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 ABCA13 154664 genome.wustl.edu 37 7 48431550 48431550 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 7 48431550 48431550 C T SNP ABCA13 ENST00000435803 human ensembl 70_37 +1 known missense c.11687 p.S3896F 0.391 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ABCC9 10060 genome.wustl.edu 37 12 22061143 22061143 + Silent SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 12 22061143 22061143 G A SNP ABCC9 ENST00000261200 human ensembl 70_37 -1 known silent c.1323 p.I441 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC9 HGNC ABCG2 9429 genome.wustl.edu 37 4 89013433 89013433 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 4 89013433 89013433 G A SNP ABCG2 ENST00000237612 human ensembl 70_37 -1 known missense c.1921 p.L641F 1.000 NULL pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCG2 HGNC ABHD15 116236 genome.wustl.edu 37 17 27893279 27893279 + Missense_Mutation SNP C C G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 17 27893279 27893279 C G SNP ABHD15 ENST00000307201 human ensembl 70_37 -1 known missense c.706 p.E236Q 1.000 pirsf_AB-Hydro_YheT pirsf_AB-Hydro_YheT - no_errors ABHD15 HGNC AOC1 26 genome.wustl.edu 37 7 150554780 150554780 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 7 150554780 150554780 G A SNP ABP1 ENST00000416793 human ensembl 70_37 +1 known missense c.1222 p.D408N 0.347 pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors ABP1 HGNC ACACA 31 genome.wustl.edu 37 17 35656239 35656239 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 17 35656239 35656239 C T SNP ACACA ENST00000360679 human ensembl 70_37 -1 known missense c.19 p.E7K 0.486 NULL pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACA HGNC ADAM7 8756 genome.wustl.edu 37 8 24299985 24299985 + Splice_Site SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 8 24299985 24299985 G A SNP ADAM7 ENST00000175238 human ensembl 70_37 +1 known splice_site c.53-1 e2-1 0.571 - - - no_errors ADAM7 HGNC ADH4 127 genome.wustl.edu 37 4 100047843 100047843 + Silent SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 4 100047843 100047843 G A SNP ADH4 ENST00000423445 human ensembl 70_37 -1 known silent c.1077 p.D359 0.991 superfamily_GroES-like,smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors ADH4 HGNC AKAP7 9465 genome.wustl.edu 37 6 131602687 131602687 + Missense_Mutation SNP G G C TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 6 131602687 131602687 G C SNP AKAP7 ENST00000368123 human ensembl 70_37 +1 known missense c.802 p.E268Q 1.000 pfam_Kinase-A_anchor_RI-RII-bd_dom pfam_Kinase-A_anchor_nucl_local_sig,pfam_Kinase-A_anchor_RI-RII-bd_dom,superfamily_RNA_ligase/cNuc_Pdiesterase - no_errors AKAP7 HGNC AK9 221264 genome.wustl.edu 37 6 109931705 109931705 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 6 109931705 109931705 C T SNP AKD1 ENST00000424296 human ensembl 70_37 -1 known missense c.1705 p.D569N 0.023 NULL pfam_Adenylate_kin,pfam_YHS,smart_AAA+_ATPase - no_errors AKD1 HGNC ANAPC15 25906 genome.wustl.edu 37 11 71821638 71821638 + Silent SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 11 71821638 71821638 G A SNP ANAPC15 ENST00000227618 human ensembl 70_37 -1 known silent c.132 p.I44 0.748 NULL NULL - no_errors ANAPC15 HGNC ANO5 203859 genome.wustl.edu 37 11 22257799 22257799 + Missense_Mutation SNP T T C TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 11 22257799 22257799 T C SNP ANO5 ENST00000324559 human ensembl 70_37 +1 known missense c.739 p.S247P 0.014 NULL pfam_Anoctamin - no_errors ANO5 HGNC API5 8539 genome.wustl.edu 37 11 43350418 43350418 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 11 43350418 43350418 G A SNP API5 ENST00000531273 human ensembl 70_37 +1 known missense c.1102 p.E368K 1.000 pfam_API5,superfamily_ARM-type_fold pfam_API5,superfamily_ARM-type_fold - no_errors API5 HGNC ARHGEF6 9459 genome.wustl.edu 37 X 135762923 135762923 + Silent SNP G G T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 X 135762923 135762923 G T SNP ARHGEF6 ENST00000250617 human ensembl 70_37 -1 known silent c.1671 p.S557 0.945 NULL pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_SM22_calponin - no_errors ARHGEF6 HGNC ATP11C 286410 genome.wustl.edu 37 X 139014191 139014191 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 X 139014191 139014191 C T SNP ATP11C ENST00000370557 human ensembl 70_37 -1 known missense c.11 p.R4Q 0.034 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP11C HGNC C14orf37 145407 genome.wustl.edu 37 14 58604809 58604809 + Missense_Mutation SNP T T A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 14 58604809 58604809 T A SNP C14orf37 ENST00000267485 human ensembl 70_37 -1 known missense c.1268 p.E423V 0.002 NULL NULL - no_errors C14orf37 HGNC C1orf173 127254 genome.wustl.edu 37 1 75038714 75038714 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 1 75038714 75038714 C T SNP C1orf173 ENST00000326665 human ensembl 70_37 -1 known missense c.2680 p.E894K 0.000 NULL NULL - no_errors C1orf173 HGNC C1orf86 199990 genome.wustl.edu 37 1 2116535 2116535 + RNA SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 1 2116535 2116535 G A SNP C1orf86 ENST00000469733 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors C1orf86 HGNC C9orf131 138724 genome.wustl.edu 37 9 35043829 35043829 + Missense_Mutation SNP G G C TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 9 35043829 35043829 G C SNP C9orf131 ENST00000312292 human ensembl 70_37 +1 known missense c.1203 p.E401D 0.000 NULL NULL - no_errors C9orf131 HGNC CACNB3 784 genome.wustl.edu 37 12 49220781 49220781 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 12 49220781 49220781 G A SNP CACNB3 ENST00000301050 human ensembl 70_37 +1 known missense c.1015 p.E339K 1.000 pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,prints_VDCC_L_bsu,prints_VDCC_L_b3su - no_errors CACNB3 HGNC CAPN6 827 genome.wustl.edu 37 X 110494281 110494281 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 X 110494281 110494281 C T SNP CAPN6 ENST00000324068 human ensembl 70_37 -1 known missense c.1022 p.R341H 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_Ca-dep,superfamily_Calpain_domain_III,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_Ca-dep,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN6 HGNC CAPN9 10753 genome.wustl.edu 37 1 230921753 230921753 + Missense_Mutation SNP A A C TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 1 230921753 230921753 A C SNP CAPN9 ENST00000271971 human ensembl 70_37 +1 known missense c.1508 p.D503A 0.933 NULL pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN9 HGNC CCNA1 8900 genome.wustl.edu 37 13 37014270 37014270 + Nonsense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 13 37014270 37014270 C T SNP CCNA1 ENST00000255465 human ensembl 70_37 +1 known nonsense c.1048 p.Q350* 1.000 pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCNA1 HGNC CDH10 1008 genome.wustl.edu 37 5 24535249 24535249 + Silent SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 5 24535249 24535249 G A SNP CDH10 ENST00000264463 human ensembl 70_37 -1 known silent c.786 p.V262 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH10 HGNC CDHR4 389118 genome.wustl.edu 37 3 49831402 49831402 + Silent SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 3 49831402 49831402 G A SNP CDHR4 ENST00000412678 human ensembl 70_37 -1 known silent c.1317 p.N439 0.911 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR4 HGNC CHD3 1107 genome.wustl.edu 37 17 7792996 7792996 + Missense_Mutation SNP C C G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 17 7792996 7792996 C G SNP CHD3 ENST00000330494 human ensembl 70_37 +1 known missense c.115 p.R39G 1.000 NULL pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,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 CHD3 HGNC CHD5 26038 genome.wustl.edu 37 1 6202574 6202574 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 1 6202574 6202574 C T SNP CHD5 ENST00000262450 human ensembl 70_37 -1 known missense c.2135 p.R712H 1.000 pfam_SNF2_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD5 HGNC CLOCK 9575 genome.wustl.edu 37 4 56336954 56336954 + Frame_Shift_Del DEL A A - TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 4 56336954 56336954 A - DEL CLOCK ENST00000309964 human ensembl 70_37 -1 known frame_shift_del c.368 p.L123fs 1.000 pfam_PAS_fold,smart_PAS,pfscan_PAS,prints_Nuc_translocat pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_Nuc_translocat - no_errors CLOCK HGNC CNTN1 1272 genome.wustl.edu 37 12 41327645 41327645 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 12 41327645 41327645 G A SNP CNTN1 ENST00000347616 human ensembl 70_37 +1 known missense c.950 p.G317E 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN1 HGNC CNTNAP5 129684 genome.wustl.edu 37 2 125232323 125232323 + Missense_Mutation SNP T T G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 2 125232323 125232323 T G SNP CNTNAP5 ENST00000431078 human ensembl 70_37 +1 known missense c.926 p.F309C 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC COG4 25839 genome.wustl.edu 37 16 70516653 70516653 + Silent SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 16 70516653 70516653 G A SNP COG4 ENST00000323786 human ensembl 70_37 -1 known silent c.1899 p.S633 0.343 NULL pfam_COG_su4,smart_COG_su4 - no_errors COG4 HGNC COL11A1 1301 genome.wustl.edu 37 1 103343636 103343636 + Missense_Mutation SNP T T G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 1 103343636 103343636 T G SNP COL11A1 ENST00000358392 human ensembl 70_37 -1 known missense c.5396 p.D1799A 1.000 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC COL4A5 1287 genome.wustl.edu 37 X 107936120 107936120 + Silent SNP C C A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 X 107936120 107936120 C A SNP COL4A5 ENST00000328300 human ensembl 70_37 +1 known silent c.4671 p.P1557 0.996 pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A5 HGNC CRBN 51185 genome.wustl.edu 37 3 3215804 3215804 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 3 3215804 3215804 C T SNP CRBN ENST00000231948 human ensembl 70_37 -1 known missense c.316 p.E106K 1.000 pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N - no_errors CRBN HGNC CREB3L4 148327 genome.wustl.edu 37 1 153941559 153941559 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 1 153941559 153941559 C T SNP CREB3L4 ENST00000271889 human ensembl 70_37 +1 known missense c.328 p.P110S 1.000 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors CREB3L4 HGNC CTSS 1520 genome.wustl.edu 37 1 150727516 150727516 + Missense_Mutation SNP G G T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 1 150727516 150727516 G T SNP CTSS ENST00000368985 human ensembl 70_37 -1 known missense c.360 p.D120E 1.000 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSS HGNC CXorf23 256643 genome.wustl.edu 37 X 19973608 19973608 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 X 19973608 19973608 G A SNP CXorf23 ENST00000379687 human ensembl 70_37 -1 known missense c.1351 p.H451Y 1.000 NULL NULL - no_errors CXorf23 HGNC CYP7B1 9420 genome.wustl.edu 37 8 65509246 65509246 + Nonsense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 8 65509246 65509246 G A SNP CYP7B1 ENST00000310193 human ensembl 70_37 -1 known nonsense c.1474 p.Q492* 0.487 superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 - no_errors CYP7B1 HGNC DCHS2 54798 genome.wustl.edu 37 4 155252850 155252850 + Silent SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 4 155252850 155252850 G A SNP DCHS2 ENST00000357232 human ensembl 70_37 -1 known silent c.2250 p.I750 0.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC DECR1 1666 genome.wustl.edu 37 8 91013777 91013777 + Silent SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 8 91013777 91013777 C T SNP DECR1 ENST00000220764 human ensembl 70_37 +1 known silent c.57 p.L19 0.000 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH - no_errors DECR1 HGNC DEFB104A 140596 genome.wustl.edu 37 8 7698576 7698576 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 8 7698576 7698576 G A SNP DEFB104A ENST00000314265 human ensembl 70_37 +1 known missense c.79 p.D27N 0.000 NULL NULL - no_errors DEFB104A HGNC DLG2 1740 genome.wustl.edu 37 11 84996344 84996344 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 11 84996344 84996344 C T SNP DLG2 ENST00000376104 human ensembl 70_37 -1 known missense c.106 p.E36K 1.000 pirsf_M-assoc_guanylate_kinase pfam_PDZ,pfam_Guanylate_kin,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors DLG2 HGNC DLX6 1750 genome.wustl.edu 37 7 96635420 96635421 + In_Frame_Ins INS - - GCC TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 7 96635420 96635421 - GCC INS DLX6 ENST00000518156 human ensembl 70_37 +1 known in_frame_ins c.131_132 p.48in_frame_insP 0.990:1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX6 HGNC DNAJC13 23317 genome.wustl.edu 37 3 132245079 132245079 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 3 132245079 132245079 C T SNP DNAJC13 ENST00000260818 human ensembl 70_37 +1 known missense c.6335 p.A2112V 1.000 superfamily_ARM-type_fold pfam_DnaJ_N,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_N,pfscan_DnaJ_N - no_errors DNAJC13 HGNC DNHD1 144132 genome.wustl.edu 37 11 6567870 6567870 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 11 6567870 6567870 C T SNP DNHD1 ENST00000254579 human ensembl 70_37 +1 known missense c.5701 p.R1901C 0.000 NULL pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_t-SNARE - no_errors DNHD1 HGNC DSN1 79980 genome.wustl.edu 37 20 35384117 35384117 + Missense_Mutation SNP G G T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 20 35384117 35384117 G T SNP DSN1 ENST00000373745 human ensembl 70_37 -1 known missense c.841 p.Q281K 0.744 pfam_Mtw1_DSN1 pfam_Mtw1_DSN1 - no_errors DSN1 HGNC ECHDC2 55268 genome.wustl.edu 37 1 53373550 53373550 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 1 53373550 53373550 C T SNP ECHDC2 ENST00000371522 human ensembl 70_37 -1 known missense c.354 p.M118I 1.000 pfam_Crotonase_core pfam_Crotonase_core - no_errors ECHDC2 HGNC EEF1B2 1933 genome.wustl.edu 37 2 207027539 207027539 + Missense_Mutation SNP G G C TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 2 207027539 207027539 G C SNP EEF1B2 ENST00000236957 human ensembl 70_37 +1 known missense c.610 p.E204Q 1.000 pfam_Transl_elong_fac_EF1B_bsu/dsu,superfamily_Transl_elong_fac_EF1B_bsu/dsu,smart_Transl_elong_fac_EF1B_bsu/dsu pfam_Transl_elong_fac_EF1B_bsu/dsu,pfam_EF-1_beta_acid_region_euk,superfamily_Transl_elong_fac_EF1B_bsu/dsu,superfamily_Glutathione-S-Trfase_C-like,smart_Transl_elong_fac_EF1B_bsu/dsu - no_errors EEF1B2 HGNC EIF4ENIF1 56478 genome.wustl.edu 37 22 31837859 31837859 + Missense_Mutation SNP G G C TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 22 31837859 31837859 G C SNP EIF4ENIF1 ENST00000330125 human ensembl 70_37 -1 known missense c.2452 p.P818A 1.000 NULL pfam_eIF4E_transporter - no_errors EIF4ENIF1 HGNC ELTD1 64123 genome.wustl.edu 37 1 79412053 79412053 + Silent SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 1 79412053 79412053 G A SNP ELTD1 ENST00000370742 human ensembl 70_37 -1 known silent c.231 p.N77 0.990 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors ELTD1 HGNC EMC10 284361 genome.wustl.edu 37 19 50985831 50985831 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 19 50985831 50985831 C T SNP EMC10 ENST00000598585 human ensembl 70_37 +1 putative missense c.962 p.S321F 0.000 NULL NULL - no_errors EMC10 HGNC EML6 400954 genome.wustl.edu 37 2 55074750 55074750 + Missense_Mutation SNP C C G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 2 55074750 55074750 C G SNP EML6 ENST00000356458 human ensembl 70_37 +1 novel missense c.1177 p.L393V 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML6 HGNC ENPP2 5168 genome.wustl.edu 37 8 120581607 120581607 + Missense_Mutation SNP C C G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 8 120581607 120581607 C G SNP ENPP2 ENST00000259486 human ensembl 70_37 -1 known missense c.2077 p.E693Q 1.000 pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENPP2 HGNC ENSG00000228980 0 genome.wustl.edu 37 3 109129036 109129036 + RNA SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 3 109129036 109129036 G A SNP ENSG00000228980 ENST00000489670 human ensembl 70_37 +1 known rna NULL NULL 0.126 - - - no_errors RP11-702L6.4 Clone_based_vega_gene ENSG00000259660 0 genome.wustl.edu 37 15 102303197 102303197 + RNA SNP T T G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 15 102303197 102303197 T G SNP ENSG00000259660 ENST00000561463 human ensembl 70_37 +1 known rna NULL NULL 0.996 - - - no_errors CTD-2611K5.6 Clone_based_vega_gene ENSG00000268678 0 genome.wustl.edu 37 19 57862946 57862946 + RNA SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 19 57862946 57862946 G A SNP ENSG00000268678 ENST00000597973 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CTC-444N24.13 Clone_based_vega_gene EPHA8 2046 genome.wustl.edu 37 1 22903298 22903298 + Missense_Mutation SNP G G C TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 1 22903298 22903298 G C SNP EPHA8 ENST00000166244 human ensembl 70_37 +1 known missense c.748 p.E250Q 1.000 pirsf_Tyr_kinase_ephrin_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA8 HGNC EXPH5 23086 genome.wustl.edu 37 11 108385575 108385575 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 11 108385575 108385575 G A SNP EXPH5 ENST00000265843 human ensembl 70_37 -1 known missense c.659 p.A220V 1.000 NULL superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain - no_errors EXPH5 HGNC FAM83H 286077 genome.wustl.edu 37 8 144811394 144811394 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 8 144811394 144811394 C T SNP FAM83H ENST00000388913 human ensembl 70_37 -1 known missense c.547 p.E183K 1.000 pfam_DUF1669 pfam_DUF1669 - no_errors FAM83H HGNC FAM96B 51647 genome.wustl.edu 37 16 66966114 66966114 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 16 66966114 66966114 G A SNP FAM96B ENST00000422424 human ensembl 70_37 -1 known missense c.484 p.R162C 0.980 NULL pfam_DUF59 - no_errors FAM96B HGNC FBLN1 2192 genome.wustl.edu 37 22 45996325 45996325 + Nonstop_Mutation SNP G G C TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 22 45996325 45996325 G C SNP FBLN1 ENST00000327858 human ensembl 70_37 +1 known nonstop c.2111 p.*704S 1.000 NULL pfam_EGF-like_Ca-bd,pfam_Anaphylatoxin/fibulin,smart_Anaphylatoxin/fibulin,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_Fibulin-1,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN1 HGNC FBXL18 80028 genome.wustl.edu 37 7 5541259 5541259 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 7 5541259 5541259 G A SNP FBXL18 ENST00000453700 human ensembl 70_37 -1 known missense c.641 p.S214L 0.995 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXL18 HGNC FBXL8 55336 genome.wustl.edu 37 16 67197223 67197223 + Missense_Mutation SNP G G C TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 16 67197223 67197223 G C SNP FBXL8 ENST00000258200 human ensembl 70_37 +1 known missense c.625 p.E209Q 0.000 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXL8 HGNC FLOT2 2319 genome.wustl.edu 37 17 27209040 27209040 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 17 27209040 27209040 C T SNP FLOT2 ENST00000394908 human ensembl 70_37 -1 known missense c.706 p.E236K 1.000 smart_Band_7 pfam_Band_7,smart_Band_7 - no_errors FLOT2 HGNC FMR1 2332 genome.wustl.edu 37 X 147010263 147010263 + Silent SNP A A G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 X 147010263 147010263 A G SNP FMR1 ENST00000370475 human ensembl 70_37 +1 known silent c.357 p.K119 1.000 NULL pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FMR1 HGNC FRAS1 80144 genome.wustl.edu 37 4 79188084 79188084 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 4 79188084 79188084 G A SNP FRAS1 ENST00000264895 human ensembl 70_37 +1 known missense c.784 p.G262R 0.147 pfam_VWF_C,smart_VWC_out,smart_VWF_C,pfscan_VWF_C pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC FRMD3 257019 genome.wustl.edu 37 9 85881961 85881961 + Silent SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 9 85881961 85881961 C T SNP FRMD3 ENST00000328788 human ensembl 70_37 -1 known silent c.132 p.L44 1.000 NULL NULL - no_errors FRMD3 HGNC FRMPD3 84443 genome.wustl.edu 37 X 106845065 106845065 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 X 106845065 106845065 G A SNP FRMPD3 ENST00000276185 human ensembl 70_37 +1 known missense c.3895 p.E1299K 0.998 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD3 HGNC FZD2 2535 genome.wustl.edu 37 17 42635857 42635857 + Missense_Mutation SNP G G C TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 17 42635857 42635857 G C SNP FZD2 ENST00000315323 human ensembl 70_37 +1 known missense c.801 p.L267F 1.000 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD2 HGNC FZR1 51343 genome.wustl.edu 37 19 3526310 3526310 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 19 3526310 3526310 G A SNP FZR1 ENST00000395095 human ensembl 70_37 +1 known missense c.313 p.E105K 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FZR1 HGNC GAST 2520 genome.wustl.edu 37 17 39871753 39871753 + Missense_Mutation SNP C C G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 17 39871753 39871753 C G SNP GAST ENST00000329402 human ensembl 70_37 +1 known missense c.65 p.S22C 0.875 pfam_Gastrin pfam_Gastrin,smart_Gastrin - no_errors GAST HGNC GNAS 2778 genome.wustl.edu 37 20 57485827 57485827 + Missense_Mutation SNP C C G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 20 57485827 57485827 C G SNP GNAS ENST00000354359 human ensembl 70_37 +1 known missense c.1131 p.F377L 1.000 pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su - no_errors GNAS HGNC GNL2 29889 genome.wustl.edu 37 1 38032562 38032562 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 1 38032562 38032562 C T SNP GNL2 ENST00000373062 human ensembl 70_37 -1 known missense c.2090 p.R697H 1.000 NULL pfam_NOG2_N_dom,pfam_GTP_binding_domain,prints_GTP_binding_domain - no_errors GNL2 HGNC GPR133 283383 genome.wustl.edu 37 12 131471836 131471836 + Silent SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 12 131471836 131471836 C T SNP GPR133 ENST00000261654 human ensembl 70_37 +1 known silent c.687 p.I229 1.000 superfamily_ConA-like_lec_gl_sf pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR133 HGNC GPR78 27201 genome.wustl.edu 37 4 8583012 8583012 + Silent SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 4 8583012 8583012 C T SNP GPR78 ENST00000382487 human ensembl 70_37 +1 known silent c.303 p.S101 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR78 HGNC GRIP2 80852 genome.wustl.edu 37 3 14548392 14548392 + RNA SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 3 14548392 14548392 C T SNP GRIP2 ENST00000273083 human ensembl 70_37 -1 known rna NULL NULL 0.940 - - - no_errors GRIP2 HGNC GRM5 2915 genome.wustl.edu 37 11 88300848 88300848 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 11 88300848 88300848 C T SNP GRM5 ENST00000305447 human ensembl 70_37 -1 known missense c.2003 p.R668H 1.000 pfam_GPCR_3_C,prints_GPCR_3,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C - no_errors GRM5 HGNC HACE1 57531 genome.wustl.edu 37 6 105232900 105232900 + Nonsense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 6 105232900 105232900 G A SNP HACE1 ENST00000262903 human ensembl 70_37 -1 known nonsense c.1369 p.Q457* 1.000 NULL pfam_HECT,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT,prints_Ankyrin_rpt - no_errors HACE1 HGNC HCLS1 3059 genome.wustl.edu 37 3 121376126 121376126 + Missense_Mutation SNP T T G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 3 121376126 121376126 T G SNP HCLS1 ENST00000314583 human ensembl 70_37 -1 known missense c.158 p.N53T 1.000 NULL pfam_Hs1_Cortactin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_Hs1_Cortactin,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors HCLS1 HGNC HERC2P9 440248 genome.wustl.edu 37 15 28913434 28913434 + RNA SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 15 28913434 28913434 C T SNP HERC2P9 ENST00000528584 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors HERC2P9 HGNC HMMR 3161 genome.wustl.edu 37 5 162910273 162910273 + Splice_Site SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 5 162910273 162910273 G A SNP HMMR ENST00000393915 human ensembl 70_37 +1 known splice_site c.1686-1 e15-1 1.000 - - - no_errors HMMR HGNC IFT81 28981 genome.wustl.edu 37 12 110565221 110565221 + Silent SNP C C G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 12 110565221 110565221 C G SNP IFT81 ENST00000242591 human ensembl 70_37 +1 known silent c.36 p.L12 1.000 NULL NULL - no_errors IFT81 HGNC IL1R2 7850 genome.wustl.edu 37 2 102626319 102626319 + RNA SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 2 102626319 102626319 G A SNP IL1R2 ENST00000464994 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors IL1R2 HGNC ILKAP 80895 genome.wustl.edu 37 2 239103498 239103498 + Silent SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 2 239103498 239103498 C T SNP ILKAP ENST00000254654 human ensembl 70_37 -1 known silent c.69 p.Q23 0.958 NULL pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors ILKAP HGNC ITIH6 347365 genome.wustl.edu 37 X 54784515 54784515 + Silent SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 X 54784515 54784515 C T SNP ITIH6 ENST00000218436 human ensembl 70_37 -1 known silent c.1992 p.V664 0.000 NULL pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH6 HGNC KANK1 23189 genome.wustl.edu 37 9 731244 731244 + Nonsense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 9 731244 731244 C T SNP KANK1 ENST00000382297 human ensembl 70_37 +1 known nonsense c.2983 p.Q995* 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 KCNQ2 3785 genome.wustl.edu 37 20 62076670 62076670 + Silent SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 20 62076670 62076670 G A SNP KCNQ2 ENST00000354587 human ensembl 70_37 -1 known silent c.435 p.I145 1.000 pfam_Ion_trans_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ2 HGNC KDM3B 51780 genome.wustl.edu 37 5 137763729 137763729 + Silent SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 5 137763729 137763729 G A SNP KDM3B ENST00000314358 human ensembl 70_37 +1 known silent c.4707 p.V1569 1.000 smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3B HGNC CEP170B 283638 genome.wustl.edu 37 14 105350257 105350257 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 14 105350257 105350257 G A SNP KIAA0284 ENST00000453495 human ensembl 70_37 +1 known missense c.1144 p.G382R 0.862 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors KIAA0284 HGNC CEP170B 283638 genome.wustl.edu 37 14 105355912 105355912 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 14 105355912 105355912 C T SNP KIAA0284 ENST00000453495 human ensembl 70_37 +1 known missense c.3803 p.S1268F 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors KIAA0284 HGNC KIAA1109 84162 genome.wustl.edu 37 4 123255617 123255617 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 4 123255617 123255617 C T SNP KIAA1109 ENST00000264501 human ensembl 70_37 +1 known missense c.11765 p.S3922F 0.982 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC KIAA1549L 25758 genome.wustl.edu 37 11 33667358 33667358 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 11 33667358 33667358 G A SNP KIAA1549L ENST00000389726 human ensembl 70_37 +1 known missense c.4663 p.E1555K 1.000 NULL NULL - no_errors KIAA1549L HGNC KIF4B 285643 genome.wustl.edu 37 5 154394755 154394755 + Missense_Mutation SNP G G T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 5 154394755 154394755 G T SNP KIF4B ENST00000435029 human ensembl 70_37 +1 known missense c.1336 p.D446Y 0.999 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4B HGNC KLK2 3817 genome.wustl.edu 37 19 51380253 51380253 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 19 51380253 51380253 G A SNP KLK2 ENST00000325321 human ensembl 70_37 +1 known missense c.619 p.D207N 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors KLK2 HGNC KRT5 3852 genome.wustl.edu 37 12 52914024 52914024 + Silent SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 12 52914024 52914024 G A SNP KRT5 ENST00000252242 human ensembl 70_37 -1 known silent c.57 p.T19 0.000 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT5 HGNC LAMC3 10319 genome.wustl.edu 37 9 133924412 133924412 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 9 133924412 133924412 G A SNP LAMC3 ENST00000361069 human ensembl 70_37 +1 known missense c.1525 p.E509K 0.002 pfscan_Laminin_B_type_IV pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC3 HGNC LIMD1 8994 genome.wustl.edu 37 3 45637138 45637138 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 3 45637138 45637138 G A SNP LIMD1 ENST00000273317 human ensembl 70_37 +1 known missense c.767 p.S256N 0.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMD1 HGNC LIN7C 55327 genome.wustl.edu 37 11 27520959 27520959 + Missense_Mutation SNP C C G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 11 27520959 27520959 C G SNP LIN7C ENST00000278193 human ensembl 70_37 -1 known missense c.385 p.D129H 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_Lin-7_homologue,pfscan_PDZ pfam_PDZ,pfam_L27_C,superfamily_PDZ,smart_L27,smart_PDZ,pirsf_Lin-7_homologue,pfscan_L27,pfscan_PDZ - no_errors LIN7C HGNC LINC00304 283860 genome.wustl.edu 37 16 89226822 89226822 + RNA SNP G G T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 16 89226822 89226822 G T SNP LINC00304 ENST00000321214 human ensembl 70_37 +1 known rna NULL NULL 0.401 - - - no_errors LINC00304 HGNC LOC100286922 100286922 genome.wustl.edu 37 2 234663731 234663731 + RNA SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 2 234663731 234663731 C T SNP LOC100286922 ENST00000389816 human ensembl 70_37 -1 known rna NULL NULL 0.234 - - - no_errors AC114812.5 Clone_based_vega_gene LOC284100 284100 genome.wustl.edu 37 17 36233893 36233893 + RNA SNP C C A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 17 36233893 36233893 C A SNP LOC284100 ENST00000590732 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-115K3.2 Clone_based_vega_gene LRRC17 10234 genome.wustl.edu 37 7 102553460 102553460 + RNA SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 7 102553460 102553460 G A SNP LRRC17 ENST00000498487 human ensembl 70_37 +1 putative rna NULL NULL 1.000 - - - no_errors LRRC17 HGNC MAGEL2 54551 genome.wustl.edu 37 15 23890640 23890640 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 15 23890640 23890640 C T SNP MAGEL2 ENST00000532292 human ensembl 70_37 -1 known missense c.441 p.M147I 0.998 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEL2 HGNC MAL2 114569 genome.wustl.edu 37 8 120252534 120252534 + RNA SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 8 120252534 120252534 C T SNP MAL2 ENST00000276681 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MAL2 HGNC MASP1 5648 genome.wustl.edu 37 3 186978566 186978566 + Silent SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 3 186978566 186978566 G A SNP MASP1 ENST00000296280 human ensembl 70_37 -1 known silent c.510 p.F170 0.986 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors MASP1 HGNC MASTL 84930 genome.wustl.edu 37 10 27459156 27459156 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 10 27459156 27459156 C T SNP MASTL ENST00000375940 human ensembl 70_37 +1 known missense c.1268 p.S423L 0.002 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_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_cat_dom - no_errors MASTL HGNC MATN1 4146 genome.wustl.edu 37 1 31194483 31194483 + Silent SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 1 31194483 31194483 C T SNP MATN1 ENST00000373765 human ensembl 70_37 -1 known silent c.210 p.S70 0.016 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Matrilin_coiled-coil_trimer,pfam_EGF-like_Ca-bd,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_VWF_A - no_errors MATN1 HGNC MBTPS1 8720 genome.wustl.edu 37 16 84102009 84102009 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 16 84102009 84102009 C T SNP MBTPS1 ENST00000343411 human ensembl 70_37 -1 known missense c.2006 p.R669K 1.000 NULL pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53,prints_Peptidase_S8_subtilisin-rel - no_errors MBTPS1 HGNC MCHR1 2847 genome.wustl.edu 37 22 41077812 41077812 + Silent SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 22 41077812 41077812 C T SNP MCHR1 ENST00000249016 human ensembl 70_37 +1 known silent c.1149 p.L383 1.000 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH1_rcpt,prints_MCH_rcpt,prints_GPCR_Rhodpsn - no_errors MCHR1 HGNC MIR1469 100302258 genome.wustl.edu 37 15 96876510 96876510 + RNA SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 15 96876510 96876510 C T SNP MIR1469 ENST00000410719 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR1469 HGNC MIR509-3 100126337 genome.wustl.edu 37 X 146341192 146341192 + RNA SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 X 146341192 146341192 G A SNP MIR509-3 ENST00000390725 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR509-3 HGNC MIR890 100126303 genome.wustl.edu 37 X 145075803 145075803 + RNA SNP T T G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 X 145075803 145075803 T G SNP MIR890 ENST00000401256 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR890 HGNC MSANTD2 79684 genome.wustl.edu 37 11 124637698 124637698 + Missense_Mutation SNP C C G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 11 124637698 124637698 C G SNP MSANTD2 ENST00000374979 human ensembl 70_37 -1 known missense c.1054 p.E352Q 1.000 NULL NULL - no_errors MSANTD2 HGNC MSANTD4 84437 genome.wustl.edu 37 11 105881257 105881257 + Missense_Mutation SNP C C A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 11 105881257 105881257 C A SNP MSANTD4 ENST00000301919 human ensembl 70_37 -1 known missense c.388 p.D130Y 1.000 NULL NULL - no_errors MSANTD4 HGNC MTND1P15 100288998 genome.wustl.edu 37 17 22024328 22024328 + RNA SNP C C G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 17 22024328 22024328 C G SNP MTND1P15 ENST00000579693 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors MTND1P15 HGNC MYBPHL 343263 genome.wustl.edu 37 1 109839731 109839731 + Missense_Mutation SNP C C G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 1 109839731 109839731 C G SNP MYBPHL ENST00000357155 human ensembl 70_37 -1 known missense c.511 p.D171H 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYBPHL HGNC MYO15A 51168 genome.wustl.edu 37 17 18064645 18064645 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 17 18064645 18064645 G A SNP MYO15A ENST00000205890 human ensembl 70_37 +1 known missense c.9401 p.R3134Q 1.000 pfam_MyTH4_dom,smart_MyTH4_dom,pfscan_MyTH4_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC N4BP2L1 90634 genome.wustl.edu 37 13 33002135 33002135 + Missense_Mutation SNP G G T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 13 33002135 33002135 G T SNP N4BP2L1 ENST00000380130 human ensembl 70_37 -1 known missense c.85 p.P29T 1.000 NULL pfam_Zeta_toxin_domain - no_errors N4BP2L1 HGNC NAV3 89795 genome.wustl.edu 37 12 78444704 78444704 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 12 78444704 78444704 C T SNP NAV3 ENST00000397909 human ensembl 70_37 +1 known missense c.2293 p.R765C 0.998 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC NDP 4693 genome.wustl.edu 37 X 43809085 43809085 + Missense_Mutation SNP C C A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 X 43809085 43809085 C A SNP NDP ENST00000378062 human ensembl 70_37 -1 known missense c.362 p.R121L 1.000 pfam_Cys_knot,pfam_DAN,smart_Cys_knot_C,pfscan_Cys_knot_C,prints_Norrie_dis pfam_Cys_knot,pfam_DAN,smart_Cys_knot_C,pfscan_Cys_knot_C,prints_Norrie_dis - no_errors NDP HGNC NFASC 23114 genome.wustl.edu 37 1 204985781 204985781 + RNA SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 1 204985781 204985781 G A SNP NFASC ENST00000495396 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors NFASC HGNC NKRF 55922 genome.wustl.edu 37 X 118723425 118723425 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 X 118723425 118723425 C T SNP NKRF ENST00000542113 human ensembl 70_37 -1 known missense c.2008 p.D670N 0.993 pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd pfam_G_patch_dom,pfam_R3H_ss-bd,smart_Ds-RNA-bd,smart_G_patch_dom,smart_R3H_ss-bd,pfscan_G_patch_dom,pfscan_R3H_ss-bd - no_errors NKRF HGNC NOL8 55035 genome.wustl.edu 37 9 95063870 95063870 + Missense_Mutation SNP G G C TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 9 95063870 95063870 G C SNP NOL8 ENST00000442668 human ensembl 70_37 -1 known missense c.3138 p.F1046L 0.998 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors NOL8 HGNC NPM2 10361 genome.wustl.edu 37 8 21882801 21882801 + Silent SNP G G C TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 8 21882801 21882801 G C SNP NPM2 ENST00000397940 human ensembl 70_37 +1 known silent c.42 p.V14 0.000 NULL pfam_Nucleoplasmin,superfamily_Nucleoplasmin_core - no_errors NPM2 HGNC NPY6R 4888 genome.wustl.edu 37 5 137144629 137144629 + RNA SNP G G C TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 5 137144629 137144629 G C SNP NPY6R ENST00000510937 human ensembl 70_37 +1 known rna NULL NULL 0.932 - - - no_errors NPY6R HGNC NTRK2 4915 genome.wustl.edu 37 9 87325597 87325597 + Nonsense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 9 87325597 87325597 G A SNP NTRK2 ENST00000277120 human ensembl 70_37 +1 known nonsense c.474 p.W158* 1.000 smart_Cys-rich_flank_reg_C pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2 - no_errors NTRK2 HGNC NUP188 23511 genome.wustl.edu 37 9 131747281 131747281 + Silent SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 9 131747281 131747281 C T SNP NUP188 ENST00000372577 human ensembl 70_37 +1 known silent c.2064 p.T688 0.993 pfam_Nucleoporin_Nup188 pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC NYNRIN 57523 genome.wustl.edu 37 14 24884524 24884524 + Nonsense_Mutation SNP C C G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 14 24884524 24884524 C G SNP NYNRIN ENST00000382554 human ensembl 70_37 +1 known nonsense c.3569 p.S1190* 1.000 NULL pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors NYNRIN HGNC OBSCN 84033 genome.wustl.edu 37 1 228547607 228547607 + Missense_Mutation SNP G G C TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 1 228547607 228547607 G C SNP OBSCN ENST00000366709 human ensembl 70_37 +1 known missense c.10371 p.K3457N 0.043 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_DH-domain,pfam_Fibronectin_type3,pfam_IQ_motif_EF-hand-BS,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ODF1 4956 genome.wustl.edu 37 8 103564151 103564151 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 8 103564151 103564151 G A SNP ODF1 ENST00000285402 human ensembl 70_37 +1 known missense c.196 p.G66S 0.993 NULL pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom - no_errors ODF1 HGNC OR4E2 26686 genome.wustl.edu 37 14 22133660 22133660 + Missense_Mutation SNP C C G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 14 22133660 22133660 C G SNP OR4E2 ENST00000408935 human ensembl 70_37 +1 known missense c.364 p.R122G 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4E2 HGNC OR8H2 390151 genome.wustl.edu 37 11 55873012 55873012 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 11 55873012 55873012 G A SNP OR8H2 ENST00000313503 human ensembl 70_37 +1 known missense c.494 p.R165K 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H2 HGNC ORM1 5004 genome.wustl.edu 37 9 117085984 117085984 + Nonsense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 9 117085984 117085984 C T SNP ORM1 ENST00000538816 human ensembl 70_37 +1 known nonsense c.571 p.R191* 0.000 NULL NULL - no_errors ORM1 HGNC PATL1 219988 genome.wustl.edu 37 11 59421511 59421511 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 11 59421511 59421511 G A SNP PATL1 ENST00000300146 human ensembl 70_37 -1 known missense c.1066 p.H356Y 1.000 pfam_Topo_II-assoc_PAT1 pfam_Topo_II-assoc_PAT1 - no_errors PATL1 HGNC PCDH17 27253 genome.wustl.edu 37 13 58208055 58208055 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 13 58208055 58208055 G A SNP PCDH17 ENST00000377918 human ensembl 70_37 +1 known missense c.1375 p.A459T 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC PCDH17 27253 genome.wustl.edu 37 13 58298883 58298883 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 13 58298883 58298883 G A SNP PCDH17 ENST00000377918 human ensembl 70_37 +1 known missense c.2935 p.E979K 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC PCDHA4 56144 genome.wustl.edu 37 5 140187459 140187459 + Silent SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 5 140187459 140187459 C T SNP PCDHA4 ENST00000530339 human ensembl 70_37 +1 known silent c.687 p.L229 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA4 HGNC PCDHB8 56128 genome.wustl.edu 37 5 140559550 140559550 + Silent SNP C C G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 5 140559550 140559550 C G SNP PCDHB8 ENST00000239444 human ensembl 70_37 +1 known silent c.1935 p.V645 0.954 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB8 HGNC PCLO 27445 genome.wustl.edu 37 7 82584937 82584937 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 7 82584937 82584937 C T SNP PCLO ENST00000333891 human ensembl 70_37 -1 known missense c.5332 p.E1778K 1.000 NULL pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors PCLO HGNC PCNT 5116 genome.wustl.edu 37 21 47831138 47831138 + Silent SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 21 47831138 47831138 G A SNP PCNT ENST00000359568 human ensembl 70_37 +1 known silent c.5151 p.L1717 0.629 NULL pfam_PACT_domain - no_errors PCNT HGNC PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC PIK3CA 5290 genome.wustl.edu 37 3 178938934 178938934 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 3 178938934 178938934 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.2176 p.E726K 1.000 superfamily_Kinase-like_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC PKHD1 5314 genome.wustl.edu 37 6 51524491 51524491 + Frame_Shift_Del DEL G G - TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 6 51524491 51524491 G - DEL PKHD1 ENST00000371117 human ensembl 70_37 -1 known frame_shift_del c.10433 p.P3478fs 0.986 NULL pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1 - no_errors PKHD1 HGNC PLIN5 440503 genome.wustl.edu 37 19 4525777 4525777 + Silent SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 19 4525777 4525777 G A SNP PLIN5 ENST00000381848 human ensembl 70_37 -1 known silent c.588 p.G196 1.000 pfam_Perilipin,pirsf_Perilipin pfam_Perilipin,pirsf_Perilipin - no_errors PLIN5 HGNC PLP1 5354 genome.wustl.edu 37 X 103041101 103041101 + RNA SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 X 103041101 103041101 G A SNP PLP1 ENST00000476160 human ensembl 70_37 +1 putative rna NULL NULL 0.007 - - - no_errors PLP1 HGNC POLA1 5422 genome.wustl.edu 37 X 24759593 24759593 + Missense_Mutation SNP A A G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 X 24759593 24759593 A G SNP POLA1 ENST00000379068 human ensembl 70_37 +1 known missense c.2318 p.Q773R 1.000 superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_Znf_DNA-dir_DNA_pol_B_alpha,pfam_DNA_pol_a_cat_su_N,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 - no_errors POLA1 HGNC POTEA 340441 genome.wustl.edu 37 8 43173647 43173647 + RNA SNP G G C TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 8 43173647 43173647 G C SNP POTEA ENST00000522175 human ensembl 70_37 +1 known rna NULL NULL 0.085 - - - no_errors POTEA HGNC PRDM9 56979 genome.wustl.edu 37 5 23526496 23526496 + Silent SNP G G T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 5 23526496 23526496 G T SNP PRDM9 ENST00000296682 human ensembl 70_37 +1 known silent c.1299 p.G433 0.007 NULL pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC PRPF40A 55660 genome.wustl.edu 37 2 153526757 153526757 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 2 153526757 153526757 C T SNP PRPF40A ENST00000410080 human ensembl 70_37 -1 known missense c.1618 p.E540K 1.000 pfam_FF_domain,superfamily_FF_domain,smart_FF_domain pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,prints_Antifreeze_1,pfscan_WW_Rsp5_WWP - no_errors PRPF40A HGNC PRPS2 5634 genome.wustl.edu 37 X 12838851 12838851 + Missense_Mutation SNP G G T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 X 12838851 12838851 G T SNP PRPS2 ENST00000398491 human ensembl 70_37 +1 known missense c.802 p.A268S 0.185 tigrfam_Rib-P_diPkinase pfam_PRibTrfase_dom,tigrfam_Rib-P_diPkinase - no_errors PRPS2 HGNC PTGS2 5743 genome.wustl.edu 37 1 186646909 186646909 + Silent SNP T T G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 1 186646909 186646909 T G SNP PTGS2 ENST00000367468 human ensembl 70_37 -1 known silent c.511 p.R171 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors PTGS2 HGNC QSOX2 169714 genome.wustl.edu 37 9 139113694 139113694 + Missense_Mutation SNP C C A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 9 139113694 139113694 C A SNP QSOX2 ENST00000358701 human ensembl 70_37 -1 known missense c.769 p.V257F 0.601 NULL pfam_Evr1_Alr,pfam_Thioredoxin_domain,superfamily_Evr1_Alr,superfamily_Thioredoxin-like_fold - no_errors QSOX2 HGNC RAD21 5885 genome.wustl.edu 37 8 117864207 117864207 + Missense_Mutation SNP C C G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 8 117864207 117864207 C G SNP RAD21 ENST00000297338 human ensembl 70_37 -1 known missense c.1450 p.D484H 1.000 NULL pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu,pfam_ScpA - no_errors RAD21 HGNC RGL2 5863 genome.wustl.edu 37 6 33266252 33266252 + Missense_Mutation SNP C C G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 6 33266252 33266252 C G SNP RGL2 ENST00000497454 human ensembl 70_37 -1 known missense c.136 p.E46Q 1.000 NULL pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL2 HGNC RTKN2 219790 genome.wustl.edu 37 10 64022535 64022535 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 10 64022535 64022535 C T SNP RTKN2 ENST00000373789 human ensembl 70_37 -1 known missense c.106 p.E36K 1.000 superfamily_HR1_rho-bd,smart_HR1_rho-bd pfam_Pleckstrin_homology,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors RTKN2 HGNC RUNX1T1 862 genome.wustl.edu 37 8 93023292 93023292 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 8 93023292 93023292 G A SNP RUNX1T1 ENST00000436581 human ensembl 70_37 -1 known missense c.529 p.H177Y 1.000 pfam_TAFH_NHR1,smart_TAFH_NHR1,pfscan_TAFH_NHR1,prints_ETO pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8 - no_errors RUNX1T1 HGNC S100A14 57402 genome.wustl.edu 37 1 153588400 153588400 + RNA SNP G G C TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 1 153588400 153588400 G C SNP S100A14 ENST00000368700 human ensembl 70_37 -1 known rna NULL NULL 0.361 - - - no_errors S100A14 HGNC SCN1A 6323 genome.wustl.edu 37 2 166894582 166894582 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 2 166894582 166894582 C T SNP SCN1A ENST00000303395 human ensembl 70_37 -1 known missense c.2650 p.G884S 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC SDK2 54549 genome.wustl.edu 37 17 71427680 71427680 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 17 71427680 71427680 G A SNP SDK2 ENST00000392650 human ensembl 70_37 -1 known missense c.1441 p.R481W 0.826 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors SDK2 HGNC SELENBP1 8991 genome.wustl.edu 37 1 151337064 151337064 + Missense_Mutation SNP C C A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 1 151337064 151337064 C A SNP SELENBP1 ENST00000368868 human ensembl 70_37 -1 known missense c.1374 p.E458D 1.000 pfam_Se-bd pfam_Se-bd - no_errors SELENBP1 HGNC SFXN1 94081 genome.wustl.edu 37 5 174940540 174940540 + Missense_Mutation SNP A A C TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 5 174940540 174940540 A C SNP SFXN1 ENST00000321442 human ensembl 70_37 +1 known missense c.671 p.Q224P 1.000 pfam_Mtc,tigrfam_Mtc pfam_Mtc,tigrfam_Mtc - no_errors SFXN1 HGNC SGK223 157285 genome.wustl.edu 37 8 8185888 8185888 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 8 8185888 8185888 C T SNP SGK223 ENST00000330777 human ensembl 70_37 -1 known missense c.2404 p.V802M 0.966 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors SGK223 Uniprot_genename SLC30A5 64924 genome.wustl.edu 37 5 68409018 68409018 + Missense_Mutation SNP G G C TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 5 68409018 68409018 G C SNP SLC30A5 ENST00000396591 human ensembl 70_37 +1 known missense c.499 p.D167H 1.000 NULL pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A5 HGNC SLC4A1 6521 genome.wustl.edu 37 17 42337837 42337837 + Silent SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 17 42337837 42337837 G A SNP SLC4A1 ENST00000262418 human ensembl 70_37 -1 known silent c.420 p.I140 0.991 pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_1,tigrfam_HCO3_transpt_euk - no_errors SLC4A1 HGNC SLC6A17 388662 genome.wustl.edu 37 1 110734758 110734758 + Silent SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 1 110734758 110734758 G A SNP SLC6A17 ENST00000331565 human ensembl 70_37 +1 known silent c.1029 p.T343 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A17 HGNC SLC7A14 57709 genome.wustl.edu 37 3 170204044 170204044 + Silent SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 3 170204044 170204044 G A SNP SLC7A14 ENST00000231706 human ensembl 70_37 -1 known silent c.873 p.A291 1.000 pfam_AA-permease_dom pfam_AA-permease_dom - no_errors SLC7A14 HGNC SMCHD1 23347 genome.wustl.edu 37 18 2738531 2738531 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 18 2738531 2738531 C T SNP SMCHD1 ENST00000320876 human ensembl 70_37 +1 known missense c.3413 p.A1138V 0.998 NULL pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_ATPase-like_ATP-bd,smart_SMC_hinge - no_errors SMCHD1 HGNC SMCHD1 23347 genome.wustl.edu 37 18 2740790 2740790 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 18 2740790 2740790 G A SNP SMCHD1 ENST00000320876 human ensembl 70_37 +1 known missense c.3604 p.D1202N 1.000 NULL pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_ATPase-like_ATP-bd,smart_SMC_hinge - no_errors SMCHD1 HGNC SPAG1 6674 genome.wustl.edu 37 8 101196925 101196925 + Nonsense_Mutation SNP C C G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 8 101196925 101196925 C G SNP SPAG1 ENST00000251809 human ensembl 70_37 +1 known nonsense c.665 p.S222* 0.367 smart_TPR_repeat pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SPAG1 HGNC SPANXN2 494119 genome.wustl.edu 37 X 142795166 142795166 + Missense_Mutation SNP T T G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 X 142795166 142795166 T G SNP SPANXN2 ENST00000370498 human ensembl 70_37 -1 known missense c.512 p.E171A 0.001 NULL pfam_SPANX_prot - no_errors SPANXN2 HGNC SPANXN2 494119 genome.wustl.edu 37 X 142795177 142795177 + Silent SNP T T C TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 X 142795177 142795177 T C SNP SPANXN2 ENST00000370498 human ensembl 70_37 -1 known silent c.501 p.L167 0.004 NULL pfam_SPANX_prot - no_errors SPANXN2 HGNC SPP2 6694 genome.wustl.edu 37 2 234975918 234975918 + Missense_Mutation SNP G G T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 2 234975918 234975918 G T SNP SPP2 ENST00000168148 human ensembl 70_37 +1 known missense c.550 p.G184W 0.898 pfam_Spp-24 pfam_Spp-24,pfam_Prot_inh_cystat - no_errors SPP2 HGNC SPTBN2 6712 genome.wustl.edu 37 11 66461714 66461714 + Nonsense_Mutation SNP C C A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 11 66461714 66461714 C A SNP SPTBN2 ENST00000309996 human ensembl 70_37 -1 known nonsense c.4399 p.E1467* 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN2 HGNC SPTBN2 6712 genome.wustl.edu 37 11 66461724 66461724 + Silent SNP C C G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 11 66461724 66461724 C G SNP SPTBN2 ENST00000309996 human ensembl 70_37 -1 known silent c.4389 p.S1463 0.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN2 HGNC SSPO 23145 genome.wustl.edu 37 7 149515801 149515801 + RNA SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 7 149515801 149515801 G A SNP SSPO ENST00000378016 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SSPO HGNC STAT2 6773 genome.wustl.edu 37 12 56748582 56748582 + Missense_Mutation SNP C C G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 12 56748582 56748582 C G SNP STAT2 ENST00000314128 human ensembl 70_37 -1 known missense c.613 p.E205Q 1.000 pfam_STAT_TF_alpha,superfamily_STAT_TF_coiled-coil pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT2 HGNC TAAR5 9038 genome.wustl.edu 37 6 132910798 132910798 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 6 132910798 132910798 C T SNP TAAR5 ENST00000258034 human ensembl 70_37 -1 known missense c.28 p.E10K 0.065 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Trace_amine_rcpt - no_errors TAAR5 HGNC TAB3 257397 genome.wustl.edu 37 X 30877610 30877610 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 X 30877610 30877610 C T SNP TAB3 ENST00000288422 human ensembl 70_37 -1 known missense c.96 p.M32I 1.000 pfam_CUE,superfamily_UBA-like,smart_CUE,pfscan_CUE pfam_CUE,pfam_Znf_RanBP2,superfamily_UBA-like,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2 - no_errors TAB3 HGNC TAS2R1 50834 genome.wustl.edu 37 5 9629467 9629467 + Silent SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 5 9629467 9629467 C T SNP TAS2R1 ENST00000382492 human ensembl 70_37 -1 known silent c.678 p.A226 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R1 HGNC TFDP3 51270 genome.wustl.edu 37 X 132351492 132351492 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 X 132351492 132351492 C T SNP TFDP3 ENST00000310125 human ensembl 70_37 -1 known missense c.796 p.V266I 1.000 pfam_Transc_factor_DP_C,pirsf_Transcription_factor_DP_subgr pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcription_factor_DP_subgr - no_errors TFDP3 HGNC TIAM1 7074 genome.wustl.edu 37 21 32537340 32537340 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 21 32537340 32537340 G A SNP TIAM1 ENST00000286827 human ensembl 70_37 -1 known missense c.2930 p.A977V 0.064 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC TPR 7175 genome.wustl.edu 37 1 186342529 186342529 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 1 186342529 186342529 C T SNP TPR ENST00000367478 human ensembl 70_37 -1 known missense c.218 p.R73Q 0.994 NULL pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC TRA2B 6434 genome.wustl.edu 37 3 185643310 185643310 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 3 185643310 185643310 C T SNP TRA2B ENST00000453386 human ensembl 70_37 -1 known missense c.275 p.R92K 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TRA2B HGNC TRMT2A 27037 genome.wustl.edu 37 22 20103702 20103702 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 22 20103702 20103702 C T SNP TRMT2A ENST00000252136 human ensembl 70_37 -1 known missense c.458 p.R153K 0.978 NULL pfam_U5_MeTrfase,pfam_PCMT,pfam_Small_mtfrase_dom,pfam_RNA_methylase_dom,pfam_RNA_MeTrfase_RsmD,pfam_Methyltransf_11,pfam_tRNA_(Gua-N-7)_MeTrfase,pfam_UbiE/COQ5_MeTrFase,pfscan_RRM_dom - no_errors TRMT2A HGNC TSC2 7249 genome.wustl.edu 37 16 2131603 2131603 + Silent SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 16 2131603 2131603 C T SNP TSC2 ENST00000219476 human ensembl 70_37 +1 known silent c.3618 p.T1206 0.989 NULL pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin - no_errors TSC2 HGNC TTN 7273 genome.wustl.edu 37 2 179486033 179486033 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 2 179486033 179486033 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.37708 p.E12570K 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTYH1 57348 genome.wustl.edu 37 19 54930395 54930395 + Frame_Shift_Del DEL C C - TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 19 54930395 54930395 C - DEL TTYH1 ENST00000376531 human ensembl 70_37 +1 known frame_shift_del c.220 p.E76fs 0.793 pfam_Tweety pfam_Tweety - no_errors TTYH1 HGNC TTYH1 57348 genome.wustl.edu 37 19 54930396 54930396 + Missense_Mutation SNP C C A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 19 54930396 54930396 C A SNP TTYH1 ENST00000376531 human ensembl 70_37 +1 known missense c.221 p.P74H 0.808 pfam_Tweety pfam_Tweety - no_errors TTYH1 HGNC UGGT1 56886 genome.wustl.edu 37 2 128903520 128903520 + Silent SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 2 128903520 128903520 C T SNP UGGT1 ENST00000259253 human ensembl 70_37 +1 known silent c.1995 p.F665 0.997 NULL pfam_UDP-g_GGtrans - no_errors UGGT1 HGNC UNC13D 201294 genome.wustl.edu 37 17 73831078 73831078 + Nonsense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 17 73831078 73831078 G A SNP UNC13D ENST00000412096 human ensembl 70_37 -1 known nonsense c.1915 p.Q639* 1.000 NULL pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors UNC13D HGNC VEPH1 79674 genome.wustl.edu 37 3 157213060 157213060 + Missense_Mutation SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 3 157213060 157213060 C T SNP VEPH1 ENST00000362010 human ensembl 70_37 -1 known missense c.79 p.E27K 1.000 superfamily_ARM-type_fold pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors VEPH1 HGNC VGLL1 51442 genome.wustl.edu 37 X 135630903 135630903 + Missense_Mutation SNP T T A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 X 135630903 135630903 T A SNP VGLL1 ENST00000370634 human ensembl 70_37 +1 known missense c.370 p.S124T 0.000 NULL pfam_Vg_Tdu,smart_TDU_repeat - no_errors VGLL1 HGNC VSIG1 340547 genome.wustl.edu 37 X 107315938 107315938 + Missense_Mutation SNP A A C TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 X 107315938 107315938 A C SNP VSIG1 ENST00000415430 human ensembl 70_37 +1 known missense c.552 p.Q184H 0.997 smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors VSIG1 HGNC WASH6P 653440 genome.wustl.edu 37 X 155254003 155254003 + RNA SNP T T G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 X 155254003 155254003 T G SNP WASH6P ENST00000461007 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors WASH6P HGNC XIST 7503 genome.wustl.edu 37 X 73042889 73042889 + RNA SNP C C G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 X 73042889 73042889 C G SNP XIST ENST00000429829 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ZNF37A 7587 genome.wustl.edu 37 10 38407509 38407509 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 10 38407509 38407509 G A SNP ZNF37A ENST00000351773 human ensembl 70_37 +1 known missense c.1430 p.R477H 0.027 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF37A HGNC ZNF730 100129543 genome.wustl.edu 37 19 23316967 23316967 + Missense_Mutation SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 19 23316967 23316967 G A SNP ZNF730 ENST00000327867 human ensembl 70_37 +1 known missense c.89 p.R30K 0.040 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF730 HGNC ZNF787 126208 genome.wustl.edu 37 19 56599962 56599962 + Silent SNP G G A TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 19 56599962 56599962 G A SNP ZNF787 ENST00000270459 human ensembl 70_37 -1 known silent c.579 p.L193 0.996 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF787 HGNC ZNF813 126017 genome.wustl.edu 37 19 53993928 53993928 + Silent SNP C C T TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff6778d0-314d-4e6b-abf8-e60c3308c539 eb51413f-8868-4aac-819e-1f6b8931c4c0 19 53993928 53993928 C T SNP ZNF813 ENST00000396403 human ensembl 70_37 +1 known silent c.442 p.L148 0.327 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF813 HGNC