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 ADAMTS14 0 genome.wustl.edu 37 10 72520524 72520524 + Missense_Mutation SNP C C T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 10 72520524 72520524 C T SNP ADAMTS14 ENST00000373208 human ensembl 74_37 +1 known missense c.3596 p.T1199M 0.000 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS14 HGNC ENSG00000138316 tier1 - - 84 0 0.00 28 39 58.21 AMER1 0 genome.wustl.edu 37 X 63411781 63411781 + Silent SNP T T C TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 X 63411781 63411781 T C SNP AMER1 ENST00000330258 human ensembl 74_37 -1 known silent c.1386 p.E462 0.994 pfam_Uncharacterised_FAM123 pfam_Uncharacterised_FAM123 - no_errors AMER1 HGNC ENSG00000184675 tier1 - - 36 0 0.00 24 4 14.29 ANKRD20A4 0 genome.wustl.edu 37 9 69390020 69390020 + Missense_Mutation SNP T T A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 9 69390020 69390020 T A SNP ANKRD20A4 ENST00000357336 human ensembl 74_37 +1 known missense c.574 p.S192T 0.002 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD20A4 HGNC ENSG00000172014 tier1 rs200769647 - 13 0 0.00 6 5 45.45 ARHGAP44 0 genome.wustl.edu 37 17 12893352 12893352 + Missense_Mutation SNP T T C TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 17 12893352 12893352 T C SNP ARHGAP44 ENST00000379672 human ensembl 74_37 +1 known missense c.2321 p.L774P 0.920 NULL pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors ARHGAP44 HGNC ENSG00000006740 tier1 - - 132 0 0.00 39 27 40.91 ATG14 0 genome.wustl.edu 37 14 55852660 55852660 + Missense_Mutation SNP C C G TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 14 55852660 55852660 C G SNP ATG14 ENST00000247178 human ensembl 74_37 -1 known missense c.564 p.E188D 0.001 pfam_UV_resistance/autophagy_Atg14 pfam_UV_resistance/autophagy_Atg14 - no_errors ATG14 HGNC ENSG00000126775 59 0 0.00 75 4 5.06 C19orf44 0 genome.wustl.edu 37 19 16625353 16625353 + Missense_Mutation SNP T T C TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 19 16625353 16625353 T C SNP C19orf44 ENST00000221671 human ensembl 74_37 +1 known missense c.1781 p.L594P 0.997 NULL NULL - no_errors C19orf44 HGNC ENSG00000105072 tier1 - - 28 0 0.00 9 12 57.14 C1orf94 0 genome.wustl.edu 37 1 34666589 34666589 + Missense_Mutation SNP C C T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 1 34666589 34666589 C T SNP C1orf94 ENST00000488417 human ensembl 74_37 +1 known missense c.1226 p.P409L 1.000 NULL NULL - no_errors C1orf94 HGNC ENSG00000142698 22 0 0.00 12 11 47.83 CDH15 0 genome.wustl.edu 37 16 89258137 89258137 + Missense_Mutation SNP G G A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 16 89258137 89258137 G A SNP CDH15 ENST00000289746 human ensembl 74_37 +1 known missense c.1450 p.A484T 0.017 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH15 HGNC ENSG00000129910 tier1 - - 41 0 0.00 14 9 39.13 CLDN3 0 genome.wustl.edu 37 7 73183780 73183780 + Silent SNP C C T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 7 73183780 73183780 C T SNP CLDN3 ENST00000395145 human ensembl 74_37 -1 known silent c.600 p.A200 0.825 prints_Claudin3 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin3 - no_errors CLDN3 HGNC ENSG00000165215 tier1 - - 124 0 0.00 60 42 41.18 COL12A1 0 genome.wustl.edu 37 6 75840614 75840614 + Silent SNP C C T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 6 75840614 75840614 C T SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known silent c.6021 p.L2007 0.892 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 tier1 - - 99 0 0.00 18 30 62.50 CRYBB1 0 genome.wustl.edu 37 22 27003851 27003851 + Splice_Site SNP A A C TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 22 27003851 27003851 A C SNP CRYBB1 ENST00000215939 human ensembl 74_37 -1 known splice_site c.432+2 e3+2 1.000 - - - no_errors CRYBB1 HGNC ENSG00000100122 tier1 - - 71 0 0.00 20 12 37.50 DIDO1 0 genome.wustl.edu 37 20 61511261 61511261 + Missense_Mutation SNP G G A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 20 61511261 61511261 G A SNP DIDO1 ENST00000266070 human ensembl 74_37 -1 known missense c.6047 p.P2016L 0.009 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 tier1 - - 179 0 0.00 150 23 13.29 DNAH7 0 genome.wustl.edu 37 2 196762491 196762492 + Splice_Site INS - - A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 2 196762491 196762492 - A INS DNAH7 ENST00000312428 human ensembl 74_37 -1 known splice_site_ins c.4549-3_4549-2 e29-2 1.000:0.830 - - - no_errors DNAH7 HGNC ENSG00000118997 tier1 19 0 0.00 22 2 8.33 DOCK2 0 genome.wustl.edu 37 5 169116316 169116316 + Missense_Mutation SNP C C A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 5 169116316 169116316 C A SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.822 p.N274K 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 tier1 - - 41 0 0.00 19 6 24.00 DPYSL4 0 genome.wustl.edu 37 10 134015484 134015484 + Missense_Mutation SNP C C T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 10 134015484 134015484 C T SNP DPYSL4 ENST00000338492 human ensembl 74_37 +1 known missense c.1145 p.A382V 0.998 pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL4 HGNC ENSG00000151640 tier1 - - 111 0 0.00 65 18 21.69 DST 0 genome.wustl.edu 37 6 56469606 56469606 + Missense_Mutation SNP T T C TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 6 56469606 56469606 T C SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.9721 p.I3241V 0.000 superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 tier1 - - 93 0 0.00 41 38 48.10 ENSG00000252083 0 genome.wustl.edu 37 5 23972304 23972304 + RNA SNP C C T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 5 23972304 23972304 C T SNP ENSG00000252083 ENST00000516274 human ensembl 74_37 -1 novel rna NULL NULL 0.001 - - - no_errors SNORA40 RFAM ENSG00000252083 tier1 - - 22 0 0.00 10 7 41.18 ERCC6 0 genome.wustl.edu 37 10 50740920 50740920 + Missense_Mutation SNP T T C TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 10 50740920 50740920 T C SNP ERCC6 ENST00000355832 human ensembl 74_37 -1 known missense c.91 p.I31V 0.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6 HGNC ENSG00000225830 tier1 - - 61 0 0.00 35 23 39.66 ERCC6 0 genome.wustl.edu 37 10 50740946 50740946 + Missense_Mutation SNP G G T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 10 50740946 50740946 G T SNP ERCC6 ENST00000355832 human ensembl 74_37 -1 known missense c.65 p.P22H 0.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6 HGNC ENSG00000225830 tier1 - - 54 0 0.00 31 26 45.61 EXOC8 0 genome.wustl.edu 37 1 231472645 231472645 + Missense_Mutation SNP C C T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 1 231472645 231472645 C T SNP EXOC8 ENST00000360394 human ensembl 74_37 -1 known missense c.847 p.A283T 1.000 smart_Pleckstrin_homology superfamily_Cullin_repeat-like_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors EXOC8 HGNC ENSG00000116903 tier1 - - 135 0 0.00 45 35 43.75 FAT1 0 genome.wustl.edu 37 4 187524524 187524524 + Missense_Mutation SNP A A T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 4 187524524 187524524 A T SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known missense c.11156 p.V3719E 0.112 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 tier1 - - 60 0 0.00 24 7 21.88 FLJ36000 0 genome.wustl.edu 37 17 21906445 21906445 + RNA SNP A A G TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 17 21906445 21906445 A G SNP FLJ36000 ENST00000581223 human ensembl 74_37 +1 known rna NULL NULL 0.011 - - - no_errors RP11-744K17.9 Clone_based_vega_gene ENSG00000266795 tier1 rs4365334 - 9 0 0.00 6 4 40.00 FLT3 0 genome.wustl.edu 37 13 28636174 28636174 + Silent SNP C C T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 13 28636174 28636174 C T SNP FLT3 ENST00000380982 human ensembl 74_37 -1 known silent c.198 p.A66 0.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FLT3 HGNC ENSG00000122025 tier1 - - 127 0 0.00 153 18 10.53 FSD2 0 genome.wustl.edu 37 15 83434709 83434709 + Missense_Mutation SNP C C A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 15 83434709 83434709 C A SNP FSD2 ENST00000334574 human ensembl 74_37 -1 known missense c.1628 p.R543L 0.657 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,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,prints_Butyrophylin - no_errors FSD2 HGNC ENSG00000186628 15 0 0.00 7 4 36.36 FUT8 0 genome.wustl.edu 37 14 66209023 66209023 + Missense_Mutation SNP A A T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 14 66209023 66209023 A T SNP FUT8 ENST00000360689 human ensembl 74_37 +1 known missense c.1623 p.K541N 1.000 superfamily_SH3_domain,smart_SH3_domain,pirsf_Alpha1_6FUT_euk superfamily_SH3_domain,smart_SH3_domain,pirsf_Alpha1_6FUT_euk - no_errors FUT8 HGNC ENSG00000033170 tier1 - - 144 0 0.00 73 65 47.10 GGPS1 0 genome.wustl.edu 37 1 235505726 235505726 + Missense_Mutation SNP G G C TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 1 235505726 235505726 G C SNP GGPS1 ENST00000282841 human ensembl 74_37 +1 known missense c.542 p.G181A 1.000 pfam_Polyprenyl_synt,superfamily_Terpenoid_synth pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors GGPS1 HGNC ENSG00000152904 tier1 - - 115 0 0.00 75 15 16.67 GNA14 0 genome.wustl.edu 37 9 80043933 80043933 + Nonsense_Mutation SNP G G A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 9 80043933 80043933 G A SNP GNA14 ENST00000341700 human ensembl 74_37 -1 known nonsense c.613 p.Q205* 1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,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 GNA14 HGNC ENSG00000156049 tier1 - - 301 0 0.00 228 27 10.55 GNPNAT1 0 genome.wustl.edu 37 14 53245165 53245165 + Missense_Mutation SNP G G T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 14 53245165 53245165 G T SNP GNPNAT1 ENST00000216410 human ensembl 74_37 -1 known missense c.419 p.T140N 1.000 pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors GNPNAT1 HGNC ENSG00000100522 tier1 - - 65 0 0.00 31 24 43.64 GNPTAB 0 genome.wustl.edu 37 12 102142879 102142879 + Missense_Mutation SNP C C G TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 12 102142879 102142879 C G SNP GNPTAB ENST00000299314 human ensembl 74_37 -1 known missense c.3693 p.Q1231H 1.000 NULL pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_hand_dom,pfscan_Notch_dom - no_errors GNPTAB HGNC ENSG00000111670 tier1 - - 83 0 0.00 75 17 18.48 GPR149 0 genome.wustl.edu 37 3 154145325 154145325 + Missense_Mutation SNP A A G TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 3 154145325 154145325 A G SNP GPR149 ENST00000389740 human ensembl 74_37 -1 known missense c.1154 p.V385A 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR149 HGNC ENSG00000174948 tier1 - - 75 0 0.00 40 6 13.04 H6PD 0 genome.wustl.edu 37 1 9304986 9304987 + Frame_Shift_Ins INS - - C TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 1 9304986 9304987 - C INS H6PD ENST00000602477 human ensembl 74_37 +1 putative frame_shift_ins c.26_27 p.G11fs 0.000:0.680 NULL pfam_G6P_DH_C,pfam_G6P_DH_NAD-bd,prints_G6P_DH,tigrfam_6-phosphogluconolactonase_DevB - no_errors H6PD HGNC ENSG00000049239 tier1 61 0 0.00 23 2 8.00 HDGFL1 0 genome.wustl.edu 37 6 22569994 22569994 + Missense_Mutation SNP G G A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 6 22569994 22569994 G A SNP HDGFL1 ENST00000230012 human ensembl 74_37 +1 known missense c.190 p.E64K 1.000 pfam_PWWP_dom pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom - no_errors HDGFL1 HGNC ENSG00000112273 tier1 - - 45 0 0.00 29 7 19.44 HECTD4 0 genome.wustl.edu 37 12 112600926 112600926 + Missense_Mutation SNP C C A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 12 112600926 112600926 C A SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known missense c.12524 p.C4175F 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 tier1 - - 227 0 0.00 231 30 11.49 HNRNPM 0 genome.wustl.edu 37 19 8527448 8527448 + Missense_Mutation SNP G G A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 19 8527448 8527448 G A SNP HNRNPM ENST00000325495 human ensembl 74_37 +1 known missense c.319 p.A107T 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_HnRNP_M_PY-NLS,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPM HGNC ENSG00000099783 tier1 - - 245 0 0.00 96 55 36.42 HS6ST1 0 genome.wustl.edu 37 2 129075797 129075797 + Missense_Mutation SNP A A C TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 2 129075797 129075797 A C SNP HS6ST1 ENST00000259241 human ensembl 74_37 -1 known missense c.341 p.V114G 1.000 pfam_Sulfotransferase,superfamily_P-loop_NTPase pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors HS6ST1 HGNC ENSG00000136720 tier1 rs199993343 - 8 0 0.00 1 3 75.00 INPP5F 0 genome.wustl.edu 37 10 121563784 121563784 + Missense_Mutation SNP G G A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 10 121563784 121563784 G A SNP INPP5F ENST00000361976 human ensembl 74_37 +1 known missense c.1216 p.V406I 0.998 pfam_Syja_N,pfscan_Syja_N pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N - no_errors INPP5F HGNC ENSG00000198825 tier1 - - 135 0 0.00 57 67 54.03 INTS4 0 genome.wustl.edu 37 11 77614629 77614629 + Missense_Mutation SNP A A G TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 11 77614629 77614629 A G SNP INTS4 ENST00000534064 human ensembl 74_37 -1 known missense c.2054 p.L685S 1.000 NULL pfam_HEAT,superfamily_ARM-type_fold - no_errors INTS4 HGNC ENSG00000149262 51 0 0.00 36 2 5.26 IPPK 0 genome.wustl.edu 37 9 95418777 95418777 + Silent SNP G G T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 9 95418777 95418777 G T SNP IPPK ENST00000287996 human ensembl 74_37 -1 known silent c.186 p.V62 1.000 pfam_Ins_P5_2-kin pfam_Ins_P5_2-kin - no_errors IPPK HGNC ENSG00000127080 tier1 - - 144 0 0.00 146 11 7.01 KANK1 0 genome.wustl.edu 37 9 713305 713305 + Missense_Mutation SNP G G A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 9 713305 713305 G A SNP KANK1 ENST00000382297 human ensembl 74_37 +1 known missense c.2539 p.E847K 1.000 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK1 HGNC ENSG00000107104 tier1 - - 229 0 0.00 85 52 37.96 KIAA1109 0 genome.wustl.edu 37 4 123210280 123210280 + Frame_Shift_Del DEL A A - TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 4 123210280 123210280 A - DEL KIAA1109 ENST00000264501 human ensembl 74_37 +1 known frame_shift_del c.9321 p.N3108fs 0.997 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 tier1 41 0 0.00 27 2 6.90 KIF23 0 genome.wustl.edu 37 15 69733318 69733318 + Missense_Mutation SNP T T G TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 15 69733318 69733318 T G SNP KIF23 ENST00000260363 human ensembl 74_37 +1 known missense c.2279 p.I760S 0.815 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF23 HGNC ENSG00000137807 tier1 - - 79 0 0.00 38 4 9.52 KIF26A 0 genome.wustl.edu 37 14 104641544 104641544 + Missense_Mutation SNP G G A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 14 104641544 104641544 G A SNP KIF26A ENST00000423312 human ensembl 74_37 +1 known missense c.2419 p.D807N 0.999 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF26A HGNC ENSG00000066735 tier1 - - 39 0 0.00 14 12 46.15 KLHDC8A 0 genome.wustl.edu 37 1 205312625 205312625 + Silent SNP G G A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 1 205312625 205312625 G A SNP KLHDC8A ENST00000367155 human ensembl 74_37 -1 known silent c.108 p.I36 0.996 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC8A HGNC ENSG00000162873 tier1 - - 50 0 0.00 65 12 15.58 KPNA2 0 genome.wustl.edu 37 17 66033315 66033315 + Missense_Mutation SNP G G C TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 17 66033315 66033315 G C SNP KPNA2 ENST00000330459 human ensembl 74_37 +1 known missense c.67 p.D23H 1.000 pfam_Importin-a_IBB,superfamily_ARM-type_fold,pfscan_Importin-a_IBB pfam_Armadillo,pfam_Importin-a_IBB,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA2 HGNC ENSG00000182481 tier1 - - 177 0 0.00 133 36 21.30 LAMA5 0 genome.wustl.edu 37 20 60907463 60907463 + Missense_Mutation SNP C C T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 20 60907463 60907463 C T SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known missense c.3517 p.V1173M 0.853 NULL pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,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,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 tier1 - - 139 0 0.00 131 34 20.61 LLGL2 0 genome.wustl.edu 37 17 73566076 73566076 + Silent SNP G G A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 17 73566076 73566076 G A SNP LLGL2 ENST00000392550 human ensembl 74_37 +1 known silent c.1614 p.A538 0.001 superfamily_WD40_repeat_dom pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant - no_errors LLGL2 HGNC ENSG00000073350 tier1 - - 91 0 0.00 42 6 12.50 LOC101928063 0 genome.wustl.edu 37 19 44503263 44503263 + RNA SNP C C A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 19 44503263 44503263 C A SNP LOC101928063 ENST00000586860 human ensembl 74_37 -1 known rna NULL NULL 0.225 - - - no_errors RP11-15A1.7 Clone_based_vega_gene ENSG00000266921 tier1 - - 22 0 0.00 3 7 70.00 LRP1B 0 genome.wustl.edu 37 2 142238065 142238065 + Missense_Mutation SNP G G T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 2 142238065 142238065 G T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.243 p.H81Q 0.996 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 113 0 0.00 82 9 9.89 LRP2 0 genome.wustl.edu 37 2 170012816 170012816 + Missense_Mutation SNP C C T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 2 170012816 170012816 C T SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.12119 p.S4040N 0.998 superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 tier1 rs201753832 - 202 0 0.00 48 47 49.47 MAP1B 0 genome.wustl.edu 37 5 71493248 71493248 + Missense_Mutation SNP C C T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 5 71493248 71493248 C T SNP MAP1B ENST00000296755 human ensembl 74_37 +1 known missense c.4066 p.P1356S 0.000 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 tier1 - - 101 0 0.00 39 10 20.41 MAPKAPK2 0 genome.wustl.edu 37 1 206904062 206904062 + Missense_Mutation SNP G G T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 1 206904062 206904062 G T SNP MAPKAPK2 ENST00000367103 human ensembl 74_37 +1 known missense c.721 p.D241Y 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_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAPKAPK2 HGNC ENSG00000162889 tier1 - - 128 0 0.00 33 25 42.37 MEIS1 0 genome.wustl.edu 37 2 66739353 66739353 + Missense_Mutation SNP G G A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 2 66739353 66739353 G A SNP MEIS1 ENST00000407092 human ensembl 74_37 +1 known missense c.815 p.R272H 1.000 superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors MEIS1 HGNC ENSG00000143995 tier1 rs61752693 - 54 0 0.00 46 6 11.54 MXRA5 0 genome.wustl.edu 37 X 3235276 3235276 + Missense_Mutation SNP G G A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 X 3235276 3235276 G A SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known missense c.6446 p.T2149M 0.681 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 tier1 - - 23 0 0.00 2 15 88.24 MYH2 0 genome.wustl.edu 37 17 10431077 10431077 + Missense_Mutation SNP G G T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 17 10431077 10431077 G T SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known missense c.3859 p.Q1287K 1.000 pfam_Myosin_tail,superfamily_Prefoldin 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 tier1 - - 125 0 0.00 42 9 17.65 OR2T7 0 genome.wustl.edu 37 1 248604838 248604838 + Missense_Mutation SNP T T C TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 1 248604838 248604838 T C SNP OR2T7 ENST00000460972 human ensembl 74_37 +1 known missense c.331 p.C111R 0.994 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 OR2T7 HGNC ENSG00000227152 tier1 - - 217 0 0.00 130 15 10.34 OR52B2 0 genome.wustl.edu 37 11 6190927 6190927 + Silent SNP G G A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 11 6190927 6190927 G A SNP OR52B2 ENST00000530810 human ensembl 74_37 -1 known silent c.630 p.I210 0.739 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 OR52B2 HGNC ENSG00000255307 tier1 - - 58 0 0.00 32 20 38.46 OR7E24 0 genome.wustl.edu 37 19 9361741 9361741 + Frame_Shift_Del DEL T T - TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 19 9361741 9361741 T - DEL OR7E24 ENST00000456448 human ensembl 74_37 +1 known frame_shift_del c.22 p.F11fs 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7E24 HGNC ENSG00000237521 tier1 20 0 0.00 6 2 25.00 OR9Q2 0 genome.wustl.edu 37 11 57958184 57958184 + Silent SNP G G A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 11 57958184 57958184 G A SNP OR9Q2 ENST00000311591 human ensembl 74_37 +1 known silent c.222 p.S74 0.069 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 OR9Q2 HGNC ENSG00000186513 tier1 - - 98 0 0.00 51 27 34.62 P2RX3 0 genome.wustl.edu 37 11 57116108 57116108 + Missense_Mutation SNP A A C TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 11 57116108 57116108 A C SNP P2RX3 ENST00000263314 human ensembl 74_37 +1 known missense c.493 p.M165L 1.000 pfam_P2X_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X3_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX3 HGNC ENSG00000109991 tier1 - - 93 0 0.00 46 32 41.03 P2RX3 0 genome.wustl.edu 37 11 57116109 57116109 + Missense_Mutation SNP T T A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 11 57116109 57116109 T A SNP P2RX3 ENST00000263314 human ensembl 74_37 +1 known missense c.494 p.M165K 1.000 pfam_P2X_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X3_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX3 HGNC ENSG00000109991 tier1 - - 93 0 0.00 48 33 40.74 PI15 0 genome.wustl.edu 37 8 75757699 75757699 + Missense_Mutation SNP G G A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 8 75757699 75757699 G A SNP PI15 ENST00000260113 human ensembl 74_37 +1 known missense c.608 p.R203H 0.934 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 PI15 HGNC ENSG00000137558 tier1 - - 109 0 0.00 118 16 11.94 PPL 0 genome.wustl.edu 37 16 4935409 4935409 + Missense_Mutation SNP G G A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 16 4935409 4935409 G A SNP PPL ENST00000345988 human ensembl 74_37 -1 known missense c.3247 p.L1083F 0.012 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 tier1 - - 201 0 0.00 266 16 5.67 PRDM15 0 genome.wustl.edu 37 21 43230670 43230670 + Missense_Mutation SNP G G A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 21 43230670 43230670 G A SNP PRDM15 ENST00000269844 human ensembl 74_37 -1 known missense c.3590 p.T1197M 0.989 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM15 HGNC ENSG00000141956 tier1 rs149309111 - 27 0 0.00 16 4 20.00 PRDM16 0 genome.wustl.edu 37 1 3329021 3329021 + Missense_Mutation SNP G G A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 1 3329021 3329021 G A SNP PRDM16 ENST00000270722 human ensembl 74_37 +1 known missense c.2260 p.E754K 1.000 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM16 HGNC ENSG00000142611 tier1 - - 171 0 0.00 76 40 34.48 PTPRJ 0 genome.wustl.edu 37 11 48171704 48171704 + Missense_Mutation SNP A A G TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 11 48171704 48171704 A G SNP PTPRJ ENST00000418331 human ensembl 74_37 +1 known missense c.3107 p.D1036G 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,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,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRJ HGNC ENSG00000149177 tier1 - - 104 0 0.00 69 17 19.77 PXDN 0 genome.wustl.edu 37 2 1653354 1653354 + Missense_Mutation SNP G G A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 2 1653354 1653354 G A SNP PXDN ENST00000252804 human ensembl 74_37 -1 known missense c.2198 p.S733L 1.000 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 tier1 - - 156 0 0.00 172 16 8.51 SCGB2A1 0 genome.wustl.edu 37 11 61977934 61977934 + Silent SNP C C T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 11 61977934 61977934 C T SNP SCGB2A1 ENST00000244930 human ensembl 74_37 +1 known silent c.105 p.S35 0.000 pfam_Secretoglobin,superfamily_Secretoglobin pfam_Secretoglobin,superfamily_Secretoglobin - no_errors SCGB2A1 HGNC ENSG00000124939 tier1 - - 170 0 0.00 80 33 29.20 SGCE 0 genome.wustl.edu 37 7 94232734 94232734 + Silent SNP C C T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 7 94232734 94232734 C T SNP SGCE ENST00000445866 human ensembl 74_37 -1 known silent c.693 p.P231 0.721 pfam_Sarcoglycan_2 pfam_Sarcoglycan_2,superfamily_Cadherin-like,smart_Cadg - no_errors SGCE HGNC ENSG00000127990 tier1 - - 58 0 0.00 31 11 26.19 SHC4 0 genome.wustl.edu 37 15 49149968 49149968 + Missense_Mutation SNP T T C TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 15 49149968 49149968 T C SNP SHC4 ENST00000332408 human ensembl 74_37 -1 known missense c.991 p.I331V 1.000 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,prints_PID_Shc-like pfam_PTB/PI_dom,pfam_SH2,smart_PTB/PI_dom,smart_SH2,pfscan_PTB/PI_dom,pfscan_SH2,prints_PID_Shc-like,prints_SH2 - no_errors SHC4 HGNC ENSG00000185634 tier1 - - 184 0 0.00 128 10 7.25 SNHG14 0 genome.wustl.edu 37 15 25349758 25349758 + RNA SNP C C T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 15 25349758 25349758 C T SNP SNHG14 ENST00000546682 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 tier1 - - 51 0 0.00 26 10 27.78 SNHG14 0 genome.wustl.edu 37 15 25449335 25449335 + RNA SNP G G T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 15 25449335 25449335 G T SNP SNHG14 ENST00000424208 human ensembl 74_37 +1 known rna NULL NULL 0.101 - - - no_errors SNHG14 HGNC ENSG00000224078 tier1 - - 28 0 0.00 11 6 35.29 SNORA54 0 genome.wustl.edu 37 11 2985109 2985109 + RNA SNP T T G TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 11 2985109 2985109 T G SNP SNORA54 ENST00000384281 human ensembl 74_37 -1 known rna NULL NULL 0.987 - - - no_errors SNORA54 HGNC ENSG00000207008 tier1 - - 275 0 0.00 203 17 7.73 SNTG1 0 genome.wustl.edu 37 8 51664599 51664599 + Silent SNP T T G TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 8 51664599 51664599 T G SNP SNTG1 ENST00000518864 human ensembl 74_37 +1 known silent c.1323 p.G441 0.996 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTG1 HGNC ENSG00000147481 tier1 - - 144 0 0.00 106 51 32.48 SRCAP 0 genome.wustl.edu 37 16 30727758 30727758 + Silent SNP C C T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 16 30727758 30727758 C T SNP SRCAP ENST00000262518 human ensembl 74_37 +1 known silent c.2775 p.T925 0.778 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 tier1 - - 656 0 0.00 360 132 26.72 STXBP3 0 genome.wustl.edu 37 1 109315306 109315306 + Missense_Mutation SNP C C A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 1 109315306 109315306 C A SNP STXBP3 ENST00000370008 human ensembl 74_37 +1 known missense c.458 p.P153Q 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors STXBP3 HGNC ENSG00000116266 tier1 - - 54 0 0.00 38 4 9.52 TFAP2C 0 genome.wustl.edu 37 20 55206867 55206867 + Missense_Mutation SNP G G A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 20 55206867 55206867 G A SNP TFAP2C ENST00000201031 human ensembl 74_37 +1 known missense c.541 p.D181N 0.997 NULL pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_gamma - no_errors TFAP2C HGNC ENSG00000087510 tier1 - - 97 0 0.00 87 12 12.12 TMEM246 0 genome.wustl.edu 37 9 104238806 104238806 + Missense_Mutation SNP T T G TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 9 104238806 104238806 T G SNP TMEM246 ENST00000374847 human ensembl 74_37 -1 known missense c.569 p.D190A 1.000 NULL NULL - no_errors TMEM246 HGNC ENSG00000165152 tier1 - - 79 0 0.00 65 5 7.14 TMEM59 0 genome.wustl.edu 37 1 54502396 54502396 + RNA DEL A A - TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 1 54502396 54502396 A - DEL TMEM59 ENST00000470395 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TMEM59 HGNC ENSG00000116209 tier1 34 0 0.00 12 3 20.00 TMEM63C 0 genome.wustl.edu 37 14 77722964 77722964 + Silent SNP G G A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 14 77722964 77722964 G A SNP TMEM63C ENST00000298351 human ensembl 74_37 +1 known silent c.2316 p.P772 0.994 NULL pfam_DUF221 - no_errors TMEM63C HGNC ENSG00000165548 tier1 - - 327 0 0.00 190 93 32.86 TNN 0 genome.wustl.edu 37 1 175063242 175063242 + Missense_Mutation SNP G G T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 1 175063242 175063242 G T SNP TNN ENST00000239462 human ensembl 74_37 +1 known missense c.1441 p.D481Y 0.953 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 tier1 - - 54 0 0.00 41 6 12.50 TNXB 0 genome.wustl.edu 37 6 32036898 32036898 + Missense_Mutation SNP G G A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 6 32036898 32036898 G A SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.5603 p.T1868M 0.000 NULL 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 45 0 0.00 29 11 27.50 TOMM20 0 genome.wustl.edu 37 1 235292025 235292025 + Silent SNP C C G TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 1 235292025 235292025 C G SNP TOMM20 ENST00000366607 human ensembl 74_37 -1 known silent c.6 p.V2 1.000 pirsf_MAS20_rcpt-related,tigrfam_MAS20_rcpt-related pfam_MAS20_rcpt-related,superfamily_Tom20_dom,pirsf_MAS20_rcpt-related,prints_MAS20_rcpt_metazoan,prints_MAS20_rcpt-related,tigrfam_MAS20_rcpt-related - no_errors TOMM20 HGNC ENSG00000173726 tier1 - - 255 0 0.00 139 43 23.63 TP53 0 genome.wustl.edu 37 17 7577570 7577570 + Missense_Mutation SNP C C T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 17 7577570 7577570 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.711 p.M237I 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor 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 tier1 - - 109 0 0.00 13 36 73.47 TRPV4 0 genome.wustl.edu 37 12 110252435 110252435 + Missense_Mutation SNP C C T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 12 110252435 110252435 C T SNP TRPV4 ENST00000261740 human ensembl 74_37 -1 known missense c.167 p.R56H 0.998 NULL pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,prints_TRPV4_channel,tigrfam_TRP_channel - no_errors TRPV4 HGNC ENSG00000111199 54 0 0.00 56 5 8.20 TTC27 0 genome.wustl.edu 37 2 32875255 32875255 + Missense_Mutation SNP C C T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 2 32875255 32875255 C T SNP TTC27 ENST00000317907 human ensembl 74_37 +1 known missense c.595 p.R199C 0.985 NULL pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC27 HGNC ENSG00000018699 tier1 - - 188 0 0.00 174 16 8.42 TTN 0 genome.wustl.edu 37 2 179482970 179482970 + Missense_Mutation SNP C C G TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 2 179482970 179482970 C G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.39511 p.G13171R 1.000 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 tier1 - - 218 0 0.00 117 23 16.43 WDR17 0 genome.wustl.edu 37 4 177071245 177071245 + Missense_Mutation SNP G G A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 4 177071245 177071245 G A SNP WDR17 ENST00000280190 human ensembl 74_37 +1 known missense c.2171 p.R724K 1.000 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 WDR17 HGNC ENSG00000150627 tier1 - - 68 0 0.00 40 6 13.04 ZCCHC5 0 genome.wustl.edu 37 X 77912605 77912605 + Missense_Mutation SNP C C T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 X 77912605 77912605 C T SNP ZCCHC5 ENST00000321110 human ensembl 74_37 -1 known missense c.1313 p.R438H 0.000 superfamily_Znf_CCHC pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC5 HGNC ENSG00000179300 tier1 - - 52 0 0.00 12 33 73.33 HRNR 0 genome.wustl.edu 37 1 152192336 152192336 + Missense_Mutation SNP C C T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 1 152192336 152192336 C T SNP HRNR ENST00000368801 human ensembl 74_37 -1 known missense c.1769 p.R590H 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 373 1 0.26738 336 61 15.3652 TNN 0 genome.wustl.edu 37 1 175063242 175063242 + Missense_Mutation SNP G G T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 1 175063242 175063242 G T SNP TNN ENST00000239462 human ensembl 74_37 +1 known missense c.1441 p.D481Y 0.953 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 50 0 0 41 6 12.766 KLHDC8A 0 genome.wustl.edu 37 1 205312625 205312625 + Silent SNP G G A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 1 205312625 205312625 G A SNP KLHDC8A ENST00000367155 human ensembl 74_37 -1 known silent c.108 p.I36 0.996 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC8A HGNC ENSG00000162873 49 0 0 58 10 14.7059 MAPKAPK2 0 genome.wustl.edu 37 1 206904062 206904062 + Missense_Mutation SNP G G T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 1 206904062 206904062 G T SNP MAPKAPK2 ENST00000367103 human ensembl 74_37 +1 known missense c.721 p.D241Y 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_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAPKAPK2 HGNC ENSG00000162889 102 0 0 29 22 43.1373 EXOC8 0 genome.wustl.edu 37 1 231472645 231472645 + Missense_Mutation SNP C C T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 1 231472645 231472645 C T SNP EXOC8 ENST00000360394 human ensembl 74_37 -1 known missense c.847 p.A283T 1.000 smart_Pleckstrin_homology superfamily_Cullin_repeat-like_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors EXOC8 HGNC ENSG00000116903 118 0 0 41 32 43.8356 TOMM20 0 genome.wustl.edu 37 1 235292025 235292025 + Silent SNP C C G TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 1 235292025 235292025 C G SNP TOMM20 ENST00000366607 human ensembl 74_37 -1 known silent c.6 p.V2 1.000 pirsf_MAS20_rcpt-related,tigrfam_MAS20_rcpt-related pfam_MAS20_rcpt-related,superfamily_Tom20_dom,pirsf_MAS20_rcpt-related,prints_MAS20_rcpt_metazoan,prints_MAS20_rcpt-related,tigrfam_MAS20_rcpt-related - no_errors TOMM20 HGNC ENSG00000173726 214 0 0 121 35 22.4359 GGPS1 0 genome.wustl.edu 37 1 235505726 235505726 + Missense_Mutation SNP G G C TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 1 235505726 235505726 G C SNP GGPS1 ENST00000282841 human ensembl 74_37 +1 known missense c.542 p.G181A 1.000 pfam_Polyprenyl_synt,superfamily_Terpenoid_synth pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors GGPS1 HGNC ENSG00000152904 105 0 0 67 14 17.284 PRDM16 0 genome.wustl.edu 37 1 3329021 3329021 + Missense_Mutation SNP G G A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 1 3329021 3329021 G A SNP PRDM16 ENST00000270722 human ensembl 74_37 +1 known missense c.2260 p.E754K 1.000 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM16 HGNC ENSG00000142611 151 1 0.657895 65 35 35 C1orf94 0 genome.wustl.edu 37 1 34666589 34666589 + Missense_Mutation SNP C C T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 1 34666589 34666589 C T SNP C1orf94 ENST00000488417 human ensembl 74_37 +1 known missense c.1226 p.P409L 1.000 NULL NULL - no_errors C1orf94 HGNC ENSG00000142698 22 0 0 12 11 47.8261 INPP5F 0 genome.wustl.edu 37 10 121563784 121563784 + Missense_Mutation SNP G G A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 10 121563784 121563784 G A SNP INPP5F ENST00000361976 human ensembl 74_37 +1 known missense c.1216 p.V406I 0.998 pfam_Syja_N,pfscan_Syja_N pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N - no_errors INPP5F HGNC ENSG00000198825 120 0 0 51 58 53.211 DPYSL4 0 genome.wustl.edu 37 10 134015484 134015484 + Missense_Mutation SNP C C T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 10 134015484 134015484 C T SNP DPYSL4 ENST00000338492 human ensembl 74_37 +1 known missense c.1145 p.A382V 0.998 pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL4 HGNC ENSG00000151640 101 0 0 55 16 22.5352 ERCC6 0 genome.wustl.edu 37 10 50740920 50740920 + Missense_Mutation SNP T T C TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 10 50740920 50740920 T C SNP ERCC6 ENST00000355832 human ensembl 74_37 -1 known missense c.91 p.I31V 0.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6 HGNC ENSG00000225830 57 0 0 33 21 38.8889 ERCC6 0 genome.wustl.edu 37 10 50740946 50740946 + Missense_Mutation SNP G G T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 10 50740946 50740946 G T SNP ERCC6 ENST00000355832 human ensembl 74_37 -1 known missense c.65 p.P22H 0.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6 HGNC ENSG00000225830 49 0 0 27 22 44.898 ADAMTS14 0 genome.wustl.edu 37 10 72520524 72520524 + Missense_Mutation SNP C C T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 10 72520524 72520524 C T SNP ADAMTS14 ENST00000373208 human ensembl 74_37 +1 known missense c.3596 p.T1199M 0.000 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS14 HGNC ENSG00000138316 73 0 0 26 36 58.0645 PTPRJ 0 genome.wustl.edu 37 11 48171704 48171704 + Missense_Mutation SNP A A G TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 11 48171704 48171704 A G SNP PTPRJ ENST00000418331 human ensembl 74_37 +1 known missense c.3107 p.D1036G 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,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,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRJ HGNC ENSG00000149177 83 0 0 54 13 19.403 P2RX3 0 genome.wustl.edu 37 11 57116108 57116108 + Missense_Mutation SNP A A C TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 11 57116108 57116108 A C SNP P2RX3 ENST00000263314 human ensembl 74_37 +1 known missense c.493 p.M165L 1.000 pfam_P2X_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X3_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX3 HGNC ENSG00000109991 81 0 0 39 24 38.0952 P2RX3 0 genome.wustl.edu 37 11 57116109 57116109 + Missense_Mutation SNP T T A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 11 57116109 57116109 T A SNP P2RX3 ENST00000263314 human ensembl 74_37 +1 known missense c.494 p.M165K 1.000 pfam_P2X_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X3_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX3 HGNC ENSG00000109991 80 0 0 41 24 36.9231 OR9Q2 0 genome.wustl.edu 37 11 57958184 57958184 + Silent SNP G G A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 11 57958184 57958184 G A SNP OR9Q2 ENST00000311591 human ensembl 74_37 +1 known silent c.222 p.S74 0.069 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 OR9Q2 HGNC ENSG00000186513 96 0 0 50 27 35.0649 OR52B2 0 genome.wustl.edu 37 11 6190927 6190927 + Silent SNP G G A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 11 6190927 6190927 G A SNP OR52B2 ENST00000530810 human ensembl 74_37 -1 known silent c.630 p.I210 0.739 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 OR52B2 HGNC ENSG00000255307 53 0 0 29 19 39.5833 SCGB2A1 0 genome.wustl.edu 37 11 61977934 61977934 + Silent SNP C C T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 11 61977934 61977934 C T SNP SCGB2A1 ENST00000244930 human ensembl 74_37 +1 known silent c.105 p.S35 0.000 pfam_Secretoglobin,superfamily_Secretoglobin pfam_Secretoglobin,superfamily_Secretoglobin - no_errors SCGB2A1 HGNC ENSG00000124939 141 0 0 67 28 29.4737 GNPTAB 0 genome.wustl.edu 37 12 102142879 102142879 + Missense_Mutation SNP C C G TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 12 102142879 102142879 C G SNP GNPTAB ENST00000299314 human ensembl 74_37 -1 known missense c.3693 p.Q1231H 1.000 NULL pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_hand_dom,pfscan_Notch_dom - no_errors GNPTAB HGNC ENSG00000111670 78 0 0 69 17 19.7674 TRPV4 0 genome.wustl.edu 37 12 110252435 110252435 + Missense_Mutation SNP C C T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 12 110252435 110252435 C T SNP TRPV4 ENST00000261740 human ensembl 74_37 -1 known missense c.167 p.R56H 0.998 NULL pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,prints_TRPV4_channel,tigrfam_TRP_channel - no_errors TRPV4 HGNC ENSG00000111199 50 0 0 51 5 8.92857 HECTD4 0 genome.wustl.edu 37 12 112600926 112600926 + Missense_Mutation SNP C C A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 12 112600926 112600926 C A SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known missense c.12524 p.C4175F 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 201 0 0 203 28 12.1212 FLT3 0 genome.wustl.edu 37 13 28636174 28636174 + Silent SNP C C T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 13 28636174 28636174 C T SNP FLT3 ENST00000380982 human ensembl 74_37 -1 known silent c.198 p.A66 0.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FLT3 HGNC ENSG00000122025 106 0 0 125 15 10.7143 KIF26A 0 genome.wustl.edu 37 14 104641544 104641544 + Missense_Mutation SNP G G A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 14 104641544 104641544 G A SNP KIF26A ENST00000423312 human ensembl 74_37 +1 known missense c.2419 p.D807N 0.999 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF26A HGNC ENSG00000066735 35 0 0 13 12 48 GNPNAT1 0 genome.wustl.edu 37 14 53245165 53245165 + Missense_Mutation SNP G G T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 14 53245165 53245165 G T SNP GNPNAT1 ENST00000216410 human ensembl 74_37 -1 known missense c.419 p.T140N 1.000 pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors GNPNAT1 HGNC ENSG00000100522 61 0 0 26 21 44.6809 ATG14 0 genome.wustl.edu 37 14 55852660 55852660 + Missense_Mutation SNP C C G TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 14 55852660 55852660 C G SNP ATG14 ENST00000247178 human ensembl 74_37 -1 known missense c.564 p.E188D 0.001 pfam_UV_resistance/autophagy_Atg14 pfam_UV_resistance/autophagy_Atg14 - no_errors ATG14 HGNC ENSG00000126775 55 0 0 68 4 5.55556 FUT8 0 genome.wustl.edu 37 14 66209023 66209023 + Missense_Mutation SNP A A T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 14 66209023 66209023 A T SNP FUT8 ENST00000360689 human ensembl 74_37 +1 known missense c.1623 p.K541N 1.000 superfamily_SH3_domain,smart_SH3_domain,pirsf_Alpha1_6FUT_euk superfamily_SH3_domain,smart_SH3_domain,pirsf_Alpha1_6FUT_euk - no_errors FUT8 HGNC ENSG00000033170 133 0 0 68 56 45.1613 TMEM63C 0 genome.wustl.edu 37 14 77722964 77722964 + Silent SNP G G A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 14 77722964 77722964 G A SNP TMEM63C ENST00000298351 human ensembl 74_37 +1 known silent c.2316 p.P772 0.994 NULL pfam_DUF221 - no_errors TMEM63C HGNC ENSG00000165548 296 0 0 179 86 32.4528 DNM1P47 0 genome.wustl.edu 37 15 102304772 102304772 + RNA SNP T T C TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 15 102304772 102304772 T C SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 0.984 - - - no_errors DNM1P47 HGNC ENSG00000259660 26 0 0 20 3 13.0435 SNHG14 0 genome.wustl.edu 37 15 25349758 25349758 + RNA SNP C C T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 15 25349758 25349758 C T SNP SNHG14 ENST00000546682 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 49 0 0 26 9 25.7143 SNHG14 0 genome.wustl.edu 37 15 25449335 25449335 + RNA SNP G G T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 15 25449335 25449335 G T SNP SNHG14 ENST00000424208 human ensembl 74_37 +1 known rna NULL NULL 0.101 - - - no_errors SNHG14 HGNC ENSG00000224078 28 0 0 11 6 35.2941 SHC4 0 genome.wustl.edu 37 15 49149968 49149968 + Missense_Mutation SNP T T C TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 15 49149968 49149968 T C SNP SHC4 ENST00000332408 human ensembl 74_37 -1 known missense c.991 p.I331V 1.000 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,prints_PID_Shc-like pfam_PTB/PI_dom,pfam_SH2,smart_PTB/PI_dom,smart_SH2,pfscan_PTB/PI_dom,pfscan_SH2,prints_PID_Shc-like,prints_SH2 - no_errors SHC4 HGNC ENSG00000185634 157 0 0 106 9 7.82609 KIF23 0 genome.wustl.edu 37 15 69733318 69733318 + Missense_Mutation SNP T T G TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 15 69733318 69733318 T G SNP KIF23 ENST00000260363 human ensembl 74_37 +1 known missense c.2279 p.I760S 0.815 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF23 HGNC ENSG00000137807 71 0 0 34 3 8.10811 SRCAP 0 genome.wustl.edu 37 16 30727758 30727758 + Silent SNP C C T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 16 30727758 30727758 C T SNP SRCAP ENST00000262518 human ensembl 74_37 +1 known silent c.2775 p.T925 0.778 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 558 0 0 298 112 27.3171 PPL 0 genome.wustl.edu 37 16 4935409 4935409 + Missense_Mutation SNP G G A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 16 4935409 4935409 G A SNP PPL ENST00000345988 human ensembl 74_37 -1 known missense c.3247 p.L1083F 0.012 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 167 0 0 226 12 5.04202 MYH2 0 genome.wustl.edu 37 17 10431077 10431077 + Missense_Mutation SNP G G T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 17 10431077 10431077 G T SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known missense c.3859 p.Q1287K 1.000 pfam_Myosin_tail,superfamily_Prefoldin 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 120 0 0 39 9 18.75 ARHGAP44 0 genome.wustl.edu 37 17 12893352 12893352 + Missense_Mutation SNP T T C TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 17 12893352 12893352 T C SNP ARHGAP44 ENST00000379672 human ensembl 74_37 +1 known missense c.2321 p.L774P 0.920 NULL pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors ARHGAP44 HGNC ENSG00000006740 112 0 0 33 21 38.8889 RTN4RL1 0 genome.wustl.edu 37 17 1840455 1840455 + Missense_Mutation SNP G G A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 17 1840455 1840455 G A SNP RTN4RL1 ENST00000331238 human ensembl 74_37 -1 known missense c.661 p.R221C 0.877 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors RTN4RL1 HGNC ENSG00000185924 38 0 0 24 3 11.1111 KRTAP4-11 0 genome.wustl.edu 37 17 39274087 39274087 + Missense_Mutation SNP G G C TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 17 39274087 39274087 G C SNP KRTAP4-11 ENST00000391413 human ensembl 74_37 -1 known missense c.481 p.L161V 0.005 NULL pfam_Keratin-assoc - no_errors KRTAP4-11 HGNC ENSG00000212721 17 0 0 88 15 14.5631 KPNA2 0 genome.wustl.edu 37 17 66033315 66033315 + Missense_Mutation SNP G G C TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 17 66033315 66033315 G C SNP KPNA2 ENST00000330459 human ensembl 74_37 +1 known missense c.67 p.D23H 1.000 pfam_Importin-a_IBB,superfamily_ARM-type_fold,pfscan_Importin-a_IBB pfam_Armadillo,pfam_Importin-a_IBB,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA2 HGNC ENSG00000182481 150 0 0 116 34 22.6667 LLGL2 0 genome.wustl.edu 37 17 73566076 73566076 + Silent SNP G G A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 17 73566076 73566076 G A SNP LLGL2 ENST00000392550 human ensembl 74_37 +1 known silent c.1614 p.A538 0.001 superfamily_WD40_repeat_dom pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant - no_errors LLGL2 HGNC ENSG00000073350 81 0 0 37 5 11.9048 TP53 0 genome.wustl.edu 37 17 7577570 7577570 + Missense_Mutation SNP C C T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 17 7577570 7577570 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.711 p.M237I 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor 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 97 0 0 12 27 69.2308 C19orf44 0 genome.wustl.edu 37 19 16625353 16625353 + Missense_Mutation SNP T T C TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 19 16625353 16625353 T C SNP C19orf44 ENST00000221671 human ensembl 74_37 +1 known missense c.1781 p.L594P 0.997 NULL NULL - no_errors C19orf44 HGNC ENSG00000105072 27 0 0 9 11 55 LOC101928063 0 genome.wustl.edu 37 19 44503263 44503263 + RNA SNP C C A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 19 44503263 44503263 C A SNP LOC101928063 ENST00000586860 human ensembl 74_37 -1 known rna NULL NULL 0.225 - - - no_errors RP11-15A1.7 Clone_based_vega_gene ENSG00000266921 22 0 0 3 7 70 LILRB5 0 genome.wustl.edu 37 19 54754990 54754990 + Missense_Mutation SNP C C G TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 19 54754990 54754990 C G SNP LILRB5 ENST00000450632 human ensembl 74_37 -1 known missense c.1645 p.E549Q 0.001 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB5 HGNC ENSG00000105609 21 0 0 6 4 40 HNRNPM 0 genome.wustl.edu 37 19 8527448 8527448 + Missense_Mutation SNP G G A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 19 8527448 8527448 G A SNP HNRNPM ENST00000325495 human ensembl 74_37 +1 known missense c.319 p.A107T 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_HnRNP_M_PY-NLS,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPM HGNC ENSG00000099783 210 0 0 82 46 35.9375 LRP1B 0 genome.wustl.edu 37 2 142238065 142238065 + Missense_Mutation SNP G G T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 2 142238065 142238065 G T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.243 p.H81Q 0.996 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 95 0 0 65 7 9.72222 PXDN 0 genome.wustl.edu 37 2 1653354 1653354 + Missense_Mutation SNP G G A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 2 1653354 1653354 G A SNP PXDN ENST00000252804 human ensembl 74_37 -1 known missense c.2198 p.S733L 1.000 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 148 0 0 163 15 8.42697 LRP2 0 genome.wustl.edu 37 2 170012816 170012816 + Missense_Mutation SNP C C T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 2 170012816 170012816 C T SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.12119 p.S4040N 0.998 superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 179 0 0 43 45 51.1364 TTN 0 genome.wustl.edu 37 2 179482970 179482970 + Missense_Mutation SNP C C G TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 2 179482970 179482970 C G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.39511 p.G13171R 1.000 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 186 0 0 107 18 14.4 TTC27 0 genome.wustl.edu 37 2 32875255 32875255 + Missense_Mutation SNP C C T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 2 32875255 32875255 C T SNP TTC27 ENST00000317907 human ensembl 74_37 +1 known missense c.595 p.R199C 0.985 NULL pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC27 HGNC ENSG00000018699 162 0 0 141 12 7.84314 MEIS1 0 genome.wustl.edu 37 2 66739353 66739353 + Missense_Mutation SNP G G A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 2 66739353 66739353 G A SNP MEIS1 ENST00000407092 human ensembl 74_37 +1 known missense c.815 p.R272H 1.000 superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors MEIS1 HGNC ENSG00000143995 50 0 0 44 5 10.2041 TFAP2C 0 genome.wustl.edu 37 20 55206867 55206867 + Missense_Mutation SNP G G A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 20 55206867 55206867 G A SNP TFAP2C ENST00000201031 human ensembl 74_37 +1 known missense c.541 p.D181N 0.997 NULL pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_gamma - no_errors TFAP2C HGNC ENSG00000087510 84 0 0 73 10 12.0482 LAMA5 0 genome.wustl.edu 37 20 60907463 60907463 + Missense_Mutation SNP C C T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 20 60907463 60907463 C T SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known missense c.3517 p.V1173M 0.853 NULL pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,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,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 115 0 0 108 27 20 DIDO1 0 genome.wustl.edu 37 20 61511261 61511261 + Missense_Mutation SNP G G A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 20 61511261 61511261 G A SNP DIDO1 ENST00000266070 human ensembl 74_37 -1 known missense c.6047 p.P2016L 0.009 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 169 0 0 139 22 13.6646 PRDM15 0 genome.wustl.edu 37 21 43230670 43230670 + Missense_Mutation SNP G G A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 21 43230670 43230670 G A SNP PRDM15 ENST00000269844 human ensembl 74_37 -1 known missense c.3590 p.T1197M 0.989 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM15 HGNC ENSG00000141956 24 0 0 12 3 20 CRYBB1 0 genome.wustl.edu 37 22 27003851 27003851 + Splice_Site SNP A A C TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 22 27003851 27003851 A C SNP CRYBB1 ENST00000215939 human ensembl 74_37 -1 known splice_site c.432+2 e3+2 1.000 - - - no_errors CRYBB1 HGNC ENSG00000100122 63 0 0 19 12 38.7097 MTMR3 0 genome.wustl.edu 37 22 30415963 30415963 + Missense_Mutation SNP T T A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 22 30415963 30415963 T A SNP MTMR3 ENST00000401950 human ensembl 74_37 +1 known missense c.2315 p.L772H 0.000 NULL pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Tyr_Pase_cat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors MTMR3 HGNC ENSG00000100330 154 1 0.645161 29 47 61.8421 TRPC1 0 genome.wustl.edu 37 3 142455233 142455233 + Missense_Mutation SNP T T A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 3 142455233 142455233 T A SNP TRPC1 ENST00000476941 human ensembl 74_37 +1 known missense c.185 p.M62K 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,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 50 0 0 32 4 11.1111 GPR149 0 genome.wustl.edu 37 3 154145325 154145325 + Missense_Mutation SNP A A G TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 3 154145325 154145325 A G SNP GPR149 ENST00000389740 human ensembl 74_37 -1 known missense c.1154 p.V385A 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR149 HGNC ENSG00000174948 64 0 0 37 6 13.9535 SFMBT1 0 genome.wustl.edu 37 3 52940182 52940182 + Missense_Mutation SNP G G A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 3 52940182 52940182 G A SNP SFMBT1 ENST00000358080 human ensembl 74_37 -1 known missense c.2407 p.R803W 1.000 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT1 HGNC ENSG00000163935 108 1 0.917431 42 3 6.66667 SLMAP 0 genome.wustl.edu 37 3 57898318 57898318 + Missense_Mutation SNP G G A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 3 57898318 57898318 G A SNP SLMAP ENST00000428312 human ensembl 74_37 +1 known missense c.1859 p.R620Q 1.000 pfam_PFD_beta-like,superfamily_Prefoldin pfam_FHA_dom,pfam_PFD_beta-like,superfamily_SMAD_FHA_domain,superfamily_Prefoldin,smart_FHA_dom,pfscan_FHA_dom - no_errors SLMAP HGNC ENSG00000163681 121 1 0.819672 46 3 6.12245 RAB28 0 genome.wustl.edu 37 4 13476030 13476030 + Missense_Mutation SNP C C A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 4 13476030 13476030 C A SNP RAB28 ENST00000330852 human ensembl 74_37 -1 known missense c.173 p.G58V 1.000 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 RAB28 HGNC ENSG00000157869 103 0 0 63 7 10 WDR17 0 genome.wustl.edu 37 4 177071245 177071245 + Missense_Mutation SNP G G A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 4 177071245 177071245 G A SNP WDR17 ENST00000280190 human ensembl 74_37 +1 known missense c.2171 p.R724K 1.000 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 WDR17 HGNC ENSG00000150627 62 0 0 39 5 11.3636 FAT1 0 genome.wustl.edu 37 4 187524524 187524524 + Missense_Mutation SNP A A T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 4 187524524 187524524 A T SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known missense c.11156 p.V3719E 0.112 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 55 0 0 22 7 24.1379 PCDHGA3 0 genome.wustl.edu 37 5 140725933 140725933 + Missense_Mutation SNP C C T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 5 140725933 140725933 C T SNP PCDHGA3 ENST00000253812 human ensembl 74_37 +1 known missense c.2333 p.T778M 0.984 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA3 HGNC ENSG00000254245 206 1 0.483092 107 32 23.0216 DOCK2 0 genome.wustl.edu 37 5 169116316 169116316 + Missense_Mutation SNP C C A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 5 169116316 169116316 C A SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.822 p.N274K 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 35 0 0 18 6 25 ZNF354A 0 genome.wustl.edu 37 5 178139791 178139791 + Missense_Mutation SNP A A C TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 5 178139791 178139791 A C SNP ZNF354A ENST00000335815 human ensembl 74_37 -1 known missense c.1088 p.F363C 0.998 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 ZNF354A HGNC ENSG00000169131 114 0 0 70 4 5.40541 MAP1B 0 genome.wustl.edu 37 5 71493248 71493248 + Missense_Mutation SNP C C T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 5 71493248 71493248 C T SNP MAP1B ENST00000296755 human ensembl 74_37 +1 known missense c.4066 p.P1356S 0.000 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 93 0 0 38 9 19.1489 HDGFL1 0 genome.wustl.edu 37 6 22569994 22569994 + Missense_Mutation SNP G G A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 6 22569994 22569994 G A SNP HDGFL1 ENST00000230012 human ensembl 74_37 +1 known missense c.190 p.E64K 1.000 pfam_PWWP_dom pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom - no_errors HDGFL1 HGNC ENSG00000112273 42 0 0 25 6 19.3548 DST 0 genome.wustl.edu 37 6 56469606 56469606 + Missense_Mutation SNP T T C TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 6 56469606 56469606 T C SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.9721 p.I3241V 0.000 superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 90 0 0 41 36 46.7532 COL12A1 0 genome.wustl.edu 37 6 75840614 75840614 + Silent SNP C C T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 6 75840614 75840614 C T SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known silent c.6021 p.L2007 0.892 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 93 0 0 16 29 64.4444 CLDN3 0 genome.wustl.edu 37 7 73183780 73183780 + Silent SNP C C T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 7 73183780 73183780 C T SNP CLDN3 ENST00000395145 human ensembl 74_37 -1 known silent c.600 p.A200 0.825 prints_Claudin3 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin3 - no_errors CLDN3 HGNC ENSG00000165215 105 0 0 45 34 43.038 SGCE 0 genome.wustl.edu 37 7 94232734 94232734 + Silent SNP C C T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 7 94232734 94232734 C T SNP SGCE ENST00000445866 human ensembl 74_37 -1 known silent c.693 p.P231 0.721 pfam_Sarcoglycan_2 pfam_Sarcoglycan_2,superfamily_Cadherin-like,smart_Cadg - no_errors SGCE HGNC ENSG00000127990 48 0 0 26 9 25.7143 SNTG1 0 genome.wustl.edu 37 8 51664599 51664599 + Silent SNP T T G TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 8 51664599 51664599 T G SNP SNTG1 ENST00000518864 human ensembl 74_37 +1 known silent c.1323 p.G441 0.996 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTG1 HGNC ENSG00000147481 121 0 0 90 40 30.7692 PI15 0 genome.wustl.edu 37 8 75757699 75757699 + Missense_Mutation SNP G G A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 8 75757699 75757699 G A SNP PI15 ENST00000260113 human ensembl 74_37 +1 known missense c.608 p.R203H 0.934 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 PI15 HGNC ENSG00000137558 95 0 0 103 15 12.7119 TMEM246 0 genome.wustl.edu 37 9 104238806 104238806 + Missense_Mutation SNP T T G TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 9 104238806 104238806 T G SNP TMEM246 ENST00000374847 human ensembl 74_37 -1 known missense c.569 p.D190A 1.000 NULL NULL - no_errors TMEM246 HGNC ENSG00000165152 77 0 0 60 5 7.69231 MOB3B 0 genome.wustl.edu 37 9 27455352 27455352 + Missense_Mutation SNP T T C TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 9 27455352 27455352 T C SNP MOB3B ENST00000262244 human ensembl 74_37 -1 known missense c.197 p.D66G 1.000 pfam_Mob1_phocein,superfamily_Mob1_phocein pfam_Mob1_phocein,superfamily_Mob1_phocein - no_errors MOB3B HGNC ENSG00000120162 122 1 0.813008 45 38 45.7831 KANK1 0 genome.wustl.edu 37 9 713305 713305 + Missense_Mutation SNP G G A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 9 713305 713305 G A SNP KANK1 ENST00000382297 human ensembl 74_37 +1 known missense c.2539 p.E847K 1.000 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK1 HGNC ENSG00000107104 207 0 0 76 48 38.7097 GNA14 0 genome.wustl.edu 37 9 80043933 80043933 + Nonsense_Mutation SNP G G A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 9 80043933 80043933 G A SNP GNA14 ENST00000341700 human ensembl 74_37 -1 known nonsense c.613 p.Q205* 1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,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 GNA14 HGNC ENSG00000156049 261 0 0 194 24 11.0092 IPPK 0 genome.wustl.edu 37 9 95418777 95418777 + Silent SNP G G T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 9 95418777 95418777 G T SNP IPPK ENST00000287996 human ensembl 74_37 -1 known silent c.186 p.V62 1.000 pfam_Ins_P5_2-kin pfam_Ins_P5_2-kin - no_errors IPPK HGNC ENSG00000127080 119 0 0 121 8 6.20155 PLXNB3 0 genome.wustl.edu 37 X 153040183 153040183 + Missense_Mutation SNP C C T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 X 153040183 153040183 C T SNP PLXNB3 ENST00000538966 human ensembl 74_37 +1 known missense c.3922 p.R1308W 1.000 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Plexin_repeat,pfam_Semap_dom,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 PLXNB3 HGNC ENSG00000198753 15 0 0 20 3 13.0435 F8 0 genome.wustl.edu 37 X 154158080 154158080 + Missense_Mutation SNP G G A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 X 154158080 154158080 G A SNP F8 ENST00000360256 human ensembl 74_37 -1 known missense c.3985 p.R1329C 0.001 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 104 1 0.952381 80 20 20 MXRA5 0 genome.wustl.edu 37 X 3235276 3235276 + Missense_Mutation SNP G G A TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 X 3235276 3235276 G A SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known missense c.6446 p.T2149M 0.681 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 21 0 0 1 14 93.3333 AMER1 0 genome.wustl.edu 37 X 63411781 63411781 + Silent SNP T T C TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 X 63411781 63411781 T C SNP AMER1 ENST00000330258 human ensembl 74_37 -1 known silent c.1386 p.E462 0.994 pfam_Uncharacterised_FAM123 pfam_Uncharacterised_FAM123 - no_errors AMER1 HGNC ENSG00000184675 35 0 0 24 3 11.1111 ZCCHC5 0 genome.wustl.edu 37 X 77912605 77912605 + Missense_Mutation SNP C C T TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 X 77912605 77912605 C T SNP ZCCHC5 ENST00000321110 human ensembl 74_37 -1 known missense c.1313 p.R438H 0.000 superfamily_Znf_CCHC pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC5 HGNC ENSG00000179300 47 0 0 12 31 72.093 CHD4 0 genome.wustl.edu 37 12 6711145 6711147 + In_Frame_Del DEL TCC TCC - TCGA-D7-A6F2-01A-12D-A31L-08 TCGA-D7-A6F2-10A-01D-A31J-08 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 914c86d8-1b68-4741-808c-a7dfd65df28e 956de1be-4105-4d0e-8faf-f71eeb07f6b3 12 6711145 6711147 TCC - DEL CHD4 ENST00000309577 human ensembl 74_37 -1 known in_frame_del c.419_417 p.E139in_frame_del 0.961:0.964:0.204 NULL pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,superfamily_Homeodomain-like,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 CHD4 HGNC ENSG00000111642 98 0 0 107 6 5.30973