c.783 p.Q261H 0.002 NULL pfam_Pentaxin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors PTX4 HGNC ENSG00000251692 71 0 0 44 13 22.807 MAPK8IP3 0 genome.wustl.edu 37 16 1810417 1810417 + Silent SNP C C A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 16 1810417 1810417 C A SNP MAPK8IP3 ENST00000250894 human ensembl 74_37 +1 known silent c.1338 p.A446 0.999 NULL pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors MAPK8IP3 HGNC ENSG00000138834 78 0 0 84 16 16 DNAH3 0 genome.wustl.edu 37 16 20994156 20994156 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 16 20994156 20994156 C T SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known silent c.7746 p.S2582 0.002 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 98 0 0 54 24 30.7692 OTOA 0 genome.wustl.edu 37 16 21698928 21698928 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 16 21698928 21698928 G A SNP OTOA ENST00000286149 human ensembl 74_37 +1 known silent c.594 p.E198 0.015 NULL NULL - no_errors OTOA HGNC ENSG00000155719 30 0 0 26 9 25.7143 BRICD5 0 genome.wustl.edu 37 16 2260588 2260588 + Missense_Mutation SNP G G C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 16 2260588 2260588 G C SNP BRICD5 ENST00000562360 human ensembl 74_37 -1 known missense c.115 p.L39V 0.996 NULL pfam_BRICHOS_dom,pfscan_BRICHOS_dom - no_errors BRICD5 HGNC ENSG00000182685 18 0 0 33 3 8.33333 USP31 0 genome.wustl.edu 37 16 23080178 23080178 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 16 23080178 23080178 C T SNP USP31 ENST00000219689 human ensembl 74_37 -1 known missense c.3248 p.G1083D 0.998 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP31 HGNC ENSG00000103404 71 0 0 56 23 29.1139 TNRC6A 0 genome.wustl.edu 37 16 24806025 24806025 + Missense_Mutation SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 16 24806025 24806025 G T SNP TNRC6A ENST00000395799 human ensembl 74_37 +1 known missense c.3513 p.K1171N 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC ENSG00000090905 44 0 0 14 4 22.2222 AQP8 0 genome.wustl.edu 37 16 25228757 25228757 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 16 25228757 25228757 G A SNP AQP8 ENST00000219660 human ensembl 74_37 +1 known missense c.251 p.G84E 1.000 pfam_MIP,superfamily_Aquaporin-like,prints_Aquaporin_8,prints_MIP pfam_MIP,superfamily_Aquaporin-like,prints_Aquaporin_8,prints_MIP - no_errors AQP8 HGNC ENSG00000103375 108 0 0 87 38 30.4 GTF3C1 0 genome.wustl.edu 37 16 27473769 27473769 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 16 27473769 27473769 C T SNP GTF3C1 ENST00000356183 human ensembl 74_37 -1 known missense c.5963 p.R1988H 1.000 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 39 0 0 21 7 25 MAZ 0 genome.wustl.edu 37 16 29819074 29819074 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 16 29819074 29819074 G A SNP MAZ ENST00000219782 human ensembl 74_37 +1 known missense c.968 p.S323N 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors MAZ HGNC ENSG00000103495 58 0 0 61 21 25.6098 MVP 0 genome.wustl.edu 37 16 29853161 29853161 + Missense_Mutation SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 16 29853161 29853161 G T SNP MVP ENST00000357402 human ensembl 74_37 +1 known missense c.1436 p.R479L 1.000 NULL pfam_Vault_N,pfam_MVP_shoulder - no_errors MVP HGNC ENSG00000013364 34 0 0 56 6 9.67742 TAOK2 0 genome.wustl.edu 37 16 30002182 30002182 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 16 30002182 30002182 C T SNP TAOK2 ENST00000279394 human ensembl 74_37 +1 known silent c.2523 p.N841 0.938 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TAOK2 HGNC ENSG00000149930 110 0 0 90 5 5.26316 C16orf58 0 genome.wustl.edu 37 16 31504963 31504963 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 16 31504963 31504963 C T SNP C16orf58 ENST00000327237 human ensembl 74_37 -1 known missense c.919 p.D307N 0.260 NULL pfam_RUS2/WXR1 - no_errors C16orf58 HGNC ENSG00000140688 53 0 0 38 7 15.5556 CREBBP 0 genome.wustl.edu 37 16 3843416 3843416 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 16 3843416 3843416 G A SNP CREBBP ENST00000262367 human ensembl 74_37 -1 known missense c.1187 p.T396M 1.000 pfam_Znf_TAZ,superfamily_Znf_TAZ,smart_Znf_TAZ,pfscan_Znf_TAZ pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 152 0 0 94 26 21.6667 HMOX2 0 genome.wustl.edu 37 16 4559660 4559660 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 16 4559660 4559660 G A SNP HMOX2 ENST00000219700 human ensembl 74_37 +1 known missense c.854 p.R285Q 0.063 pirsf_Haem_Oase pfam_Haem_Oase-like,superfamily_Haem_Oase-like_multi-hlx,pirsf_Haem_Oase,prints_Haem_Oase - no_errors HMOX2 HGNC ENSG00000103415 85 0 0 45 13 22.4138 ADCY7 0 genome.wustl.edu 37 16 50338359 50338359 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 16 50338359 50338359 G A SNP ADCY7 ENST00000254235 human ensembl 74_37 +1 known missense c.1457 p.R486Q 1.000 pfam_Adenylate_cyclase-like pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY7 HGNC ENSG00000121281 82 0 0 64 8 11.1111 IRX6 0 genome.wustl.edu 37 16 55362691 55362691 + Missense_Mutation SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 16 55362691 55362691 G T SNP IRX6 ENST00000290552 human ensembl 74_37 +1 known missense c.801 p.E267D 0.790 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX6 HGNC ENSG00000159387 46 0 0 34 12 26.087 NUP93 0 genome.wustl.edu 37 16 56782290 56782290 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 16 56782290 56782290 G A SNP NUP93 ENST00000308159 human ensembl 74_37 +1 known missense c.131 p.R44H 1.000 NULL pfam_Nucleoporin_int_Nup93/Nic96 - no_errors NUP93 HGNC ENSG00000102900 23 0 0 15 8 34.7826 SLC12A3 0 genome.wustl.edu 37 16 56903668 56903668 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 16 56903668 56903668 C T SNP SLC12A3 ENST00000438926 human ensembl 74_37 +1 known missense c.533 p.S178L 1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_NaCl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A3 HGNC ENSG00000070915 56 0 0 42 15 26.3158 C16orf11 0 genome.wustl.edu 37 16 615240 615240 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 16 615240 615240 C T SNP C16orf11 ENST00000409413 human ensembl 74_37 +1 known missense c.1649 p.A550V 0.000 NULL NULL - no_errors C16orf11 HGNC ENSG00000161992 16 0 0 12 4 25 RAB40C 0 genome.wustl.edu 37 16 668205 668205 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 16 668205 668205 C T SNP RAB40C ENST00000248139 human ensembl 74_37 +1 known missense c.209 p.T70M 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_SOCS_C,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_SOCS_C,pfscan_SOCS_C,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB40C HGNC ENSG00000197562 50 0 0 32 17 34.6939 CDH16 0 genome.wustl.edu 37 16 66946576 66946576 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 16 66946576 66946576 C T SNP CDH16 ENST00000299752 human ensembl 74_37 -1 known missense c.1273 p.A425T 0.999 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH16 HGNC ENSG00000166589 41 0 0 26 10 27.7778 CES4A 0 genome.wustl.edu 37 16 67029732 67029732 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 16 67029732 67029732 G A SNP CES4A ENST00000326686 human ensembl 74_37 +1 known missense c.260 p.G87E 0.013 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES4A HGNC ENSG00000172824 49 0 0 44 4 8.33333 FHOD1 0 genome.wustl.edu 37 16 67271561 67271561 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 16 67271561 67271561 G A SNP FHOD1 ENST00000258201 human ensembl 74_37 -1 known silent c.753 p.T251 0.003 superfamily_ARM-type_fold pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD1 HGNC ENSG00000135723 79 0 0 63 4 5.97015 RLTPR 0 genome.wustl.edu 37 16 67683831 67683831 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 16 67683831 67683831 A G SNP RLTPR ENST00000334583 human ensembl 74_37 +1 known missense c.2042 p.Q681R 0.960 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RLTPR HGNC ENSG00000159753 23 0 0 21 6 22.2222 CDH1 0 genome.wustl.edu 37 16 68844111 68844111 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 16 68844111 68844111 C T SNP CDH1 ENST00000261769 human ensembl 74_37 +1 known silent c.699 p.H233 0.993 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 164 0 0 82 29 26.1261 COG8 0 genome.wustl.edu 37 16 69368569 69368569 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 16 69368569 69368569 A G SNP COG8 ENST00000306875 human ensembl 74_37 -1 known missense c.1268 p.L423P 1.000 pirsf_COG8_Metazoal_Plant pfam_COG8,superfamily_Cullin_repeat-like_dom,pirsf_COG8_Metazoal_Plant - no_errors COG8 HGNC ENSG00000213380 54 0 0 66 12 15.3846 TERF2 0 genome.wustl.edu 37 16 69400708 69400708 + Splice_Site SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 16 69400708 69400708 A G SNP TERF2 ENST00000254942 human ensembl 74_37 -1 known splice_site c.1340+2 e7+2 1.000 - - - no_errors TERF2 HGNC ENSG00000132604 26 0 0 28 6 17.6471 NFAT5 0 genome.wustl.edu 37 16 69726958 69726958 + Missense_Mutation SNP A A T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 16 69726958 69726958 A T SNP NFAT5 ENST00000432919 human ensembl 74_37 +1 known missense c.3230 p.N1077I 0.983 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFAT5 HGNC ENSG00000102908 121 0 0 61 13 17.5676 NARFL 0 genome.wustl.edu 37 16 784277 784277 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 16 784277 784277 C T SNP NARFL ENST00000301694 human ensembl 74_37 -1 known missense c.512 p.R171H 0.639 NULL superfamily_Fe_hydrogenase - no_errors NARFL HGNC ENSG00000103245 64 0 0 44 17 27.8689 GAN 0 genome.wustl.edu 37 16 81390507 81390507 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 16 81390507 81390507 A G SNP GAN ENST00000568107 human ensembl 74_37 +1 known missense c.751 p.I251V 0.994 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors GAN HGNC ENSG00000261609 145 0 0 112 18 13.8462 CMIP 0 genome.wustl.edu 37 16 81712153 81712153 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 16 81712153 81712153 C T SNP CMIP ENST00000537098 human ensembl 74_37 +1 known silent c.1308 p.P436 0.957 NULL NULL - no_errors CMIP HGNC ENSG00000153815 16 0 0 15 5 25 SLC38A8 0 genome.wustl.edu 37 16 84050849 84050849 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 16 84050849 84050849 G A SNP SLC38A8 ENST00000299709 human ensembl 74_37 -1 known silent c.849 p.D283 0.961 pfam_AA_transpt_TM pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease - no_errors SLC38A8 HGNC ENSG00000166558 64 0 0 43 11 20.3704 PRR25 0 genome.wustl.edu 37 16 857626 857626 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 16 857626 857626 G A SNP PRR25 ENST00000301698 human ensembl 74_37 +1 known missense c.623 p.R208H 0.032 NULL NULL - no_errors PRR25 HGNC ENSG00000167945 33 0 0 41 19 31.6667 GRIN2A 0 genome.wustl.edu 37 16 9858738 9858738 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 16 9858738 9858738 G A SNP GRIN2A ENST00000330684 human ensembl 74_37 -1 known missense c.2663 p.T888M 0.995 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC ENSG00000183454 122 0 0 42 23 35.3846 MYH2 0 genome.wustl.edu 37 17 10429940 10429940 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 10429940 10429940 C T SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known missense c.4163 p.R1388H 1.000 pfam_Myosin_tail,superfamily_Ribosomal_L29 pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 205 1 0.485437 83 50 37.594 NCOR1 0 genome.wustl.edu 37 17 16024467 16024467 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 16024467 16024467 C T SNP NCOR1 ENST00000268712 human ensembl 74_37 -1 known missense c.1751 p.R584Q 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 108 0 0 80 47 37.0079 RAI1 0 genome.wustl.edu 37 17 17701303 17701303 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 17701303 17701303 A G SNP RAI1 ENST00000353383 human ensembl 74_37 +1 known missense c.5041 p.S1681G 1.000 NULL smart_Znf_PHD - no_errors RAI1 HGNC ENSG00000108557 72 0 0 78 7 8.23529 SREBF1 0 genome.wustl.edu 37 17 17722871 17722871 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 17722871 17722871 G A SNP SREBF1 ENST00000355815 human ensembl 74_37 -1 known missense c.782 p.S261L 0.997 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors SREBF1 HGNC ENSG00000072310 24 0 0 27 12 30.7692 MYO15A 0 genome.wustl.edu 37 17 18023440 18023440 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 18023440 18023440 C T SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known silent c.1326 p.G442 0.000 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 49 0 0 51 17 25 FBXW10 0 genome.wustl.edu 37 17 18673378 18673378 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 18673378 18673378 C T SNP FBXW10 ENST00000308799 human ensembl 74_37 +1 known silent c.2073 p.S691 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW10 HGNC ENSG00000171931 353 0 0 186 71 27.6265 EPN2 0 genome.wustl.edu 37 17 19186802 19186802 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 19186802 19186802 C T SNP EPN2 ENST00000314728 human ensembl 74_37 +1 known missense c.370 p.R124C 0.856 pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN2 HGNC ENSG00000072134 49 0 0 29 21 42 TSR1 0 genome.wustl.edu 37 17 2237832 2237832 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 2237832 2237832 G A SNP TSR1 ENST00000301364 human ensembl 74_37 -1 known silent c.915 p.P305 0.000 pfam_AARP2CN,smart_AARP2CN pfam_BMS1_TSR1_C,pfam_AARP2CN,superfamily_Transl_B-barrel,smart_AARP2CN - no_errors TSR1 HGNC ENSG00000167721 162 0 0 47 34 41.9753 WSB1 0 genome.wustl.edu 37 17 25630636 25630636 + Silent SNP T T A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 25630636 25630636 T A SNP WSB1 ENST00000262394 human ensembl 74_37 +1 known silent c.453 p.R151 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_SOCS_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WSB1 HGNC ENSG00000109046 221 1 0.45045 70 29 29.2929 PIGS 0 genome.wustl.edu 37 17 26881438 26881438 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 26881438 26881438 C T SNP PIGS ENST00000308360 human ensembl 74_37 -1 known missense c.1468 p.A490T 0.997 pfam_PtdIno-glycan_biosynth_class_S pfam_PtdIno-glycan_biosynth_class_S - no_errors PIGS HGNC ENSG00000087111 115 0 0 99 32 24.4275 NEK8 0 genome.wustl.edu 37 17 27067956 27067956 + Missense_Mutation SNP C C A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 27067956 27067956 C A SNP NEK8 ENST00000268766 human ensembl 74_37 +1 known missense c.1685 p.P562H 0.979 superfamily_RCC1/BLIP-II pfam_Prot_kinase_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_RCC1/BLIP-II,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_dom,prints_Reg_chr_condens,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK8 HGNC ENSG00000160602 21 0 0 31 3 8.82353 SLC6A4 0 genome.wustl.edu 37 17 28536212 28536212 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 28536212 28536212 C T SNP SLC6A4 ENST00000261707 human ensembl 74_37 -1 known missense c.1498 p.A500T 0.952 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfam_Na/ntran_symport_serotonin_N,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_serotonin_N - no_errors SLC6A4 HGNC ENSG00000108576 90 0 0 71 28 28.2828 EVI2A 0 genome.wustl.edu 37 17 29645465 29645465 + Nonsense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 29645465 29645465 C T SNP EVI2A ENST00000247270 human ensembl 74_37 -1 known nonsense c.636 p.W212* 1.000 pfam_Ectropic_vir_integratn_site_2A,pirsf_Ectropic_vir_integratn_site_2A pfam_Ectropic_vir_integratn_site_2A,pirsf_Ectropic_vir_integratn_site_2A - no_errors EVI2A HGNC ENSG00000126860 17 0 0 12 6 33.3333 RASL10B 0 genome.wustl.edu 37 17 34068069 34068069 + Silent SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 34068069 34068069 A G SNP RASL10B ENST00000268864 human ensembl 74_37 +1 known silent c.357 p.S119 1.000 pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase - no_errors RASL10B HGNC ENSG00000141150 35 0 0 43 4 8.51064 GPR179 0 genome.wustl.edu 37 17 36489178 36489178 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 36489178 36489178 C T SNP GPR179 ENST00000342292 human ensembl 74_37 -1 known missense c.1993 p.A665T 0.972 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 30 0 0 31 10 24.3902 CDC6 0 genome.wustl.edu 37 17 38450261 38450261 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 38450261 38450261 C T SNP CDC6 ENST00000209728 human ensembl 74_37 +1 known missense c.896 p.T299M 1.000 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_Cell_div_Cdc6/18 pfam_ATPase_AAA_core,pfam_Cdc6_C_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_Cell_div_Cdc6/18 - no_errors CDC6 HGNC ENSG00000094804 281 0 0 113 44 28.0255 KRT24 0 genome.wustl.edu 37 17 38855782 38855782 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 38855782 38855782 G A SNP KRT24 ENST00000264651 human ensembl 74_37 -1 known silent c.1275 p.N425 0.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT24 HGNC ENSG00000167916 246 0 0 162 60 27.027 KRT23 0 genome.wustl.edu 37 17 39092491 39092491 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 39092491 39092491 T C SNP KRT23 ENST00000209718 human ensembl 74_37 -1 known missense c.365 p.Y122C 0.815 pfam_IF pfam_IF,prints_Keratin_I - no_errors KRT23 HGNC ENSG00000108244 71 0 0 66 26 28.2609 KRT23 0 genome.wustl.edu 37 17 39092616 39092616 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 39092616 39092616 G A SNP KRT23 ENST00000209718 human ensembl 74_37 -1 known silent c.240 p.N80 0.890 pfam_IF pfam_IF,prints_Keratin_I - no_errors KRT23 HGNC ENSG00000108244 117 0 0 99 52 34.4371 KRT32 0 genome.wustl.edu 37 17 39622145 39622145 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 39622145 39622145 C T SNP KRT32 ENST00000225899 human ensembl 74_37 -1 known silent c.588 p.E196 1.000 pfam_IF,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT32 HGNC ENSG00000108759 74 0 0 82 7 7.86517 KRT14 0 genome.wustl.edu 37 17 39740077 39740077 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 39740077 39740077 G A SNP KRT14 ENST00000167586 human ensembl 74_37 -1 known missense c.862 p.R288C 1.000 pfam_IF,superfamily_Prefoldin,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT14 HGNC ENSG00000186847 168 0 0 125 42 25.1497 HSD17B1 0 genome.wustl.edu 37 17 40705214 40705214 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 40705214 40705214 C T SNP HSD17B1 ENST00000585807 human ensembl 74_37 +1 known missense c.170 p.P57L 0.213 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pirsf_17beta_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pirsf_17beta_DH,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR - no_errors HSD17B1 HGNC ENSG00000108786 60 0 0 69 10 12.6582 COASY 0 genome.wustl.edu 37 17 40714440 40714440 + Missense_Mutation SNP C C A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 40714440 40714440 C A SNP COASY ENST00000590958 human ensembl 74_37 +1 known missense c.11 p.P4Q 0.004 NULL pfam_Depp_CoAkinase,pfam_Cyt_trans-like,superfamily_P-loop_NTPase,tigrfam_Depp_CoAkinase - no_errors COASY HGNC ENSG00000068120 112 0 0 123 27 18 AOC2 0 genome.wustl.edu 37 17 40997145 40997145 + Missense_Mutation SNP C C A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 40997145 40997145 C A SNP AOC2 ENST00000253799 human ensembl 74_37 +1 known missense c.502 p.L168M 0.062 pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_N-reg pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N3,pfam_Cu_amine_oxidase_N2,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC2 HGNC ENSG00000131480 51 0 0 49 19 27.9412 ETV4 0 genome.wustl.edu 37 17 41606543 41606543 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 41606543 41606543 C T SNP ETV4 ENST00000319349 human ensembl 74_37 -1 known missense c.1190 p.R397H 1.000 pfam_Ets_dom,smart_Ets_dom,prints_Ets_dom,pfscan_Ets_dom pfam_ETS_PEA3_N,pfam_Ets_dom,smart_Ets_dom,prints_Ets_dom,pfscan_Ets_dom - no_errors ETV4 HGNC ENSG00000175832 205 1 0.485437 145 68 31.9249 GPATCH8 0 genome.wustl.edu 37 17 42475981 42475981 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 42475981 42475981 C T SNP GPATCH8 ENST00000591680 human ensembl 74_37 -1 known missense c.3464 p.R1155Q 0.999 NULL pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom - no_errors GPATCH8 HGNC ENSG00000186566 197 0 0 90 35 28 ARHGAP27 0 genome.wustl.edu 37 17 43475388 43475388 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 43475388 43475388 T C SNP ARHGAP27 ENST00000428638 human ensembl 74_37 -1 known missense c.1769 p.Y590C 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_WW_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP27 HGNC ENSG00000159314 68 0 0 63 17 21.25 CRHR1 0 genome.wustl.edu 37 17 43907538 43907538 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 43907538 43907538 G A SNP CRHR1 ENST00000398285 human ensembl 74_37 +1 known silent c.600 p.V200 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_CRF1_rcpt pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CRF1_rcpt,prints_GPCR_2_diuretic_rcpt - no_errors CRHR1 HGNC ENSG00000120088 60 0 0 45 15 25 CRHR1 0 genome.wustl.edu 37 17 43912090 43912090 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 43912090 43912090 G A SNP CRHR1 ENST00000398285 human ensembl 74_37 +1 known missense c.1295 p.R432H 1.000 prints_GPCR_2_CRF_rcpt pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CRF1_rcpt,prints_GPCR_2_diuretic_rcpt - no_errors CRHR1 HGNC ENSG00000120088 79 0 0 81 34 29.5652 MYBBP1A 0 genome.wustl.edu 37 17 4453567 4453567 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 4453567 4453567 G A SNP MYBBP1A ENST00000381556 human ensembl 74_37 -1 known missense c.1105 p.R369W 0.995 pfam_DNA_pol_V,superfamily_ARM-type_fold pfam_DNA_pol_V,superfamily_ARM-type_fold - no_errors MYBBP1A HGNC ENSG00000132382 207 0 0 92 76 45.2381 HOXB3 0 genome.wustl.edu 37 17 46627995 46627995 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 46627995 46627995 C T SNP HOXB3 ENST00000311626 human ensembl 74_37 -1 known missense c.997 p.V333I 0.904 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXB3 HGNC ENSG00000120093 31 0 0 43 18 29.5082 FAM117A 0 genome.wustl.edu 37 17 47788852 47788852 + Missense_Mutation SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 47788852 47788852 G T SNP FAM117A ENST00000240364 human ensembl 74_37 -1 known missense c.1127 p.P376Q 1.000 NULL NULL - no_errors FAM117A HGNC ENSG00000121104 60 0 0 38 13 25.4902 SLC52A1 0 genome.wustl.edu 37 17 4936399 4936399 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 4936399 4936399 C T SNP SLC52A1 ENST00000254853 human ensembl 74_37 -1 known silent c.1200 p.L400 1.000 NULL pfam_Endogenous_retrovirus_rcpt - no_errors SLC52A1 HGNC ENSG00000132517 66 0 0 39 17 30.3571 KIF2B 0 genome.wustl.edu 37 17 51900882 51900882 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 51900882 51900882 G A SNP KIF2B ENST00000268919 human ensembl 74_37 +1 known missense c.488 p.R163H 0.998 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2B HGNC ENSG00000141200 86 0 0 59 25 29.7619 DHX33 0 genome.wustl.edu 37 17 5359369 5359369 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 5359369 5359369 T C SNP DHX33 ENST00000225296 human ensembl 74_37 -1 known missense c.983 p.Y328C 0.993 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX33 HGNC ENSG00000005100 45 0 0 27 2 6.89655 NLRP1 0 genome.wustl.edu 37 17 5442750 5442750 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 5442750 5442750 T C SNP NLRP1 ENST00000572272 human ensembl 74_37 -1 known missense c.2855 p.K952R 0.005 NULL pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R - no_errors NLRP1 HGNC ENSG00000091592 47 0 0 42 5 10.6383 RNF43 0 genome.wustl.edu 37 17 56439936 56439936 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 56439936 56439936 C T SNP RNF43 ENST00000407977 human ensembl 74_37 -1 known missense c.656 p.R219H 1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 103 0 0 92 45 32.8467 WSCD1 0 genome.wustl.edu 37 17 6023723 6023723 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 6023723 6023723 C T SNP WSCD1 ENST00000317744 human ensembl 74_37 +1 known silent c.1470 p.Y490 0.935 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_WSC_carb-bd,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd - no_errors WSCD1 HGNC ENSG00000179314 139 0 0 65 47 41.9643 CEP95 0 genome.wustl.edu 37 17 62528036 62528036 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 62528036 62528036 G A SNP CEP95 ENST00000556440 human ensembl 74_37 +1 known missense c.1568 p.R523H 0.147 NULL superfamily_CH-domain - no_errors CEP95 HGNC ENSG00000258890 10 0 0 7 3 30 CACNG5 0 genome.wustl.edu 37 17 64881181 64881181 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 64881181 64881181 C T SNP CACNG5 ENST00000307139 human ensembl 74_37 +1 known missense c.652 p.R218C 1.000 NULL pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g5su - no_errors CACNG5 HGNC ENSG00000075429 48 0 0 38 10 20.8333 ABCA5 0 genome.wustl.edu 37 17 67298996 67298996 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 67298996 67298996 C T SNP ABCA5 ENST00000392677 human ensembl 74_37 -1 known missense c.982 p.G328R 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA5 HGNC ENSG00000154265 29 0 0 8 4 33.3333 CLEC10A 0 genome.wustl.edu 37 17 6978442 6978442 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 6978442 6978442 G A SNP CLEC10A ENST00000254868 human ensembl 74_37 -1 known silent c.882 p.D294 0.001 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin pfam_Lectin_N,pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors CLEC10A HGNC ENSG00000132514 102 0 0 50 32 39.0244 DNAI2 0 genome.wustl.edu 37 17 72301522 72301522 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 72301522 72301522 C T SNP DNAI2 ENST00000311014 human ensembl 74_37 +1 known silent c.1152 p.G384 0.007 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DNAI2 HGNC ENSG00000171595 46 0 0 38 12 24 KIAA0195 0 genome.wustl.edu 37 17 73482483 73482483 + Nonsense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 73482483 73482483 C T SNP KIAA0195 ENST00000314256 human ensembl 74_37 +1 known nonsense c.385 p.R129* 0.765 NULL pfam_ATPase_P-typ_cation-transptr_C - no_errors KIAA0195 HGNC ENSG00000177728 118 0 0 96 43 30.9353 FBF1 0 genome.wustl.edu 37 17 73915794 73915794 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 73915794 73915794 G A SNP FBF1 ENST00000389570 human ensembl 74_37 -1 known missense c.2051 p.A684V 0.000 NULL superfamily_HRDC-like - no_errors FBF1 HGNC ENSG00000188878 11 0 0 15 5 25 EVPL 0 genome.wustl.edu 37 17 74018596 74018596 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 74018596 74018596 G A SNP EVPL ENST00000301607 human ensembl 74_37 -1 known silent c.504 p.Y168 1.000 NULL pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 9 0 0 12 8 40 SPHK1 0 genome.wustl.edu 37 17 74382149 74382149 + Missense_Mutation SNP C C A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 74382149 74382149 C A SNP SPHK1 ENST00000323374 human ensembl 74_37 +1 known missense c.352 p.Q118K 0.711 pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors SPHK1 HGNC ENSG00000176170 31 0 0 21 9 30 TNRC6C 0 genome.wustl.edu 37 17 76075622 76075622 + Missense_Mutation SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 76075622 76075622 G T SNP TNRC6C ENST00000335749 human ensembl 74_37 +1 known missense c.3348 p.Q1116H 1.000 NULL pfam_Argonaute_hook_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TNRC6C HGNC ENSG00000078687 134 0 0 109 43 28.2895 ENPP7 0 genome.wustl.edu 37 17 77709045 77709045 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 77709045 77709045 G A SNP ENPP7 ENST00000328313 human ensembl 74_37 +1 known silent c.603 p.T201 0.241 pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,superfamily_Alkaline_phosphatase_core - no_errors ENPP7 HGNC ENSG00000182156 44 0 0 46 8 14.8148 GAA 0 genome.wustl.edu 37 17 78087092 78087092 + Missense_Mutation SNP C C A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 78087092 78087092 C A SNP GAA ENST00000302262 human ensembl 74_37 +1 known missense c.2116 p.L706I 1.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors GAA HGNC ENSG00000171298 14 0 0 11 5 31.25 RNF213 0 genome.wustl.edu 37 17 78363631 78363631 + Silent SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 78363631 78363631 T C SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known silent c.15199 p.L5067 0.932 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 86 0 0 50 14 21.875 ARL16 0 genome.wustl.edu 37 17 79648877 79648877 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 79648877 79648877 A G SNP ARL16 ENST00000397498 human ensembl 74_37 -1 known missense c.455 p.M152T 1.000 pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1 pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1 - no_errors ARL16 HGNC ENSG00000214087 23 0 0 22 6 21.4286 MYH10 0 genome.wustl.edu 37 17 8380246 8380246 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 8380246 8380246 C T SNP MYH10 ENST00000396239 human ensembl 74_37 -1 known missense c.5797 p.E1933K 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 35 0 0 19 13 40.625 OSBPL1A 0 genome.wustl.edu 37 18 21898587 21898587 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 18 21898587 21898587 C T SNP OSBPL1A ENST00000319481 human ensembl 74_37 -1 known missense c.710 p.R237Q 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Oxysterol-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pleckstrin_homology,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,prints_Ankyrin_rpt - no_errors OSBPL1A HGNC ENSG00000141447 50 0 0 24 3 11.1111 TPGS2 0 genome.wustl.edu 37 18 34408646 34408646 + Nonsense_Mutation SNP C C A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 18 34408646 34408646 C A SNP TPGS2 ENST00000334295 human ensembl 74_37 -1 known nonsense c.85 p.E29* 0.994 NULL smart_SMI1/KNR4_like_dom - no_errors TPGS2 HGNC ENSG00000134779 69 0 0 99 11 10 ATP5A1 0 genome.wustl.edu 37 18 43666116 43666116 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 18 43666116 43666116 G A SNP ATP5A1 ENST00000282050 human ensembl 74_37 -1 known silent c.1392 p.G464 0.989 pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_F1-cplx_asu pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_F1_a/bsu_N,tigrfam_ATPase_F1-cplx_asu - no_errors ATP5A1 HGNC ENSG00000152234 45 0 0 27 11 28.9474 MBD1 0 genome.wustl.edu 37 18 47800666 47800666 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 18 47800666 47800666 G A SNP MBD1 ENST00000424334 human ensembl 74_37 -1 known missense c.1189 p.R397W 1.000 pfam_Znf_CXXC,pfscan_Znf_CXXC pfam_Znf_CXXC,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_CXXC - no_errors MBD1 HGNC ENSG00000141644 33 0 0 42 10 19.2308 C18orf54 0 genome.wustl.edu 37 18 51888230 51888230 + Missense_Mutation SNP T T A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 18 51888230 51888230 T A SNP C18orf54 ENST00000300091 human ensembl 74_37 +1 known missense c.501 p.N167K 0.009 NULL NULL - no_errors C18orf54 HGNC ENSG00000166845 39 0 0 21 4 16 LAMA1 0 genome.wustl.edu 37 18 7023203 7023203 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 18 7023203 7023203 G A SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known silent c.2661 p.D887 0.058 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 42 0 0 38 16 29.6296 FBXO15 0 genome.wustl.edu 37 18 71740947 71740947 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 18 71740947 71740947 C T SNP FBXO15 ENST00000419743 human ensembl 74_37 -1 known missense c.1282 p.V428I 0.001 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO15 HGNC ENSG00000141665 124 0 0 68 24 26.087 YES1 0 genome.wustl.edu 37 18 732849 732849 + Silent SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 18 732849 732849 G T SNP YES1 ENST00000314574 human ensembl 74_37 -1 known silent c.1408 p.R470 0.563 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors YES1 HGNC ENSG00000176105 189 0 0 72 33 31.4286 NFATC1 0 genome.wustl.edu 37 18 77246762 77246762 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 18 77246762 77246762 G A SNP NFATC1 ENST00000427363 human ensembl 74_37 +1 known silent c.2607 p.P869 0.285 NULL pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC1 HGNC ENSG00000131196 35 0 0 38 14 26.9231 SOGA2 0 genome.wustl.edu 37 18 8813106 8813106 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 18 8813106 8813106 C T SNP SOGA2 ENST00000359865 human ensembl 74_37 +1 known missense c.2734 p.R912C 1.000 NULL pfam_SOGA - no_errors SOGA2 HGNC ENSG00000168502 36 0 0 25 7 21.875 GRIN3B 0 genome.wustl.edu 37 19 1003296 1003296 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 1003296 1003296 C T SNP GRIN3B ENST00000234389 human ensembl 74_37 +1 known silent c.594 p.P198 0.001 NULL pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN3B HGNC ENSG00000116032 13 0 0 13 3 18.75 CNN2 0 genome.wustl.edu 37 19 1036231 1036231 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 1036231 1036231 G A SNP CNN2 ENST00000263097 human ensembl 74_37 +1 known missense c.493 p.V165I 1.000 superfamily_CH-domain,prints_SM22_calponin pfam_Calponin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin,prints_Calponin - no_errors CNN2 HGNC ENSG00000064666 37 0 0 27 17 38.6364 KEAP1 0 genome.wustl.edu 37 19 10610266 10610266 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 10610266 10610266 G A SNP KEAP1 ENST00000171111 human ensembl 74_37 -1 known silent c.444 p.G148 0.919 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KEAP1 HGNC ENSG00000079999 73 0 0 53 12 18.4615 RAB3D 0 genome.wustl.edu 37 19 11446214 11446214 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 11446214 11446214 G A SNP RAB3D ENST00000222120 human ensembl 74_37 -1 known silent c.381 p.N127 0.751 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB3D HGNC ENSG00000105514 53 0 0 31 23 42.5926 PRKCSH 0 genome.wustl.edu 37 19 11552108 11552108 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 11552108 11552108 G A SNP PRKCSH ENST00000252455 human ensembl 74_37 +1 known missense c.404 p.R135H 0.986 NULL pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_LDrepeatLR_classA_rpt,pfscan_EF_hand_dom - no_errors PRKCSH HGNC ENSG00000130175 143 0 0 156 9 5.45455 ZNF439 0 genome.wustl.edu 37 19 11978875 11978875 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 11978875 11978875 T C SNP ZNF439 ENST00000304030 human ensembl 74_37 +1 known missense c.991 p.C331R 0.980 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF439 HGNC ENSG00000171291 101 0 0 34 19 35.8491 BEST2 0 genome.wustl.edu 37 19 12864133 12864133 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 12864133 12864133 A G SNP BEST2 ENST00000042931 human ensembl 74_37 +1 known missense c.212 p.Q71R 1.000 pfam_Bestrophin/UPF0187 pfam_Bestrophin/UPF0187 - no_errors BEST2 HGNC ENSG00000039987 97 0 0 57 14 19.7183 GCDH 0 genome.wustl.edu 37 19 13007752 13007752 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 13007752 13007752 G A SNP GCDH ENST00000222214 human ensembl 74_37 +1 known missense c.881 p.R294Q 1.000 pfam_AcylCo_DH/oxidase_C,superfamily_AcylCo_DH/oxidase_C pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors GCDH HGNC ENSG00000105607 51 0 0 43 26 37.6812 NANOS3 0 genome.wustl.edu 37 19 13988458 13988458 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 13988458 13988458 C T SNP NANOS3 ENST00000339133 human ensembl 74_37 +1 known silent c.396 p.G132 1.000 NULL pfam_Znf_nanos-typ - no_errors NANOS3 HGNC ENSG00000187556 38 0 0 25 8 24.2424 PCSK4 0 genome.wustl.edu 37 19 1486876 1486876 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 1486876 1486876 G A SNP PCSK4 ENST00000588195 human ensembl 74_37 -1 known missense c.1030 p.R344W 1.000 NULL pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,superfamily_Prot_inh_propept - no_errors PCSK4 HGNC ENSG00000115257 18 0 0 8 9 52.9412 SLC1A6 0 genome.wustl.edu 37 19 15083604 15083604 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 15083604 15083604 C T SNP SLC1A6 ENST00000221742 human ensembl 74_37 -1 known missense c.119 p.R40H 1.000 NULL pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A6 HGNC ENSG00000105143 16 0 0 18 10 35.7143 SYDE1 0 genome.wustl.edu 37 19 15224598 15224598 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 15224598 15224598 G A SNP SYDE1 ENST00000342784 human ensembl 74_37 +1 known missense c.2032 p.V678M 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors SYDE1 HGNC ENSG00000105137 172 0 0 186 14 7 EPHX3 0 genome.wustl.edu 37 19 15342858 15342858 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 15342858 15342858 G A SNP EPHX3 ENST00000221730 human ensembl 74_37 -1 known silent c.165 p.C55 0.783 NULL pfam_AB_hydrolase_1,prints_Epox_hydrolase-like,prints_AB_hydrolase_1 - no_errors EPHX3 HGNC ENSG00000105131 13 0 0 9 7 43.75 BRD4 0 genome.wustl.edu 37 19 15354055 15354055 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 15354055 15354055 G A SNP BRD4 ENST00000263377 human ensembl 74_37 -1 known missense c.2825 p.T942M 0.990 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD4 HGNC ENSG00000141867 21 0 0 20 6 23.0769 CYP4F22 0 genome.wustl.edu 37 19 15651270 15651270 + Silent SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 15651270 15651270 T C SNP CYP4F22 ENST00000269703 human ensembl 74_37 +1 known silent c.681 p.S227 0.997 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F22 HGNC ENSG00000171954 78 0 0 78 13 14.2857 TPM4 0 genome.wustl.edu 37 19 16192753 16192753 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 16192753 16192753 C T SNP TPM4 ENST00000344824 human ensembl 74_37 +1 known missense c.271 p.R91C 0.972 pfam_Tropomyosin,prints_Tropomyosin pfam_Tropomyosin,prints_Tropomyosin - no_errors TPM4 HGNC ENSG00000167460 70 0 0 64 20 23.8095 USE1 0 genome.wustl.edu 37 19 17330519 17330519 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 17330519 17330519 C T SNP USE1 ENST00000263897 human ensembl 74_37 +1 known missense c.677 p.T226M 1.000 pfam_Vesicle_transport_protein_Use1 pfam_Vesicle_transport_protein_Use1 - no_errors USE1 HGNC ENSG00000053501 96 0 0 58 22 27.5 USHBP1 0 genome.wustl.edu 37 19 17369181 17369181 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 17369181 17369181 C T SNP USHBP1 ENST00000252597 human ensembl 74_37 -1 known missense c.1060 p.E354K 0.972 pfam_USH1C-bd_PDZ_domain pfam_USH1C-bd_PDZ_domain - no_errors USHBP1 HGNC ENSG00000130307 81 0 0 53 18 25.3521 FAM129C 0 genome.wustl.edu 37 19 17643096 17643096 + Nonsense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 17643096 17643096 C T SNP FAM129C ENST00000335393 human ensembl 74_37 +1 known nonsense c.304 p.R102* 0.930 smart_Pleckstrin_homology smart_Pleckstrin_homology - no_errors FAM129C HGNC ENSG00000167483 43 0 0 41 13 24.0741 TMEM59L 0 genome.wustl.edu 37 19 18726894 18726894 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 18726894 18726894 C T SNP TMEM59L ENST00000262817 human ensembl 74_37 +1 known missense c.518 p.T173I 1.000 pfam_Uncharacterised_TMEM59 pfam_Uncharacterised_TMEM59 - no_errors TMEM59L HGNC ENSG00000105696 105 0 0 73 26 26.2626 KLHL26 0 genome.wustl.edu 37 19 18779982 18779982 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 18779982 18779982 T C SNP KLHL26 ENST00000300976 human ensembl 74_37 +1 known missense c.1775 p.L592P 1.000 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL26 HGNC ENSG00000167487 44 0 0 48 5 9.43396 LPAR2 0 genome.wustl.edu 37 19 19737730 19737730 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 19737730 19737730 G A SNP LPAR2 ENST00000407877 human ensembl 74_37 -1 known silent c.364 p.L122 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_LPA_rcpt_EDG4,prints_GPCR_Rhodpsn,prints_LPA_rcpt,prints_LPA_rcpt_EDG2,prints_Melcrt_ACTH_rcpt,prints_S1P_rcpt - no_errors LPAR2 HGNC ENSG00000064547 12 0 0 13 3 18.75 ATP13A1 0 genome.wustl.edu 37 19 19764812 19764812 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 19764812 19764812 G A SNP ATP13A1 ENST00000357324 human ensembl 74_37 -1 known missense c.1955 p.A652V 0.837 pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Cation_typ_V pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A1 HGNC ENSG00000105726 12 0 0 15 7 31.8182 MKNK2 0 genome.wustl.edu 37 19 2046391 2046391 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 2046391 2046391 G A SNP MKNK2 ENST00000250896 human ensembl 74_37 -1 known silent c.216 p.T72 0.065 pfam_LipoPS_kinase,superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MKNK2 HGNC ENSG00000099875 54 0 0 44 15 25.4237 ZNF85 0 genome.wustl.edu 37 19 21117754 21117754 + Splice_Site SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 21117754 21117754 G T SNP ZNF85 ENST00000328178 human ensembl 74_37 +1 known splice_site c.131-1 e3-1 0.078 - - - no_errors ZNF85 HGNC ENSG00000105750 21 0 0 14 4 22.2222 LOC641367 0 genome.wustl.edu 37 19 21933815 21933815 + RNA SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 21933815 21933815 C T SNP LOC641367 ENST00000596710 human ensembl 74_37 +1 known rna NULL NULL 0.008 - - - no_errors RP11-420K14.6 Clone_based_vega_gene ENSG00000269845 17 0 0 19 4 17.3913 ZNF254 0 genome.wustl.edu 37 19 24310333 24310333 + Missense_Mutation SNP A A T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 24310333 24310333 A T SNP ZNF254 ENST00000357002 human ensembl 74_37 +1 known missense c.1531 p.I511F 0.513 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF254 HGNC ENSG00000213096 110 0 0 44 16 26.6667 UQCRFS1 0 genome.wustl.edu 37 19 29698557 29698557 + Silent SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 29698557 29698557 T C SNP UQCRFS1 ENST00000304863 human ensembl 74_37 -1 known silent c.723 p.S241 0.852 pfam_Rieske_2Fe-2S,superfamily_Rieske_2Fe-2S,prints_Rieske_Fe-S_prot_C,tigrfam_Ubiquinol_cyt_c_Rdtase_Fe-S-su pfam_Ubiqinol_cyt_c_Rdtase_N,pfam_Ubiquinol_cyt_Rdtase_TM,pfam_Rieske_2Fe-2S,superfamily_Rieske_2Fe-2S,superfamily_Globular_prot_asu/bsu,prints_Rieske_Fe-S_prot_C,tigrfam_Ubiquinol_cyt_c_Rdtase_Fe-S-su - no_errors UQCRFS1 HGNC ENSG00000169021 57 0 0 23 9 28.125 PLEKHF1 0 genome.wustl.edu 37 19 30165483 30165483 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 30165483 30165483 A G SNP PLEKHF1 ENST00000436066 human ensembl 74_37 +1 known missense c.737 p.D246G 0.997 NULL pfam_Znf_FYVE,pfam_Pleckstrin_homology,superfamily_Znf_FYVE_PHD,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel - no_errors PLEKHF1 HGNC ENSG00000166289 8 0 0 11 5 31.25 ZNF536 0 genome.wustl.edu 37 19 31040129 31040129 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 31040129 31040129 C T SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known silent c.3603 p.S1201 0.022 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 68 0 0 75 5 6.25 GNA15 0 genome.wustl.edu 37 19 3151745 3151745 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 3151745 3151745 G A SNP GNA15 ENST00000262958 human ensembl 74_37 +1 known missense c.526 p.V176I 0.032 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q - no_errors GNA15 HGNC ENSG00000060558 157 0 0 135 63 31.8182 WDR88 0 genome.wustl.edu 37 19 33623132 33623132 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 33623132 33623132 G A SNP WDR88 ENST00000355868 human ensembl 74_37 +1 known silent c.57 p.P19 0.023 NULL pfam_WD40_repeat,pfam_PQQ_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_PQQ_beta_propeller_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR88 HGNC ENSG00000166359 54 0 0 55 21 27.6316 ARHGAP33 0 genome.wustl.edu 37 19 36276311 36276311 + Missense_Mutation SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 36276311 36276311 G T SNP ARHGAP33 ENST00000007510 human ensembl 74_37 +1 known missense c.1868 p.G623V 0.992 NULL pfam_RhoGAP_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP33 HGNC ENSG00000004777 102 0 0 70 30 30 CLIP3 0 genome.wustl.edu 37 19 36517493 36517493 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 36517493 36517493 G A SNP CLIP3 ENST00000360535 human ensembl 74_37 -1 known missense c.557 p.P186L 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain - no_errors CLIP3 HGNC ENSG00000105270 42 0 0 38 13 25.4902 ZNF585B 0 genome.wustl.edu 37 19 37678131 37678131 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 37678131 37678131 T C SNP ZNF585B ENST00000532828 human ensembl 74_37 -1 known missense c.308 p.D103G 0.036 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF585B HGNC ENSG00000245680 50 0 0 18 5 21.7391 ZFR2 0 genome.wustl.edu 37 19 3821382 3821382 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 3821382 3821382 C T SNP ZFR2 ENST00000262961 human ensembl 74_37 -1 known silent c.1587 p.A529 0.000 NULL pfam_DZF,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR2 HGNC ENSG00000105278 12 0 0 8 7 46.6667 EIF3K 0 genome.wustl.edu 37 19 39116703 39116703 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 39116703 39116703 C T SNP EIF3K ENST00000248342 human ensembl 74_37 +1 known silent c.315 p.L105 0.402 pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25,superfamily_ARM-type_fold pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25,superfamily_ARM-type_fold - no_errors EIF3K HGNC ENSG00000178982 164 0 0 135 47 25.8242 ACTN4 0 genome.wustl.edu 37 19 39207831 39207831 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 39207831 39207831 C T SNP ACTN4 ENST00000252699 human ensembl 74_37 +1 known missense c.1018 p.R340C 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN4 HGNC ENSG00000130402 34 0 0 33 16 32.6531 FBXO27 0 genome.wustl.edu 37 19 39517602 39517602 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 39517602 39517602 C T SNP FBXO27 ENST00000292853 human ensembl 74_37 -1 known missense c.616 p.V206I 0.238 pfam_F-box-assoc_dom,superfamily_Galactose-bd-like,pfscan_F-box-assoc_dom pfam_F-box-assoc_dom,pfam_F-box_dom,superfamily_Galactose-bd-like,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom,pfscan_F-box-assoc_dom - no_errors FBXO27 HGNC ENSG00000161243 143 0 0 100 35 25.9259 CYP2B6 0 genome.wustl.edu 37 19 41509957 41509957 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 41509957 41509957 G A SNP CYP2B6 ENST00000324071 human ensembl 74_37 +1 known missense c.223 p.V75M 0.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I_CYP2A-like - no_errors CYP2B6 HGNC ENSG00000197408 64 0 0 58 16 21.6216 BCKDHA 0 genome.wustl.edu 37 19 41928113 41928113 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 41928113 41928113 G A SNP BCKDHA ENST00000595085 human ensembl 74_37 +1 known missense c.793 p.V265I 0.951 pfam_DH_E1,pfam_Transketolase_N pfam_DH_E1,pfam_Transketolase_N - no_errors BCKDHA HGNC ENSG00000248098 33 0 0 29 15 34.0909 CEACAM7 0 genome.wustl.edu 37 19 42187807 42187807 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 42187807 42187807 G A SNP CEACAM7 ENST00000006724 human ensembl 74_37 -1 known silent c.615 p.S205 0.008 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CEACAM7 HGNC ENSG00000007306 139 0 0 93 30 24.3902 CEACAM5 0 genome.wustl.edu 37 19 42224051 42224051 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 42224051 42224051 C T SNP CEACAM5 ENST00000221992 human ensembl 74_37 +1 known silent c.1695 p.D565 0.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM5 HGNC ENSG00000105388 174 0 0 109 43 28.2895 LYPD4 0 genome.wustl.edu 37 19 42343292 42343292 + Splice_Site SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 42343292 42343292 C T SNP LYPD4 ENST00000330743 human ensembl 74_37 -1 known splice_site c.67+1 e1+1 0.980 - - - no_errors LYPD4 HGNC ENSG00000183103 154 0 0 102 34 25 GRIK5 0 genome.wustl.edu 37 19 42509992 42509992 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 42509992 42509992 G A SNP GRIK5 ENST00000301218 human ensembl 74_37 -1 known missense c.2146 p.R716C 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK5 HGNC ENSG00000105737 21 0 0 23 13 36.1111 CIC 0 genome.wustl.edu 37 19 42791309 42791309 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 42791309 42791309 G A SNP CIC ENST00000575354 human ensembl 74_37 +1 known silent c.369 p.P123 0.268 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 20 0 0 15 8 34.7826 CIC 0 genome.wustl.edu 37 19 42795157 42795157 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 42795157 42795157 C T SNP CIC ENST00000575354 human ensembl 74_37 +1 known missense c.2237 p.A746V 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 38 0 0 49 6 10.9091 CEACAM1 0 genome.wustl.edu 37 19 43026288 43026288 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 43026288 43026288 G A SNP CEACAM1 ENST00000161559 human ensembl 74_37 -1 known missense c.491 p.A164V 0.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM1 HGNC ENSG00000079385 220 0 0 137 43 23.8889 CEACAM8 0 genome.wustl.edu 37 19 43098935 43098935 + Nonsense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 43098935 43098935 G A SNP CEACAM8 ENST00000244336 human ensembl 74_37 -1 known nonsense c.46 p.Q16* 0.033 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM8 HGNC ENSG00000124469 141 0 0 121 8 6.20155 SH3GL1 0 genome.wustl.edu 37 19 4365576 4365576 + Silent SNP C C A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 4365576 4365576 C A SNP SH3GL1 ENST00000269886 human ensembl 74_37 -1 known silent c.234 p.R78 0.089 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_SH3_domain,pfam_BAR_dom-cont,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SH3GL1 HGNC ENSG00000141985 136 0 0 122 14 10.2941 ZNF180 0 genome.wustl.edu 37 19 44980971 44980971 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 44980971 44980971 G A SNP ZNF180 ENST00000221327 human ensembl 74_37 -1 known missense c.1727 p.P576L 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF180 HGNC ENSG00000167384 98 0 0 41 16 28.0702 QPCTL 0 genome.wustl.edu 37 19 46206170 46206170 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 46206170 46206170 G A SNP QPCTL ENST00000012049 human ensembl 74_37 +1 known missense c.1012 p.V338M 0.977 pfam_Peptidase_M28 pfam_Peptidase_M28 - no_errors QPCTL HGNC ENSG00000011478 168 0 0 140 45 24.3243 DMWD 0 genome.wustl.edu 37 19 46289222 46289222 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 46289222 46289222 G A SNP DMWD ENST00000270223 human ensembl 74_37 -1 known missense c.1532 p.A511V 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMWD HGNC ENSG00000185800 25 0 0 33 17 34 C19orf10 0 genome.wustl.edu 37 19 4658063 4658063 + Missense_Mutation SNP A A C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 4658063 4658063 A C SNP C19orf10 ENST00000262947 human ensembl 74_37 -1 known missense c.476 p.L159R 1.000 pfam_UPF0556 pfam_UPF0556 - no_errors C19orf10 HGNC ENSG00000074842 25 0 0 23 12 34.2857 IGFL2 0 genome.wustl.edu 37 19 46663963 46663963 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 46663963 46663963 G A SNP IGFL2 ENST00000434646 human ensembl 74_37 +1 known missense c.199 p.A67T 0.000 NULL NULL - no_errors IGFL2 HGNC ENSG00000204866 339 1 0.294118 251 98 28.0802 STRN4 0 genome.wustl.edu 37 19 47225520 47225520 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 47225520 47225520 G A SNP STRN4 ENST00000391910 human ensembl 74_37 -1 known missense c.2005 p.R669C 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Striatin_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors STRN4 HGNC ENSG00000090372 49 0 0 35 15 30 ODF3L2 0 genome.wustl.edu 37 19 474683 474683 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 474683 474683 G A SNP ODF3L2 ENST00000315489 human ensembl 74_37 -1 known missense c.65 p.T22M 0.003 NULL pfam_SHIPPO-rpt - no_errors ODF3L2 HGNC ENSG00000181781 18 0 0 16 3 15.7895 NAPA 0 genome.wustl.edu 37 19 47996337 47996337 + RNA SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 47996337 47996337 C T SNP NAPA ENST00000595826 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors NAPA HGNC ENSG00000105402 89 0 0 84 27 24.3243 LMTK3 0 genome.wustl.edu 37 19 49012113 49012113 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 49012113 49012113 C T SNP LMTK3 ENST00000270238 human ensembl 74_37 -1 known silent c.639 p.P213 0.036 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK3 HGNC ENSG00000142235 93 0 0 86 20 18.8679 HSD17B14 0 genome.wustl.edu 37 19 49316486 49316486 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 49316486 49316486 G A SNP HSD17B14 ENST00000263278 human ensembl 74_37 -1 known silent c.759 p.Y253 0.925 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HSD17B14 HGNC ENSG00000087076 13 0 0 12 6 33.3333 TULP2 0 genome.wustl.edu 37 19 49391390 49391390 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 49391390 49391390 G A SNP TULP2 ENST00000221399 human ensembl 74_37 -1 known silent c.765 p.H255 0.001 NULL pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C,prints_Tubby_N - no_errors TULP2 HGNC ENSG00000104804 47 0 0 30 7 18.9189 PRR12 0 genome.wustl.edu 37 19 50105065 50105065 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 50105065 50105065 G A SNP PRR12 ENST00000418929 human ensembl 74_37 +1 novel missense c.4663 p.A1555T 1.000 NULL NULL - no_errors PRR12 HGNC ENSG00000126464 35 0 0 42 8 16 SCAF1 0 genome.wustl.edu 37 19 50156708 50156708 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 50156708 50156708 C T SNP SCAF1 ENST00000360565 human ensembl 74_37 +1 known missense c.3062 p.A1021V 0.002 NULL NULL - no_errors SCAF1 HGNC ENSG00000126461 11 0 0 12 6 33.3333 IRF3 0 genome.wustl.edu 37 19 50165476 50165476 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 50165476 50165476 C T SNP IRF3 ENST00000309877 human ensembl 74_37 -1 known silent c.711 p.T237 0.000 pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF3 HGNC ENSG00000126456 54 0 0 43 16 27.1186 POLD1 0 genome.wustl.edu 37 19 50916998 50916998 + Splice_Site SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 50916998 50916998 G T SNP POLD1 ENST00000440232 human ensembl 74_37 +1 known splice_site c.2251-1 e18-1 1.000 - - - no_errors POLD1 HGNC ENSG00000062822 113 0 0 98 37 27.4074 KDM4B 0 genome.wustl.edu 37 19 5111399 5111399 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 5111399 5111399 G A SNP KDM4B ENST00000381759 human ensembl 74_37 +1 known missense c.1129 p.V377I 0.000 NULL pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4B HGNC ENSG00000127663 69 0 0 111 7 5.9322 PTPRS 0 genome.wustl.edu 37 19 5212381 5212381 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 5212381 5212381 G A SNP PTPRS ENST00000372412 human ensembl 74_37 -1 known missense c.4739 p.P1580L 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 14 0 0 12 9 42.8571 FPR1 0 genome.wustl.edu 37 19 52249833 52249833 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 52249833 52249833 C T SNP FPR1 ENST00000304748 human ensembl 74_37 -1 known missense c.415 p.V139M 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt - no_errors FPR1 HGNC ENSG00000171051 71 0 0 56 15 21.1268 MYADM 0 genome.wustl.edu 37 19 54377407 54377407 + Silent SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 54377407 54377407 G T SNP MYADM ENST00000336967 human ensembl 74_37 +1 known silent c.624 p.A208 0.969 pfam_Marvel pfam_Marvel - no_errors MYADM HGNC ENSG00000179820 217 0 0 190 10 5 PRKCG 0 genome.wustl.edu 37 19 54395051 54395051 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 54395051 54395051 C T SNP PRKCG ENST00000540413 human ensembl 74_37 +1 known missense c.653 p.T218M 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pirsf_Protein_kinase_C_a/b/g,prints_C2_dom,pfscan_C2_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,prints_DAG/PE-bd,prints_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors PRKCG HGNC ENSG00000126583 53 0 0 33 17 34 LILRB2 0 genome.wustl.edu 37 19 54783647 54783647 + Silent SNP T T G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 54783647 54783647 T G SNP LILRB2 ENST00000391749 human ensembl 74_37 -1 known silent c.354 p.T118 0.856 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB2 HGNC ENSG00000131042 80 0 0 85 6 6.59341 LILRB1 0 genome.wustl.edu 37 19 55145093 55145093 + Silent SNP G G C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 55145093 55145093 G C SNP LILRB1 ENST00000324602 human ensembl 74_37 +1 known silent c.1266 p.P422 0.000 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB1 HGNC ENSG00000104972 14 0 0 12 4 25 LILRP2 0 genome.wustl.edu 37 19 55222106 55222106 + RNA SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 55222106 55222106 G A SNP LILRP2 ENST00000413439 human ensembl 74_37 +1 known rna NULL NULL 0.024 - - - no_errors LILRP2 HGNC ENSG00000170858 126 0 0 93 38 29.0076 NLRP7 0 genome.wustl.edu 37 19 55449463 55449463 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 55449463 55449463 C T SNP NLRP7 ENST00000446217 human ensembl 74_37 -1 known missense c.2162 p.R721Q 0.746 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP7 HGNC ENSG00000167634 250 0 0 129 48 27.1186 ENSG00000269275 0 genome.wustl.edu 37 19 55889129 55889129 + RNA SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 55889129 55889129 G A SNP ENSG00000269275 ENST00000595064 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2105E13.15 Clone_based_vega_gene ENSG00000269275 34 0 0 38 10 20.8333 NLRP11 0 genome.wustl.edu 37 19 56321602 56321602 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 56321602 56321602 G A SNP NLRP11 ENST00000443188 human ensembl 74_37 -1 known missense c.374 p.S125L 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP11 HGNC ENSG00000179873 44 0 0 22 11 33.3333 NLRP4 0 genome.wustl.edu 37 19 56363623 56363623 + Missense_Mutation SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 56363623 56363623 G T SNP NLRP4 ENST00000301295 human ensembl 74_37 +1 known missense c.177 p.L59F 0.005 pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP4 HGNC ENSG00000160505 56 0 0 33 2 5.71429 ZSCAN5C 0 genome.wustl.edu 37 19 56718536 56718536 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 56718536 56718536 C T SNP ZSCAN5C ENST00000376267 human ensembl 74_37 +1 known missense c.493 p.R165W 0.005 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN5C HGNC ENSG00000204532 18 0 0 14 8 36.3636 ZNF460 0 genome.wustl.edu 37 19 57803241 57803241 + Silent SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 57803241 57803241 A G SNP ZNF460 ENST00000360338 human ensembl 74_37 +1 known silent c.1332 p.G444 0.962 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF460 HGNC ENSG00000197714 61 0 0 45 12 21.0526 ZNF772 0 genome.wustl.edu 37 19 57986509 57986509 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 57986509 57986509 T C SNP ZNF772 ENST00000343280 human ensembl 74_37 -1 known missense c.205 p.T69A 0.004 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF772 HGNC ENSG00000197128 127 0 0 66 28 29.7872 ZNF587 0 genome.wustl.edu 37 19 58370824 58370824 + Silent SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 58370824 58370824 A G SNP ZNF587 ENST00000339656 human ensembl 74_37 +1 known silent c.1044 p.G348 0.988 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF587 HGNC ENSG00000198466 124 0 0 72 27 27.2727 ZNF497 0 genome.wustl.edu 37 19 58868276 58868276 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 58868276 58868276 G A SNP ZNF497 ENST00000311044 human ensembl 74_37 -1 known silent c.726 p.G242 0.996 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF497 HGNC ENSG00000174586 8 0 0 9 4 30.7692 ZNF837 0 genome.wustl.edu 37 19 58879828 58879828 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 58879828 58879828 C T SNP ZNF837 ENST00000427624 human ensembl 74_37 -1 known missense c.872 p.R291H 0.997 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF837 HGNC ENSG00000152475 14 0 0 20 3 13.0435 HCN2 0 genome.wustl.edu 37 19 605121 605121 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 605121 605121 A G SNP HCN2 ENST00000251287 human ensembl 74_37 +1 known missense c.1117 p.M373V 1.000 pfam_Ion_trans_dom pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN2 HGNC ENSG00000099822 93 0 0 90 37 29.1339 HCN2 0 genome.wustl.edu 37 19 613949 613949 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 613949 613949 G A SNP HCN2 ENST00000251287 human ensembl 74_37 +1 known silent c.1923 p.V641 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN2 HGNC ENSG00000099822 58 0 0 70 8 10.2564 ARHGEF18 0 genome.wustl.edu 37 19 7531811 7531811 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 7531811 7531811 C T SNP ARHGEF18 ENST00000359920 human ensembl 74_37 +1 known missense c.2348 p.A783V 0.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF18 HGNC ENSG00000104880 89 0 0 80 31 27.9279 FBN3 0 genome.wustl.edu 37 19 8203327 8203327 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 8203327 8203327 C T SNP FBN3 ENST00000270509 human ensembl 74_37 -1 known silent c.987 p.P329 0.000 pfam_TB_dom,superfamily_TB_dom,pirsf_FBN pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 36 0 0 37 20 35.0877 POU3F3 0 genome.wustl.edu 37 2 105472966 105472966 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 105472966 105472966 G A SNP POU3F3 ENST00000361360 human ensembl 74_37 +1 known missense c.998 p.R333H 1.000 pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pirsf_Transcription_factor_POU,pfscan_POU_specific,prints_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU3F3 HGNC ENSG00000198914 59 0 0 61 8 11.5942 IL36A 0 genome.wustl.edu 37 2 113765559 113765559 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 113765559 113765559 A G SNP IL36A ENST00000259211 human ensembl 74_37 +1 known missense c.415 p.I139V 0.004 pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1_beta pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1,prints_IL-1_alpha/beta,prints_IL-1_beta - no_errors IL36A HGNC ENSG00000136694 47 0 0 23 5 17.8571 GREB1 0 genome.wustl.edu 37 2 11751001 11751001 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 11751001 11751001 C T SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known silent c.2854 p.L952 1.000 NULL superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 37 0 0 29 7 19.4444 GREB1 0 genome.wustl.edu 37 2 11777870 11777870 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 11777870 11777870 C T SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known missense c.5375 p.P1792L 1.000 NULL superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 90 0 0 72 11 13.253 ARHGAP15 0 genome.wustl.edu 37 2 144194565 144194565 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 144194565 144194565 C T SNP ARHGAP15 ENST00000295095 human ensembl 74_37 +1 known silent c.657 p.Y219 0.082 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP15 HGNC ENSG00000075884 39 0 0 9 6 40 TPO 0 genome.wustl.edu 37 2 1481016 1481016 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 1481016 1481016 G A SNP TPO ENST00000329066 human ensembl 74_37 +1 known silent c.978 p.A326 0.004 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC ENSG00000115705 18 0 0 12 8 40 PRPF40A 0 genome.wustl.edu 37 2 153519623 153519623 + Nonsense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 153519623 153519623 G A SNP PRPF40A ENST00000410080 human ensembl 74_37 -1 known nonsense c.2152 p.R718* 0.978 superfamily_FF_domain,smart_FF_domain pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom,prints_Antifreeze_1 - no_errors PRPF40A HGNC ENSG00000196504 26 0 0 9 4 30.7692 TANC1 0 genome.wustl.edu 37 2 160035383 160035383 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 160035383 160035383 A G SNP TANC1 ENST00000263635 human ensembl 74_37 +1 known missense c.2219 p.Q740R 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC1 HGNC ENSG00000115183 217 0 0 152 28 15.5556 IFIH1 0 genome.wustl.edu 37 2 163128888 163128888 + Nonsense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 163128888 163128888 G A SNP IFIH1 ENST00000263642 human ensembl 74_37 -1 known nonsense c.2464 p.R822* 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_CARD,superfamily_P-loop_NTPase,superfamily_DEATH-like_dom,superfamily_ARM-type_fold,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors IFIH1 HGNC ENSG00000115267 36 0 0 23 6 20.6897 FIGN 0 genome.wustl.edu 37 2 164466291 164466291 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 164466291 164466291 C T SNP FIGN ENST00000333129 human ensembl 74_37 -1 known missense c.2051 p.R684H 1.000 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors FIGN HGNC ENSG00000182263 45 0 0 14 19 57.5758 PXDN 0 genome.wustl.edu 37 2 1648403 1648403 + Nonsense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 1648403 1648403 G A SNP PXDN ENST00000252804 human ensembl 74_37 -1 known nonsense c.3730 p.R1244* 0.676 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 63 0 0 39 4 9.30233 DYNC1I2 0 genome.wustl.edu 37 2 172563873 172563873 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 172563873 172563873 C T SNP DYNC1I2 ENST00000397119 human ensembl 74_37 +1 known silent c.321 p.G107 0.971 NULL pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I2 HGNC ENSG00000077380 74 0 0 28 13 31.7073 SLC25A12 0 genome.wustl.edu 37 2 172647993 172647993 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 172647993 172647993 C T SNP SLC25A12 ENST00000422440 human ensembl 74_37 -1 known missense c.1553 p.G518D 0.999 superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A12 HGNC ENSG00000115840 89 0 0 38 9 19.1489 SMC6 0 genome.wustl.edu 37 2 17877597 17877597 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 17877597 17877597 T C SNP SMC6 ENST00000381272 human ensembl 74_37 -1 known missense c.2569 p.K857E 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors SMC6 HGNC ENSG00000163029 24 0 0 3 7 70 TTN 0 genome.wustl.edu 37 2 179427803 179427803 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 179427803 179427803 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.75352 p.V25118I 0.556 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_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_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 150 0 0 91 18 16.5138 TTN 0 genome.wustl.edu 37 2 179440987 179440987 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 179440987 179440987 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.62168 p.T20723I 0.993 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,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_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_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 29 0 0 12 5 29.4118 HIBCH 0 genome.wustl.edu 37 2 191161624 191161624 + Missense_Mutation SNP C C A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 191161624 191161624 C A SNP HIBCH ENST00000359678 human ensembl 74_37 -1 known missense c.134 p.C45F 1.000 NULL pfam_Crotonase_core_superfam - no_errors HIBCH HGNC ENSG00000198130 39 0 0 29 2 6.45161 DNAH7 0 genome.wustl.edu 37 2 196822106 196822106 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 196822106 196822106 G A SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.2957 p.T986M 0.994 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 39 0 0 23 15 39.4737 NDUFB3 0 genome.wustl.edu 37 2 201950183 201950183 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 201950183 201950183 A G SNP NDUFB3 ENST00000237889 human ensembl 74_37 +1 known missense c.142 p.N48D 1.000 pfam_NDUFB3 pfam_NDUFB3 - no_errors NDUFB3 HGNC ENSG00000119013 45 0 0 18 4 18.1818 CDK15 0 genome.wustl.edu 37 2 202671472 202671472 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 202671472 202671472 C T SNP CDK15 ENST00000374598 human ensembl 74_37 +1 known missense c.85 p.R29W 0.008 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK15 HGNC ENSG00000138395 37 0 0 21 4 16 ADAM23 0 genome.wustl.edu 37 2 207413068 207413068 + Missense_Mutation SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 207413068 207413068 G T SNP ADAM23 ENST00000264377 human ensembl 74_37 +1 known missense c.857 p.R286I 1.000 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM23 HGNC ENSG00000114948 69 0 0 19 11 36.6667 ADAM23 0 genome.wustl.edu 37 2 207459518 207459518 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 207459518 207459518 G A SNP ADAM23 ENST00000264377 human ensembl 74_37 +1 known silent c.2136 p.T712 0.205 smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM23 HGNC ENSG00000114948 82 0 0 34 10 22.7273 ABCA12 0 genome.wustl.edu 37 2 215809791 215809791 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 215809791 215809791 C T SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known missense c.7277 p.R2426Q 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 56 0 0 18 6 25 ABCA12 0 genome.wustl.edu 37 2 215914482 215914482 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 215914482 215914482 G A SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known silent c.561 p.S187 0.084 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 41 0 0 9 4 30.7692 IHH 0 genome.wustl.edu 37 2 219920419 219920419 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 219920419 219920419 C T SNP IHH ENST00000295731 human ensembl 74_37 -1 known missense c.746 p.R249H 0.991 pirsf_Hedgehog,pfam_Hint_dom,smart_Hint_dom_N,pfscan_Intein_splice_site pirsf_Hedgehog,pfam_Hedgehog_signaling_dom,pfam_Hint_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,smart_Hint_dom_N,smart_Hint_dom_C,prints_Hedgehog,pfscan_Intein_splice_site - no_errors IHH HGNC ENSG00000163501 55 0 0 38 19 33.3333 NYAP2 0 genome.wustl.edu 37 2 226447162 226447162 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 226447162 226447162 C T SNP NYAP2 ENST00000272907 human ensembl 74_37 +1 known silent c.1029 p.P343 0.007 NULL NULL - no_errors NYAP2 HGNC ENSG00000144460 65 0 0 43 21 32.8125 SP140 0 genome.wustl.edu 37 2 231150516 231150516 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 231150516 231150516 C T SNP SP140 ENST00000392045 human ensembl 74_37 +1 known silent c.1614 p.N538 0.004 NULL pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom,pfscan_Bromodomain - no_errors SP140 HGNC ENSG00000079263 147 0 0 54 7 11.4754 GPR55 0 genome.wustl.edu 37 2 231775308 231775308 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 231775308 231775308 G A SNP GPR55 ENST00000392039 human ensembl 74_37 -1 known missense c.370 p.R124C 0.896 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR55 HGNC ENSG00000135898 32 0 0 30 5 14.2857 ARL4C 0 genome.wustl.edu 37 2 235405084 235405084 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 235405084 235405084 G A SNP ARL4C ENST00000339728 human ensembl 74_37 -1 known silent c.147 p.T49 0.999 pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARL4C HGNC ENSG00000188042 82 0 0 58 13 18.3099 COL6A3 0 genome.wustl.edu 37 2 238280505 238280505 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 238280505 238280505 G A SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known silent c.4155 p.P1385 0.006 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 80 0 0 52 25 32.4675 ESPNL 0 genome.wustl.edu 37 2 239040289 239040289 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 239040289 239040289 C T SNP ESPNL ENST00000343063 human ensembl 74_37 +1 known silent c.2934 p.N978 0.999 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ESPNL HGNC ENSG00000144488 41 0 0 33 8 19.5122 PER2 0 genome.wustl.edu 37 2 239162198 239162198 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 239162198 239162198 C T SNP PER2 ENST00000254657 human ensembl 74_37 -1 known silent c.2466 p.P822 0.001 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER2 HGNC ENSG00000132326 12 0 0 13 9 40.9091 HDAC4 0 genome.wustl.edu 37 2 240085512 240085512 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 240085512 240085512 G A SNP HDAC4 ENST00000345617 human ensembl 74_37 -1 known missense c.598 p.R200C 1.000 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC4 HGNC ENSG00000068024 89 0 0 66 11 14.2857 GPR35 0 genome.wustl.edu 37 2 241570285 241570285 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 241570285 241570285 G A SNP GPR35 ENST00000438013 human ensembl 74_37 +1 known missense c.1009 p.V337M 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR35 HGNC ENSG00000178623 84 0 0 53 36 40.4494 PASK 0 genome.wustl.edu 37 2 242080005 242080005 + Silent SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 242080005 242080005 T C SNP PASK ENST00000358649 human ensembl 74_37 -1 known silent c.360 p.S120 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAS_fold,superfamily_Kinase-like_dom,superfamily_PAS,smart_PAS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAS,pfscan_Prot_kinase_dom,tigrfam_PAS - no_errors PASK HGNC ENSG00000115687 44 0 0 23 16 41.0256 HADHB 0 genome.wustl.edu 37 2 26502949 26502949 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 26502949 26502949 A G SNP HADHB ENST00000317799 human ensembl 74_37 +1 known missense c.899 p.Y300C 1.000 pfam_Thiolase_N,superfamily_Thiolase-like,tigrfam_Thiolase pfam_Thiolase_N,pfam_Thiolase_C,pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,tigrfam_Thiolase - no_errors HADHB HGNC ENSG00000138029 110 1 0.900901 55 3 5.17241 KCNK3 0 genome.wustl.edu 37 2 26950776 26950776 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 26950776 26950776 C T SNP KCNK3 ENST00000302909 human ensembl 74_37 +1 known silent c.525 p.A175 0.646 pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK,prints_KCNK3,prints_2pore_dom_K_chnl - no_errors KCNK3 HGNC ENSG00000171303 36 0 0 37 9 19.5652 NRBP1 0 genome.wustl.edu 37 2 27663726 27663726 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 27663726 27663726 G A SNP NRBP1 ENST00000233557 human ensembl 74_37 +1 known silent c.1248 p.Q416 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors NRBP1 HGNC ENSG00000115216 86 0 0 80 7 8.04598 NRBP1 0 genome.wustl.edu 37 2 27664014 27664014 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 27664014 27664014 C T SNP NRBP1 ENST00000233557 human ensembl 74_37 +1 known silent c.1350 p.N450 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors NRBP1 HGNC ENSG00000115216 334 0 0 158 58 26.8519 IFT172 0 genome.wustl.edu 37 2 27688653 27688653 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 27688653 27688653 T C SNP IFT172 ENST00000260570 human ensembl 74_37 -1 known missense c.1789 p.I597V 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC ENSG00000138002 562 0 0 374 32 7.88177 CRIM1 0 genome.wustl.edu 37 2 36668566 36668566 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 36668566 36668566 C T SNP CRIM1 ENST00000280527 human ensembl 74_37 +1 known missense c.671 p.P224L 1.000 NULL pfam_VWF_C,pfam_Antistasin-like,superfamily_Hirudin/antistatin,smart_IGFBP-like,smart_VWC_out,smart_VWF_C,pfscan_VWF_C - no_errors CRIM1 HGNC ENSG00000150938 116 0 0 77 22 22.2222 EIF2AK2 0 genome.wustl.edu 37 2 37353552 37353552 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 37353552 37353552 A G SNP EIF2AK2 ENST00000233057 human ensembl 74_37 -1 known missense c.788 p.F263S 0.859 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_dsRNA-bd_dom,superfamily_Kinase-like_dom,smart_dsRNA-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_dsRNA-bd_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EIF2AK2 HGNC ENSG00000055332 75 0 0 28 8 22.2222 TTC7A 0 genome.wustl.edu 37 2 47278950 47278950 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 47278950 47278950 C T SNP TTC7A ENST00000319190 human ensembl 74_37 +1 known missense c.2083 p.P695S 0.913 NULL pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC7A HGNC ENSG00000068724 41 0 0 24 22 47.8261 BCL11A 0 genome.wustl.edu 37 2 60688523 60688523 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 60688523 60688523 G A SNP BCL11A ENST00000335712 human ensembl 74_37 -1 known silent c.1524 p.S508 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11A HGNC ENSG00000119866 17 0 0 10 5 33.3333 CTNNA2 0 genome.wustl.edu 37 2 80136848 80136848 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 80136848 80136848 G A SNP CTNNA2 ENST00000361291 human ensembl 74_37 +1 known silent c.1083 p.R361 0.839 pfam_Vinculin/catenin,prints_Alpha_catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 69 0 0 51 15 22.7273 POLR1A 0 genome.wustl.edu 37 2 86305045 86305045 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 86305045 86305045 G A SNP POLR1A ENST00000263857 human ensembl 74_37 -1 known silent c.1317 p.Y439 0.036 pfam_RNA_pol_asu,smart_RNA_pol_N pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N - no_errors POLR1A HGNC ENSG00000068654 207 1 0.480769 151 8 5.03145 ADAM17 0 genome.wustl.edu 37 2 9630357 9630357 + Silent SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 9630357 9630357 G T SNP ADAM17 ENST00000310823 human ensembl 74_37 -1 known silent c.2424 p.S808 0.979 NULL pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM17 HGNC ENSG00000151694 43 0 0 25 8 24.2424 SPTLC3 0 genome.wustl.edu 37 20 13053052 13053052 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 20 13053052 13053052 C T SNP SPTLC3 ENST00000399002 human ensembl 74_37 +1 known missense c.452 p.T151M 1.000 superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase - no_errors SPTLC3 HGNC ENSG00000172296 158 0 0 95 48 33.5664 RRBP1 0 genome.wustl.edu 37 20 17617341 17617341 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 20 17617341 17617341 C T SNP RRBP1 ENST00000246043 human ensembl 74_37 -1 known missense c.2218 p.G740R 0.973 NULL pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom - no_errors RRBP1 HGNC ENSG00000125844 102 0 0 76 44 36.6667 PAX1 0 genome.wustl.edu 37 20 21687400 21687400 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 20 21687400 21687400 G A SNP PAX1 ENST00000398485 human ensembl 74_37 +1 known missense c.611 p.G204D 1.000 pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX1 HGNC ENSG00000125813 55 0 0 104 9 7.9646 FASTKD5 0 genome.wustl.edu 37 20 3129630 3129630 + Silent SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 20 3129630 3129630 T C SNP FASTKD5 ENST00000380266 human ensembl 74_37 -1 known silent c.87 p.S29 0.000 NULL pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD5 HGNC ENSG00000215251 105 0 0 52 24 31.5789 MYH7B 0 genome.wustl.edu 37 20 33572917 33572917 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 20 33572917 33572917 G A SNP MYH7B ENST00000262873 human ensembl 74_37 +1 novel missense c.916 p.A306T 0.992 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7B HGNC ENSG00000078814 92 0 0 88 25 22.1239 FAM83C 0 genome.wustl.edu 37 20 33876355 33876355 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 20 33876355 33876355 A G SNP FAM83C ENST00000374408 human ensembl 74_37 -1 known missense c.715 p.Y239H 0.996 pfam_DUF1669 pfam_DUF1669 - no_errors FAM83C HGNC ENSG00000125998 57 0 0 55 12 17.9104 SPAG4 0 genome.wustl.edu 37 20 34206915 34206915 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 20 34206915 34206915 C T SNP SPAG4 ENST00000374273 human ensembl 74_37 +1 known missense c.788 p.S263F 1.000 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SPAG4 HGNC ENSG00000061656 55 0 0 55 17 23.6111 SIGLEC1 0 genome.wustl.edu 37 20 3678776 3678776 + Silent SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 20 3678776 3678776 G T SNP SIGLEC1 ENST00000344754 human ensembl 74_37 -1 known silent c.1791 p.P597 0.999 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC1 HGNC ENSG00000088827 11 0 0 4 6 60 JPH2 0 genome.wustl.edu 37 20 42788504 42788504 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 20 42788504 42788504 C T SNP JPH2 ENST00000372980 human ensembl 74_37 -1 known missense c.923 p.R308H 1.000 pfam_MORN,smart_MORN,pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH2 HGNC ENSG00000149596 37 0 0 26 14 35 R3HDML 0 genome.wustl.edu 37 20 42973914 42973914 + Silent SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 20 42973914 42973914 A G SNP R3HDML ENST00000217043 human ensembl 74_37 +1 known silent c.525 p.A175 0.255 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors R3HDML HGNC ENSG00000101074 194 0 0 194 15 7.17703 PREX1 0 genome.wustl.edu 37 20 47269921 47269921 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 20 47269921 47269921 C T SNP PREX1 ENST00000371941 human ensembl 74_37 -1 known missense c.2324 p.R775Q 1.000 smart_PDZ pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX1 HGNC ENSG00000124126 126 0 0 109 28 20.438 CSE1L 0 genome.wustl.edu 37 20 47688929 47688929 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 20 47688929 47688929 G A SNP CSE1L ENST00000262982 human ensembl 74_37 +1 known missense c.875 p.R292H 1.000 pfam_Cse1,superfamily_ARM-type_fold pfam_CAS_CSE1_C,pfam_Cse1,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors CSE1L HGNC ENSG00000124207 77 0 0 39 21 35 KCNB1 0 genome.wustl.edu 37 20 47991257 47991257 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 20 47991257 47991257 G A SNP KCNB1 ENST00000371741 human ensembl 74_37 -1 known silent c.840 p.T280 0.052 pfam_Ion_trans_dom pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.1,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB1 HGNC ENSG00000158445 88 0 0 82 21 20.3883 AURKA 0 genome.wustl.edu 37 20 54956591 54956591 + Silent SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 20 54956591 54956591 A G SNP AURKA ENST00000312783 human ensembl 74_37 -1 known silent c.603 p.H201 0.930 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors AURKA HGNC ENSG00000087586 63 0 0 31 3 8.82353 RTFDC1 0 genome.wustl.edu 37 20 55059239 55059239 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 20 55059239 55059239 C T SNP RTFDC1 ENST00000357348 human ensembl 74_37 +1 known silent c.561 p.C187 0.993 pfam_Rtf2_RING-finger pfam_Rtf2_RING-finger - no_errors RTFDC1 HGNC ENSG00000022277 110 0 0 57 18 24 CTSZ 0 genome.wustl.edu 37 20 57576650 57576650 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 20 57576650 57576650 G A SNP CTSZ ENST00000217131 human ensembl 74_37 -1 known silent c.357 p.S119 0.000 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSZ HGNC ENSG00000101160 76 0 0 77 19 19.7917 HELZ2 0 genome.wustl.edu 37 20 62200909 62200909 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 20 62200909 62200909 C T SNP HELZ2 ENST00000467148 human ensembl 74_37 -1 known missense c.680 p.R227H 0.005 NULL superfamily_P-loop_NTPase - no_errors HELZ2 HGNC ENSG00000130589 9 0 0 11 2 15.3846 ZBTB46 0 genome.wustl.edu 37 20 62421541 62421541 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 20 62421541 62421541 G A SNP ZBTB46 ENST00000245663 human ensembl 74_37 -1 known silent c.570 p.H190 0.283 NULL pfam_BTB_POZ,pfam_DUF3342,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB46 HGNC ENSG00000130584 29 0 0 22 5 18.5185 UCKL1 0 genome.wustl.edu 37 20 62572046 62572046 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 20 62572046 62572046 G A SNP UCKL1 ENST00000358711 human ensembl 74_37 -1 known missense c.1252 p.R418C 0.052 NULL pfam_PRK/URK,pfam_CPT,superfamily_P-loop_NTPase,prints_Uridine_kinase,prints_PRK,tigrfam_Uridine_kinase - no_errors UCKL1 HGNC ENSG00000198276 21 0 0 12 7 36.8421 DEFB125 0 genome.wustl.edu 37 20 76838 76838 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 20 76838 76838 A G SNP DEFB125 ENST00000382410 human ensembl 74_37 +1 known missense c.251 p.D84G 0.000 NULL NULL - no_errors DEFB125 HGNC ENSG00000178591 159 0 0 61 10 14.0845 HAO1 0 genome.wustl.edu 37 20 7866403 7866403 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 20 7866403 7866403 C T SNP HAO1 ENST00000378789 human ensembl 74_37 -1 known missense c.922 p.A308T 1.000 pfam_FMN-dep_DH,pfam_Glu_synth_centr_C,pirsf_Alpha-hydoxy_acid_DH_FMN pfam_FMN-dep_DH,pfam_Glu_synth_centr_C,pirsf_Alpha-hydoxy_acid_DH_FMN - no_errors HAO1 HGNC ENSG00000101323 145 0 0 74 34 31.4815 PLCB4 0 genome.wustl.edu 37 20 9360776 9360776 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 20 9360776 9360776 A G SNP PLCB4 ENST00000334005 human ensembl 74_37 +1 known missense c.820 p.M274V 1.000 pirsf_PLC-beta,pfam_PLipase_C_EF-hand-like pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB4 HGNC ENSG00000101333 43 0 0 19 2 9.52381 KRTAP8-1 0 genome.wustl.edu 37 21 32185383 32185383 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 21 32185383 32185383 G A SNP KRTAP8-1 ENST00000329621 human ensembl 74_37 -1 known silent c.156 p.F52 0.000 pfam_KRTAP_type6/8/16/19/20 pfam_KRTAP_type6/8/16/19/20 - no_errors KRTAP8-1 HGNC ENSG00000183640 121 1 0.819672 84 22 20.7547 SCAF4 0 genome.wustl.edu 37 21 33073415 33073415 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 21 33073415 33073415 T C SNP SCAF4 ENST00000286835 human ensembl 74_37 -1 known missense c.670 p.M224V 1.000 NULL pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF4 HGNC ENSG00000156304 59 0 0 32 6 15.7895 MRAP 0 genome.wustl.edu 37 21 33684248 33684248 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 21 33684248 33684248 G A SNP MRAP ENST00000303645 human ensembl 74_37 +1 known missense c.460 p.V154I 0.000 NULL NULL - no_errors MRAP HGNC ENSG00000170262 67 0 0 50 19 27.5362 GART 0 genome.wustl.edu 37 21 34907049 34907049 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 21 34907049 34907049 C T SNP GART ENST00000381815 human ensembl 74_37 -1 known silent c.252 p.G84 0.974 pfam_PRibGlycinamide_synth_N,superfamily_PreATP-grasp_dom,tigrfam_PRibGlycinamide_synth pfam_PRibGlycinamid_synth_ATP-grasp,pfam_Formyl_transf_N,pfam_PRibGlycinamide_synth_N,pfam_AIR_synth_C_dom,pfam_PRibGlycinamide_synth_C-dom,pfam_AIR_synth_N_dom,pfam_ATP-grasp_carboxylate-amine,pfam_CbamoylP_synth_lsu-like_ATP-bd,superfamily_Formyl_transf_N,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth,tigrfam_PurM_cligase,tigrfam_PurN_trans - no_errors GART HGNC ENSG00000159131 38 0 0 21 7 25 PIGP 0 genome.wustl.edu 37 21 38437852 38437852 + RNA SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 21 38437852 38437852 G A SNP PIGP ENST00000329667 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors PIGP HGNC ENSG00000185808 20 0 0 15 2 11.7647 TTC3 0 genome.wustl.edu 37 21 38497038 38497038 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 21 38497038 38497038 T C SNP TTC3 ENST00000354749 human ensembl 74_37 +1 known missense c.1229 p.L410P 0.001 NULL pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 45 0 0 9 6 40 DSCR3 0 genome.wustl.edu 37 21 38610738 38610738 + RNA SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 21 38610738 38610738 G A SNP DSCR3 ENST00000492514 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors DSCR3 HGNC ENSG00000157538 46 0 0 49 8 14.0351 NDUFV3 0 genome.wustl.edu 37 21 44324109 44324109 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 21 44324109 44324109 G A SNP NDUFV3 ENST00000354250 human ensembl 74_37 +1 known silent c.987 p.A329 0.000 NULL NULL - no_errors NDUFV3 HGNC ENSG00000160194 33 0 0 31 5 13.8889 KRTAP12-2 0 genome.wustl.edu 37 21 46086745 46086745 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 21 46086745 46086745 C T SNP KRTAP12-2 ENST00000360770 human ensembl 74_37 -1 known missense c.59 p.C20Y 0.999 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP12-2 HGNC ENSG00000221864 28 0 0 42 6 12.5 COL6A2 0 genome.wustl.edu 37 21 47536294 47536294 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 21 47536294 47536294 G A SNP COL6A2 ENST00000300527 human ensembl 74_37 +1 known missense c.904 p.V302I 0.986 pfam_Collagen pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC ENSG00000142173 32 0 0 24 13 35.1351 COL6A2 0 genome.wustl.edu 37 21 47546072 47546072 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 21 47546072 47546072 G A SNP COL6A2 ENST00000300527 human ensembl 74_37 +1 known silent c.2343 p.Q781 0.938 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC ENSG00000142173 394 0 0 292 64 17.9775 UFD1L 0 genome.wustl.edu 37 22 19438229 19438229 + Silent SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 22 19438229 19438229 T C SNP UFD1L ENST00000263202 human ensembl 74_37 -1 known silent c.888 p.E296 1.000 NULL pfam_UFD1 - no_errors UFD1L HGNC ENSG00000070010 129 0 0 56 23 29.1139 CLDN5 0 genome.wustl.edu 37 22 19511360 19511360 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 22 19511360 19511360 G A SNP CLDN5 ENST00000403084 human ensembl 74_37 -1 known missense c.674 p.A225V 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin5 - no_errors CLDN5 HGNC ENSG00000184113 18 0 0 13 11 45.8333 RTN4R 0 genome.wustl.edu 37 22 20230610 20230610 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 22 20230610 20230610 G A SNP RTN4R ENST00000043402 human ensembl 74_37 -1 known silent c.46 p.L16 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors RTN4R HGNC ENSG00000040608 27 0 0 27 8 22.8571 CCDC116 0 genome.wustl.edu 37 22 21988981 21988981 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 22 21988981 21988981 T C SNP CCDC116 ENST00000292779 human ensembl 74_37 +1 known missense c.629 p.L210P 0.000 NULL NULL - no_errors CCDC116 HGNC ENSG00000161180 339 0 0 172 72 29.5082 GGTLC2 0 genome.wustl.edu 37 22 22989736 22989736 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 22 22989736 22989736 G A SNP GGTLC2 ENST00000448514 human ensembl 74_37 +1 known silent c.507 p.T169 0.962 pfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGTLC2 HGNC ENSG00000100121 21 0 0 14 7 33.3333 CABIN1 0 genome.wustl.edu 37 22 24560426 24560426 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 22 24560426 24560426 T C SNP CABIN1 ENST00000263119 human ensembl 74_37 +1 known missense c.4805 p.M1602T 1.000 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC ENSG00000099991 106 0 0 76 31 28.972 HPS4 0 genome.wustl.edu 37 22 26860141 26860141 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 22 26860141 26860141 C T SNP HPS4 ENST00000398141 human ensembl 74_37 -1 known silent c.1494 p.T498 0.000 NULL NULL - no_errors HPS4 HGNC ENSG00000100099 188 0 0 146 23 13.6095 TFIP11 0 genome.wustl.edu 37 22 26890185 26890185 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 22 26890185 26890185 T C SNP TFIP11 ENST00000405938 human ensembl 74_37 -1 known missense c.2078 p.Q693R 0.990 NULL pfam_GCFC_dom,pfam_TIP_N,pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors TFIP11 HGNC ENSG00000100109 98 0 0 37 21 36.2069 CHEK2 0 genome.wustl.edu 37 22 29090060 29090060 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 22 29090060 29090060 C T SNP CHEK2 ENST00000382580 human ensembl 74_37 -1 known missense c.1550 p.R517H 0.912 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_FHA_dom,superfamily_Kinase-like_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FHA_dom,pfscan_Prot_kinase_dom - no_errors CHEK2 HGNC ENSG00000183765 171 0 0 86 32 27.1186 EMID1 0 genome.wustl.edu 37 22 29621174 29621174 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 22 29621174 29621174 G A SNP EMID1 ENST00000334018 human ensembl 74_37 +1 known silent c.372 p.R124 0.087 NULL pfam_Collagen,pfam_EMI_domain,pfscan_EMI_domain - no_errors EMID1 HGNC ENSG00000186998 95 0 0 67 18 21.1765 PATZ1 0 genome.wustl.edu 37 22 31723054 31723054 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 22 31723054 31723054 G A SNP PATZ1 ENST00000266269 human ensembl 74_37 -1 known silent c.1887 p.V629 1.000 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors PATZ1 HGNC ENSG00000100105 90 0 0 94 25 21.0084 SLC5A4 0 genome.wustl.edu 37 22 32616985 32616985 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 22 32616985 32616985 G A SNP SLC5A4 ENST00000266086 human ensembl 74_37 -1 known missense c.1690 p.R564W 0.847 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A4 HGNC ENSG00000100191 81 0 0 46 8 14.8148 RFPL3 0 genome.wustl.edu 37 22 32754283 32754283 + Silent SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 22 32754283 32754283 T C SNP RFPL3 ENST00000249007 human ensembl 74_37 +1 known silent c.225 p.D75 0.001 pfam_RDM_domain_RFPL,pfscan_Znf_RING pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors RFPL3 HGNC ENSG00000128276 102 0 0 40 19 32.2034 IL2RB 0 genome.wustl.edu 37 22 37531453 37531453 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 22 37531453 37531453 C T SNP IL2RB ENST00000216223 human ensembl 74_37 -1 known missense c.733 p.G245S 0.000 NULL superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL2RB HGNC ENSG00000100385 100 0 0 63 19 23.1707 KCNJ4 0 genome.wustl.edu 37 22 38823343 38823343 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 22 38823343 38823343 G A SNP KCNJ4 ENST00000303592 human ensembl 74_37 -1 known silent c.795 p.I265 0.940 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.3 - no_errors KCNJ4 HGNC ENSG00000168135 58 0 0 41 23 35.9375 APOBEC3B 0 genome.wustl.edu 37 22 39381948 39381948 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 22 39381948 39381948 G A SNP APOBEC3B ENST00000333467 human ensembl 74_37 +1 known silent c.306 p.A102 0.000 pfam_APOBEC_N,superfamily_Cytidine_deaminase-like pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC3B HGNC ENSG00000179750 320 1 0.311526 219 77 26.0135 PDGFB 0 genome.wustl.edu 37 22 39627801 39627801 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 22 39627801 39627801 G A SNP PDGFB ENST00000331163 human ensembl 74_37 -1 known silent c.282 p.I94 0.825 pfam_PDGF_N,pfscan_PDGF/VEGF_dom pfam_PDGF/VEGF_dom,pfam_PDGF_N,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom - no_errors PDGFB HGNC ENSG00000100311 28 0 0 28 8 22.2222 MCHR1 0 genome.wustl.edu 37 22 41077613 41077613 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 22 41077613 41077613 G A SNP MCHR1 ENST00000249016 human ensembl 74_37 +1 known missense c.950 p.R317Q 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH1_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH1_rcpt,prints_MCH_rcpt,prints_GPCR_Rhodpsn - no_errors MCHR1 HGNC ENSG00000128285 59 0 0 42 18 30 ZC3H7B 0 genome.wustl.edu 37 22 41753226 41753226 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 22 41753226 41753226 C T SNP ZC3H7B ENST00000351589 human ensembl 74_37 +1 known silent c.2727 p.C909 0.967 pfam_Znf_CCCH,smart_Znf_CCCH pfam_Znf_CCCH,pfam_TPR_1,smart_TPR_repeat,smart_Znf_CCCH,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ZC3H7B HGNC ENSG00000100403 45 0 0 32 16 33.3333 SCUBE1 0 genome.wustl.edu 37 22 43623396 43623396 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 22 43623396 43623396 G A SNP SCUBE1 ENST00000360835 human ensembl 74_37 -1 known silent c.1191 p.N397 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors SCUBE1 HGNC ENSG00000159307 20 0 0 14 5 26.3158 EFCAB6 0 genome.wustl.edu 37 22 44063056 44063056 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 22 44063056 44063056 C T SNP EFCAB6 ENST00000262726 human ensembl 74_37 -1 known silent c.1911 p.P637 0.000 pfscan_EF_hand_dom pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFCAB6 HGNC ENSG00000186976 99 0 0 49 8 14.0351 CELSR1 0 genome.wustl.edu 37 22 46932131 46932131 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 22 46932131 46932131 G A SNP CELSR1 ENST00000262738 human ensembl 74_37 -1 known missense c.937 p.R313C 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 89 0 0 71 19 21.1111 BRD1 0 genome.wustl.edu 37 22 50192691 50192691 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 22 50192691 50192691 C T SNP BRD1 ENST00000216267 human ensembl 74_37 -1 known missense c.1601 p.R534H 0.997 NULL pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,prints_Bromodomain,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors BRD1 HGNC ENSG00000100425 35 0 0 36 13 26.5306 MOV10L1 0 genome.wustl.edu 37 22 50528910 50528910 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 22 50528910 50528910 G A SNP MOV10L1 ENST00000540615 human ensembl 74_37 +1 known silent c.6 p.S2 0.001 NULL superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold - no_errors MOV10L1 HGNC ENSG00000073146 17 0 0 13 3 18.75 CPT1B 0 genome.wustl.edu 37 22 51012809 51012809 + Missense_Mutation SNP T T G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 22 51012809 51012809 T G SNP CPT1B ENST00000312108 human ensembl 74_37 -1 known missense c.925 p.M309L 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CPT1B HGNC ENSG00000205560 23 0 0 27 9 25 SHANK3 0 genome.wustl.edu 37 22 51160556 51160556 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 22 51160556 51160556 C T SNP SHANK3 ENST00000262795 human ensembl 74_37 +1 known missense c.4343 p.P1448L 1.000 NULL pfam_SAM_type1,pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK3 HGNC ENSG00000251322 11 0 0 7 5 41.6667 TMPRSS7 0 genome.wustl.edu 37 3 111795816 111795816 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 3 111795816 111795816 C T SNP TMPRSS7 ENST00000419127 human ensembl 74_37 +1 known silent c.1671 p.H557 0.756 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors TMPRSS7 HGNC ENSG00000176040 240 0 0 141 29 17.0588 CCDC80 0 genome.wustl.edu 37 3 112358275 112358275 + Missense_Mutation SNP A A C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 3 112358275 112358275 A C SNP CCDC80 ENST00000206423 human ensembl 74_37 -1 known missense c.478 p.S160A 1.000 NULL NULL - no_errors CCDC80 HGNC ENSG00000091986 56 0 0 52 19 26.7606 BOC 0 genome.wustl.edu 37 3 112969433 112969433 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 3 112969433 112969433 G A SNP BOC ENST00000273395 human ensembl 74_37 +1 known silent c.129 p.A43 0.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors BOC HGNC ENSG00000144857 79 0 0 72 18 20 KIAA2018 0 genome.wustl.edu 37 3 113376119 113376119 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 3 113376119 113376119 C T SNP KIAA2018 ENST00000316407 human ensembl 74_37 -1 known silent c.4410 p.Q1470 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 30 0 0 33 6 15.3846 KIAA2018 0 genome.wustl.edu 37 3 113379374 113379374 + Silent SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 3 113379374 113379374 A G SNP KIAA2018 ENST00000316407 human ensembl 74_37 -1 known silent c.1155 p.P385 0.002 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 41 0 0 26 18 40.9091 PLXNA1 0 genome.wustl.edu 37 3 126730836 126730836 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 3 126730836 126730836 C T SNP PLXNA1 ENST00000393409 human ensembl 74_37 +1 known silent c.2148 p.Y716 0.975 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA1 HGNC ENSG00000114554 157 1 0.632911 91 61 40.1316 EEFSEC 0 genome.wustl.edu 37 3 128060255 128060255 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 3 128060255 128060255 A G SNP EEFSEC ENST00000254730 human ensembl 74_37 +1 known missense c.966 p.I322M 0.062 superfamily_Transl_elong_EF1A/Init_IF2_C pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom - no_errors EEFSEC HGNC ENSG00000132394 63 0 0 29 33 53.2258 PIK3R4 0 genome.wustl.edu 37 3 130447382 130447382 + Silent SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 3 130447382 130447382 A G SNP PIK3R4 ENST00000356763 human ensembl 74_37 -1 known silent c.1732 p.L578 0.250 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_WD40_repeat,pfam_HEAT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_WD40_repeat,pfscan_HEAT_type_2,pfscan_Prot_kinase_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PIK3R4 HGNC ENSG00000196455 45 0 0 16 16 50 DZIP1L 0 genome.wustl.edu 37 3 137822357 137822357 + Missense_Mutation SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 3 137822357 137822357 G T SNP DZIP1L ENST00000327532 human ensembl 74_37 -1 known missense c.457 p.L153M 1.000 NULL pfscan_Znf_C2H2 - no_errors DZIP1L HGNC ENSG00000158163 32 0 0 34 10 22.7273 PRR23B 0 genome.wustl.edu 37 3 138738987 138738987 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 3 138738987 138738987 C T SNP PRR23B ENST00000329447 human ensembl 74_37 -1 known missense c.517 p.G173S 0.000 pfam_UPF0572 pfam_UPF0572 - no_errors PRR23B HGNC ENSG00000184814 40 0 0 49 15 23.4375 ATP1B3 0 genome.wustl.edu 37 3 141632589 141632589 + Missense_Mutation SNP A A T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 3 141632589 141632589 A T SNP ATP1B3 ENST00000286371 human ensembl 74_37 +1 known missense c.442 p.I148F 0.000 pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta - no_errors ATP1B3 HGNC ENSG00000069849 138 0 0 50 5 9.09091 XPC 0 genome.wustl.edu 37 3 14220065 14220065 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 3 14220065 14220065 C T SNP XPC ENST00000285021 human ensembl 74_37 -1 known missense c.4 p.A2T 0.954 NULL pfam_Rad4/PNGase_transGLS-fold,pfam_Rad4_beta-hairpin_dom3,pfam_Rad4_beta-hairpin_dom2,pfam_Rad4_beta-hairpin_dom1,tigrfam_DNA_repair_Rad4_subgr - no_errors XPC HGNC ENSG00000154767 72 0 0 55 15 21.4286 ATR 0 genome.wustl.edu 37 3 142266679 142266679 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 3 142266679 142266679 C T SNP ATR ENST00000350721 human ensembl 74_37 -1 known missense c.3245 p.R1082H 1.000 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC ENSG00000175054 69 0 0 22 6 21.4286 PLS1 0 genome.wustl.edu 37 3 142388367 142388367 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 3 142388367 142388367 G A SNP PLS1 ENST00000337777 human ensembl 74_37 +1 known missense c.206 p.G69D 0.998 pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom pfam_CH-domain,pfam_EF_hand_dom,superfamily_CH-domain,smart_EF_hand_dom,smart_CH-domain,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors PLS1 HGNC ENSG00000120756 201 0 0 117 16 12.0301 TRPC1 0 genome.wustl.edu 37 3 142524988 142524988 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 3 142524988 142524988 C T SNP TRPC1 ENST00000476941 human ensembl 74_37 +1 known missense c.2293 p.R765C 1.000 tigrfam_TRP_channel pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC1 HGNC ENSG00000144935 67 0 0 31 3 8.82353 TRPC1 0 genome.wustl.edu 37 3 142525010 142525010 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 3 142525010 142525010 G A SNP TRPC1 ENST00000476941 human ensembl 74_37 +1 known missense c.2315 p.R772Q 1.000 tigrfam_TRP_channel pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC1 HGNC ENSG00000144935 63 0 0 27 3 10 ZIC4 0 genome.wustl.edu 37 3 147113919 147113919 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 3 147113919 147113919 G A SNP ZIC4 ENST00000525172 human ensembl 74_37 -1 known silent c.558 p.D186 0.049 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC4 HGNC ENSG00000174963 54 0 0 58 41 41.4141 MED12L 0 genome.wustl.edu 37 3 151105932 151105932 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 3 151105932 151105932 G A SNP MED12L ENST00000474524 human ensembl 74_37 +1 known missense c.5318 p.R1773H 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 34 0 0 22 14 38.8889 NCEH1 0 genome.wustl.edu 37 3 172351525 172351525 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 3 172351525 172351525 G A SNP NCEH1 ENST00000538775 human ensembl 74_37 -1 known missense c.1087 p.R363C 0.830 pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase - no_errors NCEH1 HGNC ENSG00000144959 46 0 0 26 15 36.5854 PEX5L 0 genome.wustl.edu 37 3 179537729 179537729 + Missense_Mutation SNP T T G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 3 179537729 179537729 T G SNP PEX5L ENST00000467460 human ensembl 74_37 -1 known missense c.858 p.E286D 1.000 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PEX5L HGNC ENSG00000114757 112 0 0 58 13 18.3099 YEATS2 0 genome.wustl.edu 37 3 183493770 183493770 + Silent SNP A A C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 3 183493770 183493770 A C SNP YEATS2 ENST00000305135 human ensembl 74_37 +1 known silent c.2436 p.G812 0.005 NULL pfam_YEATS,pfscan_YEATS - no_errors YEATS2 HGNC ENSG00000163872 52 0 0 50 9 15.2542 ABCC5 0 genome.wustl.edu 37 3 183699620 183699620 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 3 183699620 183699620 C T SNP ABCC5 ENST00000334444 human ensembl 74_37 -1 known missense c.1042 p.V348M 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC5 HGNC ENSG00000114770 46 0 0 32 6 15.7895 HTR3E 0 genome.wustl.edu 37 3 183824457 183824457 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 3 183824457 183824457 C T SNP HTR3E ENST00000335304 human ensembl 74_37 +1 known silent c.1392 p.T464 0.000 superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel - no_errors HTR3E HGNC ENSG00000186038 102 0 0 142 9 5.96026 ECE2 0 genome.wustl.edu 37 3 183994720 183994720 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 3 183994720 183994720 G A SNP ECE2 ENST00000402825 human ensembl 74_37 +1 known missense c.521 p.R174H 0.548 NULL pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C - no_errors ECE2 HGNC ENSG00000145194 71 0 0 39 23 37.0968 BCL6 0 genome.wustl.edu 37 3 187442794 187442794 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 3 187442794 187442794 G A SNP BCL6 ENST00000232014 human ensembl 74_37 -1 known missense c.1912 p.R638C 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors BCL6 HGNC ENSG00000113916 74 0 0 50 27 35.0649 MUC20 0 genome.wustl.edu 37 3 195453249 195453249 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 3 195453249 195453249 T C SNP MUC20 ENST00000447234 human ensembl 74_37 +1 known missense c.1775 p.M592T 0.001 NULL NULL - no_errors MUC20 HGNC ENSG00000176945 42 0 0 45 6 11.7647 WDR53 0 genome.wustl.edu 37 3 196288243 196288243 + Missense_Mutation SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 3 196288243 196288243 G T SNP WDR53 ENST00000332629 human ensembl 74_37 -1 known missense c.104 p.A35D 0.030 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR53 HGNC ENSG00000185798 35 0 0 26 6 18.75 KIAA0226 0 genome.wustl.edu 37 3 197421303 197421303 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 3 197421303 197421303 G A SNP KIAA0226 ENST00000296343 human ensembl 74_37 -1 known missense c.1627 p.R543C 1.000 NULL pfam_Run,smart_Run,pfscan_Run - no_errors KIAA0226 HGNC ENSG00000145016 72 0 0 73 30 29.1262 AZI2 0 genome.wustl.edu 37 3 28382055 28382055 + Silent SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 3 28382055 28382055 A G SNP AZI2 ENST00000479665 human ensembl 74_37 -1 known silent c.54 p.H18 0.021 NULL NULL - no_errors AZI2 HGNC ENSG00000163512 96 0 0 32 3 8.57143 VILL 0 genome.wustl.edu 37 3 38039623 38039623 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 3 38039623 38039623 G A SNP VILL ENST00000283713 human ensembl 74_37 +1 known silent c.807 p.A269 0.231 smart_Villin/Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors VILL HGNC ENSG00000136059 21 0 0 20 5 20 DLEC1 0 genome.wustl.edu 37 3 38159361 38159361 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 3 38159361 38159361 A G SNP DLEC1 ENST00000346219 human ensembl 74_37 +1 known missense c.4550 p.Y1517C 0.157 NULL superfamily_PapD-like - no_errors DLEC1 HGNC ENSG00000008226 154 0 0 125 37 22.8395 DLEC1 0 genome.wustl.edu 37 3 38163206 38163206 + Nonsense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 3 38163206 38163206 C T SNP DLEC1 ENST00000346219 human ensembl 74_37 +1 known nonsense c.4954 p.Q1652* 0.062 NULL superfamily_PapD-like - no_errors DLEC1 HGNC ENSG00000008226 64 0 0 69 14 16.8675 XIRP1 0 genome.wustl.edu 37 3 39227496 39227496 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 3 39227496 39227496 G A SNP XIRP1 ENST00000340369 human ensembl 74_37 -1 known silent c.3441 p.P1147 0.001 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP1 HGNC ENSG00000168334 84 0 0 58 23 28.3951 KLHL18 0 genome.wustl.edu 37 3 47378111 47378111 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 3 47378111 47378111 G A SNP KLHL18 ENST00000232766 human ensembl 74_37 +1 known missense c.985 p.V329I 1.000 pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL18 HGNC ENSG00000114648 50 0 0 47 15 24.1935 PLXNB1 0 genome.wustl.edu 37 3 48465206 48465206 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 3 48465206 48465206 C T SNP PLXNB1 ENST00000296440 human ensembl 74_37 -1 known missense c.815 p.R272H 0.032 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB1 HGNC ENSG00000164050 67 0 0 56 17 23.2877 CELSR3 0 genome.wustl.edu 37 3 48698477 48698477 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 3 48698477 48698477 C T SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known missense c.1591 p.V531I 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 26 0 0 46 9 16.3636 ARIH2 0 genome.wustl.edu 37 3 48965171 48965171 + Missense_Mutation SNP G G C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 3 48965171 48965171 G C SNP ARIH2 ENST00000356401 human ensembl 74_37 +1 known missense c.180 p.Q60H 1.000 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors ARIH2 HGNC ENSG00000177479 66 0 0 61 4 6.15385 ARIH2 0 genome.wustl.edu 37 3 49008080 49008080 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 3 49008080 49008080 G A SNP ARIH2 ENST00000356401 human ensembl 74_37 +1 known missense c.713 p.R238Q 1.000 pfam_Znf_C6HC,smart_Znf_C6HC pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors ARIH2 HGNC ENSG00000177479 89 0 0 73 15 17.0455 BSN 0 genome.wustl.edu 37 3 49690307 49690307 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 3 49690307 49690307 G A SNP BSN ENST00000296452 human ensembl 74_37 +1 known silent c.3318 p.T1106 0.021 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 108 0 0 87 30 25.641 RAD54L2 0 genome.wustl.edu 37 3 51690036 51690036 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 3 51690036 51690036 G A SNP RAD54L2 ENST00000409535 human ensembl 74_37 +1 known missense c.3076 p.V1026M 0.978 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54L2 HGNC ENSG00000164080 203 0 0 134 35 20.7101 RAD54L2 0 genome.wustl.edu 37 3 51696526 51696526 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 3 51696526 51696526 C T SNP RAD54L2 ENST00000409535 human ensembl 74_37 +1 known missense c.3494 p.A1165V 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54L2 HGNC ENSG00000164080 79 0 0 69 19 21.5909 WDR82 0 genome.wustl.edu 37 3 52292564 52292564 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 3 52292564 52292564 C T SNP WDR82 ENST00000296490 human ensembl 74_37 -1 known silent c.900 p.A300 0.841 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR82 HGNC ENSG00000164091 198 0 0 88 30 25.4237 EDEM1 0 genome.wustl.edu 37 3 5243555 5243555 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 3 5243555 5243555 G A SNP EDEM1 ENST00000256497 human ensembl 74_37 +1 known silent c.804 p.A268 0.094 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors EDEM1 HGNC ENSG00000134109 74 0 0 39 12 23.5294 PRICKLE2 0 genome.wustl.edu 37 3 64133273 64133273 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 3 64133273 64133273 A G SNP PRICKLE2 ENST00000295902 human ensembl 74_37 -1 known missense c.893 p.L298P 1.000 pfam_Znf_LIM,smart_Znf_LIM pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE2 HGNC ENSG00000163637 119 0 0 90 25 21.7391 MAGI1 0 genome.wustl.edu 37 3 65361620 65361620 + Missense_Mutation SNP C C A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 3 65361620 65361620 C A SNP MAGI1 ENST00000402939 human ensembl 74_37 -1 known missense c.2996 p.G999V 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI1 HGNC ENSG00000151276 28 0 0 12 5 29.4118 CGGBP1 0 genome.wustl.edu 37 3 88105087 88105087 + Missense_Mutation SNP G G C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 3 88105087 88105087 G C SNP CGGBP1 ENST00000309534 human ensembl 74_37 -1 known missense c.40 p.R14G 1.000 NULL NULL - no_errors CGGBP1 HGNC ENSG00000163320 112 0 0 66 27 29.0323 DNAJB14 0 genome.wustl.edu 37 4 100824920 100824920 + Silent SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 4 100824920 100824920 A G SNP DNAJB14 ENST00000442697 human ensembl 74_37 -1 known silent c.978 p.T326 0.998 pfam_DUF1977_DnaJ-like pfam_DUF1977_DnaJ-like,pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB14 HGNC ENSG00000164031 60 0 0 18 5 21.7391 FGFRL1 0 genome.wustl.edu 37 4 1016197 1016197 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 4 1016197 1016197 G A SNP FGFRL1 ENST00000264748 human ensembl 74_37 +1 known missense c.286 p.V96M 0.019 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FGFRL1 HGNC ENSG00000127418 29 0 0 27 3 10 NFKB1 0 genome.wustl.edu 37 4 103527761 103527761 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 4 103527761 103527761 C T SNP NFKB1 ENST00000226574 human ensembl 74_37 +1 known missense c.1861 p.H621Y 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_RHD,pfam_Ankyrin_rpt,pfam_Death_domain,superfamily_p53-like_TF_DNA-bd,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ig_E-set,superfamily_DEATH-like_dom,smart_IPT,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_RHD,prints_NF_Rel_Dor,prints_Ankyrin_rpt - no_errors NFKB1 HGNC ENSG00000109320 105 0 0 68 24 26.087 SYNPO2 0 genome.wustl.edu 37 4 119952584 119952584 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 4 119952584 119952584 A G SNP SYNPO2 ENST00000307142 human ensembl 74_37 +1 known missense c.2654 p.K885R 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SYNPO2 HGNC ENSG00000172403 107 0 0 52 20 27.7778 KIAA1109 0 genome.wustl.edu 37 4 123170765 123170765 + Nonsense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 4 123170765 123170765 C T SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known nonsense c.5638 p.R1880* 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 53 0 0 16 10 38.4615 INTU 0 genome.wustl.edu 37 4 128628042 128628042 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 4 128628042 128628042 C T SNP INTU ENST00000335251 human ensembl 74_37 +1 known missense c.2189 p.P730L 0.720 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors INTU HGNC ENSG00000164066 152 0 0 83 36 30.2521 PCDH10 0 genome.wustl.edu 37 4 134084227 134084227 + Nonsense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 4 134084227 134084227 C T SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known nonsense c.2893 p.Q965* 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 59 0 0 40 16 28.5714 POU4F2 0 genome.wustl.edu 37 4 147561355 147561355 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 4 147561355 147561355 G A SNP POU4F2 ENST00000281321 human ensembl 74_37 +1 known missense c.625 p.D209N 1.000 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU4F2 HGNC ENSG00000151615 8 0 0 15 5 25 PRMT10 0 genome.wustl.edu 37 4 148594871 148594871 + Missense_Mutation SNP T T A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 4 148594871 148594871 T A SNP PRMT10 ENST00000322396 human ensembl 74_37 -1 known missense c.493 p.I165F 0.000 NULL pfam_Ribosomal-L11_MeTrfase_PrmA,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PRMT10 HGNC ENSG00000164169 67 0 0 30 9 23.0769 LRBA 0 genome.wustl.edu 37 4 151520209 151520209 + Missense_Mutation SNP G G C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 4 151520209 151520209 G C SNP LRBA ENST00000357115 human ensembl 74_37 -1 known missense c.5996 p.P1999R 1.000 pfam_DUF1088 pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom - no_errors LRBA HGNC ENSG00000198589 79 0 0 41 21 33.871 DCHS2 0 genome.wustl.edu 37 4 155241940 155241940 + Silent SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 4 155241940 155241940 A G SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known silent c.3246 p.D1082 0.017 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 120 0 0 63 10 13.6986 MAP9 0 genome.wustl.edu 37 4 156269012 156269012 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 4 156269012 156269012 G A SNP MAP9 ENST00000311277 human ensembl 74_37 -1 known missense c.1867 p.R623C 0.089 NULL NULL - no_errors MAP9 HGNC ENSG00000164114 21 0 0 8 2 20 TKTL2 0 genome.wustl.edu 37 4 164394816 164394816 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 4 164394816 164394816 C T SNP TKTL2 ENST00000280605 human ensembl 74_37 -1 known missense c.71 p.R24Q 1.000 pfam_Transketolase_N pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors TKTL2 HGNC ENSG00000151005 39 0 0 38 13 25.4902 SCRG1 0 genome.wustl.edu 37 4 174312470 174312470 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 4 174312470 174312470 T C SNP SCRG1 ENST00000296506 human ensembl 74_37 -1 known missense c.96 p.I32M 0.864 NULL NULL - no_errors SCRG1 HGNC ENSG00000164106 165 0 0 91 51 35.9155 FRG1 0 genome.wustl.edu 37 4 190874269 190874269 + Missense_Mutation SNP A A T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 4 190874269 190874269 A T SNP FRG1 ENST00000226798 human ensembl 74_37 +1 known missense c.306 p.L102F 0.985 pfam_FRG1,pfam_Fascin-domain,superfamily_Actin_cross-linking pfam_FRG1,pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FRG1 HGNC ENSG00000109536 23 0 0 14 2 12.5 SCFD2 0 genome.wustl.edu 37 4 54140037 54140037 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 4 54140037 54140037 C T SNP SCFD2 ENST00000401642 human ensembl 74_37 -1 known missense c.1267 p.A423T 0.787 superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors SCFD2 HGNC ENSG00000184178 70 0 0 26 16 38.0952 SRD5A3 0 genome.wustl.edu 37 4 56225592 56225592 + Nonsense_Mutation SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 4 56225592 56225592 G T SNP SRD5A3 ENST00000264228 human ensembl 74_37 +1 known nonsense c.301 p.G101* 0.997 NULL pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C - no_errors SRD5A3 HGNC ENSG00000128039 152 0 0 51 38 42.6966 AASDH 0 genome.wustl.edu 37 4 57221488 57221488 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 4 57221488 57221488 C T SNP AASDH ENST00000205214 human ensembl 74_37 -1 known silent c.963 p.A321 0.737 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_Acyl_carrier_prot-like,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Acyl_carrier_prot-like,smart_PQQ_beta_propeller_repeat,pfscan_Acyl_carrier_prot-like - no_errors AASDH HGNC ENSG00000157426 105 1 0.943396 53 25 32.0513 UGT2B15 0 genome.wustl.edu 37 4 69536157 69536157 + Silent SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 4 69536157 69536157 A G SNP UGT2B15 ENST00000338206 human ensembl 74_37 -1 known silent c.180 p.A60 0.002 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B15 HGNC ENSG00000196620 267 0 0 167 10 5.64972 PAQR3 0 genome.wustl.edu 37 4 79841787 79841787 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 4 79841787 79841787 G A SNP PAQR3 ENST00000511594 human ensembl 74_37 -1 known missense c.842 p.A281V 1.000 pfam_HlyIII-related pfam_HlyIII-related - no_errors PAQR3 HGNC ENSG00000163291 85 0 0 26 13 33.3333 GK2 0 genome.wustl.edu 37 4 80329257 80329257 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 4 80329257 80329257 G A SNP GK2 ENST00000358842 human ensembl 74_37 -1 known missense c.98 p.A33V 0.998 pfam_Carb_kinase_FGGY_N,tigrfam_Glycerol_kin pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin - no_errors GK2 HGNC ENSG00000196475 73 0 0 30 15 33.3333 C4orf22 0 genome.wustl.edu 37 4 81866027 81866027 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 4 81866027 81866027 C T SNP C4orf22 ENST00000508675 human ensembl 74_37 +1 known silent c.591 p.A197 0.995 NULL NULL - no_errors C4orf22 HGNC ENSG00000197826 44 0 0 17 3 15 PRKG2 0 genome.wustl.edu 37 4 82026979 82026979 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 4 82026979 82026979 C T SNP PRKG2 ENST00000264399 human ensembl 74_37 -1 known missense c.2051 p.R684Q 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_cGMP-dependent_protein_kinase,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin - no_errors PRKG2 HGNC ENSG00000138669 90 0 0 29 8 21.6216 SEC31A 0 genome.wustl.edu 37 4 83785628 83785628 + Nonsense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 4 83785628 83785628 G A SNP SEC31A ENST00000432794 human ensembl 74_37 -1 known nonsense c.1321 p.R441* 0.962 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31A HGNC ENSG00000138674 82 0 0 39 20 33.8983 WDFY3 0 genome.wustl.edu 37 4 85708803 85708803 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 4 85708803 85708803 C T SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known missense c.3733 p.V1245I 1.000 superfamily_ConA-like_lec_gl_sf pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 58 0 0 46 14 23.3333 PTPN13 0 genome.wustl.edu 37 4 87671685 87671685 + Nonsense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 4 87671685 87671685 C T SNP PTPN13 ENST00000436978 human ensembl 74_37 +1 known nonsense c.2713 p.R905* 1.000 pirsf_Tyr_Pase_non-rcpt_typ-13 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 184 0 0 83 32 27.8261 HERC6 0 genome.wustl.edu 37 4 89311998 89311998 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 4 89311998 89311998 G A SNP HERC6 ENST00000264346 human ensembl 74_37 +1 known missense c.631 p.G211R 0.999 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC6 HGNC ENSG00000138642 48 0 0 30 12 28.5714 TMEM175 0 genome.wustl.edu 37 4 941596 941596 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 4 941596 941596 C T SNP TMEM175 ENST00000264771 human ensembl 74_37 +1 known silent c.69 p.D23 0.000 NULL pfam_DUF1211_TMEM175 - no_errors TMEM175 HGNC ENSG00000127419 50 0 0 29 15 34.0909 DRD5 0 genome.wustl.edu 37 4 9784294 9784294 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 4 9784294 9784294 C T SNP DRD5 ENST00000304374 human ensembl 74_37 +1 known missense c.641 p.A214V 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Dopamine_D5_rcpt,prints_Dopamine_rcpt - no_errors DRD5 HGNC ENSG00000169676 111 0 0 90 8 8.16327 EIF4E 0 genome.wustl.edu 37 4 99812387 99812387 + Splice_Site SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 4 99812387 99812387 C T SNP EIF4E ENST00000280892 human ensembl 74_37 -1 known splice_site c.281+1 e3+1 1.000 - - - no_errors EIF4E HGNC ENSG00000151247 39 0 0 15 8 34.7826 EFNA5 0 genome.wustl.edu 37 5 106717055 106717055 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 5 106717055 106717055 G A SNP EFNA5 ENST00000333274 human ensembl 74_37 -1 known silent c.588 p.A196 1.000 NULL pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNA5 HGNC ENSG00000184349 62 0 0 33 4 10.8108 PJA2 0 genome.wustl.edu 37 5 108719145 108719145 + RNA SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 5 108719145 108719145 G A SNP PJA2 ENST00000511624 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors PJA2 HGNC ENSG00000198961 122 0 0 55 6 9.83607 SLC6A18 0 genome.wustl.edu 37 5 1243678 1243678 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 5 1243678 1243678 G A SNP SLC6A18 ENST00000324642 human ensembl 74_37 +1 known silent c.1140 p.S380 0.002 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A18 HGNC ENSG00000164363 64 0 0 63 23 26.7442 FSTL4 0 genome.wustl.edu 37 5 132552921 132552921 + Missense_Mutation SNP C C A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 5 132552921 132552921 C A SNP FSTL4 ENST00000265342 human ensembl 74_37 -1 known missense c.1608 p.Q536H 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Kazal_dom,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL4 HGNC ENSG00000053108 81 0 0 42 13 23.6364 FAM53C 0 genome.wustl.edu 37 5 137677044 137677044 + Missense_Mutation SNP A A T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 5 137677044 137677044 A T SNP FAM53C ENST00000239906 human ensembl 74_37 +1 known missense c.20 p.E7V 1.000 NULL NULL - no_errors FAM53C HGNC ENSG00000120709 181 0 0 134 9 6.29371 LRRTM2 0 genome.wustl.edu 37 5 138209269 138209269 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 5 138209269 138209269 G A SNP LRRTM2 ENST00000274711 human ensembl 74_37 -1 known silent c.981 p.G327 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM2 HGNC ENSG00000146006 69 0 0 38 11 22.449 DNAH5 0 genome.wustl.edu 37 5 13871844 13871844 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 5 13871844 13871844 G A SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.3427 p.R1143C 0.356 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 29 0 0 12 3 20 PCDHA4 0 genome.wustl.edu 37 5 140186857 140186857 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 5 140186857 140186857 G A SNP PCDHA4 ENST00000530339 human ensembl 74_37 +1 known missense c.85 p.G29S 0.954 pfam_Cadherin_N,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA4 HGNC ENSG00000204967 92 0 0 74 31 29.5238 PCDHA4 0 genome.wustl.edu 37 5 140188890 140188890 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 5 140188890 140188890 G A SNP PCDHA4 ENST00000530339 human ensembl 74_37 +1 known silent c.2118 p.A706 0.497 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA4 HGNC ENSG00000204967 62 0 0 85 5 5.55556 PCDHA6 0 genome.wustl.edu 37 5 140209767 140209767 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 5 140209767 140209767 C T SNP PCDHA6 ENST00000529310 human ensembl 74_37 +1 known silent c.2091 p.N697 0.634 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA6 HGNC ENSG00000081842 94 0 0 82 21 20.3883 PCDHA8 0 genome.wustl.edu 37 5 140221046 140221046 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 5 140221046 140221046 G A SNP PCDHA8 ENST00000531613 human ensembl 74_37 +1 known missense c.140 p.R47Q 0.977 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA8 HGNC ENSG00000204962 63 0 0 69 37 34.9057 PCDHA11 0 genome.wustl.edu 37 5 140250122 140250122 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 5 140250122 140250122 G A SNP PCDHA11 ENST00000398640 human ensembl 74_37 +1 known silent c.1434 p.A478 0.034 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 PCDHA11 HGNC ENSG00000249158 137 0 0 127 39 23.494 PCDHA12 0 genome.wustl.edu 37 5 140256792 140256792 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 5 140256792 140256792 G A SNP PCDHA12 ENST00000398631 human ensembl 74_37 +1 known missense c.1735 p.E579K 0.973 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA12 HGNC ENSG00000251664 143 0 0 126 49 28 PCDHB2 0 genome.wustl.edu 37 5 140475679 140475679 + Silent SNP C C A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 5 140475679 140475679 C A SNP PCDHB2 ENST00000194155 human ensembl 74_37 +1 known silent c.1305 p.T435 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB2 HGNC ENSG00000112852 207 0 0 212 22 9.40171 PCDHB7 0 genome.wustl.edu 37 5 140553577 140553577 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 5 140553577 140553577 C T SNP PCDHB7 ENST00000231137 human ensembl 74_37 +1 known silent c.1161 p.D387 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 38 0 0 19 11 36.6667 PCDHB13 0 genome.wustl.edu 37 5 140595324 140595324 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 5 140595324 140595324 C T SNP PCDHB13 ENST00000341948 human ensembl 74_37 +1 known silent c.1629 p.S543 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB13 HGNC ENSG00000187372 54 0 0 52 6 10.3448 PCDHGA8 0 genome.wustl.edu 37 5 140774370 140774370 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 5 140774370 140774370 G A SNP PCDHGA8 ENST00000398604 human ensembl 74_37 +1 known missense c.1990 p.V664M 0.886 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA8 HGNC ENSG00000253767 60 0 0 44 20 31.25 FCHSD1 0 genome.wustl.edu 37 5 141019880 141019880 + RNA SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 5 141019880 141019880 G T SNP FCHSD1 ENST00000523856 human ensembl 74_37 -1 known rna NULL NULL 0.007 - - - no_errors FCHSD1 HGNC ENSG00000197948 50 0 0 40 6 13.0435 PCDH12 0 genome.wustl.edu 37 5 141325097 141325097 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 5 141325097 141325097 G A SNP PCDH12 ENST00000231484 human ensembl 74_37 -1 known missense c.3404 p.A1135V 0.325 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH12 HGNC ENSG00000113555 19 0 0 13 5 27.7778 TRIO 0 genome.wustl.edu 37 5 14389425 14389425 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 5 14389425 14389425 G A SNP TRIO ENST00000344204 human ensembl 74_37 +1 known missense c.3976 p.V1326M 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 43 0 0 11 8 42.1053 PDGFRB 0 genome.wustl.edu 37 5 149515165 149515165 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 5 149515165 149515165 C T SNP PDGFRB ENST00000261799 human ensembl 74_37 -1 known missense c.317 p.R106H 0.085 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors PDGFRB HGNC ENSG00000113721 119 0 0 81 33 28.9474 GRIA1 0 genome.wustl.edu 37 5 153030051 153030051 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 5 153030051 153030051 C T SNP GRIA1 ENST00000448073 human ensembl 74_37 +1 known missense c.652 p.R218C 0.989 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA1 HGNC ENSG00000155511 50 0 0 35 9 20.4545 GEMIN5 0 genome.wustl.edu 37 5 154272096 154272096 + Missense_Mutation SNP A A T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 5 154272096 154272096 A T SNP GEMIN5 ENST00000285873 human ensembl 74_37 -1 known missense c.3611 p.I1204N 0.218 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors GEMIN5 HGNC ENSG00000082516 43 0 0 30 4 11.7647 PWWP2A 0 genome.wustl.edu 37 5 159520771 159520771 + Nonsense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 5 159520771 159520771 G A SNP PWWP2A ENST00000307063 human ensembl 74_37 -1 known nonsense c.886 p.R296* 1.000 NULL pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom - no_errors PWWP2A HGNC ENSG00000170234 102 0 0 56 15 21.1268 MAT2B 0 genome.wustl.edu 37 5 162945289 162945289 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 5 162945289 162945289 A G SNP MAT2B ENST00000321757 human ensembl 74_37 +1 known missense c.925 p.T309A 0.994 pfam_dTDP_dehydrorham_reduct pfam_dTDP_dehydrorham_reduct,pfam_Epimerase_deHydtase,pfam_Polysac_CapD-like,pfam_3Beta_OHSteriod_DH/Estase - no_errors MAT2B HGNC ENSG00000038274 63 0 0 17 7 29.1667 MYO10 0 genome.wustl.edu 37 5 16701363 16701363 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 5 16701363 16701363 C T SNP MYO10 ENST00000513610 human ensembl 74_37 -1 known silent c.3141 p.A1047 0.011 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_P-loop_NTPase,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 19 0 0 15 5 25 TENM2 0 genome.wustl.edu 37 5 167674742 167674742 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 5 167674742 167674742 C T SNP TENM2 ENST00000518659 human ensembl 74_37 +1 known silent c.6798 p.D2266 0.149 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 58 0 0 51 11 17.7419 DOCK2 0 genome.wustl.edu 37 5 169108866 169108866 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 5 169108866 169108866 C T SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.589 p.R197C 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 109 1 0.909091 36 4 10 FGF18 0 genome.wustl.edu 37 5 170883545 170883545 + Silent SNP C C A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 5 170883545 170883545 C A SNP FGF18 ENST00000274625 human ensembl 74_37 +1 known silent c.360 p.P120 0.171 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF18 HGNC ENSG00000156427 55 0 0 50 5 9.09091 RGS14 0 genome.wustl.edu 37 5 176793219 176793219 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 5 176793219 176793219 C T SNP RGS14 ENST00000408923 human ensembl 74_37 +1 known missense c.109 p.R37C 0.969 NULL pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS14 HGNC ENSG00000169220 25 0 0 21 6 22.2222 SQSTM1 0 genome.wustl.edu 37 5 179263532 179263532 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 5 179263532 179263532 A G SNP SQSTM1 ENST00000389805 human ensembl 74_37 +1 known missense c.1262 p.N421S 0.999 superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk pfam_Znf_ZZ,pfam_OPR_PB1,superfamily_UBA-like,smart_OPR_PB1,smart_Znf_ZZ,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_ZZ - no_errors SQSTM1 HGNC ENSG00000161011 148 0 0 87 30 25.641 GFPT2 0 genome.wustl.edu 37 5 179734305 179734305 + Splice_Site SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 5 179734305 179734305 T C SNP GFPT2 ENST00000253778 human ensembl 74_37 -1 known splice_site c.1547-2 e16-2 0.998 - - - no_errors GFPT2 HGNC ENSG00000131459 51 0 0 36 16 30.7692 CDH10 0 genome.wustl.edu 37 5 24593378 24593378 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 5 24593378 24593378 G A SNP CDH10 ENST00000264463 human ensembl 74_37 -1 known silent c.222 p.Y74 0.986 pfam_Cadherin,superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH10 HGNC ENSG00000040731 93 0 0 38 4 9.52381 UGT3A2 0 genome.wustl.edu 37 5 36037950 36037950 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 5 36037950 36037950 A G SNP UGT3A2 ENST00000282507 human ensembl 74_37 -1 known missense c.1244 p.L415P 0.685 pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT3A2 HGNC ENSG00000168671 124 1 0.8 96 7 6.79612 EGFLAM 0 genome.wustl.edu 37 5 38352305 38352305 + Nonsense_Mutation SNP C C A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 5 38352305 38352305 C A SNP EGFLAM ENST00000354891 human ensembl 74_37 +1 known nonsense c.417 p.C139* 1.000 NULL pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G - no_errors EGFLAM HGNC ENSG00000164318 118 0 0 84 26 23.6364 HCN1 0 genome.wustl.edu 37 5 45262136 45262136 + Nonsense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 5 45262136 45262136 G A SNP HCN1 ENST00000303230 human ensembl 74_37 -1 known nonsense c.2560 p.R854* 0.999 NULL pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN1 HGNC ENSG00000164588 101 0 0 77 34 30.6306 SETD9 0 genome.wustl.edu 37 5 56208890 56208890 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 5 56208890 56208890 G A SNP SETD9 ENST00000285947 human ensembl 74_37 +1 known silent c.519 p.P173 0.865 NULL NULL - no_errors SETD9 HGNC ENSG00000155542 112 0 0 52 4 7.14286 MAP1B 0 genome.wustl.edu 37 5 71490625 71490625 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 5 71490625 71490625 G A SNP MAP1B ENST00000296755 human ensembl 74_37 +1 known silent c.1443 p.A481 0.103 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 116 0 0 57 11 16.1765 GFM2 0 genome.wustl.edu 37 5 74054702 74054702 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 5 74054702 74054702 G A SNP GFM2 ENST00000296805 human ensembl 74_37 -1 known silent c.276 p.Y92 0.996 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,tigrfam_Small_GTP-bd_dom pfam_EF_GTP-bd_dom,pfam_EFG_V,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_EFG_III-V,superfamily_Ribosomal_S5_D2-typ_fold,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors GFM2 HGNC ENSG00000164347 114 0 0 35 5 12.5 S100Z 0 genome.wustl.edu 37 5 76171212 76171212 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 5 76171212 76171212 G A SNP S100Z ENST00000317593 human ensembl 74_37 +1 known missense c.28 p.D10N 1.000 pfam_S100_Ca-bd_sub pfam_S100_Ca-bd_sub,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors S100Z HGNC ENSG00000171643 34 0 0 27 4 12.9032 CMYA5 0 genome.wustl.edu 37 5 79054697 79054697 + Missense_Mutation SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 5 79054697 79054697 G T SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known missense c.11232 p.E3744D 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 109 0 0 37 11 22.9167 RASGRF2 0 genome.wustl.edu 37 5 80513294 80513294 + Splice_Site SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 5 80513294 80513294 T C SNP RASGRF2 ENST00000265080 human ensembl 74_37 +1 known splice_site c.3552+2 e25+2 1.000 - - - no_errors RASGRF2 HGNC ENSG00000113319 89 0 0 25 16 39.0244 SEMA5A 0 genome.wustl.edu 37 5 9190505 9190505 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 5 9190505 9190505 G A SNP SEMA5A ENST00000382496 human ensembl 74_37 -1 known missense c.1147 p.H383Y 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5A HGNC ENSG00000112902 61 0 0 35 15 30 CAST 0 genome.wustl.edu 37 5 96077209 96077209 + Missense_Mutation SNP A A C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 5 96077209 96077209 A C SNP CAST ENST00000395813 human ensembl 74_37 +1 known missense c.1023 p.E341D 0.665 pfam_Prot_inh_calpain pfam_Prot_inh_calpain - no_errors CAST HGNC ENSG00000153113 20 0 0 9 2 18.1818 SOBP 0 genome.wustl.edu 37 6 107827633 107827633 + Splice_Site SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 6 107827633 107827633 T C SNP SOBP ENST00000317357 human ensembl 74_37 +1 known splice_site c.421+2 e3+2 1.000 - - - no_errors SOBP HGNC ENSG00000112320 179 0 0 72 31 30.0971 SCML4 0 genome.wustl.edu 37 6 108067962 108067962 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 6 108067962 108067962 C T SNP SCML4 ENST00000369021 human ensembl 74_37 -1 known missense c.331 p.D111N 1.000 pfam_DUF3588 pfam_DUF3588 - no_errors SCML4 HGNC ENSG00000146285 129 0 0 94 32 25.3968 SMPD2 0 genome.wustl.edu 37 6 109764279 109764279 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 6 109764279 109764279 T C SNP SMPD2 ENST00000258052 human ensembl 74_37 +1 known missense c.724 p.Y242H 0.992 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors SMPD2 HGNC ENSG00000135587 43 0 0 18 5 21.7391 CEP85L 0 genome.wustl.edu 37 6 118953649 118953649 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 6 118953649 118953649 C T SNP CEP85L ENST00000368488 human ensembl 74_37 -1 known missense c.208 p.G70S 1.000 NULL NULL - no_errors CEP85L HGNC ENSG00000111860 101 0 0 40 14 25.9259 EYA4 0 genome.wustl.edu 37 6 133783519 133783519 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 6 133783519 133783519 G A SNP EYA4 ENST00000355167 human ensembl 74_37 +1 known missense c.484 p.A162T 1.000 NULL pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA4 HGNC ENSG00000112319 175 0 0 108 10 8.47458 SLC2A12 0 genome.wustl.edu 37 6 134312334 134312334 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 6 134312334 134312334 A G SNP SLC2A12 ENST00000275230 human ensembl 74_37 -1 known missense c.1813 p.C605R 0.877 NULL pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt - no_errors SLC2A12 HGNC ENSG00000146411 163 0 0 105 27 20.4545 CD83 0 genome.wustl.edu 37 6 14131847 14131847 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 6 14131847 14131847 G A SNP CD83 ENST00000379153 human ensembl 74_37 +1 known missense c.250 p.A84T 0.003 pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD83 HGNC ENSG00000112149 96 0 0 60 9 13.0435 LRP11 0 genome.wustl.edu 37 6 150141737 150141737 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 6 150141737 150141737 C T SNP LRP11 ENST00000239367 human ensembl 74_37 -1 known missense c.1451 p.R484H 0.994 NULL pfam_MANSC_N,pfam_LDrepeatLR_classA_rpt,superfamily_PKD_dom,superfamily_LDrepeatLR_classA_rpt,smart_MANSC_N,smart_PKD/Chitinase_dom,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_MANSC,pfscan_PKD_dom - no_errors LRP11 HGNC ENSG00000120256 51 0 0 16 9 36 ARID1B 0 genome.wustl.edu 37 6 157488279 157488279 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 6 157488279 157488279 G A SNP ARID1B ENST00000367148 human ensembl 74_37 +1 known silent c.2946 p.P982 0.064 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1B HGNC ENSG00000049618 90 0 0 101 6 5.60748 ACAT2 0 genome.wustl.edu 37 6 160198409 160198409 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 6 160198409 160198409 C T SNP ACAT2 ENST00000541436 human ensembl 74_37 +1 known missense c.920 p.A307V 0.003 pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase pfam_Thiolase_N,pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase - no_errors ACAT2 HGNC ENSG00000120437 65 0 0 31 7 18.4211 THBS2 0 genome.wustl.edu 37 6 169648825 169648825 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 6 169648825 169648825 G A SNP THBS2 ENST00000366787 human ensembl 74_37 -1 known missense c.296 p.T99M 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS2 HGNC ENSG00000186340 84 0 0 69 15 17.8571 ERMARD 0 genome.wustl.edu 37 6 170159118 170159118 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 6 170159118 170159118 G A SNP ERMARD ENST00000366773 human ensembl 74_37 +1 known missense c.562 p.V188I 0.007 NULL NULL - no_errors ERMARD HGNC ENSG00000130023 138 0 0 78 19 19.5876 NHLRC1 0 genome.wustl.edu 37 6 18122356 18122356 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 6 18122356 18122356 G A SNP NHLRC1 ENST00000340650 human ensembl 74_37 -1 known missense c.482 p.A161V 0.000 pfscan_NHL_repeat_subgr smart_Znf_RING,pfscan_NHL_repeat_subgr,pfscan_Znf_RING - no_errors NHLRC1 HGNC ENSG00000187566 82 0 0 49 19 27.9412 HFE 0 genome.wustl.edu 37 6 26092869 26092869 + Missense_Mutation SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 6 26092869 26092869 G T SNP HFE ENST00000470149 human ensembl 74_37 +1 known missense c.649 p.V217L 0.000 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HFE HGNC ENSG00000010704 101 0 0 47 7 12.963 HIST1H2BF 0 genome.wustl.edu 37 6 26200079 26200079 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 6 26200079 26200079 C T SNP HIST1H2BF ENST00000359985 human ensembl 74_37 +1 known missense c.293 p.A98V 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BF HGNC ENSG00000197846 95 0 0 116 28 19.4444 HIST1H2AE 0 genome.wustl.edu 37 6 26217297 26217297 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 6 26217297 26217297 A G SNP HIST1H2AE ENST00000303910 human ensembl 74_37 +1 known missense c.95 p.H32R 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AE HGNC ENSG00000168274 49 0 0 36 11 23.4043 MYLK4 0 genome.wustl.edu 37 6 2675355 2675355 + Nonsense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 6 2675355 2675355 G A SNP MYLK4 ENST00000268446 human ensembl 74_37 -1 known nonsense c.1045 p.R349* 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MYLK4 HGNC ENSG00000145949 39 0 0 22 3 12 OR2J1 0 genome.wustl.edu 37 6 29069391 29069391 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 6 29069391 29069391 G A SNP OR2J1 ENST00000377171 human ensembl 74_37 +1 known silent c.672 p.R224 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 OR2J1 HGNC ENSG00000204702 87 0 0 45 10 18.1818 DDR1 0 genome.wustl.edu 37 6 30856514 30856514 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 6 30856514 30856514 C T SNP DDR1 ENST00000376575 human ensembl 74_37 +1 known missense c.8 p.P3L 0.644 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR1 HGNC ENSG00000204580 35 0 0 24 6 20 VARS2 0 genome.wustl.edu 37 6 30887544 30887544 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 6 30887544 30887544 G A SNP VARS2 ENST00000541562 human ensembl 74_37 +1 known missense c.1174 p.G392R 1.000 pfam_aa-tRNA-synth_Ia,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase - no_errors VARS2 HGNC ENSG00000137411 418 0 0 258 82 24.1176 VWA7 0 genome.wustl.edu 37 6 31733790 31733790 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 6 31733790 31733790 A G SNP VWA7 ENST00000375686 human ensembl 74_37 -1 known missense c.2369 p.L790P 1.000 NULL NULL - no_errors VWA7 HGNC ENSG00000204396 136 0 0 111 38 25.5034 C6orf48 0 genome.wustl.edu 37 6 31807422 31807422 + Silent SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 6 31807422 31807422 A G SNP C6orf48 ENST00000375633 human ensembl 74_37 +1 known silent c.210 p.G70 0.000 NULL NULL - no_errors C6orf48 HGNC ENSG00000204387 96 0 0 31 12 27.907 TNXB 0 genome.wustl.edu 37 6 32063535 32063535 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 6 32063535 32063535 G A SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.2095 p.R699W 0.672 smart_EG-like_dom pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 32 0 0 23 6 20.6897 NOTCH4 0 genome.wustl.edu 37 6 32187491 32187491 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 6 32187491 32187491 C T SNP NOTCH4 ENST00000375023 human ensembl 74_37 -1 known missense c.1388 p.C463Y 1.000 pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 46 0 0 15 7 31.8182 ITPR3 0 genome.wustl.edu 37 6 33623607 33623607 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 6 33623607 33623607 G A SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known silent c.225 p.K75 1.000 pfam_Ins145_P3_rcpt pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ENSG00000096433 66 0 0 51 17 25 NUDT3 0 genome.wustl.edu 37 6 34309655 34309655 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 6 34309655 34309655 C T SNP NUDT3 ENST00000607016 human ensembl 74_37 -1 known missense c.194 p.R65H 1.000 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT3 HGNC ENSG00000272325 83 0 0 54 6 10 SLC26A8 0 genome.wustl.edu 37 6 35919042 35919042 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 6 35919042 35919042 G A SNP SLC26A8 ENST00000355574 human ensembl 74_37 -1 known silent c.2370 p.D790 0.081 pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A8 HGNC ENSG00000112053 46 0 0 38 5 11.6279 PI16 0 genome.wustl.edu 37 6 36929281 36929281 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 6 36929281 36929281 C T SNP PI16 ENST00000373674 human ensembl 74_37 +1 known missense c.448 p.L150F 0.998 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors PI16 HGNC ENSG00000164530 138 1 0.719424 80 30 27.2727 RNF8 0 genome.wustl.edu 37 6 37336726 37336726 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 6 37336726 37336726 C T SNP RNF8 ENST00000373479 human ensembl 74_37 +1 known missense c.707 p.A236V 0.167 pirsf_E3_Ub_ligase_RNF8 pfam_FHA_dom,pfam_Znf_C3HC4_RING-type,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Znf_RING,pirsf_E3_Ub_ligase_RNF8,pfscan_FHA_dom,pfscan_Znf_RING - no_errors RNF8 HGNC ENSG00000112130 71 0 0 38 3 7.31707 DNAH8 0 genome.wustl.edu 37 6 38875809 38875809 + Silent SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 6 38875809 38875809 T C SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known silent c.8775 p.P2925 0.008 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 42 0 0 23 8 25.8065 FAM217A 0 genome.wustl.edu 37 6 4073578 4073578 + Splice_Site SNP T T G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 6 4073578 4073578 T G SNP FAM217A ENST00000274673 human ensembl 74_37 -1 known splice_site c.235-2 e5-2 0.978 - - - no_errors FAM217A HGNC ENSG00000145975 59 0 0 21 4 16 ECI2 0 genome.wustl.edu 37 6 4125528 4125528 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 6 4125528 4125528 C T SNP ECI2 ENST00000380118 human ensembl 74_37 -1 known missense c.751 p.V251I 0.999 pfam_Crotonase_core_superfam pfam_Acyl-CoA-binding_protein,pfam_Crotonase_core_superfam,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein - no_errors ECI2 HGNC ENSG00000198721 108 0 0 45 5 10 CNPY3 0 genome.wustl.edu 37 6 42905564 42905564 + Missense_Mutation SNP A A C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 6 42905564 42905564 A C SNP CNPY3 ENST00000372836 human ensembl 74_37 +1 known missense c.482 p.D161A 1.000 pfam_DUF3456 pfam_DUF3456 - no_errors CNPY3 HGNC ENSG00000137161 122 1 0.813008 92 24 20.6897 MEP1A 0 genome.wustl.edu 37 6 46801266 46801266 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 6 46801266 46801266 A G SNP MEP1A ENST00000230588 human ensembl 74_37 +1 known missense c.1600 p.T534A 0.000 pirsf_Pept_M12A_Meprin,pfam_MATH,superfamily_TRAF-like,smart_MATH,pfscan_MATH pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EG-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom - no_errors MEP1A HGNC ENSG00000112818 95 0 0 63 6 8.69565 KIAA1586 0 genome.wustl.edu 37 6 56917622 56917622 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 6 56917622 56917622 G A SNP KIAA1586 ENST00000370733 human ensembl 74_37 +1 known missense c.325 p.E109K 0.000 NULL superfamily_RNaseH-like_dom - no_errors KIAA1586 HGNC ENSG00000168116 44 0 0 11 7 38.8889 EXOC2 0 genome.wustl.edu 37 6 576834 576834 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 6 576834 576834 C T SNP EXOC2 ENST00000230449 human ensembl 74_37 -1 known missense c.1241 p.R414H 0.998 NULL pfam_IPT,superfamily_Ig_E-set,superfamily_Cullin_repeat-like_dom - no_errors EXOC2 HGNC ENSG00000112685 87 0 0 51 21 29.1667 EYS 0 genome.wustl.edu 37 6 66204803 66204803 + Silent SNP C C G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 6 66204803 66204803 C G SNP EYS ENST00000370616 human ensembl 74_37 -1 known silent c.501 p.V167 0.940 NULL pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 73 0 0 28 6 17.6471 CUX1 0 genome.wustl.edu 37 7 101844792 101844792 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 7 101844792 101844792 A G SNP CUX1 ENST00000360264 human ensembl 74_37 +1 known missense c.2248 p.T750A 0.527 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX1 HGNC ENSG00000257923 177 0 0 226 31 12.0623 PUS7 0 genome.wustl.edu 37 7 105108874 105108874 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 7 105108874 105108874 A G SNP PUS7 ENST00000356362 human ensembl 74_37 -1 known missense c.1435 p.Y479H 1.000 pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,pfscan_PsdUridine_synth_TruD_insert,tigrfam_PsdUridine_synth_TruD pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,pfscan_PsdUridine_synth_TruD_insert,tigrfam_PsdUridine_synth_TruD - no_errors PUS7 HGNC ENSG00000091127 86 0 0 32 6 15.7895 PIK3CG 0 genome.wustl.edu 37 7 106508461 106508461 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 7 106508461 106508461 G A SNP PIK3CG ENST00000359195 human ensembl 74_37 +1 known missense c.455 p.R152Q 0.872 NULL pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CG HGNC ENSG00000105851 19 0 0 17 6 26.087 PPP1R3A 0 genome.wustl.edu 37 7 113519997 113519997 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 7 113519997 113519997 C T SNP PPP1R3A ENST00000284601 human ensembl 74_37 -1 known missense c.1150 p.V384I 0.010 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 175 1 0.568182 55 21 27.6316 FAM3C 0 genome.wustl.edu 37 7 121003000 121003000 + Silent SNP T T A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 7 121003000 121003000 T A SNP FAM3C ENST00000359943 human ensembl 74_37 -1 known silent c.333 p.G111 0.928 NULL NULL - no_errors FAM3C HGNC ENSG00000196937 57 0 0 14 4 22.2222 CALU 0 genome.wustl.edu 37 7 128394340 128394340 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 7 128394340 128394340 C T SNP CALU ENST00000479257 human ensembl 74_37 +1 known silent c.270 p.G90 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CALU HGNC ENSG00000128595 58 0 0 32 7 17.9487 NRF1 0 genome.wustl.edu 37 7 129367082 129367082 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 7 129367082 129367082 G A SNP NRF1 ENST00000393231 human ensembl 74_37 +1 known missense c.1225 p.E409K 1.000 NULL pfam_Nrf1_NLS/DNA-bd_dimer,pfam_Nrf1_activation-bd - no_errors NRF1 HGNC ENSG00000106459 52 0 0 28 14 33.3333 PLXNA4 0 genome.wustl.edu 37 7 131825445 131825445 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 7 131825445 131825445 G A SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known missense c.5351 p.T1784M 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA4 HGNC ENSG00000221866 93 0 0 60 43 41.7476 CALD1 0 genome.wustl.edu 37 7 134632353 134632353 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 7 134632353 134632353 C T SNP CALD1 ENST00000361388 human ensembl 74_37 +1 known missense c.940 p.R314C 0.994 pfam_Caldesmon_LSP pfam_Caldesmon_LSP,prints_Caldesmon - no_errors CALD1 HGNC ENSG00000122786 8 0 0 5 3 37.5 CHRM2 0 genome.wustl.edu 37 7 136700133 136700133 + Missense_Mutation SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 7 136700133 136700133 G T SNP CHRM2 ENST00000320658 human ensembl 74_37 +1 known missense c.521 p.G174V 0.993 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM2 HGNC ENSG00000181072 155 0 0 73 35 32.4074 SLC37A3 0 genome.wustl.edu 37 7 140035244 140035244 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 7 140035244 140035244 G A SNP SLC37A3 ENST00000340308 human ensembl 74_37 -1 known missense c.1151 p.A384V 0.265 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC37A3 HGNC ENSG00000157800 122 0 0 54 23 29.8701 WEE2 0 genome.wustl.edu 37 7 141416054 141416054 + Missense_Mutation SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 7 141416054 141416054 G T SNP WEE2 ENST00000397541 human ensembl 74_37 +1 known missense c.572 p.G191V 0.003 pirsf_Wee1-like_protein_kinase pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Wee1-like_protein_kinase,pfscan_Prot_kinase_dom - no_errors WEE2 HGNC ENSG00000214102 107 0 0 75 24 24.2424 PRSS58 0 genome.wustl.edu 37 7 141954898 141954898 + Missense_Mutation SNP C C A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 7 141954898 141954898 C A SNP PRSS58 ENST00000547058 human ensembl 74_37 -1 known missense c.413 p.W138L 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS58 HGNC ENSG00000258223 189 0 0 77 26 25.2427 MICALL2 0 genome.wustl.edu 37 7 1476465 1476465 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 7 1476465 1476465 C T SNP MICALL2 ENST00000297508 human ensembl 74_37 -1 known missense c.2504 p.R835Q 0.000 pfam_DUF3585 pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICALL2 HGNC ENSG00000164877 23 0 0 24 8 25 PDIA4 0 genome.wustl.edu 37 7 148701189 148701189 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 7 148701189 148701189 G A SNP PDIA4 ENST00000286091 human ensembl 74_37 -1 known silent c.1635 p.D545 0.995 pirsf_Protein_diS-isomerase_A4,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase pirsf_Protein_diS-isomerase_A4,pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,prints_Calsequestrin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase - no_errors PDIA4 HGNC ENSG00000155660 123 0 0 127 18 12.4138 AOC1 0 genome.wustl.edu 37 7 150553856 150553856 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 7 150553856 150553856 G A SNP AOC1 ENST00000416793 human ensembl 74_37 +1 known missense c.298 p.V100I 0.001 pfam_Cu_amine_oxidase_N2,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC1 HGNC ENSG00000002726 98 0 0 83 15 15.3061 ABCB8 0 genome.wustl.edu 37 7 150739135 150739135 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 7 150739135 150739135 C T SNP ABCB8 ENST00000297504 human ensembl 74_37 +1 known missense c.1756 p.R586W 0.112 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB8 HGNC ENSG00000197150 55 0 0 70 4 5.40541 MNX1 0 genome.wustl.edu 37 7 156798301 156798301 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 7 156798301 156798301 G A SNP MNX1 ENST00000252971 human ensembl 74_37 -1 known silent c.1119 p.G373 0.415 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors MNX1 HGNC ENSG00000130675 14 0 0 14 6 30 HDAC9 0 genome.wustl.edu 37 7 18833017 18833017 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 7 18833017 18833017 G A SNP HDAC9 ENST00000441542 human ensembl 74_37 +1 known missense c.2264 p.R755H 1.000 pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC9 HGNC ENSG00000048052 20 0 0 3 4 57.1429 ITGB8 0 genome.wustl.edu 37 7 20418829 20418829 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 7 20418829 20418829 C T SNP ITGB8 ENST00000222573 human ensembl 74_37 +1 known missense c.544 p.R182C 0.162 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_EGF_extracell,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB8 HGNC ENSG00000105855 30 0 0 14 3 17.6471 TTYH3 0 genome.wustl.edu 37 7 2697962 2697962 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 7 2697962 2697962 G A SNP TTYH3 ENST00000258796 human ensembl 74_37 +1 known silent c.1293 p.P431 0.003 NULL pfam_Tweety - no_errors TTYH3 HGNC ENSG00000136295 11 0 0 9 4 30.7692 BMPER 0 genome.wustl.edu 37 7 34118621 34118621 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 7 34118621 34118621 C T SNP BMPER ENST00000297161 human ensembl 74_37 +1 known missense c.1231 p.R411W 0.928 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_VWF_C,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_C,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,pfscan_VWF_C - no_errors BMPER HGNC ENSG00000164619 142 0 0 124 35 22.0126 AEBP1 0 genome.wustl.edu 37 7 44153382 44153382 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 7 44153382 44153382 G A SNP AEBP1 ENST00000223357 human ensembl 74_37 +1 known missense c.2999 p.R1000Q 1.000 superfamily_CarboxyPept-like_regulatory pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors AEBP1 HGNC ENSG00000106624 120 0 0 108 49 31.2102 GCK 0 genome.wustl.edu 37 7 44189378 44189378 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 7 44189378 44189378 G A SNP GCK ENST00000345378 human ensembl 74_37 -1 known silent c.663 p.C221 1.000 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors GCK HGNC ENSG00000106633 99 0 0 75 10 11.7647 SUN3 0 genome.wustl.edu 37 7 48046807 48046807 + Missense_Mutation SNP G G C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 7 48046807 48046807 G C SNP SUN3 ENST00000297325 human ensembl 74_37 -1 known missense c.447 p.N149K 0.157 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUN3 HGNC ENSG00000164744 53 0 0 31 12 27.907 ZPBP 0 genome.wustl.edu 37 7 50022936 50022936 + Splice_Site SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 7 50022936 50022936 A G SNP ZPBP ENST00000046087 human ensembl 74_37 -1 known splice_site c.961+2 e7+2 1.000 - - - no_errors ZPBP HGNC ENSG00000042813 60 0 0 16 9 36 POM121L12 0 genome.wustl.edu 37 7 53103425 53103425 + Missense_Mutation SNP C C A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 7 53103425 53103425 C A SNP POM121L12 ENST00000408890 human ensembl 74_37 +1 known missense c.61 p.P21T 0.001 NULL NULL - no_errors POM121L12 HGNC ENSG00000221900 10 0 0 12 10 45.4545 TNRC18 0 genome.wustl.edu 37 7 5352185 5352185 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 7 5352185 5352185 G A SNP TNRC18 ENST00000399537 human ensembl 74_37 -1 known silent c.8337 p.A2779 0.950 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 61 0 0 69 14 16.8675 EIF2AK1 0 genome.wustl.edu 37 7 6080770 6080770 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 7 6080770 6080770 C T SNP EIF2AK1 ENST00000199389 human ensembl 74_37 -1 known missense c.872 p.R291H 0.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EIF2AK1 HGNC ENSG00000086232 92 0 0 58 4 6.45161 KDELR2 0 genome.wustl.edu 37 7 6505908 6505908 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 7 6505908 6505908 G A SNP KDELR2 ENST00000258739 human ensembl 74_37 -1 known missense c.398 p.P133L 1.000 pfam_ER_ret_rcpt,prints_ER_ret_rcpt pfam_ER_ret_rcpt,prints_ER_ret_rcpt - no_errors KDELR2 HGNC ENSG00000136240 78 0 0 68 22 24.4444 TRIM74 0 genome.wustl.edu 37 7 72430648 72430648 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 7 72430648 72430648 C T SNP TRIM74 ENST00000285805 human ensembl 74_37 -1 known missense c.630 p.M210I 0.993 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM74 HGNC ENSG00000155428 28 0 0 13 14 51.8519 GTF2IRD2P1 0 genome.wustl.edu 37 7 72658718 72658718 + RNA SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 7 72658718 72658718 G A SNP GTF2IRD2P1 ENST00000425256 human ensembl 74_37 -1 known rna NULL NULL 0.079 - - - no_errors GTF2IRD2P1 HGNC ENSG00000214544 43 0 0 15 8 34.7826 BAZ1B 0 genome.wustl.edu 37 7 72925183 72925183 + Splice_Site SNP C C A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 7 72925183 72925183 C A SNP BAZ1B ENST00000339594 human ensembl 74_37 -1 known splice_site c.108-1 e2-1 1.000 - - - no_errors BAZ1B HGNC ENSG00000009954 80 0 0 43 18 29.5082 CLIP2 0 genome.wustl.edu 37 7 73790244 73790244 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 7 73790244 73790244 G A SNP CLIP2 ENST00000223398 human ensembl 74_37 +1 known missense c.1513 p.V505M 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain - no_errors CLIP2 HGNC ENSG00000106665 9 0 0 8 4 33.3333 PCLO 0 genome.wustl.edu 37 7 82785657 82785657 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 7 82785657 82785657 C T SNP PCLO ENST00000333891 human ensembl 74_37 -1 known silent c.300 p.P100 0.411 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 33 0 0 15 5 25 ABCB1 0 genome.wustl.edu 37 7 87144568 87144568 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 7 87144568 87144568 G A SNP ABCB1 ENST00000265724 human ensembl 74_37 -1 known silent c.3261 p.Y1087 0.098 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB1 HGNC ENSG00000085563 46 0 0 33 18 35.2941 PON1 0 genome.wustl.edu 37 7 94953783 94953783 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 7 94953783 94953783 G A SNP PON1 ENST00000222381 human ensembl 74_37 -1 known missense c.5 p.A2V 0.711 NULL pfam_Arylesterase,pfam_SGL,pfam_Strictosidine_synth_cons-reg,prints_Arylesterase,prints_Paraoxonase1 - no_errors PON1 HGNC ENSG00000005421 30 0 0 27 10 27.027 TRRAP 0 genome.wustl.edu 37 7 98490105 98490105 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 7 98490105 98490105 G A SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.320 p.R107H 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 107 0 0 47 15 24.1935 TAF6 0 genome.wustl.edu 37 7 99717361 99717361 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 7 99717361 99717361 C T SNP TAF6 ENST00000437822 human ensembl 74_37 -1 putative silent c.9 p.K3 0.005 NULL pfam_DUF1546,pfam_TAF_TATA-bd,superfamily_Histone-fold,superfamily_ARM-type_fold,smart_TAF_TATA-bd - no_errors TAF6 HGNC ENSG00000106290 66 0 0 34 19 35.8491 ABRA 0 genome.wustl.edu 37 8 107781751 107781751 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 8 107781751 107781751 T C SNP ABRA ENST00000311955 human ensembl 74_37 -1 known missense c.668 p.Q223R 1.000 NULL NULL - no_errors ABRA HGNC ENSG00000174429 310 0 0 265 22 7.66551 CSMD3 0 genome.wustl.edu 37 8 113529286 113529286 + Missense_Mutation SNP T T G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 8 113529286 113529286 T G SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.4733 p.Q1578P 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 105 0 0 44 18 29.0323 TBC1D31 0 genome.wustl.edu 37 8 124121761 124121761 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 8 124121761 124121761 C T SNP TBC1D31 ENST00000287380 human ensembl 74_37 +1 known missense c.1337 p.A446V 1.000 pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom - no_errors TBC1D31 HGNC ENSG00000156787 156 1 0.636943 51 24 32 AGO2 0 genome.wustl.edu 37 8 141551418 141551418 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 8 141551418 141551418 C T SNP AGO2 ENST00000220592 human ensembl 74_37 -1 known missense c.1879 p.A627T 1.000 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO2 HGNC ENSG00000123908 19 0 0 27 7 20.5882 SLC45A4 0 genome.wustl.edu 37 8 142225981 142225981 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 8 142225981 142225981 G A SNP SLC45A4 ENST00000517878 human ensembl 74_37 -1 known silent c.1818 p.A606 0.652 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A4 HGNC ENSG00000022567 44 0 0 39 10 20.4082 ZFP41 0 genome.wustl.edu 37 8 144332292 144332292 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 8 144332292 144332292 G A SNP ZFP41 ENST00000330701 human ensembl 74_37 +1 known silent c.279 p.G93 0.001 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP41 HGNC ENSG00000181638 87 0 0 48 25 34.2466 TOP1MT 0 genome.wustl.edu 37 8 144391652 144391652 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 8 144391652 144391652 C T SNP TOP1MT ENST00000329245 human ensembl 74_37 -1 known missense c.1765 p.A589T 0.998 superfamily_DNA_brk_join_enz pfam_TopoI_DNA-bd_euk,pfam_TopoI_cat_euk,superfamily_TopoI_DNA-bd_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk,prints_TopoI - no_errors TOP1MT HGNC ENSG00000184428 71 0 0 60 12 16.6667 PYCRL 0 genome.wustl.edu 37 8 144688646 144688646 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 8 144688646 144688646 G A SNP PYCRL ENST00000220966 human ensembl 74_37 -1 known silent c.576 p.G192 0.160 superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase - no_errors PYCRL HGNC ENSG00000104524 56 0 0 68 10 12.8205 PLEC 0 genome.wustl.edu 37 8 145008551 145008551 + Missense_Mutation SNP C C A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 8 145008551 145008551 C A SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.1515 p.K505N 1.000 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 47 0 0 60 8 11.7647 CPSF1 0 genome.wustl.edu 37 8 145625454 145625454 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 8 145625454 145625454 A G SNP CPSF1 ENST00000349769 human ensembl 74_37 -1 known missense c.959 p.I320T 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 48 0 0 54 6 10 PPP3CC 0 genome.wustl.edu 37 8 22355520 22355520 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 8 22355520 22355520 C T SNP PPP3CC ENST00000240139 human ensembl 74_37 +1 known silent c.379 p.L127 1.000 pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP3CC HGNC ENSG00000120910 60 0 0 19 8 29.6296 SORBS3 0 genome.wustl.edu 37 8 22428492 22428492 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 8 22428492 22428492 C T SNP SORBS3 ENST00000240123 human ensembl 74_37 +1 known missense c.1501 p.R501C 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,prints_p67phox,prints_SH3_domain,pfscan_Sorb,pfscan_SH3_domain - no_errors SORBS3 HGNC ENSG00000120896 88 0 0 77 36 31.8584 ENTPD4 0 genome.wustl.edu 37 8 23291937 23291937 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 8 23291937 23291937 C T SNP ENTPD4 ENST00000358689 human ensembl 74_37 -1 known silent c.1515 p.S505 0.000 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD4 HGNC ENSG00000197217 53 0 0 42 9 17.6471 CHRNA6 0 genome.wustl.edu 37 8 42611903 42611903 + Missense_Mutation SNP T T A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 8 42611903 42611903 T A SNP CHRNA6 ENST00000276410 human ensembl 74_37 -1 known missense c.439 p.T147S 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_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_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA6 HGNC ENSG00000147434 127 0 0 45 23 33.8235 RGS20 0 genome.wustl.edu 37 8 54859256 54859256 + Missense_Mutation SNP C C G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 8 54859256 54859256 C G SNP RGS20 ENST00000297313 human ensembl 74_37 +1 known missense c.691 p.P231A 0.838 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS20 HGNC ENSG00000147509 54 0 0 22 5 18.5185 TMEM68 0 genome.wustl.edu 37 8 56663707 56663707 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 8 56663707 56663707 A G SNP TMEM68 ENST00000434581 human ensembl 74_37 -1 known missense c.503 p.L168S 1.000 pfam_Plipid/glycerol_acylTrfase pfam_Plipid/glycerol_acylTrfase - no_errors TMEM68 HGNC ENSG00000167904 98 0 0 49 7 12.5 PENK 0 genome.wustl.edu 37 8 57358422 57358422 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 8 57358422 57358422 C T SNP PENK ENST00000314922 human ensembl 74_37 -1 known missense c.91 p.A31T 0.920 pfam_Opioid_neupept,prints_Opioid_neupept pfam_Opioid_neupept,prints_Proenkphlin_A,prints_Opioid_neupept - no_errors PENK HGNC ENSG00000181195 84 0 0 67 29 30.2083 EYA1 0 genome.wustl.edu 37 8 72111656 72111656 + Splice_Site SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 8 72111656 72111656 C T SNP EYA1 ENST00000340726 human ensembl 74_37 -1 known splice_site c.1699-1 e16-1 1.000 - - - no_errors EYA1 HGNC ENSG00000104313 29 0 0 17 7 29.1667 E2F5 0 genome.wustl.edu 37 8 86121436 86121436 + Silent SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 8 86121436 86121436 T C SNP E2F5 ENST00000256117 human ensembl 74_37 +1 known silent c.678 p.H226 0.991 NULL pfam_E2F_TDP - no_errors E2F5 HGNC ENSG00000133740 75 0 0 23 8 25.8065 TMEM64 0 genome.wustl.edu 37 8 91657390 91657390 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 8 91657390 91657390 C T SNP TMEM64 ENST00000458549 human ensembl 74_37 -1 known silent c.744 p.A248 1.000 pfam_SNARE_assoc pfam_SNARE_assoc - no_errors TMEM64 HGNC ENSG00000180694 87 0 0 83 7 7.77778 TNKS 0 genome.wustl.edu 37 8 9609128 9609128 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 8 9609128 9609128 A G SNP TNKS ENST00000310430 human ensembl 74_37 +1 known missense c.2842 p.I948V 1.000 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS HGNC ENSG00000173273 152 0 0 97 24 19.8347 TNKS 0 genome.wustl.edu 37 8 9609186 9609186 + Missense_Mutation SNP C C A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 8 9609186 9609186 C A SNP TNKS ENST00000310430 human ensembl 74_37 +1 known missense c.2900 p.P967H 1.000 NULL pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS HGNC ENSG00000173273 224 0 0 187 22 10.5263 CCDC180 0 genome.wustl.edu 37 9 100124717 100124717 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 100124717 100124717 C T SNP CCDC180 ENST00000375202 human ensembl 74_37 +1 known missense c.4028 p.A1343V 0.000 NULL NULL - no_errors CCDC180 HGNC ENSG00000197816 100 0 0 83 23 21.6981 NCBP1 0 genome.wustl.edu 37 9 100416081 100416081 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 100416081 100416081 T C SNP NCBP1 ENST00000375147 human ensembl 74_37 +1 known missense c.1061 p.V354A 1.000 pfam_MIF4G-like_typ-1,superfamily_ARM-type_fold pfam_MIF4G-like_typ-2,pfam_MIF4G-like_typ-1,pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors NCBP1 HGNC ENSG00000136937 82 0 0 22 19 46.3415 FOXE1 0 genome.wustl.edu 37 9 100617252 100617252 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 100617252 100617252 C T SNP FOXE1 ENST00000375123 human ensembl 74_37 +1 known silent c.1056 p.G352 0.203 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXE1 HGNC ENSG00000178919 27 0 0 25 5 16.6667 INVS 0 genome.wustl.edu 37 9 103035301 103035301 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 103035301 103035301 G A SNP INVS ENST00000262457 human ensembl 74_37 +1 known missense c.1727 p.R576Q 1.000 pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt - no_errors INVS HGNC ENSG00000119509 135 0 0 93 22 19.1304 DMRT2 0 genome.wustl.edu 37 9 1056568 1056568 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 1056568 1056568 C T SNP DMRT2 ENST00000302441 human ensembl 74_37 +1 known silent c.981 p.S327 0.998 NULL pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRT2 HGNC ENSG00000173253 70 0 0 24 21 46.6667 ZNF462 0 genome.wustl.edu 37 9 109690581 109690581 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 109690581 109690581 C T SNP ZNF462 ENST00000457913 human ensembl 74_37 +1 known missense c.4388 p.P1463L 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 40 0 0 17 20 54.0541 ZNF462 0 genome.wustl.edu 37 9 109773168 109773168 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 109773168 109773168 A G SNP ZNF462 ENST00000457913 human ensembl 74_37 +1 known missense c.7558 p.S2520G 0.479 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 34 0 0 15 5 25 KIAA1958 0 genome.wustl.edu 37 9 115422066 115422066 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 115422066 115422066 G A SNP KIAA1958 ENST00000536272 human ensembl 74_37 +1 known missense c.1952 p.R651Q 1.000 pfam_DUF3504 pfam_DUF3504,superfamily_Integrase_Lambda-type_N - no_errors KIAA1958 HGNC ENSG00000165185 41 0 0 40 13 24.5283 COL27A1 0 genome.wustl.edu 37 9 117063971 117063971 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 117063971 117063971 G A SNP COL27A1 ENST00000356083 human ensembl 74_37 +1 known missense c.4819 p.G1607S 0.501 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL27A1 HGNC ENSG00000196739 33 0 0 44 9 16.9811 COL27A1 0 genome.wustl.edu 37 9 117066886 117066886 + Splice_Site SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 117066886 117066886 A G SNP COL27A1 ENST00000356083 human ensembl 74_37 +1 known splice_site c.4873-2 e57-2 1.000 - - - no_errors COL27A1 HGNC ENSG00000196739 84 0 0 90 6 6.25 TNC 0 genome.wustl.edu 37 9 117848730 117848730 + Missense_Mutation SNP T T G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 117848730 117848730 T G SNP TNC ENST00000350763 human ensembl 74_37 -1 known missense c.1280 p.E427A 1.000 pfam_EGF_extracell,smart_EG-like_dom pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC ENSG00000041982 106 0 0 110 30 21.4286 ASTN2 0 genome.wustl.edu 37 9 119382591 119382591 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 119382591 119382591 C T SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known silent c.3204 p.P1068 0.989 superfamily_Fibronectin_type3 pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 64 0 0 58 9 13.4328 OR1J4 0 genome.wustl.edu 37 9 125282057 125282057 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 125282057 125282057 G A SNP OR1J4 ENST00000340750 human ensembl 74_37 +1 known missense c.638 p.C213Y 0.059 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1J4 HGNC ENSG00000239590 90 0 0 51 26 33.7662 LRSAM1 0 genome.wustl.edu 37 9 130251749 130251749 + Missense_Mutation SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 130251749 130251749 G T SNP LRSAM1 ENST00000300417 human ensembl 74_37 +1 known missense c.1374 p.E458D 1.000 NULL pfam_Leu-rich_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_PTS_PEP_utilis_N,smart_Leu-rich_rpt_typical-subtyp,smart_SAM,pfscan_SAM,pfscan_Znf_RING - no_errors LRSAM1 HGNC ENSG00000148356 13 0 0 17 3 15 SH2D3C 0 genome.wustl.edu 37 9 130536608 130536608 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 130536608 130536608 G A SNP SH2D3C ENST00000314830 human ensembl 74_37 -1 known missense c.176 p.T59M 0.997 NULL pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25 - no_errors SH2D3C HGNC ENSG00000095370 58 0 0 65 28 30.1075 FAM102A 0 genome.wustl.edu 37 9 130707096 130707096 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 130707096 130707096 G A SNP FAM102A ENST00000373095 human ensembl 74_37 -1 known silent c.999 p.I333 1.000 NULL pfam_NT-C2 - no_errors FAM102A HGNC ENSG00000167106 28 0 0 24 22 47.8261 CIZ1 0 genome.wustl.edu 37 9 130932369 130932369 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 130932369 130932369 C T SNP CIZ1 ENST00000538431 human ensembl 74_37 -1 known missense c.1961 p.R654H 1.000 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2_matrin - no_errors CIZ1 HGNC ENSG00000148337 66 0 0 66 24 26.6667 GLE1 0 genome.wustl.edu 37 9 131287597 131287597 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 131287597 131287597 G A SNP GLE1 ENST00000309971 human ensembl 74_37 +1 known missense c.1024 p.E342K 1.000 NULL pfam_GLE1 - no_errors GLE1 HGNC ENSG00000119392 22 0 0 33 4 10.8108 SPTAN1 0 genome.wustl.edu 37 9 131353800 131353800 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 131353800 131353800 G A SNP SPTAN1 ENST00000358161 human ensembl 74_37 +1 known silent c.3051 p.P1017 0.024 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 142 0 0 118 34 22.3684 CEL 0 genome.wustl.edu 37 9 135942250 135942250 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 135942250 135942250 T C SNP CEL ENST00000372080 human ensembl 74_37 +1 known missense c.704 p.L235P 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CEL HGNC ENSG00000170835 32 0 0 13 8 38.0952 RALGDS 0 genome.wustl.edu 37 9 135975778 135975778 + RNA SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 135975778 135975778 C T SNP RALGDS ENST00000469972 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RALGDS HGNC ENSG00000160271 89 0 0 64 50 43.8596 RALGDS 0 genome.wustl.edu 37 9 135978616 135978616 + Splice_Site SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 135978616 135978616 C T SNP RALGDS ENST00000542690 human ensembl 74_37 -1 known splice_site c.2004+1 e16+1 1.000 - - - no_errors RALGDS HGNC ENSG00000160271 52 0 0 41 10 19.6078 OBP2B 0 genome.wustl.edu 37 9 136082718 136082718 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 136082718 136082718 C T SNP OBP2B ENST00000372034 human ensembl 74_37 -1 known missense c.283 p.G95S 0.000 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_von_Ebner_gland pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_von_Ebner_gland,prints_PstgldnD_synth - no_errors OBP2B HGNC ENSG00000171102 34 0 0 26 5 16.129 CAMSAP1 0 genome.wustl.edu 37 9 138713203 138713203 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 138713203 138713203 C T SNP CAMSAP1 ENST00000409386 human ensembl 74_37 -1 known missense c.3337 p.G1113R 0.482 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP1 HGNC ENSG00000130559 28 0 0 38 9 19.1489 NOTCH1 0 genome.wustl.edu 37 9 139409965 139409965 + Missense_Mutation SNP A A C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 139409965 139409965 A C SNP NOTCH1 ENST00000277541 human ensembl 74_37 -1 known missense c.1873 p.Y625D 1.000 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 25 0 0 23 18 43.9024 CLIC3 0 genome.wustl.edu 37 9 139889995 139889995 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 139889995 139889995 G A SNP CLIC3 ENST00000494426 human ensembl 74_37 -1 known silent c.168 p.F56 0.998 superfamily_Thioredoxin-like_fold superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel - no_errors CLIC3 HGNC ENSG00000169583 56 0 0 47 39 45.3488 FAM166A 0 genome.wustl.edu 37 9 140140301 140140301 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 140140301 140140301 C T SNP FAM166A ENST00000344774 human ensembl 74_37 -1 known missense c.61 p.A21T 0.997 pfam_UPF0573/UPF0605 pfam_UPF0573/UPF0605 - no_errors FAM166A HGNC ENSG00000188163 16 0 0 20 3 13.0435 LOC100133077 0 genome.wustl.edu 37 9 140777379 140777379 + RNA SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 140777379 140777379 C T SNP LOC100133077 ENST00000371390 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-188C12.3 Clone_based_vega_gene ENSG00000203987 123 0 0 146 27 15.6069 FREM1 0 genome.wustl.edu 37 9 14859191 14859191 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 14859191 14859191 G A SNP FREM1 ENST00000380881 human ensembl 74_37 -1 known silent c.621 p.F207 1.000 NULL pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 27 0 0 18 8 30.7692 CBWD1 0 genome.wustl.edu 37 9 164038 164038 + Splice_Site SNP C C G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 164038 164038 C G SNP CBWD1 ENST00000356521 human ensembl 74_37 -1 known splice_site c.431-1 e5-1 1.000 - - - no_errors CBWD1 HGNC ENSG00000172785 112 0 0 54 3 5.26316 SMARCA2 0 genome.wustl.edu 37 9 2039779 2039779 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 2039779 2039779 G A SNP SMARCA2 ENST00000349721 human ensembl 74_37 +1 known silent c.669 p.Q223 0.625 NULL pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 19 0 0 24 5 17.2414 KCNV2 0 genome.wustl.edu 37 9 2718442 2718442 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 2718442 2718442 G A SNP KCNV2 ENST00000382082 human ensembl 74_37 +1 known missense c.703 p.D235N 0.675 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNV2 HGNC ENSG00000168263 10 0 0 9 3 25 KCNV2 0 genome.wustl.edu 37 9 2718573 2718573 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 2718573 2718573 G A SNP KCNV2 ENST00000382082 human ensembl 74_37 +1 known silent c.834 p.A278 0.460 prints_K_chnl,prints_K_chnl_volt-dep_Kv9 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNV2 HGNC ENSG00000168263 11 0 0 32 3 8.57143 UNC13B 0 genome.wustl.edu 37 9 35380501 35380501 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 35380501 35380501 C T SNP UNC13B ENST00000378496 human ensembl 74_37 +1 known missense c.1993 p.R665C 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_C2_dom pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13B HGNC ENSG00000198722 63 0 0 34 4 10.5263 RUSC2 0 genome.wustl.edu 37 9 35558199 35558199 + Missense_Mutation SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 35558199 35558199 G T SNP RUSC2 ENST00000361226 human ensembl 74_37 +1 known missense c.3066 p.K1022N 1.000 NULL pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC2 HGNC ENSG00000198853 57 0 0 54 5 8.47458 RANBP6 0 genome.wustl.edu 37 9 6015587 6015587 + Silent SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 6015587 6015587 T C SNP RANBP6 ENST00000259569 human ensembl 74_37 -1 known silent c.21 p.A7 0.530 NULL pfam_HEAT,superfamily_ARM-type_fold - no_errors RANBP6 HGNC ENSG00000137040 68 0 0 35 40 53.3333 TRPM3 0 genome.wustl.edu 37 9 73151247 73151247 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 73151247 73151247 G A SNP TRPM3 ENST00000423814 human ensembl 74_37 -1 known silent c.4827 p.C1609 0.998 NULL pfam_Ion_trans_dom - no_errors TRPM3 HGNC ENSG00000083067 100 0 0 70 9 11.3924 PCSK5 0 genome.wustl.edu 37 9 78953261 78953261 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 78953261 78953261 C T SNP PCSK5 ENST00000545128 human ensembl 74_37 +1 known missense c.4783 p.R1595C 0.795 superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 32 0 0 15 5 25 SPATA31D1 0 genome.wustl.edu 37 9 84606266 84606266 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 84606266 84606266 G A SNP SPATA31D1 ENST00000344803 human ensembl 74_37 +1 known missense c.881 p.R294H 0.000 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 435 0 0 243 71 22.6115 PTPRD 0 genome.wustl.edu 37 9 8485953 8485953 + Missense_Mutation SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 8485953 8485953 G T SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.2864 p.T955N 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 150 0 0 80 15 15.7895 KIF27 0 genome.wustl.edu 37 9 86504110 86504110 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 86504110 86504110 C T SNP KIF27 ENST00000297814 human ensembl 74_37 -1 known missense c.1868 p.R623Q 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF27 HGNC ENSG00000165115 220 0 0 103 33 24.2647 AGTPBP1 0 genome.wustl.edu 37 9 88204537 88204537 + Silent SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 88204537 88204537 A G SNP AGTPBP1 ENST00000376109 human ensembl 74_37 -1 known silent c.2664 p.D888 0.992 pfam_Peptidase_M14 pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGTPBP1 HGNC ENSG00000135049 79 0 0 29 8 21.6216 ZCCHC6 0 genome.wustl.edu 37 9 88967763 88967763 + Missense_Mutation SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 88967763 88967763 G T SNP ZCCHC6 ENST00000375963 human ensembl 74_37 -1 known missense c.352 p.P118T 0.972 NULL pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC6 HGNC ENSG00000083223 140 0 0 58 21 26.5823 ROR2 0 genome.wustl.edu 37 9 94493360 94493360 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 94493360 94493360 G A SNP ROR2 ENST00000375708 human ensembl 74_37 -1 known missense c.1015 p.P339S 1.000 pirsf_Tyr_kinase_rcpt_ROR,pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors ROR2 HGNC ENSG00000169071 55 0 0 52 25 32.4675 PHF2 0 genome.wustl.edu 37 9 96429499 96429499 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 96429499 96429499 C T SNP PHF2 ENST00000359246 human ensembl 74_37 +1 known silent c.2325 p.G775 0.584 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF2 HGNC ENSG00000197724 21 0 0 13 2 13.3333 XKRX 0 genome.wustl.edu 37 X 100183206 100183206 + Nonsense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 100183206 100183206 G A SNP XKRX ENST00000328526 human ensembl 74_37 -1 known nonsense c.127 p.R43* 0.906 NULL pfam_Transport_prot_XK - no_errors XKRX HGNC ENSG00000182489 162 0 0 93 26 21.8487 CLCN4 0 genome.wustl.edu 37 X 10180666 10180666 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 10180666 10180666 G A SNP CLCN4 ENST00000380833 human ensembl 74_37 +1 known missense c.1549 p.A517T 1.000 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-4 - no_errors CLCN4 HGNC ENSG00000073464 45 0 0 38 13 25.4902 ARMCX5 0 genome.wustl.edu 37 X 101858244 101858244 + Missense_Mutation SNP A A T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 101858244 101858244 A T SNP ARMCX5 ENST00000246174 human ensembl 74_37 +1 known missense c.1175 p.Y392F 0.001 pfam_ARM-rpt_dom,superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors ARMCX5 HGNC ENSG00000125962 64 0 0 32 13 28.8889 BEX1 0 genome.wustl.edu 37 X 102317840 102317840 + Silent SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 102317840 102317840 A G SNP BEX1 ENST00000372728 human ensembl 74_37 -1 known silent c.363 p.F121 1.000 pfam_TF_A-like/BEX-like,pirsf_BEX pfam_TF_A-like/BEX-like,pirsf_BEX - no_errors BEX1 HGNC ENSG00000133169 181 0 0 97 22 18.4874 MID1 0 genome.wustl.edu 37 X 10427780 10427780 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 10427780 10427780 G A SNP MID1 ENST00000317552 human ensembl 74_37 -1 known silent c.1353 p.H451 0.309 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors MID1 HGNC ENSG00000101871 258 0 0 187 53 22.0833 ALG13 0 genome.wustl.edu 37 X 110951472 110951472 + Missense_Mutation SNP C C A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 110951472 110951472 C A SNP ALG13 ENST00000251943 human ensembl 74_37 +1 known missense c.289 p.L97M 0.000 NULL pfam_OTU,pfscan_OTU,pfscan_Tudor - no_errors ALG13 HGNC ENSG00000101901 58 0 0 22 10 31.25 LONRF3 0 genome.wustl.edu 37 X 118109314 118109314 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 118109314 118109314 C T SNP LONRF3 ENST00000371628 human ensembl 74_37 +1 known missense c.571 p.R191C 0.908 smart_Znf_RING,pfscan_Znf_RING pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_TPR_repeat,smart_Znf_RING,smart_Pept_S16_N,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors LONRF3 HGNC ENSG00000175556 43 0 0 38 12 24 CT47B1 0 genome.wustl.edu 37 X 120007854 120007854 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 120007854 120007854 C T SNP CT47B1 ENST00000371311 human ensembl 74_37 -1 known missense c.796 p.E266K 0.008 NULL NULL - no_errors CT47B1 HGNC ENSG00000236446 290 0 0 117 70 37.4332 GRIA3 0 genome.wustl.edu 37 X 122599628 122599628 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 122599628 122599628 G A SNP GRIA3 ENST00000264357 human ensembl 74_37 +1 known missense c.2428 p.G810S 1.000 pfam_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA3 HGNC ENSG00000125675 79 0 0 42 13 23.6364 FRMPD4 0 genome.wustl.edu 37 X 12734822 12734822 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 12734822 12734822 G A SNP FRMPD4 ENST00000380682 human ensembl 74_37 +1 known silent c.2244 p.A748 0.078 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_dom - no_errors FRMPD4 HGNC ENSG00000169933 112 0 0 104 36 25.7143 OFD1 0 genome.wustl.edu 37 X 13778670 13778670 + Silent SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 13778670 13778670 T C SNP OFD1 ENST00000340096 human ensembl 74_37 +1 known silent c.2091 p.V697 0.000 NULL superfamily_Lipoprotein_6,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors OFD1 HGNC ENSG00000046651 147 0 0 101 25 19.8413 CSF2RA 0 genome.wustl.edu 37 X 1413208 1413208 + RNA SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 1413208 1413208 G A SNP CSF2RA ENST00000491683 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors CSF2RA HGNC ENSG00000198223 297 1 0.33557 200 78 28.0576 FMR1 0 genome.wustl.edu 37 X 147030286 147030286 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 147030286 147030286 G A SNP FMR1 ENST00000370471 human ensembl 74_37 +1 known missense c.1550 p.R517Q 1.000 NULL pfam_KH_dom_type_1,pfam_Agenet-like_dom,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FMR1 HGNC ENSG00000102081 107 0 0 63 24 27.5862 MAGEA4 0 genome.wustl.edu 37 X 151092867 151092867 + Missense_Mutation SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 151092867 151092867 G T SNP MAGEA4 ENST00000276344 human ensembl 74_37 +1 known missense c.731 p.R244M 0.241 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA4 HGNC ENSG00000147381 128 0 0 122 11 8.27068 MAGEA3 0 genome.wustl.edu 37 X 151935285 151935285 + Silent SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 151935285 151935285 A G SNP MAGEA3 ENST00000370278 human ensembl 74_37 -1 known silent c.882 p.S294 0.000 pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA3 HGNC ENSG00000221867 274 0 0 125 65 34.2105 ASB9 0 genome.wustl.edu 37 X 15287958 15287958 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 15287958 15287958 G A SNP ASB9 ENST00000380488 human ensembl 74_37 -1 known silent c.39 p.P13 0.000 NULL pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB9 HGNC ENSG00000102048 108 0 0 67 18 21.1765 L1CAM 0 genome.wustl.edu 37 X 153128280 153128280 + Silent SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 153128280 153128280 A G SNP L1CAM ENST00000543994 human ensembl 74_37 -1 known silent c.3618 p.S1206 1.000 NULL 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_dom - no_errors L1CAM HGNC ENSG00000198910 73 0 0 44 24 35.2941 L1CAM 0 genome.wustl.edu 37 X 153135593 153135593 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 153135593 153135593 G A SNP L1CAM ENST00000543994 human ensembl 74_37 -1 known silent c.915 p.G305 0.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom 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_dom - no_errors L1CAM HGNC ENSG00000198910 303 1 0.328947 243 113 31.7416 AVPR2 0 genome.wustl.edu 37 X 153171222 153171222 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 153171222 153171222 G A SNP AVPR2 ENST00000337474 human ensembl 74_37 +1 known missense c.262 p.V88M 0.999 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Vprsn_rcpt_V2,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn - no_errors AVPR2 HGNC ENSG00000126895 83 0 0 60 31 34.0659 ARHGAP4 0 genome.wustl.edu 37 X 153175255 153175255 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 153175255 153175255 C T SNP ARHGAP4 ENST00000350060 human ensembl 74_37 -1 known missense c.2354 p.R785Q 0.958 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP4 HGNC ENSG00000089820 20 0 0 18 7 28 HCFC1 0 genome.wustl.edu 37 X 153227068 153227068 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 153227068 153227068 C T SNP HCFC1 ENST00000310441 human ensembl 74_37 -1 known missense c.829 p.V277I 1.000 pfam_Kelch_1 pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC ENSG00000172534 28 0 0 21 5 19.2308 IRAK1 0 genome.wustl.edu 37 X 153282398 153282398 + Splice_Site SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 153282398 153282398 A G SNP IRAK1 ENST00000369980 human ensembl 74_37 -1 known splice_site c.1028+2 e8+2 1.000 - - - no_errors IRAK1 HGNC ENSG00000184216 75 0 0 60 12 16.6667 GDI1 0 genome.wustl.edu 37 X 153670218 153670218 + RNA SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 153670218 153670218 G A SNP GDI1 ENST00000465640 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GDI1 HGNC ENSG00000203879 15 0 0 12 4 25 PLXNA3 0 genome.wustl.edu 37 X 153691782 153691782 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 153691782 153691782 G A SNP PLXNA3 ENST00000369682 human ensembl 74_37 +1 known missense c.1366 p.V456M 0.999 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA3 HGNC ENSG00000130827 126 0 0 154 11 6.66667 PHKA2 0 genome.wustl.edu 37 X 18954173 18954173 + Missense_Mutation SNP C C A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 18954173 18954173 C A SNP PHKA2 ENST00000379942 human ensembl 74_37 -1 known missense c.1137 p.K379N 1.000 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA2 HGNC ENSG00000044446 27 0 0 33 3 8.33333 MAP3K15 0 genome.wustl.edu 37 X 19475045 19475045 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 19475045 19475045 C T SNP MAP3K15 ENST00000338883 human ensembl 74_37 -1 known silent c.981 p.A327 0.074 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K15 HGNC ENSG00000180815 27 0 0 9 10 52.6316 POLA1 0 genome.wustl.edu 37 X 24734570 24734570 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 24734570 24734570 C T SNP POLA1 ENST00000379068 human ensembl 74_37 +1 known missense c.617 p.T206M 1.000 tigrfam_DNA-dir_DNA_pol_B_pol2 pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_Znf_DNA-dir_DNA_pol_B_alpha,pfam_DNA_pol_a_cat_su_N,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 - no_errors POLA1 HGNC ENSG00000101868 35 0 0 22 10 31.25 MXRA5 0 genome.wustl.edu 37 X 3235466 3235466 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 3235466 3235466 C T SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known missense c.6256 p.G2086S 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,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_dom - no_errors MXRA5 HGNC ENSG00000101825 9 0 0 9 10 52.6316 RPGR 0 genome.wustl.edu 37 X 38160591 38160591 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 38160591 38160591 C T SNP RPGR ENST00000378505 human ensembl 74_37 -1 known missense c.968 p.R323H 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RPGR HGNC ENSG00000156313 48 0 0 22 7 24.1379 DDX3X 0 genome.wustl.edu 37 X 41205860 41205860 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 41205860 41205860 C T SNP DDX3X ENST00000399959 human ensembl 74_37 +1 known missense c.1600 p.R534C 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX3X HGNC ENSG00000215301 159 0 0 55 17 23.6111 USP11 0 genome.wustl.edu 37 X 47100030 47100030 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 47100030 47100030 C T SNP USP11 ENST00000218348 human ensembl 74_37 +1 known silent c.855 p.S285 0.614 NULL pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19/C67 - no_errors USP11 HGNC ENSG00000102226 68 0 0 47 18 27.6923 WDR13 0 genome.wustl.edu 37 X 48457775 48457775 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 48457775 48457775 G A SNP WDR13 ENST00000218056 human ensembl 74_37 +1 known missense c.317 p.R106H 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR13 HGNC ENSG00000101940 15 0 0 11 4 26.6667 HDAC6 0 genome.wustl.edu 37 X 48674585 48674585 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 48674585 48674585 A G SNP HDAC6 ENST00000444343 human ensembl 74_37 +1 known missense c.1573 p.M525V 0.720 pfam_His_deacetylse_dom pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse - no_errors HDAC6 HGNC ENSG00000094631 118 0 0 81 29 26.3636 KCND1 0 genome.wustl.edu 37 X 48826158 48826158 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 48826158 48826158 C T SNP KCND1 ENST00000218176 human ensembl 74_37 -1 known missense c.521 p.R174Q 1.000 prints_K_chnl_volt-dep_Kv4 pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 - no_errors KCND1 HGNC ENSG00000102057 16 0 0 12 4 25 CCDC22 0 genome.wustl.edu 37 X 49093513 49093513 + RNA SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 49093513 49093513 G A SNP CCDC22 ENST00000490300 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors CCDC22 HGNC ENSG00000101997 31 0 0 17 4 19.0476 DGKK 0 genome.wustl.edu 37 X 50129458 50129458 + RNA SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 50129458 50129458 T C SNP DGKK ENST00000376025 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors DGKK HGNC ENSG00000204466 49 0 0 27 4 12.9032 HUWE1 0 genome.wustl.edu 37 X 53562434 53562434 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 53562434 53562434 C T SNP HUWE1 ENST00000262854 human ensembl 74_37 -1 known missense c.12560 p.R4187H 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 54 0 0 33 10 23.2558 PHF8 0 genome.wustl.edu 37 X 54028591 54028591 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 54028591 54028591 G A SNP PHF8 ENST00000357988 human ensembl 74_37 -1 known missense c.1246 p.R416C 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF8 HGNC ENSG00000172943 60 0 0 33 11 25 AR 0 genome.wustl.edu 37 X 66765720 66765720 + Silent SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 66765720 66765720 G T SNP AR ENST00000374690 human ensembl 74_37 +1 known silent c.732 p.S244 0.842 pfam_Andrgn_rcpt pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 112 0 0 74 4 5.12821 STARD8 0 genome.wustl.edu 37 X 67940852 67940852 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 67940852 67940852 C T SNP STARD8 ENST00000374599 human ensembl 74_37 +1 known silent c.2136 p.Y712 0.958 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors STARD8 HGNC ENSG00000130052 46 0 0 39 11 22 PJA1 0 genome.wustl.edu 37 X 68382735 68382735 + Missense_Mutation SNP C C A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 68382735 68382735 C A SNP PJA1 ENST00000361478 human ensembl 74_37 -1 known missense c.347 p.G116V 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PJA1 HGNC ENSG00000181191 87 0 0 46 22 32.3529 FOXO4 0 genome.wustl.edu 37 X 70321310 70321310 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 70321310 70321310 G A SNP FOXO4 ENST00000374259 human ensembl 74_37 +1 known silent c.1230 p.T410 0.110 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXO4 HGNC ENSG00000184481 32 0 0 22 6 21.4286 XIST 0 genome.wustl.edu 37 X 73047136 73047136 + RNA SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 73047136 73047136 G A SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 106 0 0 76 8 9.52381 UPRT 0 genome.wustl.edu 37 X 74520740 74520740 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 74520740 74520740 A G SNP UPRT ENST00000373383 human ensembl 74_37 +1 known missense c.763 p.I255V 0.998 pfam_PRibTrfase_dom pfam_PRibTrfase_dom - no_errors UPRT HGNC ENSG00000094841 87 0 0 43 17 28.3333 CHM 0 genome.wustl.edu 37 X 85282444 85282444 + RNA SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 85282444 85282444 C T SNP CHM ENST00000483950 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CHM HGNC ENSG00000188419 21 0 0 11 4 26.6667 TBL1X 0 genome.wustl.edu 37 X 9677345 9677345 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 9677345 9677345 G A SNP TBL1X ENST00000217964 human ensembl 74_37 +1 known missense c.1294 p.D432N 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL1X HGNC ENSG00000101849 47 0 0 34 9 20.9302 UBE4B 0 genome.wustl.edu 37 1 10177642 10177642 + Frame_Shift_Del DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 10177642 10177642 A - DEL UBE4B ENST00000343090 human ensembl 74_37 +1 known frame_shift_del c.1322 p.A444fs 1.000 NULL pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4B HGNC ENSG00000130939 21 0 0 18 4 18.1818 CSF1 0 genome.wustl.edu 37 1 110466391 110466391 + Frame_Shift_Del DEL C C - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 110466391 110466391 C - DEL CSF1 ENST00000329608 human ensembl 74_37 +1 known frame_shift_del c.1148 p.Q385fs 0.000 pfam_MCSF-1,pirsf_MCSF-1 pfam_MCSF-1,superfamily_4_helix_cytokine-like_core,pirsf_MCSF-1 - no_errors CSF1 HGNC ENSG00000184371 75 0 0 99 6 5.71429 EXOSC10 0 genome.wustl.edu 37 1 11128120 11128120 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 11128120 11128120 T - DEL EXOSC10 ENST00000376936 human ensembl 74_37 -1 known frame_shift_del c.2572 p.I858fs 0.002 NULL pfam_3'-5'_exonuclease_dom,pfam_Exosome-assoc_fac_Rrp6_N,pfam_HRDC_dom,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_HRDC_dom,pfscan_HRDC_dom - no_errors EXOSC10 HGNC ENSG00000171824 82 0 0 69 14 16.8675 FAM212B 0 genome.wustl.edu 37 1 112281912 112281912 + RNA DEL C C - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 112281912 112281912 C - DEL FAM212B ENST00000527570 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors FAM212B HGNC ENSG00000197852 13 0 0 17 4 19.0476 OLFML3 0 genome.wustl.edu 37 1 114523958 114523959 + Frame_Shift_Ins INS - - C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 114523958 114523959 - C INS OLFML3 ENST00000320334 human ensembl 74_37 +1 known frame_shift_ins c.788_789 p.Y266fs 1.000:1.000 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML3 HGNC ENSG00000116774 93 0 0 76 20 20.8333 VPS13D 0 genome.wustl.edu 37 1 12381923 12381923 + Frame_Shift_Del DEL G G - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 12381923 12381923 G - DEL VPS13D ENST00000358136 human ensembl 74_37 +1 known frame_shift_del c.7606 p.V2536fs 0.984 NULL pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 120 0 0 50 9 15.2542 DVL1 0 genome.wustl.edu 37 1 1273433 1273434 + Frame_Shift_Ins INS - - G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 1273433 1273434 - G INS DVL1 ENST00000378888 human ensembl 74_37 -1 known frame_shift_ins c.1638_1637 p.P547fs 0.781:0.998 pfam_Dishevelled_C-dom pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_fam - no_errors DVL1 HGNC ENSG00000107404 39 0 0 50 8 13.7931 RFX5 0 genome.wustl.edu 37 1 151318741 151318741 + Frame_Shift_Del DEL G G - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 151318741 151318741 G - DEL RFX5 ENST00000290524 human ensembl 74_37 -1 known frame_shift_del c.56 p.P19fs 0.658 NULL pfam_DNA-bd_RFX - no_errors RFX5 HGNC ENSG00000143390 124 1 0.8 110 22 16.6667 POGZ 0 genome.wustl.edu 37 1 151400825 151400826 + Frame_Shift_Ins INS - - T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 151400825 151400826 - T INS POGZ ENST00000271715 human ensembl 74_37 -1 known frame_shift_ins c.633_632 p.V212fs 0.929:0.997 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2 - no_errors POGZ HGNC ENSG00000143442 327 0 0 283 36 11.2853 LINGO4 0 genome.wustl.edu 37 1 151774033 151774033 + Frame_Shift_Del DEL G G - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 151774033 151774033 G - DEL LINGO4 ENST00000368820 human ensembl 74_37 -1 known frame_shift_del c.1148 p.P383fs 1.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,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_dom - no_errors LINGO4 HGNC ENSG00000213171 48 0 0 60 5 7.69231 SLC27A3 0 genome.wustl.edu 37 1 153751859 153751860 + Frame_Shift_Ins INS - - C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 153751859 153751860 - C INS SLC27A3 ENST00000368661 human ensembl 74_37 +1 known frame_shift_ins c.1926_1927 p.H644fs 0.196:0.247 NULL pfam_AMP-dep_Synth/Lig - no_errors SLC27A3 HGNC ENSG00000143554 139 0 0 127 9 6.61765 RAB13 0 genome.wustl.edu 37 1 153954817 153954818 + RNA DEL AC AC - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 153954817 153954818 AC - DEL RAB13 ENST00000462680 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RAB13 HGNC ENSG00000143545 231 2 0.858369 250 45 15.2542 ADAR 0 genome.wustl.edu 37 1 154571020 154571020 + Frame_Shift_Del DEL G G - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 154571020 154571020 G - DEL ADAR ENST00000292205 human ensembl 74_37 -1 known frame_shift_del c.1772 p.P591fs 1.000 pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom pfam_A_deamin,pfam_dsRNA_A_deaminase,pfam_dsRNA-bd_dom,smart_dsRNA_A_deaminase,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_dsRNA_A_deaminase,pfscan_A_deamin - no_errors ADAR HGNC ENSG00000160710 113 0 0 88 16 15.3846 PAQR6 0 genome.wustl.edu 37 1 156213615 156213616 + RNA INS - - C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 156213615 156213616 - C INS PAQR6 ENST00000468632 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.002 - - - no_errors PAQR6 HGNC ENSG00000160781 288 0 0 204 60 22.7273 VHLL 0 genome.wustl.edu 37 1 156268590 156268591 + Frame_Shift_Ins INS - - A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 156268590 156268591 - A INS VHLL ENST00000339922 human ensembl 74_37 -1 known frame_shift_ins c.391_390 p.A130fs 0.993:0.999 pfam_VHL_tumour_suppress_b/a_dom,superfamily_VHL_tumour_suppress_b/a_dom pfam_VHL_tumour_suppress_b/a_dom,superfamily_VHL_tumour_suppress_b/a_dom - no_errors VHLL HGNC ENSG00000189030 128 0 0 109 12 9.91736 IGSF9 0 genome.wustl.edu 37 1 159898247 159898247 + Frame_Shift_Del DEL G G - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 159898247 159898247 G - DEL IGSF9 ENST00000368094 human ensembl 74_37 -1 known frame_shift_del c.2931 p.R978fs 0.124 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF9 HGNC ENSG00000085552 8 0 0 8 3 27.2727 PIGM 0 genome.wustl.edu 37 1 160000584 160000584 + Frame_Shift_Del DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 160000584 160000584 A - DEL PIGM ENST00000368090 human ensembl 74_37 -1 known frame_shift_del c.946 p.C316fs 1.000 pfam_Mannosyltransferase_DXD pfam_Mannosyltransferase_DXD - no_errors PIGM HGNC ENSG00000143315 43 0 0 19 10 34.4828 ANGPTL1 0 genome.wustl.edu 37 1 178834299 178834299 + Frame_Shift_Del DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 178834299 178834299 A - DEL ANGPTL1 ENST00000234816 human ensembl 74_37 -1 known frame_shift_del c.613 p.S205fs 1.000 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPTL1 HGNC ENSG00000116194 150 0 0 67 22 24.7191 DHX9 0 genome.wustl.edu 37 1 182856514 182856514 + Frame_Shift_Del DEL G G - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 182856514 182856514 G - DEL DHX9 ENST00000367549 human ensembl 74_37 +1 known frame_shift_del c.3758 p.A1255fs 0.996 NULL pfam_dsRNA-bd_dom,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_dsRNA-bd_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom - no_errors DHX9 HGNC ENSG00000135829 36 0 0 27 6 18.1818 GABRD 0 genome.wustl.edu 37 1 1956773 1956774 + Frame_Shift_Ins INS - - C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 1956773 1956774 - C INS GABRD ENST00000378585 human ensembl 74_37 +1 known frame_shift_ins c.182_183 p.V64fs 0.996:0.018 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAd_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRD HGNC ENSG00000187730 123 0 0 138 33 19.2982 CAPZB 0 genome.wustl.edu 37 1 19671731 19671731 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 19671731 19671731 T - DEL CAPZB ENST00000433834 human ensembl 74_37 -1 known frame_shift_del c.691 p.T231fs 1.000 pfam_CapZ_beta pfam_CapZ_beta,prints_CapZ_beta - no_errors CAPZB HGNC ENSG00000077549 131 0 0 116 28 19.4444 PPP1R12B 0 genome.wustl.edu 37 1 202549645 202549645 + Frame_Shift_Del DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 202549645 202549645 A - DEL PPP1R12B ENST00000336894 human ensembl 74_37 +1 known frame_shift_del c.2906 p.N970fs 1.000 pirsf_Pase-1_reg_su_12A/B/C_euk pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_12A/B/C_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12B HGNC ENSG00000077157 65 0 0 41 17 29.3103 PLXNA2 0 genome.wustl.edu 37 1 208391175 208391176 + Frame_Shift_Ins INS - - G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 208391175 208391176 - G INS PLXNA2 ENST00000367033 human ensembl 74_37 -1 known frame_shift_ins c.93_92 p.A32fs 0.000:0.000 pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA2 HGNC ENSG00000076356 104 0 0 92 19 17.1171 PPP2R5A 0 genome.wustl.edu 37 1 212534111 212534111 + Frame_Shift_Del DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 212534111 212534111 A - DEL PPP2R5A ENST00000261461 human ensembl 74_37 +1 known frame_shift_del c.1460 p.*487fs 0.032 NULL pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5A HGNC ENSG00000066027 27 0 0 24 3 11.1111 SMYD2 0 genome.wustl.edu 37 1 214505400 214505402 + In_Frame_Del DEL AGA AGA - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 214505400 214505402 AGA - DEL SMYD2 ENST00000366957 human ensembl 74_37 +1 known in_frame_del c.977_979 p.K327in_frame_del 1.000:1.000:1.000 NULL pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD2 HGNC ENSG00000143499 41 0 0 38 7 15.5556 USP48 0 genome.wustl.edu 37 1 22033386 22033388 + In_Frame_Del DEL AAA AAA - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 22033386 22033388 AAA - DEL USP48 ENST00000529637 human ensembl 74_37 -1 novel in_frame_del c.1975_1973 p.F658in_frame_del 0.000:0.000:0.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup - no_errors USP48 HGNC ENSG00000090686 26 0 0 4 5 55.5556 HNRNPR 0 genome.wustl.edu 37 1 23636875 23636875 + RNA DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 23636875 23636875 T - DEL HNRNPR ENST00000476660 human ensembl 74_37 -1 known rna NULL NULL 0.936 - - - no_errors HNRNPR HGNC ENSG00000125944 64 0 0 37 14 27.451 ZNF692 0 genome.wustl.edu 37 1 249151580 249151581 + Frame_Shift_Ins INS - - C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 249151580 249151581 - C INS ZNF692 ENST00000451251 human ensembl 74_37 -1 known frame_shift_ins c.343_342 p.L114fs 1.000:0.996 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF692 HGNC ENSG00000171163 102 0 0 92 23 20 ARID1A 0 genome.wustl.edu 37 1 27089705 27089706 + Frame_Shift_Ins INS - - G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 27089705 27089706 - G INS ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_ins c.2661_2662 p.M889fs 0.991:1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 43 0 0 35 9 20.4545 ARID1A 0 genome.wustl.edu 37 1 27105931 27105931 + Frame_Shift_Del DEL G G - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 27105931 27105931 G - DEL ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_del c.5542 p.D1850fs 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 139 0 0 147 35 19.2308 C1orf172 0 genome.wustl.edu 37 1 27278443 27278443 + Frame_Shift_Del DEL G G - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 27278443 27278443 G - DEL C1orf172 ENST00000320567 human ensembl 74_37 -1 known frame_shift_del c.429 p.S144fs 0.427 NULL NULL - no_errors C1orf172 HGNC ENSG00000175707 41 0 0 48 8 14.2857 WDTC1 0 genome.wustl.edu 37 1 27621108 27621108 + Frame_Shift_Del DEL G G - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 27621108 27621108 G - DEL WDTC1 ENST00000319394 human ensembl 74_37 +1 known frame_shift_del c.861 p.E290fs 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDTC1 HGNC ENSG00000142784 52 0 0 18 14 43.75 S100PBP 0 genome.wustl.edu 37 1 33292220 33292221 + Frame_Shift_Del DEL CT CT - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 33292220 33292221 CT - DEL S100PBP ENST00000373475 human ensembl 74_37 +1 known frame_shift_del c.520_521 p.S175fs 0.745:0.800 NULL NULL - no_errors S100PBP HGNC ENSG00000116497 76 0 0 53 13 19.697 ZMPSTE24 0 genome.wustl.edu 37 1 40756543 40756543 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 40756543 40756543 T - DEL ZMPSTE24 ENST00000372759 human ensembl 74_37 +1 known frame_shift_del c.1077 p.L362fs 1.000 pfam_Peptidase_M48 pfam_Peptidase_M48 - no_errors ZMPSTE24 HGNC ENSG00000084073 64 0 0 33 8 19.5122 EIF2B3 0 genome.wustl.edu 37 1 45407182 45407182 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 45407182 45407182 T - DEL EIF2B3 ENST00000360403 human ensembl 74_37 -1 known frame_shift_del c.450 p.A151fs 0.997 NULL pfam_NTP_transferase - no_errors EIF2B3 HGNC ENSG00000070785 91 0 0 40 15 27.2727 PIK3R3 0 genome.wustl.edu 37 1 46511600 46511600 + Frame_Shift_Del DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 46511600 46511600 A - DEL PIK3R3 ENST00000540385 human ensembl 74_37 -1 known frame_shift_del c.1315 p.C439fs 1.000 pfam_SH2,smart_SH2,pfscan_SH2,prints_PI3kinase_P85,prints_SH2 pfam_SH2,smart_SH2,pfscan_SH2,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R3 HGNC ENSG00000117461 220 0 0 87 29 25 RPL22 0 genome.wustl.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 6257785 6257785 T - DEL RPL22 ENST00000234875 human ensembl 74_37 -1 known frame_shift_del c.44 p.K15fs 1.000 pfam_Ribosomal_L22e pfam_Ribosomal_L22e - no_errors RPL22 HGNC ENSG00000116251 41 0 0 13 7 35 ALG6 0 genome.wustl.edu 37 1 63836751 63836751 + Frame_Shift_Del DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 63836751 63836751 A - DEL ALG6 ENST00000487136 human ensembl 74_37 +1 known frame_shift_del c.103 p.T38fs 0.000 NULL NULL - no_errors ALG6 HGNC ENSG00000088035 35 0 0 16 6 27.2727 LRRIQ3 0 genome.wustl.edu 37 1 74575213 74575213 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 74575213 74575213 T - DEL LRRIQ3 ENST00000354431 human ensembl 74_37 -1 known frame_shift_del c.732 p.K244fs 0.004 pfscan_IQ_motif_EF-hand-BS pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ3 HGNC ENSG00000162620 75 0 0 36 10 21.7391 TYW3 0 genome.wustl.edu 37 1 75229741 75229742 + In_Frame_Ins INS - - ATG TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 1 75229741 75229742 - ATG INS TYW3 ENST00000370867 human ensembl 74_37 +1 known in_frame_ins c.724_725 p.246in_frame_insD 0.472:0.203 NULL pfam_tRNA_yW-synthesising,superfamily_tRNA_yW-synthesising - no_errors TYW3 HGNC ENSG00000162623 101 0 0 33 6 15.3846 C10orf88 0 genome.wustl.edu 37 10 124712362 124712365 + Frame_Shift_Del DEL ACAA ACAA - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 ACAA ACAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 10 124712362 124712365 ACAA - DEL C10orf88 ENST00000481909 human ensembl 74_37 -1 known frame_shift_del c.351_348 p.C117fs 0.000:0.014:0.001:0.000 NULL NULL - no_errors C10orf88 HGNC ENSG00000119965 222 0 0 112 15 11.811 ZRANB1 0 genome.wustl.edu 37 10 126631810 126631810 + Frame_Shift_Del DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 10 126631810 126631810 A - DEL ZRANB1 ENST00000359653 human ensembl 74_37 +1 known frame_shift_del c.748 p.K251fs 1.000 NULL pfam_OTU,pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_OTU,pfscan_Znf_RanBP2 - no_errors ZRANB1 HGNC ENSG00000019995 63 0 0 25 8 24.2424 FANK1 0 genome.wustl.edu 37 10 127697890 127697890 + RNA DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 10 127697890 127697890 A - DEL FANK1 ENST00000464130 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FANK1 HGNC ENSG00000203780 51 0 0 26 14 35 CCDC3 0 genome.wustl.edu 37 10 13043355 13043356 + Frame_Shift_Ins INS - - C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 10 13043355 13043356 - C INS CCDC3 ENST00000378825 human ensembl 74_37 -1 known frame_shift_ins c.216_215 p.L73fs 0.983:0.996 NULL NULL - no_errors CCDC3 HGNC ENSG00000151468 13 0 0 12 4 25 VIM 0 genome.wustl.edu 37 10 17271730 17271731 + Frame_Shift_Ins INS - - A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 10 17271730 17271731 - A INS VIM ENST00000224237 human ensembl 74_37 +1 known frame_shift_ins c.309_310 p.V104fs 1.000:1.000 pfam_IF pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin - no_errors VIM HGNC ENSG00000026025 10 0 0 8 3 27.2727 KIAA1217 0 genome.wustl.edu 37 10 24669980 24669983 + Frame_Shift_Del DEL GAAA GAAA - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 GAAA GAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 10 24669980 24669983 GAAA - DEL KIAA1217 ENST00000376454 human ensembl 74_37 +1 known frame_shift_del c.537_540 p.E181fs 0.067:0.998:1.000:0.999 NULL pfam_AIP3_C - no_errors KIAA1217 HGNC ENSG00000120549 58 0 0 46 10 17.8571 MYO3A 0 genome.wustl.edu 37 10 26462760 26462760 + Frame_Shift_Del DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 10 26462760 26462760 A - DEL MYO3A ENST00000265944 human ensembl 74_37 +1 known frame_shift_del c.3567 p.M1192fs 0.509 superfamily_P-loop_NTPase pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC ENSG00000095777 56 0 0 25 3 10.7143 KIAA1462 0 genome.wustl.edu 37 10 30315989 30315989 + Frame_Shift_Del DEL C C - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 10 30315989 30315989 C - DEL KIAA1462 ENST00000375377 human ensembl 74_37 -1 known frame_shift_del c.3088 p.A1030fs 0.000 NULL NULL - no_errors KIAA1462 HGNC ENSG00000165757 111 0 0 85 19 18.2692 ENSG00000235939 0 genome.wustl.edu 37 10 50680934 50680935 + RNA DEL AA AA - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 10 50680934 50680935 AA - DEL ENSG00000235939 ENST00000423283 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-123B3.2 Clone_based_vega_gene ENSG00000235939 22 0 0 18 9 33.3333 EIF4EBP2 0 genome.wustl.edu 37 10 72164272 72164272 + Frame_Shift_Del DEL G G - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 10 72164272 72164272 G - DEL EIF4EBP2 ENST00000373218 human ensembl 74_37 +1 known frame_shift_del c.115 p.T41fs 1.000 pfam_EIF4EBP pfam_EIF4EBP - no_errors EIF4EBP2 HGNC ENSG00000148730 32 0 0 52 6 10.3448 SEC24C 0 genome.wustl.edu 37 10 75525232 75525233 + Frame_Shift_Ins INS - - G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 10 75525232 75525233 - G INS SEC24C ENST00000339365 human ensembl 74_37 +1 known frame_shift_ins c.1251_1252 p.E418fs 0.997:1.000 superfamily_Znf_Sec23_Sec24 pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC24C HGNC ENSG00000176986 124 0 0 107 17 13.7097 VCL 0 genome.wustl.edu 37 10 75842297 75842297 + Frame_Shift_Del DEL C C - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 10 75842297 75842297 C - DEL VCL ENST00000211998 human ensembl 74_37 +1 known frame_shift_del c.869 p.P291fs 0.438 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin - no_errors VCL HGNC ENSG00000035403 52 0 0 28 4 12.5 ZMIZ1 0 genome.wustl.edu 37 10 81072445 81072446 + Frame_Shift_Ins INS - - C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 10 81072445 81072446 - C INS ZMIZ1 ENST00000334512 human ensembl 74_37 +1 known frame_shift_ins c.3143_3144 p.D1051fs 1.000:0.963 NULL pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ1 HGNC ENSG00000108175 385 0 0 272 44 13.9241 IDE 0 genome.wustl.edu 37 10 94297296 94297296 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 10 94297296 94297296 T - DEL IDE ENST00000265986 human ensembl 74_37 -1 known frame_shift_del c.110 p.K37fs 0.008 NULL pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors IDE HGNC ENSG00000119912 32 0 0 13 5 27.7778 ENTPD1-AS1 0 genome.wustl.edu 37 10 97779109 97779109 + RNA DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 10 97779109 97779109 A - DEL ENTPD1-AS1 ENST00000458228 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ENTPD1-AS1 HGNC ENSG00000226688 78 0 0 15 10 40 DYNC2H1 0 genome.wustl.edu 37 11 103349968 103349969 + Frame_Shift_Ins INS - - A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 11 103349968 103349969 - A INS DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known frame_shift_ins c.12932_12933 p.N4313fs 0.996:0.857 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 63 0 0 17 9 34.6154 MPZL3 0 genome.wustl.edu 37 11 118100600 118100601 + Frame_Shift_Del DEL AG AG - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 11 118100600 118100601 AG - DEL MPZL3 ENST00000525386 human ensembl 74_37 -1 novel frame_shift_del c.173_172 p.L58fs 0.000:0.000 NULL NULL - no_errors MPZL3 HGNC ENSG00000160588 33 0 0 11 10 47.619 THYN1 0 genome.wustl.edu 37 11 134118753 134118753 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 11 134118753 134118753 T - DEL THYN1 ENST00000341541 human ensembl 74_37 -1 known frame_shift_del c.581 p.N194fs 0.971 pfam_EVE_domain,superfamily_PUA-like_domain pfam_EVE_domain,superfamily_PUA-like_domain - no_errors THYN1 HGNC ENSG00000151500 80 0 0 38 7 15.5556 PRMT3 0 genome.wustl.edu 37 11 20515777 20515777 + Frame_Shift_Del DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 11 20515777 20515777 A - DEL PRMT3 ENST00000331079 human ensembl 74_37 +1 known frame_shift_del c.1463 p.K489fs 1.000 pfam_Arg_MeTrfase pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_mo5U34_MeTrfas-like,pfam_Methyltransf_11,pfam_Arg_MeTrfase,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors PRMT3 HGNC ENSG00000185238 261 0 0 121 10 7.63359 KCNA4 0 genome.wustl.edu 37 11 30032940 30032940 + Frame_Shift_Del DEL C C - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 11 30032940 30032940 C - DEL KCNA4 ENST00000328224 human ensembl 74_37 -1 known frame_shift_del c.1286 p.G429fs 1.000 pfam_Ion_trans_dom pfam_K_chnl_volt-dep_Kv1.4_TID,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA4 HGNC ENSG00000182255 115 0 0 100 8 7.40741 NUP160 0 genome.wustl.edu 37 11 47837025 47837028 + RNA DEL ACTT ACTT - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 ACTT ACTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 11 47837025 47837028 ACTT - DEL NUP160 ENST00000531016 human ensembl 74_37 -1 putative rna NULL NULL 0.029:0.884:1.000:1.000 - - - no_errors NUP160 HGNC ENSG00000030066 79 0 0 42 16 27.5862 TRIM22 0 genome.wustl.edu 37 11 5717765 5717765 + Frame_Shift_Del DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 11 5717765 5717765 A - DEL TRIM22 ENST00000379965 human ensembl 74_37 +1 known frame_shift_del c.303 p.K103fs 0.995 pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM22 HGNC ENSG00000132274 64 0 0 39 7 15.2174 RCOR2 0 genome.wustl.edu 37 11 63681910 63681910 + Frame_Shift_Del DEL C C - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 11 63681910 63681910 C - DEL RCOR2 ENST00000301459 human ensembl 74_37 -1 known frame_shift_del c.584 p.G195fs 1.000 NULL pfam_SANT/Myb,pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors RCOR2 HGNC ENSG00000167771 167 1 0.595238 101 49 32.6667 KLC2 0 genome.wustl.edu 37 11 66033663 66033664 + Frame_Shift_Ins INS - - C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 11 66033663 66033664 - C INS KLC2 ENST00000316924 human ensembl 74_37 +1 known frame_shift_ins c.1702_1703 p.Q570fs 0.751:0.984 NULL pfam_Rabaptin_Rab5-bd_dom,pfam_TPR_1,smart_TPR_repeat,prints_Kinesin_light,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KLC2 HGNC ENSG00000174996 46 0 0 25 17 40.4762 UHRF1BP1L 0 genome.wustl.edu 37 12 100452511 100452512 + Frame_Shift_Ins INS - - A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 12 100452511 100452512 - A INS UHRF1BP1L ENST00000279907 human ensembl 74_37 -1 known frame_shift_ins c.2544_2543 p.T849fs 1.000:1.000 NULL NULL - no_errors UHRF1BP1L HGNC ENSG00000111647 44 0 0 15 8 34.7826 KDM2B 0 genome.wustl.edu 37 12 121881493 121881496 + Frame_Shift_Del DEL AAGT AAGT - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 AAGT AAGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 12 121881493 121881496 AAGT - DEL KDM2B ENST00000377071 human ensembl 74_37 -1 known frame_shift_del c.2555_2552 p.Y851fs 1.000:1.000:1.000:1.000 NULL pfam_Znf_CXXC,pfam_F-box_dom,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2B HGNC ENSG00000089094 91 0 0 84 18 17.6471 TMEM132B 0 genome.wustl.edu 37 12 126138565 126138565 + Frame_Shift_Del DEL C C - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 12 126138565 126138565 C - DEL TMEM132B ENST00000299308 human ensembl 74_37 +1 known frame_shift_del c.2546 p.Q851fs 0.997 NULL NULL - no_errors TMEM132B HGNC ENSG00000139364 39 0 0 31 10 24.3902 EMP1 0 genome.wustl.edu 37 12 13364427 13364428 + RNA DEL AA AA - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 12 13364427 13364428 AA - DEL EMP1 ENST00000542289 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors EMP1 HGNC ENSG00000134531 69 0 0 39 17 30.3571 KMT2D 0 genome.wustl.edu 37 12 49434136 49434136 + Frame_Shift_Del DEL G G - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 12 49434136 49434136 G - DEL KMT2D ENST00000301067 human ensembl 74_37 -1 known frame_shift_del c.7417 p.Q2473fs 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 112 0 0 98 15 13.2743 TENC1 0 genome.wustl.edu 37 12 53455663 53455665 + In_Frame_Del DEL AGG AGG - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 12 53455663 53455665 AGG - DEL TENC1 ENST00000314276 human ensembl 74_37 +1 known in_frame_del c.3543_3545 p.G1182in_frame_del 1.000:1.000:1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TENC1 HGNC ENSG00000111077 201 0 0 158 28 15.0538 MBD6 0 genome.wustl.edu 37 12 57919936 57919936 + Frame_Shift_Del DEL C C - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 12 57919936 57919936 C - DEL MBD6 ENST00000355673 human ensembl 74_37 +1 known frame_shift_del c.1185 p.Q397fs 0.645 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC ENSG00000166987 115 0 0 104 34 24.6377 MDM2 0 genome.wustl.edu 37 12 69233090 69233090 + Frame_Shift_Del DEL C C - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 12 69233090 69233090 C - DEL MDM2 ENST00000462284 human ensembl 74_37 +1 known frame_shift_del c.955 p.L321fs 1.000 pfam_Znf_RanBP2,pirsf_p53_neg-reg_MDM_2/4,pfscan_Znf_RanBP2 pfam_SWIB_MDM2_domain,pfam_Znf_RanBP2,superfamily_SWIB_MDM2_domain,pirsf_p53_neg-reg_MDM_2/4,pfscan_Znf_RanBP2,pfscan_Znf_RING - no_errors MDM2 HGNC ENSG00000135679 161 1 0.617284 108 14 11.4754 CD4 0 genome.wustl.edu 37 12 6924042 6924043 + Frame_Shift_Ins INS - - G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 12 6924042 6924043 - G INS CD4 ENST00000011653 human ensembl 74_37 +1 known frame_shift_ins c.491_492 p.K167fs 0.000:0.000 pfam_Ig_C2-set,smart_Ig_sub,smart_Ig_sub2 pfam_CD4-extracel,pfam_Ig_C2-set,pfam_Tcell_CD4_Cterm,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,pfam_NK_rcpt_2B4_Ig_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_Ag_CD4 - no_errors CD4 HGNC ENSG00000010610 110 0 0 58 11 15.942 BEST3 0 genome.wustl.edu 37 12 70049362 70049362 + Frame_Shift_Del DEL G G - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 12 70049362 70049362 G - DEL BEST3 ENST00000330891 human ensembl 74_37 -1 known frame_shift_del c.1332 p.R445fs 0.001 NULL pfam_Bestrophin/UPF0187 - no_errors BEST3 HGNC ENSG00000127325 56 0 0 73 7 8.75 TPP2 0 genome.wustl.edu 37 13 103266508 103266509 + Frame_Shift_Del DEL TA TA - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 13 103266508 103266509 TA - DEL TPP2 ENST00000376065 human ensembl 74_37 +1 known frame_shift_del c.352_353 p.Y118fs 1.000:1.000 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S8/S53_dom,pfam_Peptidase_S8A_TPPII,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel - no_errors TPP2 HGNC ENSG00000134900 91 0 0 32 8 20 RNF17 0 genome.wustl.edu 37 13 25378457 25378458 + Frame_Shift_Ins INS - - A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 13 25378457 25378458 - A INS RNF17 ENST00000255324 human ensembl 74_37 +1 known frame_shift_ins c.1981_1982 p.N663fs 1.000:1.000 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING - no_errors RNF17 HGNC ENSG00000132972 42 0 0 14 4 22.2222 NHLRC3 0 genome.wustl.edu 37 13 39616313 39616313 + Frame_Shift_Del DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 13 39616313 39616313 A - DEL NHLRC3 ENST00000379600 human ensembl 74_37 +1 known frame_shift_del c.457 p.G155fs 0.997 NULL pfam_NHL_repeat,pfscan_NHL_repeat_subgr - no_errors NHLRC3 HGNC ENSG00000188811 109 0 0 36 12 25 SLC25A15 0 genome.wustl.edu 37 13 41367407 41367407 + Frame_Shift_Del DEL G G - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 13 41367407 41367407 G - DEL SLC25A15 ENST00000338625 human ensembl 74_37 +1 known frame_shift_del c.45 p.A17fs 0.092 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A15 HGNC ENSG00000102743 40 0 0 23 5 17.8571 FBXL3 0 genome.wustl.edu 37 13 77581488 77581488 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 13 77581488 77581488 T - DEL FBXL3 ENST00000355619 human ensembl 74_37 -1 known frame_shift_del c.1079 p.N360fs 1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom - no_errors FBXL3 HGNC ENSG00000005812 71 0 0 34 13 27.6596 INF2 0 genome.wustl.edu 37 14 105174184 105174185 + Frame_Shift_Ins INS - - C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 14 105174184 105174185 - C INS INF2 ENST00000392634 human ensembl 74_37 +1 known frame_shift_ins c.1580_1581 p.V530fs 0.003:0.011 NULL pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_WH2_dom,superfamily_ARM-type_fold,smart_FH2_Formin,pfscan_WH2_dom - no_errors INF2 HGNC ENSG00000203485 16 0 0 7 3 30 MYH7 0 genome.wustl.edu 37 14 23896463 23896464 + Frame_Shift_Del DEL AC AC - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 14 23896463 23896464 AC - DEL MYH7 ENST00000355349 human ensembl 74_37 -1 known frame_shift_del c.1942_1941 p.A649fs 1.000:1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 171 0 0 139 35 20.1149 G2E3 0 genome.wustl.edu 37 14 31071299 31071302 + Frame_Shift_Del DEL CAGA CAGA - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 CAGA CAGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 14 31071299 31071302 CAGA - DEL G2E3 ENST00000206595 human ensembl 74_37 +1 known frame_shift_del c.972_975 p.R325fs 0.990:0.998:1.000:0.999 NULL pfam_HECT,superfamily_HECT,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_HECT,pfscan_HECT - no_errors G2E3 HGNC ENSG00000092140 91 0 0 36 8 18.1818 ARHGAP5 0 genome.wustl.edu 37 14 32560445 32560445 + Frame_Shift_Del DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 14 32560445 32560445 A - DEL ARHGAP5 ENST00000345122 human ensembl 74_37 +1 known frame_shift_del c.570 p.K192fs 0.964 pfam_Small_GTPase,superfamily_P-loop_NTPase,prints_Small_GTPase pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ENSG00000100852 55 0 0 9 7 43.75 NID2 0 genome.wustl.edu 37 14 52481919 52481919 + Frame_Shift_Del DEL G G - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 14 52481919 52481919 G - DEL NID2 ENST00000216286 human ensembl 74_37 -1 known frame_shift_del c.3103 p.R1035fs 0.061 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,pfscan_Thyroglobulin_1 pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID2 HGNC ENSG00000087303 113 1 0.877193 86 22 20.3704 SYNE2 0 genome.wustl.edu 37 14 64450477 64450478 + Frame_Shift_Ins INS - - A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 14 64450477 64450478 - A INS SYNE2 ENST00000358025 human ensembl 74_37 +1 known frame_shift_ins c.2024_2025 p.Q678fs 0.000:0.000 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 70 0 0 20 4 16.6667 PCNX 0 genome.wustl.edu 37 14 71500186 71500186 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 14 71500186 71500186 T - DEL PCNX ENST00000304743 human ensembl 74_37 +1 known frame_shift_del c.3599 p.C1202fs 0.282 NULL pfam_Pecanex - no_errors PCNX HGNC ENSG00000100731 96 0 0 36 12 25 ENSG00000259540 0 genome.wustl.edu 37 15 101098956 101098958 + RNA DEL CTC CTC - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 15 101098956 101098958 CTC - DEL ENSG00000259540 ENST00000557839 human ensembl 74_37 +1 known rna NULL NULL 0.989:0.994:0.989 - - - no_errors RP11-526I2.1 Clone_based_vega_gene ENSG00000259540 51 0 0 54 7 11.4754 BAHD1 0 genome.wustl.edu 37 15 40750958 40750958 + Frame_Shift_Del DEL C C - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 15 40750958 40750958 C - DEL BAHD1 ENST00000416165 human ensembl 74_37 +1 known frame_shift_del c.295 p.S101fs 0.991 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors BAHD1 HGNC ENSG00000140320 74 0 0 63 19 23.1707 MGA 0 genome.wustl.edu 37 15 42034971 42034971 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 15 42034971 42034971 T - DEL MGA ENST00000219905 human ensembl 74_37 +1 known frame_shift_del c.4813 p.L1606fs 0.997 NULL pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 100 0 0 51 6 10.5263 MNS1 0 genome.wustl.edu 37 15 56736723 56736723 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 15 56736723 56736723 T - DEL MNS1 ENST00000260453 human ensembl 74_37 -1 known frame_shift_del c.605 p.K202fs 1.000 NULL NULL - no_errors MNS1 HGNC ENSG00000138587 45 0 0 11 11 50 MAP2K5 0 genome.wustl.edu 37 15 67938762 67938762 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 15 67938762 67938762 T - DEL MAP2K5 ENST00000178640 human ensembl 74_37 +1 known frame_shift_del c.691 p.F232fs 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP2K5 HGNC ENSG00000137764 63 0 0 18 8 30.7692 MESDC2 0 genome.wustl.edu 37 15 81271633 81271633 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 15 81271633 81271633 T - DEL MESDC2 ENST00000261758 human ensembl 74_37 -1 known frame_shift_del c.632 p.K211fs 1.000 pfam_Mesoderm_development_cand-2 pfam_Mesoderm_development_cand-2 - no_errors MESDC2 HGNC ENSG00000117899 51 0 0 33 16 32.6531 BFAR 0 genome.wustl.edu 37 16 14749040 14749041 + Frame_Shift_Ins INS - - C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 16 14749040 14749041 - C INS BFAR ENST00000261658 human ensembl 74_37 +1 known frame_shift_ins c.756_757 p.Q254fs 1.000:1.000 NULL pfam_SAM_type1,pfam_Znf_C3HC4_RING-type,pfam_SAM_2,superfamily_SAM/pointed,smart_Znf_RING,smart_SAM,pfscan_SAM,pfscan_Znf_RING - no_errors BFAR HGNC ENSG00000103429 73 0 0 73 9 10.9756 MAZ 0 genome.wustl.edu 37 16 29818053 29818054 + Frame_Shift_Ins INS - - C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 16 29818053 29818054 - C INS MAZ ENST00000219782 human ensembl 74_37 +1 known frame_shift_ins c.31_32 p.F14fs 0.017:0.006 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors MAZ HGNC ENSG00000103495 19 0 0 22 12 35.2941 CREBBP 0 genome.wustl.edu 37 16 3817721 3817721 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 16 3817721 3817721 T - DEL CREBBP ENST00000262367 human ensembl 74_37 -1 known frame_shift_del c.3250 p.I1084fs 1.000 superfamily_Bromodomain,smart_Bromodomain pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 120 0 0 76 19 20 RBL2 0 genome.wustl.edu 37 16 53513902 53513905 + Frame_Shift_Del DEL AAGT AAGT - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 AAGT AAGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 16 53513902 53513905 AAGT - DEL RBL2 ENST00000262133 human ensembl 74_37 +1 known frame_shift_del c.2880_2881 p.R960fs 1.000:1.000 pfam_RB_B,superfamily_Cyclin-like pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RBL2 HGNC ENSG00000103479 16 0 0 13 4 23.5294 CTCF 0 genome.wustl.edu 37 16 67671654 67671655 + Frame_Shift_Ins INS - - A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 16 67671654 67671655 - A INS CTCF ENST00000264010 human ensembl 74_37 +1 known frame_shift_ins c.2063_2064 p.E691fs 1.000:0.979 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCF HGNC ENSG00000102974 50 0 0 46 6 11.5385 GSE1 0 genome.wustl.edu 37 16 85682289 85682290 + Frame_Shift_Ins INS - - C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 16 85682289 85682290 - C INS GSE1 ENST00000253458 human ensembl 74_37 +1 known frame_shift_ins c.358_359 p.V123fs 1.000:0.999 pfam_GSE-like pfam_GSE-like - no_errors GSE1 HGNC ENSG00000131149 130 1 0.763359 124 24 16.2162 C16orf74 0 genome.wustl.edu 37 16 85743813 85743813 + Frame_Shift_Del DEL G G - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 16 85743813 85743813 G - DEL C16orf74 ENST00000284245 human ensembl 74_37 -1 known frame_shift_del c.129 p.T44fs 0.601 NULL NULL - no_errors C16orf74 HGNC ENSG00000154102 11 0 0 9 2 18.1818 PRPSAP2 0 genome.wustl.edu 37 17 18832236 18832236 + Frame_Shift_Del DEL C C - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 18832236 18832236 C - DEL PRPSAP2 ENST00000268835 human ensembl 74_37 +1 known frame_shift_del c.917 p.R308fs 1.000 tigrfam_Rib-P_diPkinase tigrfam_Rib-P_diPkinase - no_errors PRPSAP2 HGNC ENSG00000141127 196 0 0 162 11 6.35838 ALDH3A1 0 genome.wustl.edu 37 17 19641649 19641649 + Frame_Shift_Del DEL G G - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 19641649 19641649 G - DEL ALDH3A1 ENST00000225740 human ensembl 74_37 -1 known frame_shift_del c.1334 p.P445fs 0.889 superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) - no_errors ALDH3A1 HGNC ENSG00000108602 82 0 0 111 10 8.26446 CDK12 0 genome.wustl.edu 37 17 37646922 37646922 + Frame_Shift_Del DEL C C - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 37646922 37646922 C - DEL CDK12 ENST00000447079 human ensembl 74_37 +1 known frame_shift_del c.2044 p.P683fs 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK12 HGNC ENSG00000167258 53 0 0 43 13 23.2143 DHX58 0 genome.wustl.edu 37 17 40263776 40263777 + Frame_Shift_Del DEL CA CA - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 40263776 40263777 CA - DEL DHX58 ENST00000251642 human ensembl 74_37 -1 known frame_shift_del c.135_134 p.V45fs 0.345:0.521 pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX58 HGNC ENSG00000108771 118 0 0 133 38 22.2222 SGCA 0 genome.wustl.edu 37 17 48246512 48246512 + Frame_Shift_Del DEL C C - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 48246512 48246512 C - DEL SGCA ENST00000262018 human ensembl 74_37 +1 known frame_shift_del c.644 p.D217fs 0.973 pfam_Sarcoglycan_2 pfam_Sarcoglycan_2,superfamily_Cadherin-like,smart_Cadg - no_errors SGCA HGNC ENSG00000108823 95 0 0 93 6 6.06061 NUP88 0 genome.wustl.edu 37 17 5322735 5322737 + In_Frame_Del DEL AAG AAG - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 5322735 5322737 AAG - DEL NUP88 ENST00000573584 human ensembl 74_37 -1 known in_frame_del c.236_234 p.F78in_frame_del 0.119:0.091:0.342 pfam_Nucleoporin_Nup88 pfam_Nucleoporin_Nup88 - no_errors NUP88 HGNC ENSG00000108559 68 0 0 23 14 37.8378 RNF43 0 genome.wustl.edu 37 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 56435161 56435161 C - DEL RNF43 ENST00000407977 human ensembl 74_37 -1 known frame_shift_del c.1976 p.G659fs 0.900 NULL pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 153 0 0 159 44 21.6749 TBC1D3P2 0 genome.wustl.edu 37 17 60344584 60344587 + RNA DEL GAGA GAGA - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 GAGA GAGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 60344584 60344587 GAGA - DEL TBC1D3P2 ENST00000339120 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000:1.000:0.999 - - - no_errors TBC1D3P2 HGNC ENSG00000188755 303 0 0 257 24 8.54093 MRC2 0 genome.wustl.edu 37 17 60766915 60766915 + Frame_Shift_Del DEL C C - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 60766915 60766915 C - DEL MRC2 ENST00000303375 human ensembl 74_37 +1 known frame_shift_del c.3367 p.A1125fs 0.892 smart_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC2 HGNC ENSG00000011028 19 0 0 23 2 8 NOL11 0 genome.wustl.edu 37 17 65718702 65718703 + Frame_Shift_Del DEL AA AA - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 65718702 65718703 AA - DEL NOL11 ENST00000253247 human ensembl 74_37 +1 known frame_shift_del c.468_469 p.K157fs 0.592:0.544 NULL pfam_NUC205 - no_errors NOL11 HGNC ENSG00000130935 30 0 0 8 3 27.2727 FAM104A 0 genome.wustl.edu 37 17 71228437 71228437 + Frame_Shift_Del DEL C C - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 71228437 71228437 C - DEL FAM104A ENST00000405159 human ensembl 74_37 -1 known frame_shift_del c.9 p.R4fs 1.000 NULL NULL - no_errors FAM104A HGNC ENSG00000133193 50 0 0 68 20 22.7273 TP53 0 genome.wustl.edu 37 17 7578475 7578475 + Frame_Shift_Del DEL G G - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 7578475 7578475 G - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_del c.455 p.P152fs 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 90 0 0 65 29 30.8511 ENGASE 0 genome.wustl.edu 37 17 77081777 77081779 + In_Frame_Del DEL GGA GGA - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 77081777 77081779 GGA - DEL ENGASE ENST00000579016 human ensembl 74_37 +1 known in_frame_del c.1776_1778 p.E595in_frame_del 0.000:0.000:0.012 NULL pfam_Glyco_hydro_85,pfscan_BRCT_dom - no_errors ENGASE HGNC ENSG00000167280 47 0 0 60 8 11.7647 KDM6B 0 genome.wustl.edu 37 17 7753244 7753244 + Frame_Shift_Del DEL C C - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 7753244 7753244 C - DEL KDM6B ENST00000254846 human ensembl 74_37 +1 known frame_shift_del c.3546 p.P1184fs 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM6B HGNC ENSG00000132510 387 0 0 188 71 27.4131 HEXDC 0 genome.wustl.edu 37 17 80400297 80400298 + Frame_Shift_Ins INS - - G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 17 80400297 80400298 - G INS HEXDC ENST00000337014 human ensembl 74_37 +1 known frame_shift_ins c.1587_1588 p.A531fs 0.001:0.000 NULL pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF - no_errors HEXDC HGNC ENSG00000169660 55 0 0 58 15 20.5479 C19orf26 0 genome.wustl.edu 37 19 1229343 1229343 + Frame_Shift_Del DEL C C - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 1229343 1229343 C - DEL C19orf26 ENST00000382477 human ensembl 74_37 -1 known frame_shift_del c.2013 p.C672fs 0.006 NULL NULL - no_errors C19orf26 HGNC ENSG00000099625 13 0 0 13 3 18.75 MYO9B 0 genome.wustl.edu 37 19 17322818 17322818 + Frame_Shift_Del DEL C C - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 17322818 17322818 C - DEL MYO9B ENST00000594824 human ensembl 74_37 +1 known frame_shift_del c.6173 p.R2060fs 0.933 NULL pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9B HGNC ENSG00000099331 42 0 0 41 10 19.6078 SUGP2 0 genome.wustl.edu 37 19 19136394 19136394 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 19136394 19136394 T - DEL SUGP2 ENST00000337018 human ensembl 74_37 -1 known frame_shift_del c.763 p.I255fs 0.000 NULL pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors SUGP2 HGNC ENSG00000064607 147 0 0 88 21 19.2661 SPPL2B 0 genome.wustl.edu 37 19 2338759 2338759 + RNA DEL G G - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 2338759 2338759 G - DEL SPPL2B ENST00000382189 human ensembl 74_37 +1 known rna NULL NULL 0.342 - - - no_errors SPPL2B HGNC ENSG00000005206 27 0 0 37 14 27.451 URI1 0 genome.wustl.edu 37 19 30496293 30496293 + Frame_Shift_Del DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 30496293 30496293 A - DEL URI1 ENST00000542441 human ensembl 74_37 +1 known frame_shift_del c.393 p.V134fs 0.993 pfam_Prefoldin_subunit_alpha,superfamily_Prefoldin pfam_Prefoldin_subunit_alpha,superfamily_Prefoldin - no_errors URI1 HGNC ENSG00000105176 45 0 0 4 4 50 USF2 0 genome.wustl.edu 37 19 35761683 35761684 + Frame_Shift_Ins INS - - C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 35761683 35761684 - C INS USF2 ENST00000222305 human ensembl 74_37 +1 known frame_shift_ins c.643_644 p.R217fs 1.000:1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors USF2 HGNC ENSG00000105698 193 0 0 188 29 13.3641 KMT2B 0 genome.wustl.edu 37 19 36221688 36221688 + Frame_Shift_Del DEL G G - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 36221688 36221688 G - DEL KMT2B ENST00000222270 human ensembl 74_37 +1 known frame_shift_del c.5357 p.P1788fs 0.864 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 15 0 0 25 8 24.2424 HNRNPL 0 genome.wustl.edu 37 19 39330959 39330959 + Frame_Shift_Del DEL G G - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 39330959 39330959 G - DEL HNRNPL ENST00000221419 human ensembl 74_37 -1 known frame_shift_del c.1010 p.P337fs 1.000 tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors HNRNPL HGNC ENSG00000104824 28 0 0 22 3 12 GMFG 0 genome.wustl.edu 37 19 39823749 39823751 + In_Frame_Del DEL CTC CTC - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 39823749 39823751 CTC - DEL GMFG ENST00000597595 human ensembl 74_37 -1 known in_frame_del c.168_166 p.E56in_frame_del 0.998:1.000:1.000 pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,pirsf_GMF-beta pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,pirsf_GMF-beta - no_errors GMFG HGNC ENSG00000130755 82 0 0 62 11 15.0685 ERF 0 genome.wustl.edu 37 19 42753149 42753151 + In_Frame_Del DEL GAA GAA - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 42753149 42753151 GAA - DEL ERF ENST00000222329 human ensembl 74_37 -1 known in_frame_del c.1115_1113 p.S373in_frame_del 0.836:0.738:0.623 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ERF HGNC ENSG00000105722 117 0 0 117 13 10 SCAF1 0 genome.wustl.edu 37 19 50155694 50155694 + Frame_Shift_Del DEL G G - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 50155694 50155694 G - DEL SCAF1 ENST00000360565 human ensembl 74_37 +1 known frame_shift_del c.2048 p.A685fs 0.997 NULL NULL - no_errors SCAF1 HGNC ENSG00000126461 17 0 0 20 10 33.3333 MED25 0 genome.wustl.edu 37 19 50333113 50333113 + Frame_Shift_Del DEL C C - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 50333113 50333113 C - DEL MED25 ENST00000312865 human ensembl 74_37 +1 known frame_shift_del c.596 p.P201fs 0.380 pfam_Mediator_Med25_VWA pfam_Mediator_Med25_VWA,pfam_Mediator_Med25,pfam_Mediator_Med25_SD1,pfam_Mediator_Med25_NR-box - no_errors MED25 HGNC ENSG00000104973 13 0 0 6 3 33.3333 LILRA4 0 genome.wustl.edu 37 19 54844919 54844919 + Frame_Shift_Del DEL G G - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 19 54844919 54844919 G - DEL LILRA4 ENST00000291759 human ensembl 74_37 -1 known frame_shift_del c.1424 p.P475fs 0.004 pirsf_A1B_glyco/leuk_Ig-like_rcpt smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRA4 HGNC ENSG00000239961 58 0 0 42 11 20.7547 ACVR2A 0 genome.wustl.edu 37 2 148683686 148683686 + Frame_Shift_Del DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 148683686 148683686 A - DEL ACVR2A ENST00000241416 human ensembl 74_37 +1 known frame_shift_del c.1303 p.K437fs 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors ACVR2A HGNC ENSG00000121989 76 0 0 25 15 37.5 EPC2 0 genome.wustl.edu 37 2 149542571 149542572 + Splice_Site DEL GT GT - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 149542571 149542572 GT - DEL EPC2 ENST00000258484 human ensembl 74_37 +1 known splice_site_del c.2351+1_2351+1 e13+1 1.000:1.000 - - - no_errors EPC2 HGNC ENSG00000135999 10 0 0 2 2 50 RIF1 0 genome.wustl.edu 37 2 152293790 152293790 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 152293790 152293790 T - DEL RIF1 ENST00000243326 human ensembl 74_37 +1 known frame_shift_del c.1408 p.S472fs 1.000 NULL pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC ENSG00000080345 158 0 0 88 13 12.8713 RAD51AP2 0 genome.wustl.edu 37 2 17698737 17698737 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 17698737 17698737 T - DEL RAD51AP2 ENST00000399080 human ensembl 74_37 -1 known frame_shift_del c.946 p.T316fs 0.003 NULL NULL - no_errors RAD51AP2 HGNC ENSG00000214842 37 0 0 13 5 27.7778 MFSD6 0 genome.wustl.edu 37 2 191302246 191302246 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 191302246 191302246 T - DEL MFSD6 ENST00000281416 human ensembl 74_37 +1 known frame_shift_del c.1491 p.F499fs 0.999 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD6 HGNC ENSG00000151690 165 0 0 75 28 27.1845 ZNF142 0 genome.wustl.edu 37 2 219508084 219508084 + Frame_Shift_Del DEL C C - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 219508084 219508084 C - DEL ZNF142 ENST00000411696 human ensembl 74_37 -1 known frame_shift_del c.3155 p.G1052fs 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF142 HGNC ENSG00000115568 70 0 0 50 15 23.0769 SPEG 0 genome.wustl.edu 37 2 220333657 220333657 + Frame_Shift_Del DEL G G - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 220333657 220333657 G - DEL SPEG ENST00000312358 human ensembl 74_37 +1 novel frame_shift_del c.3378 p.G1127fs 0.993 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors SPEG HGNC ENSG00000072195 38 0 0 49 13 20.9677 IRS1 0 genome.wustl.edu 37 2 227662789 227662791 + In_Frame_Del DEL GAA GAA - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 227662789 227662791 GAA - DEL IRS1 ENST00000305123 human ensembl 74_37 -1 known in_frame_del c.666_664 p.F222in_frame_del 1.000:1.000:1.000 pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors IRS1 HGNC ENSG00000169047 145 0 0 100 34 25.3731 UGT1A10 0 genome.wustl.edu 37 2 234545526 234545526 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 234545526 234545526 T - DEL UGT1A10 ENST00000344644 human ensembl 74_37 +1 known frame_shift_del c.358 p.S122fs 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A10 HGNC ENSG00000242515 122 0 0 37 8 17.7778 CIB4 0 genome.wustl.edu 37 2 26818155 26818156 + Frame_Shift_Del DEL CT CT - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 26818155 26818156 CT - DEL CIB4 ENST00000288861 human ensembl 74_37 -1 known frame_shift_del c.217_216 p.R72fs 0.994:0.590 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CIB4 HGNC ENSG00000157884 61 0 0 36 7 16.2791 AGBL5 0 genome.wustl.edu 37 2 27278900 27278901 + Frame_Shift_Ins INS - - C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 27278900 27278901 - C INS AGBL5 ENST00000360131 human ensembl 74_37 +1 known frame_shift_ins c.1259_1260 p.K423fs 1.000:1.000 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC ENSG00000084693 252 1 0.395257 162 50 23.5849 WBP1 0 genome.wustl.edu 37 2 74687409 74687410 + Frame_Shift_Ins INS - - C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 2 74687409 74687410 - C INS WBP1 ENST00000233615 human ensembl 74_37 +1 known frame_shift_ins c.411_412 p.Y140fs 0.119:0.993 pfam_Uncharacterised_WW-bd pfam_Uncharacterised_WW-bd - no_errors WBP1 HGNC ENSG00000239779 281 0 0 173 43 19.9074 CCM2L 0 genome.wustl.edu 37 20 30602812 30602812 + Frame_Shift_Del DEL C C - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 20 30602812 30602812 C - DEL CCM2L ENST00000300415 human ensembl 74_37 +1 known frame_shift_del c.136 p.D48fs 1.000 NULL NULL - no_errors CCM2L HGNC ENSG00000101331 126 0 0 120 37 23.5669 NRSN2 0 genome.wustl.edu 37 20 333923 333923 + Frame_Shift_Del DEL C C - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 20 333923 333923 C - DEL NRSN2 ENST00000382285 human ensembl 74_37 +1 known frame_shift_del c.259 p.K89fs 0.999 NULL NULL - no_errors NRSN2 HGNC ENSG00000125841 121 0 0 150 10 6.25 MYH7B 0 genome.wustl.edu 37 20 33582061 33582063 + In_Frame_Del DEL GAG GAG - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 20 33582061 33582063 GAG - DEL MYH7B ENST00000262873 human ensembl 74_37 +1 novel in_frame_del c.2683_2685 p.E897in_frame_del 1.000:1.000:1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7B HGNC ENSG00000078814 90 0 0 139 9 6.08108 GTSF1L 0 genome.wustl.edu 37 20 42354972 42354972 + Frame_Shift_Del DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 20 42354972 42354972 A - DEL GTSF1L ENST00000373003 human ensembl 74_37 -1 known frame_shift_del c.363 p.P122fs 0.667 NULL pfam_TRM13/UPF0224_CHHC_Znf_dom - no_errors GTSF1L HGNC ENSG00000124196 52 0 0 33 11 25 TSHZ2 0 genome.wustl.edu 37 20 51872444 51872445 + Frame_Shift_Ins INS - - C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 20 51872444 51872445 - C INS TSHZ2 ENST00000371497 human ensembl 74_37 +1 known frame_shift_ins c.2447_2448 p.M819fs 1.000:1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ2 HGNC ENSG00000182463 77 0 0 77 23 23 ZDHHC8 0 genome.wustl.edu 37 22 20130522 20130522 + Frame_Shift_Del DEL C C - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 22 20130522 20130522 C - DEL ZDHHC8 ENST00000405930 human ensembl 74_37 +1 known frame_shift_del c.1369 p.T459fs 0.997 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC8 HGNC ENSG00000099904 40 0 0 35 10 22.2222 C22orf24 0 genome.wustl.edu 37 22 32334105 32334105 + Frame_Shift_Del DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 22 32334105 32334105 A - DEL C22orf24 ENST00000543051 human ensembl 74_37 -1 known frame_shift_del c.149 p.F50fs 0.000 NULL NULL - no_errors C22orf24 HGNC ENSG00000128254 121 0 0 53 13 19.697 SH3BP1 0 genome.wustl.edu 37 22 38051313 38051314 + Frame_Shift_Ins INS - - C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 22 38051313 38051314 - C INS SH3BP1 ENST00000357436 human ensembl 74_37 +1 known frame_shift_ins c.1728_1729 p.Q578fs 0.733:0.981 NULL pfam_RhoGAP_dom,pfam_BAR_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors SH3BP1 HGNC ENSG00000100092 19 0 0 34 6 15 ATF4 0 genome.wustl.edu 37 22 39917950 39917951 + Frame_Shift_Ins INS - - C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 22 39917950 39917951 - C INS ATF4 ENST00000337304 human ensembl 74_37 +1 known frame_shift_ins c.399_400 p.Q135fs 0.452:0.485 NULL pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors ATF4 HGNC ENSG00000128272 371 1 0.268817 240 41 14.5907 SREBF2 0 genome.wustl.edu 37 22 42289201 42289201 + Frame_Shift_Del DEL C C - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 22 42289201 42289201 C - DEL SREBF2 ENST00000361204 human ensembl 74_37 +1 known frame_shift_del c.2289 p.L765fs 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors SREBF2 HGNC ENSG00000198911 86 0 0 54 13 19.403 TRPC1 0 genome.wustl.edu 37 3 142443442 142443444 + In_Frame_Del DEL CCT CCT - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 3 142443442 142443444 CCT - DEL TRPC1 ENST00000476941 human ensembl 74_37 +1 known in_frame_del c.41_43 p.S18in_frame_del 0.999:0.998:1.000 NULL pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC1 HGNC ENSG00000144935 11 0 0 8 2 20 DHX36 0 genome.wustl.edu 37 3 154032978 154032978 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 3 154032978 154032978 T - DEL DHX36 ENST00000496811 human ensembl 74_37 -1 known frame_shift_del c.460 p.M154fs 0.000 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX36 HGNC ENSG00000174953 37 0 0 16 5 23.8095 TTC14 0 genome.wustl.edu 37 3 180323592 180323593 + Frame_Shift_Ins INS - - A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 3 180323592 180323593 - A INS TTC14 ENST00000296015 human ensembl 74_37 +1 known frame_shift_ins c.896_897 p.Q302fs 1.000:1.000 NULL pfam_TPR_1,superfamily_NA-bd_OB-fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors TTC14 HGNC ENSG00000163728 104 0 0 21 6 22.2222 HTR3D 0 genome.wustl.edu 37 3 183756182 183756182 + Frame_Shift_Del DEL C C - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 3 183756182 183756182 C - DEL HTR3D ENST00000382489 human ensembl 74_37 +1 known frame_shift_del c.905 p.L304fs 0.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd - no_errors HTR3D HGNC ENSG00000186090 74 0 0 50 28 35.8974 TNK2 0 genome.wustl.edu 37 3 195595228 195595229 + Frame_Shift_Ins INS - - G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 3 195595228 195595229 - G INS TNK2 ENST00000381916 human ensembl 74_37 -1 known frame_shift_ins c.2130_2129 p.P711fs 0.449:0.994 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cdc42_binding_dom_like,pfam_Inhibitor_Mig-6,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors TNK2 HGNC ENSG00000061938 117 0 0 139 33 19.186 TRAK1 0 genome.wustl.edu 37 3 42242450 42242450 + Frame_Shift_Del DEL C C - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 3 42242450 42242450 C - DEL TRAK1 ENST00000396175 human ensembl 74_37 +1 known frame_shift_del c.1157 p.R388fs 1.000 pfam_Traffickng_kinesin-bd_prot_dom pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK1 HGNC ENSG00000182606 239 0 0 213 31 12.7049 KLHDC8B 0 genome.wustl.edu 37 3 49212566 49212566 + Frame_Shift_Del DEL G G - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 3 49212566 49212566 G - DEL KLHDC8B ENST00000332780 human ensembl 74_37 +1 known frame_shift_del c.838 p.G281fs 1.000 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC8B HGNC ENSG00000185909 34 0 0 28 9 24.3243 FLNB 0 genome.wustl.edu 37 3 58118574 58118575 + Frame_Shift_Ins INS - - CA TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 3 58118574 58118575 - CA INS FLNB ENST00000295956 human ensembl 74_37 +1 known frame_shift_ins c.4430_4431 p.T1481fs 1.000:1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC ENSG00000136068 67 0 0 41 7 14.5833 FEZF2 0 genome.wustl.edu 37 3 62357222 62357222 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 3 62357222 62357222 T - DEL FEZF2 ENST00000283268 human ensembl 74_37 -1 known frame_shift_del c.973 p.I325fs 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors FEZF2 HGNC ENSG00000153266 56 0 0 35 9 20.4545 PLK4 0 genome.wustl.edu 37 4 128807221 128807221 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 4 128807221 128807221 T - DEL PLK4 ENST00000270861 human ensembl 74_37 +1 known frame_shift_del c.696 p.L234fs 0.311 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom - no_errors PLK4 HGNC ENSG00000142731 185 0 0 81 20 19.802 DDX60 0 genome.wustl.edu 37 4 169173785 169173785 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 4 169173785 169173785 T - DEL DDX60 ENST00000393743 human ensembl 74_37 -1 known frame_shift_del c.3580 p.T1194fs 0.000 superfamily_P-loop_NTPase pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60 HGNC ENSG00000137628 140 0 0 79 18 18.5567 SEL1L3 0 genome.wustl.edu 37 4 25849258 25849258 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 4 25849258 25849258 T - DEL SEL1L3 ENST00000399878 human ensembl 74_37 -1 known frame_shift_del c.391 p.R131fs 0.063 NULL pfam_Sel1-like,superfamily_ConA-like_lec_gl_sf,smart_Sel1-like - no_errors SEL1L3 HGNC ENSG00000091490 64 0 0 19 11 36.6667 STAP1 0 genome.wustl.edu 37 4 68447135 68447135 + Frame_Shift_Del DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 4 68447135 68447135 A - DEL STAP1 ENST00000265404 human ensembl 74_37 +1 known frame_shift_del c.476 p.E161fs 0.010 NULL pfam_SH2,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_SH2 - no_errors STAP1 HGNC ENSG00000035720 169 0 0 91 24 20.8696 AGPAT9 0 genome.wustl.edu 37 4 84511411 84511411 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 4 84511411 84511411 T - DEL AGPAT9 ENST00000264409 human ensembl 74_37 +1 known frame_shift_del c.704 p.L236fs 0.994 pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors AGPAT9 HGNC ENSG00000138678 71 0 0 61 8 11.5942 ARHGAP24 0 genome.wustl.edu 37 4 86916560 86916560 + Frame_Shift_Del DEL G G - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 4 86916560 86916560 G - DEL ARHGAP24 ENST00000395184 human ensembl 74_37 +1 known frame_shift_del c.1753 p.N587fs 0.945 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP24 HGNC ENSG00000138639 102 0 0 63 22 25.8824 MMRN1 0 genome.wustl.edu 37 4 90857472 90857472 + Frame_Shift_Del DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 4 90857472 90857472 A - DEL MMRN1 ENST00000264790 human ensembl 74_37 +1 known frame_shift_del c.2641 p.G883fs 0.987 NULL pfam_C1q,pfam_EMI_domain,pfam_EG-like_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MMRN1 HGNC ENSG00000138722 23 0 0 11 4 26.6667 STPG2 0 genome.wustl.edu 37 4 99027105 99027105 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 4 99027105 99027105 T - DEL STPG2 ENST00000295268 human ensembl 74_37 -1 known frame_shift_del c.611 p.K204fs 1.000 NULL NULL - no_errors STPG2 HGNC ENSG00000163116 10 0 0 7 2 22.2222 CDC25C 0 genome.wustl.edu 37 5 137622195 137622195 + Frame_Shift_Del DEL C C - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 5 137622195 137622195 C - DEL CDC25C ENST00000323760 human ensembl 74_37 -1 known frame_shift_del c.1151 p.G384fs 1.000 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase - no_errors CDC25C HGNC ENSG00000158402 128 0 0 75 20 21.0526 TAF7 0 genome.wustl.edu 37 5 140699362 140699362 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 5 140699362 140699362 T - DEL TAF7 ENST00000313368 human ensembl 74_37 -1 known frame_shift_del c.250 p.T84fs 1.000 pfam_TAFII55_prot_cons_reg pfam_TAFII55_prot_cons_reg - no_errors TAF7 HGNC ENSG00000178913 52 0 0 22 8 26.6667 TCERG1 0 genome.wustl.edu 37 5 145886723 145886723 + Frame_Shift_Del DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 5 145886723 145886723 A - DEL TCERG1 ENST00000296702 human ensembl 74_37 +1 known frame_shift_del c.2863 p.K957fs 1.000 pfam_FF_domain,superfamily_FF_domain,smart_FF_domain pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors TCERG1 HGNC ENSG00000113649 94 0 0 42 12 22.2222 SPINK5 0 genome.wustl.edu 37 5 147465986 147465986 + Frame_Shift_Del DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 5 147465986 147465986 A - DEL SPINK5 ENST00000359874 human ensembl 74_37 +1 known frame_shift_del c.301 p.G103fs 0.140 pfam_Kazal_dom,smart_Kazal_dom pfam_Kazal_dom,smart_Kazal_dom - no_errors SPINK5 HGNC ENSG00000133710 110 0 0 33 8 19.5122 RGS14 0 genome.wustl.edu 37 5 176794793 176794793 + Frame_Shift_Del DEL G G - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 5 176794793 176794793 G - DEL RGS14 ENST00000408923 human ensembl 74_37 +1 known frame_shift_del c.706 p.G237fs 0.042 NULL pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS14 HGNC ENSG00000169220 30 0 0 36 7 16.2791 CNOT6 0 genome.wustl.edu 37 5 179992921 179992921 + Frame_Shift_Del DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 5 179992921 179992921 A - DEL CNOT6 ENST00000261951 human ensembl 74_37 +1 known frame_shift_del c.661 p.K222fs 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,pfam_Leu-rich_rpt,superfamily_Endo/exonuclease/phosphatase,smart_Leu-rich_rpt_typical-subtyp - no_errors CNOT6 HGNC ENSG00000113300 74 0 0 39 9 18.75 KIAA0947 0 genome.wustl.edu 37 5 5462753 5462753 + Frame_Shift_Del DEL G G - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 5 5462753 5462753 G - DEL KIAA0947 ENST00000296564 human ensembl 74_37 +1 known frame_shift_del c.3306 p.G1104fs 0.004 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 28 0 0 24 4 14.2857 IL6ST 0 genome.wustl.edu 37 5 55247869 55247869 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 5 55247869 55247869 T - DEL IL6ST ENST00000336909 human ensembl 74_37 -1 known frame_shift_del c.1587 p.V530fs 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL6ST HGNC ENSG00000134352 65 0 0 25 10 28.5714 ERBB2IP 0 genome.wustl.edu 37 5 65320241 65320243 + In_Frame_Del DEL ATC ATC - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 ATC ATC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 5 65320241 65320243 ATC - DEL ERBB2IP ENST00000284037 human ensembl 74_37 +1 known in_frame_del c.780_782 p.S262in_frame_del 1.000:1.000:1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors ERBB2IP HGNC ENSG00000112851 97 0 0 28 10 26.3158 BDP1 0 genome.wustl.edu 37 5 70791221 70791221 + Frame_Shift_Del DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 5 70791221 70791221 A - DEL BDP1 ENST00000358731 human ensembl 74_37 +1 known frame_shift_del c.1785 p.N597fs 0.003 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 103 0 0 30 8 21.0526 VCAN 0 genome.wustl.edu 37 5 82816273 82816275 + In_Frame_Del DEL AGA AGA - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 5 82816273 82816275 AGA - DEL VCAN ENST00000265077 human ensembl 74_37 +1 known in_frame_del c.2148_2150 p.E719in_frame_del 0.132:0.537:0.673 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 37 0 0 11 4 26.6667 AKAP7 0 genome.wustl.edu 37 6 131481276 131481276 + Frame_Shift_Del DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 6 131481276 131481276 A - DEL AKAP7 ENST00000368123 human ensembl 74_37 +1 known frame_shift_del c.163 p.K57fs 0.449 pfam_Kinase-A_anchor_nucl_local_sig pfam_Kinase-A_anchor_nucl_local_sig,pfam_Kinase-A_anchor_RI-RII-bd_dom,superfamily_RNA_ligase/cNuc_Pdiesterase - no_errors AKAP7 HGNC ENSG00000118507 62 0 0 19 7 26.9231 HECA 0 genome.wustl.edu 37 6 139488147 139488147 + Frame_Shift_Del DEL G G - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 6 139488147 139488147 G - DEL HECA ENST00000367658 human ensembl 74_37 +1 known frame_shift_del c.998 p.G335fs 1.000 superfamily_Glycoside_hydrolase_SF superfamily_Glycoside_hydrolase_SF - no_errors HECA HGNC ENSG00000112406 143 0 0 91 15 14.1509 LATS1 0 genome.wustl.edu 37 6 150005576 150005579 + Frame_Shift_Del DEL CAGA CAGA - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 CAGA CAGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 6 150005576 150005579 CAGA - DEL LATS1 ENST00000253339 human ensembl 74_37 -1 known frame_shift_del c.649_646 p.S216fs 1.000:1.000:1.000:1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/Ts_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors LATS1 HGNC ENSG00000131023 55 0 0 33 9 21.4286 AKAP12 0 genome.wustl.edu 37 6 151673902 151673902 + Frame_Shift_Del DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 6 151673902 151673902 A - DEL AKAP12 ENST00000253332 human ensembl 74_37 +1 known frame_shift_del c.4376 p.N1461fs 0.000 NULL pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1 - no_errors AKAP12 HGNC ENSG00000131016 50 0 0 36 7 16.2791 SYNJ2 0 genome.wustl.edu 37 6 158508009 158508009 + Frame_Shift_Del DEL C C - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 6 158508009 158508009 C - DEL SYNJ2 ENST00000355585 human ensembl 74_37 +1 known frame_shift_del c.3331 p.P1113fs 1.000 NULL pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ2 HGNC ENSG00000078269 101 0 0 75 12 13.7931 RBM24 0 genome.wustl.edu 37 6 17292449 17292449 + RNA DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 6 17292449 17292449 A - DEL RBM24 ENST00000508508 human ensembl 74_37 +1 known rna NULL NULL 0.915 - - - no_errors RBM24 HGNC ENSG00000112183 17 0 0 15 4 21.0526 DEK 0 genome.wustl.edu 37 6 18237613 18237613 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 6 18237613 18237613 T - DEL DEK ENST00000397239 human ensembl 74_37 -1 known frame_shift_del c.897 p.E300fs 1.000 NULL pfam_DEK_C,pfam_SAP_dom,smart_SAP_dom - no_errors DEK HGNC ENSG00000124795 46 0 0 19 6 24 TMEM14A 0 genome.wustl.edu 37 6 52546638 52546638 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 6 52546638 52546638 T - DEL TMEM14A ENST00000211314 human ensembl 74_37 +1 known frame_shift_del c.98 p.F34fs 0.998 pfam_UPF0136_TM pfam_UPF0136_TM - no_errors TMEM14A HGNC ENSG00000096092 95 0 0 51 9 15 KLHL31 0 genome.wustl.edu 37 6 53516564 53516566 + In_Frame_Del DEL CTT CTT - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 6 53516564 53516566 CTT - DEL KLHL31 ENST00000370905 human ensembl 74_37 -1 known in_frame_del c.1737_1735 p.K579in_frame_del 1.000:1.000:1.000 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_DUF1668_ORYSA,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL31 HGNC ENSG00000124743 62 0 0 52 7 11.8644 ZNF292 0 genome.wustl.edu 37 6 87970954 87970954 + Frame_Shift_Del DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 6 87970954 87970954 A - DEL ZNF292 ENST00000369577 human ensembl 74_37 +1 known frame_shift_del c.7607 p.N2538fs 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 26 0 0 8 4 33.3333 MANEA 0 genome.wustl.edu 37 6 96034869 96034870 + Frame_Shift_Ins INS - - TA TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 6 96034869 96034870 - TA INS MANEA ENST00000369293 human ensembl 74_37 +1 known frame_shift_ins c.554_555 p.I189fs 0.020:0.026 NULL NULL - no_errors MANEA HGNC ENSG00000172469 48 0 0 13 4 23.5294 NAPEPLD 0 genome.wustl.edu 37 7 102760123 102760123 + Frame_Shift_Del DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 7 102760123 102760123 A - DEL NAPEPLD ENST00000455523 human ensembl 74_37 -1 known frame_shift_del c.1061 p.F354fs 1.000 NULL NULL - no_errors NAPEPLD HGNC ENSG00000161048 84 0 0 57 18 24 UBN2 0 genome.wustl.edu 37 7 138967781 138967781 + Frame_Shift_Del DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 7 138967781 138967781 A - DEL UBN2 ENST00000473989 human ensembl 74_37 +1 known frame_shift_del c.2130 p.K712fs 0.995 NULL NULL - no_errors UBN2 HGNC ENSG00000157741 20 0 0 16 7 30.4348 KMT2C 0 genome.wustl.edu 37 7 151874148 151874148 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 7 151874148 151874148 T - DEL KMT2C ENST00000355193 human ensembl 74_37 -1 known frame_shift_del c.8390 p.K2797fs 0.019 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 51 0 0 25 13 34.2105 MAGI2 0 genome.wustl.edu 37 7 79082533 79082533 + Frame_Shift_Del DEL C C - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 7 79082533 79082533 C - DEL MAGI2 ENST00000354212 human ensembl 74_37 -1 known frame_shift_del c.104 p.G35fs 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI2 HGNC ENSG00000187391 188 0 0 161 31 16.1458 SAMD9L 0 genome.wustl.edu 37 7 92760738 92760738 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 7 92760738 92760738 T - DEL SAMD9L ENST00000318238 human ensembl 74_37 -1 known frame_shift_del c.4547 p.N1516fs 0.000 NULL superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM - no_errors SAMD9L HGNC ENSG00000177409 71 0 0 36 10 21.7391 VPS13B 0 genome.wustl.edu 37 8 100050671 100050671 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 8 100050671 100050671 T - DEL VPS13B ENST00000358544 human ensembl 74_37 +1 known frame_shift_del c.168 p.L58fs 0.024 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 48 0 0 15 8 34.7826 POU5F1B 0 genome.wustl.edu 37 8 128428462 128428462 + Frame_Shift_Del DEL C C - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 8 128428462 128428462 C - DEL POU5F1B ENST00000391675 human ensembl 74_37 +1 known frame_shift_del c.351 p.P119fs 0.000 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU5F1B HGNC ENSG00000212993 36 0 0 25 9 26.4706 TG 0 genome.wustl.edu 37 8 134145764 134145764 + Frame_Shift_Del DEL C C - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 8 134145764 134145764 C - DEL TG ENST00000220616 human ensembl 74_37 +1 known frame_shift_del c.8048 p.W2685fs 0.002 pfam_CarbesteraseB,pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 154 0 0 87 26 23.0088 BMP1 0 genome.wustl.edu 37 8 22067038 22067038 + Frame_Shift_Del DEL G G - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 8 22067038 22067038 G - DEL BMP1 ENST00000306385 human ensembl 74_37 +1 known frame_shift_del c.2656 p.G887fs 0.884 pirsf_BMP_1/tolloid-like,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pirsf_BMP_1/tolloid-like,pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,prints_Peptidase_M12A,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors BMP1 HGNC ENSG00000168487 206 0 0 178 52 22.6087 ADRA1A 0 genome.wustl.edu 37 8 26722168 26722168 + Frame_Shift_Del DEL C C - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 8 26722168 26722168 C - DEL ADRA1A ENST00000380586 human ensembl 74_37 -1 known frame_shift_del c.319 p.V107fs 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA1A_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRA1A HGNC ENSG00000120907 77 0 0 53 21 28.3784 NKX6-3 0 genome.wustl.edu 37 8 41504815 41504815 + Frame_Shift_Del DEL G G - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 8 41504815 41504815 G - DEL NKX6-3 ENST00000524115 human ensembl 74_37 -1 known frame_shift_del c.60 p.E21fs 0.000 NULL superfamily_Homeodomain-like - no_errors NKX6-3 HGNC ENSG00000165066 8 0 0 14 5 26.3158 ESRP1 0 genome.wustl.edu 37 8 95686611 95686611 + Frame_Shift_Del DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 8 95686611 95686611 A - DEL ESRP1 ENST00000433389 human ensembl 74_37 +1 known frame_shift_del c.1528 p.N512fs 1.000 smart_RRM_dom superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ESRP1 HGNC ENSG00000104413 64 0 0 45 13 22.4138 RABGAP1 0 genome.wustl.edu 37 9 125759597 125759597 + Frame_Shift_Del DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 125759597 125759597 A - DEL RABGAP1 ENST00000373647 human ensembl 74_37 +1 known frame_shift_del c.1161 p.K388fs 0.998 pfam_Kinesin-like pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1 HGNC ENSG00000011454 37 0 0 24 6 20 GARNL3 0 genome.wustl.edu 37 9 130027147 130027148 + RNA INS - - T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 130027147 130027148 - T INS GARNL3 ENST00000487565 human ensembl 74_37 +1 known rna NULL NULL 0.989:0.992 - - - no_errors GARNL3 HGNC ENSG00000136895 19 0 0 15 11 42.3077 RPL12 0 genome.wustl.edu 37 9 130210017 130210017 + RNA DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 130210017 130210017 A - DEL RPL12 ENST00000497322 human ensembl 74_37 -1 known rna NULL NULL 0.010 - - - no_errors RPL12 HGNC ENSG00000197958 153 1 0.649351 83 29 25.8929 CRAT 0 genome.wustl.edu 37 9 131864814 131864814 + Frame_Shift_Del DEL C C - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 131864814 131864814 C - DEL CRAT ENST00000318080 human ensembl 74_37 -1 known frame_shift_del c.495 p.K166fs 0.127 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CRAT HGNC ENSG00000095321 588 1 0.169779 474 74 13.5036 CEL 0 genome.wustl.edu 37 9 135946987 135946988 + Frame_Shift_Ins INS - - C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 135946987 135946988 - C INS CEL ENST00000372080 human ensembl 74_37 +1 known frame_shift_ins c.2107_2108 p.V706fs 0.038:0.002 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CEL HGNC ENSG00000170835 11 0 0 12 3 20 PTGDS 0 genome.wustl.edu 37 9 139874595 139874595 + RNA DEL C C - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 139874595 139874595 C - DEL PTGDS ENST00000462514 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PTGDS HGNC ENSG00000107317 30 0 0 34 9 20.9302 NPDC1 0 genome.wustl.edu 37 9 139934525 139934526 + RNA INS - - G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 139934525 139934526 - G INS NPDC1 ENST00000472668 human ensembl 74_37 -1 known rna NULL NULL 0.002:0.005 - - - no_errors NPDC1 HGNC ENSG00000107281 11 0 0 23 6 20.6897 PSIP1 0 genome.wustl.edu 37 9 15472612 15472613 + RNA DEL AA AA - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 15472612 15472613 AA - DEL PSIP1 ENST00000495873 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.000 - - - no_errors PSIP1 HGNC ENSG00000164985 42 0 0 11 10 47.619 CNTLN 0 genome.wustl.edu 37 9 17484353 17484353 + Frame_Shift_Del DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 17484353 17484353 A - DEL CNTLN ENST00000380647 human ensembl 74_37 +1 known frame_shift_del c.3916 p.M1308fs 0.999 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 96 0 0 38 11 22.449 CDKN2A 0 genome.wustl.edu 37 9 21974720 21974721 + Frame_Shift_Ins INS - - C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 21974720 21974721 - C INS CDKN2A ENST00000446177 human ensembl 74_37 -1 known frame_shift_ins c.107_106 p.A36fs 0.140:0.976 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors CDKN2A HGNC ENSG00000147889 106 0 0 90 57 38.7755 ZCCHC7 0 genome.wustl.edu 37 9 37357249 37357250 + Frame_Shift_Ins INS - - A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 37357249 37357250 - A INS ZCCHC7 ENST00000336755 human ensembl 74_37 +1 known frame_shift_ins c.1616_1617 p.K543fs 1.000:1.000 NULL pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC7 HGNC ENSG00000147905 35 0 0 18 2 10 DOCK8 0 genome.wustl.edu 37 9 405015 405015 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 405015 405015 T - DEL DOCK8 ENST00000453981 human ensembl 74_37 +1 known frame_shift_del c.3332 p.F1113fs 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK8 HGNC ENSG00000107099 41 0 0 17 7 29.1667 TLE4 0 genome.wustl.edu 37 9 82267585 82267586 + Frame_Shift_Ins INS - - C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 9 82267585 82267586 - C INS TLE4 ENST00000376520 human ensembl 74_37 +1 known frame_shift_ins c.468_469 p.A158fs 1.000:1.000 NULL pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE4 HGNC ENSG00000106829 185 0 0 133 23 14.7436 FRMPD3 0 genome.wustl.edu 37 X 106845403 106845403 + Frame_Shift_Del DEL G G - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 106845403 106845403 G - DEL FRMPD3 ENST00000276185 human ensembl 74_37 +1 known frame_shift_del c.4233 p.G1413fs 0.338 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD3 HGNC ENSG00000147234 131 0 0 107 14 11.5702 MSL3 0 genome.wustl.edu 37 X 11790306 11790307 + Frame_Shift_Ins INS - - C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 11790306 11790307 - C INS MSL3 ENST00000312196 human ensembl 74_37 +1 known frame_shift_ins c.1313_1314 p.G441fs 1.000:0.970 pfam_MRG_dom pfam_MRG_dom,pfam_Tudor-knot,superfamily_Chromodomain-like,smart_Chromo_domain/shadow - no_errors MSL3 HGNC ENSG00000005302 337 0 0 211 34 13.8776 BCORL1 0 genome.wustl.edu 37 X 129149422 129149422 + Frame_Shift_Del DEL G G - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 129149422 129149422 G - DEL BCORL1 ENST00000303743 human ensembl 74_37 +1 known frame_shift_del c.2674 p.G893fs 0.935 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC ENSG00000085185 57 0 0 39 12 23.5294 ATXN3L 0 genome.wustl.edu 37 X 13337421 13337421 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 13337421 13337421 T - DEL ATXN3L ENST00000380622 human ensembl 74_37 -1 known frame_shift_del c.633 p.V212fs 0.003 prints_Josephin pfam_Josephin,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,prints_Josephin,pfscan_Josephin,pfscan_Ubiquitin-int_motif - no_errors ATXN3L HGNC ENSG00000123594 272 0 0 111 6 5.12821 F9 0 genome.wustl.edu 37 X 138643719 138643719 + Frame_Shift_Del DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 138643719 138643719 A - DEL F9 ENST00000218099 human ensembl 74_37 +1 known frame_shift_del c.875 p.K293fs 0.997 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_FX,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Peptidase_S1,pirsf_Pept_S1A_FX,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_GLA_domain - no_errors F9 HGNC ENSG00000101981 121 0 0 58 7 10.7692 PRRG3 0 genome.wustl.edu 37 X 150868590 150868592 + In_Frame_Del DEL GAG GAG - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 150868590 150868592 GAG - DEL PRRG3 ENST00000370353 human ensembl 74_37 +1 known in_frame_del c.130_132 p.E45in_frame_del 1.000:1.000:1.000 pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain - no_errors PRRG3 HGNC ENSG00000130032 114 0 0 67 10 12.987 MXRA5 0 genome.wustl.edu 37 X 3227803 3227803 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 3227803 3227803 T - DEL MXRA5 ENST00000217939 human ensembl 74_37 -1 known frame_shift_del c.8441 p.N2814fs 0.947 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,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_dom - no_errors MXRA5 HGNC ENSG00000101825 57 0 0 14 7 33.3333 LANCL3 0 genome.wustl.edu 37 X 37515027 37515027 + Frame_Shift_Del DEL C C - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 37515027 37515027 C - DEL LANCL3 ENST00000378619 human ensembl 74_37 +1 known frame_shift_del c.660 p.L222fs 0.948 pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LanC-like_prot_euk pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LANC-like,prints_LanC-like_prot_euk - no_errors LANCL3 HGNC ENSG00000147036 87 0 0 40 15 27.2727 BCOR 0 genome.wustl.edu 37 X 39937164 39937164 + Frame_Shift_Del DEL G G - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 39937164 39937164 G - DEL BCOR ENST00000378444 human ensembl 74_37 -1 known frame_shift_del c.19 p.L7fs 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC ENSG00000183337 132 0 0 130 20 13.3333 TSPYL2 0 genome.wustl.edu 37 X 53111923 53111923 + Frame_Shift_Del DEL G G - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 53111923 53111923 G - DEL TSPYL2 ENST00000375442 human ensembl 74_37 +1 known frame_shift_del c.243 p.I84fs 0.998 NULL pfam_NAP_family - no_errors TSPYL2 HGNC ENSG00000184205 11 0 0 13 4 23.5294 IL2RG 0 genome.wustl.edu 37 X 70327614 70327614 + Frame_Shift_Del DEL G G - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 70327614 70327614 G - DEL IL2RG ENST00000374202 human ensembl 74_37 -1 known frame_shift_del c.1082 p.P361fs 0.874 NULL pfam_IL-6_rcpt_alpha-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL2RG HGNC ENSG00000147168 22 0 0 20 6 23.0769 TAF1 0 genome.wustl.edu 37 X 70597472 70597472 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 70597472 70597472 T - DEL TAF1 ENST00000449580 human ensembl 74_37 +1 known frame_shift_del c.731 p.F245fs 1.000 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1 HGNC ENSG00000147133 53 0 0 47 7 12.963 XIST 0 genome.wustl.edu 37 X 73071762 73071762 + RNA DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 X 73071762 73071762 A - DEL XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.649 - - - no_errors XIST HGNC ENSG00000229807 108 0 0 72 16 18.1818