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 ACTN4 81 genome.wustl.edu 37 19 39219695 39219695 + Silent SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 19 39219695 39219695 G A SNP ACTN4 ENST00000252699 human ensembl 70_37 +1 known silent c.2478 p.V826 1.000 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors ACTN4 HGNC ACTN4 81 genome.wustl.edu 37 19 39219695 39219695 + Silent SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 19 39219695 39219695 G A SNP ACTN4 ENST00000252699 human ensembl 70_37 +1 known silent c.2478 p.V826 1.000 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors ACTN4 HGNC ADCY10 55811 genome.wustl.edu 37 1 167791359 167791359 + Missense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 167791359 167791359 C G SNP ADCY10 ENST00000367851 human ensembl 70_37 -1 known missense c.4189 p.E1397Q 1.000 pirsf_Adenylate_cylcase_typ10 pfam_A/G_cyclase,superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase - no_errors ADCY10 HGNC ADCY10 55811 genome.wustl.edu 37 1 167791359 167791359 + Missense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 167791359 167791359 C G SNP ADCY10 ENST00000367851 human ensembl 70_37 -1 known missense c.4189 p.E1397Q 1.000 pirsf_Adenylate_cylcase_typ10 pfam_A/G_cyclase,superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase - no_errors ADCY10 HGNC AHDC1 27245 genome.wustl.edu 37 1 27875174 27875174 + Silent SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 27875174 27875174 C T SNP AHDC1 ENST00000247087 human ensembl 70_37 -1 known silent c.3453 p.Q1151 1.000 NULL NULL - no_errors AHDC1 HGNC AHDC1 27245 genome.wustl.edu 37 1 27875174 27875174 + Silent SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 27875174 27875174 C T SNP AHDC1 ENST00000247087 human ensembl 70_37 -1 known silent c.3453 p.Q1151 1.000 NULL NULL - no_errors AHDC1 HGNC AK2 204 genome.wustl.edu 37 1 33476353 33476353 + RNA SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 33476353 33476353 C T SNP AK2 ENST00000491241 human ensembl 70_37 -1 known rna NULL NULL 0.999 - - - no_errors AK2 HGNC ANKIB1 54467 genome.wustl.edu 37 7 92027863 92027863 + Missense_Mutation SNP A A G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 7 92027863 92027863 A G SNP ANKIB1 ENST00000265742 human ensembl 70_37 +1 known missense c.2870 p.D957G 0.980 NULL pfam_Znf_C6HC,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Znf_RING,smart_Znf_C6HC,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif,pfscan_Znf_RING - no_errors ANKIB1 HGNC ANKIB1 54467 genome.wustl.edu 37 7 92027863 92027863 + Missense_Mutation SNP A A G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 7 92027863 92027863 A G SNP ANKIB1 ENST00000265742 human ensembl 70_37 +1 known missense c.2870 p.D957G 0.980 NULL pfam_Znf_C6HC,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Znf_RING,smart_Znf_C6HC,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif,pfscan_Znf_RING - no_errors ANKIB1 HGNC ARHGEF11 9826 genome.wustl.edu 37 1 156907208 156907208 + Nonsense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 156907208 156907208 G A SNP ARHGEF11 ENST00000368194 human ensembl 70_37 -1 known nonsense c.4273 p.Q1425* 0.330 NULL pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,pfam_Regulat_G_prot_signal,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_DH-domain - no_errors ARHGEF11 HGNC ARHGEF11 9826 genome.wustl.edu 37 1 156907208 156907208 + Nonsense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 156907208 156907208 G A SNP ARHGEF11 ENST00000368194 human ensembl 70_37 -1 known nonsense c.4273 p.Q1425* 0.330 NULL pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,pfam_Regulat_G_prot_signal,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_DH-domain - no_errors ARHGEF11 HGNC ATOH8 84913 genome.wustl.edu 37 2 85982063 85982063 + Missense_Mutation SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 2 85982063 85982063 G C SNP ATOH8 ENST00000306279 human ensembl 70_37 +1 known missense c.751 p.E251Q 1.000 pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors ATOH8 HGNC ATOH8 84913 genome.wustl.edu 37 2 85982063 85982063 + Missense_Mutation SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 2 85982063 85982063 G C SNP ATOH8 ENST00000306279 human ensembl 70_37 +1 known missense c.751 p.E251Q 1.000 pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors ATOH8 HGNC ATP2B4 493 genome.wustl.edu 37 1 203693066 203693066 + Missense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 203693066 203693066 C G SNP ATP2B4 ENST00000357681 human ensembl 70_37 +1 known missense c.3082 p.Q1028E 1.000 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_PMCA pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B4 HGNC ATP5F1 515 genome.wustl.edu 37 1 112002183 112002183 + Missense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 112002183 112002183 G A SNP ATP5F1 ENST00000369722 human ensembl 70_37 +1 known missense c.618 p.M206I 1.000 pfam_ATPase_F0-cplx_bsu_mt pfam_ATPase_F0-cplx_bsu_mt - no_errors ATP5F1 HGNC ATP5F1 515 genome.wustl.edu 37 1 112002183 112002183 + Missense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 112002183 112002183 G A SNP ATP5F1 ENST00000369722 human ensembl 70_37 +1 known missense c.618 p.M206I 1.000 pfam_ATPase_F0-cplx_bsu_mt pfam_ATPase_F0-cplx_bsu_mt - no_errors ATP5F1 HGNC CAPN14 440854 genome.wustl.edu 37 2 31428146 31428146 + Silent SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 2 31428146 31428146 G A SNP CAPN14 ENST00000444918 human ensembl 70_37 -1 known silent c.168 p.I56 0.879 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN14 HGNC CAPS2 84698 genome.wustl.edu 37 12 75765017 75765017 + RNA SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 12 75765017 75765017 C T SNP CAPS2 ENST00000486196 human ensembl 70_37 -1 putative rna NULL NULL 0.011 - - - no_errors CAPS2 HGNC CASP8 841 genome.wustl.edu 37 2 202136259 202136259 + Nonsense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 2 202136259 202136259 C G SNP CASP8 ENST00000358485 human ensembl 70_37 +1 known nonsense c.503 p.S168* 0.992 pfam_DED,superfamily_DEATH-like,smart_DED,pfscan_DED pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP8 HGNC CASP8 841 genome.wustl.edu 37 2 202136259 202136259 + Nonsense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 2 202136259 202136259 C G SNP CASP8 ENST00000358485 human ensembl 70_37 +1 known nonsense c.503 p.S168* 0.992 pfam_DED,superfamily_DEATH-like,smart_DED,pfscan_DED pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP8 HGNC CBFA2T3 863 genome.wustl.edu 37 16 88952492 88952492 + Missense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 16 88952492 88952492 G A SNP CBFA2T3 ENST00000268679 human ensembl 70_37 -1 known missense c.770 p.T257M 0.998 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_MTG16 - no_errors CBFA2T3 HGNC CCDC135 84229 genome.wustl.edu 37 16 57760115 57760115 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 16 57760115 57760115 C T SNP CCDC135 ENST00000360716 human ensembl 70_37 +1 known missense c.1894 p.R632C 1.000 NULL NULL - no_errors CCDC135 HGNC CCDC135 84229 genome.wustl.edu 37 16 57760115 57760115 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 16 57760115 57760115 C T SNP CCDC135 ENST00000360716 human ensembl 70_37 +1 known missense c.1894 p.R632C 1.000 NULL NULL - no_errors CCDC135 HGNC CDH2 1000 genome.wustl.edu 37 18 25570188 25570188 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 18 25570188 25570188 C T SNP CDH2 ENST00000269141 human ensembl 70_37 -1 known missense c.1471 p.V491I 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin - no_errors CDH2 HGNC CDH2 1000 genome.wustl.edu 37 18 25570188 25570188 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 18 25570188 25570188 C T SNP CDH2 ENST00000269141 human ensembl 70_37 -1 known missense c.1471 p.V491I 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin - no_errors CDH2 HGNC CHD7 55636 genome.wustl.edu 37 8 61765871 61765871 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 8 61765871 61765871 C T SNP CHD7 ENST00000307121 human ensembl 70_37 +1 known missense c.6587 p.T2196I 0.005 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC CHD7 55636 genome.wustl.edu 37 8 61765871 61765871 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 8 61765871 61765871 C T SNP CHD7 ENST00000307121 human ensembl 70_37 +1 known missense c.6587 p.T2196I 0.005 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC CHRNA5 1138 genome.wustl.edu 37 15 78882360 78882360 + Missense_Mutation SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 15 78882360 78882360 G C SNP CHRNA5 ENST00000299565 human ensembl 70_37 +1 known missense c.627 p.K209N 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA5 HGNC CHRNA5 1138 genome.wustl.edu 37 15 78882360 78882360 + Missense_Mutation SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 15 78882360 78882360 G C SNP CHRNA5 ENST00000299565 human ensembl 70_37 +1 known missense c.627 p.K209N 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA5 HGNC CLMN 79789 genome.wustl.edu 37 14 95670454 95670454 + Missense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 14 95670454 95670454 C G SNP CLMN ENST00000298912 human ensembl 70_37 -1 known missense c.1232 p.R411T 0.970 NULL pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors CLMN HGNC CLMN 79789 genome.wustl.edu 37 14 95670454 95670454 + Missense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 14 95670454 95670454 C G SNP CLMN ENST00000298912 human ensembl 70_37 -1 known missense c.1232 p.R411T 0.970 NULL pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors CLMN HGNC COL6A6 131873 genome.wustl.edu 37 3 130289750 130289750 + Missense_Mutation SNP T T G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 3 130289750 130289750 T G SNP COL6A6 ENST00000358511 human ensembl 70_37 +1 known missense c.2490 p.D830E 0.446 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC CYTH1 9267 genome.wustl.edu 37 17 76672041 76672041 + Silent SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 17 76672041 76672041 G A SNP CYTH1 ENST00000589296 human ensembl 70_37 -1 putative silent c.174 p.F58 1.000 NULL NULL - no_errors CYTH1 HGNC DDX5 1655 genome.wustl.edu 37 17 62501870 62501870 + Missense_Mutation SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 17 62501870 62501870 G C SNP DDX5 ENST00000578804 human ensembl 70_37 -1 putative missense c.38 p.S13C 0.001 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_P68HR,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX5 HGNC DENND2C 163259 genome.wustl.edu 37 1 115142027 115142027 + Silent SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 115142027 115142027 C T SNP DENND2C ENST00000393274 human ensembl 70_37 -1 known silent c.2151 p.P717 0.298 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2C HGNC DENND2C 163259 genome.wustl.edu 37 1 115142027 115142027 + Silent SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 115142027 115142027 C T SNP DENND2C ENST00000393274 human ensembl 70_37 -1 known silent c.2151 p.P717 0.298 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2C HGNC DERL1 79139 genome.wustl.edu 37 8 124042857 124042857 + Nonsense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 8 124042857 124042857 G A SNP DERL1 ENST00000259512 human ensembl 70_37 -1 known nonsense c.253 p.R85* 1.000 pfam_DER1 pfam_DER1 - no_errors DERL1 HGNC DERL1 79139 genome.wustl.edu 37 8 124042857 124042857 + Nonsense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 8 124042857 124042857 G A SNP DERL1 ENST00000259512 human ensembl 70_37 -1 known nonsense c.253 p.R85* 1.000 pfam_DER1 pfam_DER1 - no_errors DERL1 HGNC DESI1 27351 genome.wustl.edu 37 22 41999352 41999352 + Silent SNP A A G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 22 41999352 41999352 A G SNP DESI1 ENST00000263256 human ensembl 70_37 -1 novel silent c.324 p.C108 1.000 pfam_DUF862_euk pfam_DUF862_euk - no_errors DESI1 HGNC DESI1 27351 genome.wustl.edu 37 22 41999352 41999352 + Silent SNP A A G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 22 41999352 41999352 A G SNP DESI1 ENST00000263256 human ensembl 70_37 -1 novel silent c.324 p.C108 1.000 pfam_DUF862_euk pfam_DUF862_euk - no_errors DESI1 HGNC DNAH10 196385 genome.wustl.edu 37 12 124270380 124270380 + Nonsense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 12 124270380 124270380 C T SNP DNAH10 ENST00000409039 human ensembl 70_37 +1 known nonsense c.1135 p.R379* 0.125 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase - no_errors DNAH10 HGNC DNAH10 196385 genome.wustl.edu 37 12 124270380 124270380 + Nonsense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 12 124270380 124270380 C T SNP DNAH10 ENST00000409039 human ensembl 70_37 +1 known nonsense c.1135 p.R379* 0.125 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase - no_errors DNAH10 HGNC DQX1 165545 genome.wustl.edu 37 2 74751187 74751187 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 2 74751187 74751187 C T SNP DQX1 ENST00000393951 human ensembl 70_37 -1 known missense c.679 p.E227K 0.003 smart_Helicase_ATP-bd pfam_Helicase-assoc_dom,pfam_DUF1605,smart_Helicase_ATP-bd,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd - no_errors DQX1 HGNC DQX1 165545 genome.wustl.edu 37 2 74751187 74751187 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 2 74751187 74751187 C T SNP DQX1 ENST00000393951 human ensembl 70_37 -1 known missense c.679 p.E227K 0.003 smart_Helicase_ATP-bd pfam_Helicase-assoc_dom,pfam_DUF1605,smart_Helicase_ATP-bd,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd - no_errors DQX1 HGNC EHMT1 79813 genome.wustl.edu 37 9 140669695 140669695 + Missense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 9 140669695 140669695 C G SNP EHMT1 ENST00000460843 human ensembl 70_37 +1 known missense c.1782 p.F594L 1.000 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT1 HGNC EHMT1 79813 genome.wustl.edu 37 9 140669695 140669695 + Missense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 9 140669695 140669695 C G SNP EHMT1 ENST00000460843 human ensembl 70_37 +1 known missense c.1782 p.F594L 1.000 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT1 HGNC ENSG00000202438 0 genome.wustl.edu 37 6 130895150 130895150 + RNA SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 6 130895150 130895150 G C SNP ENSG00000202438 ENST00000365568 human ensembl 70_37 -1 novel rna NULL NULL 0.022 - - - no_errors Y_RNA RFAM ENSG00000207501 0 genome.wustl.edu 37 1 148241519 148241519 + RNA SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 148241519 148241519 G A SNP ENSG00000207501 ENST00000384770 human ensembl 70_37 +1 novel rna NULL NULL 0.002 - - - no_errors U1 RFAM ENSG00000213279 0 genome.wustl.edu 37 22 49966751 49966751 + RNA SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 22 49966751 49966751 G C SNP ENSG00000213279 ENST00000393264 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP1-29C18.9 Clone_based_vega_gene ENSG00000215749 0 genome.wustl.edu 37 15 82934851 82934851 + Silent SNP T T C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 15 82934851 82934851 T C SNP ENSG00000215749 ENST00000426571 human ensembl 70_37 -1 known silent c.687 p.L229 0.799 NULL NULL - no_errors RP13-996F3.5 Clone_based_vega_gene ENSG00000223779 0 genome.wustl.edu 37 1 149261469 149261469 + RNA SNP T T G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 149261469 149261469 T G SNP ENSG00000223779 ENST00000325963 human ensembl 70_37 +1 known rna NULL NULL 0.930 - - - no_errors RP11-403I13.4 Clone_based_vega_gene ENSG00000227007 0 genome.wustl.edu 37 2 6514589 6514590 + RNA INS - - A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 2 6514589 6514590 - A INS ENSG00000227007 ENST00000448901 human ensembl 70_37 -1 known rna NULL NULL 0.004:0.006 - - - no_errors AC105253.1 Clone_based_vega_gene ENSG00000227410 0 genome.wustl.edu 37 9 71736638 71736638 + RNA SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 9 71736638 71736638 C T SNP ENSG00000227410 ENST00000413932 human ensembl 70_37 +1 putative rna NULL NULL 0.770 - - - no_errors RP11-265B8.4 Clone_based_vega_gene ENSG00000230021 0 genome.wustl.edu 37 1 647148 647148 + RNA SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 647148 647148 C G SNP ENSG00000230021 ENST00000419394 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP5-857K21.4 Clone_based_vega_gene ENSG00000230333 0 genome.wustl.edu 37 7 11559789 11559789 + RNA SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 7 11559789 11559789 G A SNP ENSG00000230333 ENST00000445839 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC004538.3 Clone_based_vega_gene ENSG00000230782 0 genome.wustl.edu 37 9 109737169 109737169 + RNA SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 9 109737169 109737169 C T SNP ENSG00000230782 ENST00000439901 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-508N12.2 Clone_based_vega_gene ENSG00000231083 0 genome.wustl.edu 37 2 8763013 8763013 + RNA SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 2 8763013 8763013 G C SNP ENSG00000231083 ENST00000425678 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC011747.6 Clone_based_vega_gene ENSG00000231196 0 genome.wustl.edu 37 1 147763200 147763200 + RNA SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 147763200 147763200 G C SNP ENSG00000231196 ENST00000434245 human ensembl 70_37 -1 known rna NULL NULL 0.193 - - - no_errors RP11-495P10.8 Clone_based_vega_gene ENSG00000235994 0 genome.wustl.edu 37 6 168377051 168377051 + RNA SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 6 168377051 168377051 G C SNP ENSG00000235994 ENST00000538528 human ensembl 70_37 -1 known rna NULL NULL 0.355 - - - no_errors RP3-470B24.5 Clone_based_vega_gene ENSG00000238994 0 genome.wustl.edu 37 9 140315619 140315619 + RNA SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 9 140315619 140315619 G A SNP ENSG00000238994 ENST00000458861 human ensembl 70_37 +1 novel rna NULL NULL 0.036 - - - no_errors snoU13 RFAM ENSG00000242653 0 genome.wustl.edu 37 7 34793237 34793237 + RNA SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 7 34793237 34793237 G C SNP ENSG00000242653 ENST00000478131 human ensembl 70_37 +1 novel rna NULL NULL 0.001 - - - no_errors Metazoa_SRP RFAM ENSG00000250069 0 genome.wustl.edu 37 5 139582271 139582271 + RNA SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 5 139582271 139582271 G C SNP ENSG00000250069 ENST00000508713 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors CTB-131B5.2 Clone_based_vega_gene ENSG00000250453 0 genome.wustl.edu 37 5 28809279 28809279 + RNA SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 5 28809279 28809279 C T SNP ENSG00000250453 ENST00000504398 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CTD-2134P3.1 Clone_based_vega_gene ENSG00000254095 0 genome.wustl.edu 37 8 31196731 31196731 + RNA SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 8 31196731 31196731 C T SNP ENSG00000254095 ENST00000524017 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-566H8.2 Clone_based_vega_gene ENSG00000254532 0 genome.wustl.edu 37 11 30065934 30065934 + RNA SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 11 30065934 30065934 C T SNP ENSG00000254532 ENST00000527819 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-624D11.2 Clone_based_vega_gene ENSG00000257060 0 genome.wustl.edu 37 15 94039493 94039493 + RNA SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 15 94039493 94039493 G C SNP ENSG00000257060 ENST00000556519 human ensembl 70_37 +1 known rna NULL NULL 0.033 - - - no_errors RP11-266O8.1 Clone_based_vega_gene ENSG00000257228 0 genome.wustl.edu 37 12 41867287 41867287 + RNA SNP G G T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 12 41867287 41867287 G T SNP ENSG00000257228 ENST00000547168 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-413B19.2 Clone_based_vega_gene ENSG00000258383 0 genome.wustl.edu 37 14 99791163 99791163 + RNA SNP A A T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 14 99791163 99791163 A T SNP ENSG00000258383 ENST00000555595 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2200A16.1 Clone_based_vega_gene ENSG00000259197 0 genome.wustl.edu 37 9 102068876 102068876 + Missense_Mutation SNP G G T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 9 102068876 102068876 G T SNP ENSG00000259197 ENST00000409686 human ensembl 70_37 +1 known missense c.1483 p.D495Y 1.000 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT8P11 Uniprot_genename ENSG00000260398 0 genome.wustl.edu 37 8 79520545 79520545 + RNA SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 8 79520545 79520545 C G SNP ENSG00000260398 ENST00000565862 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors RP11-594N15.3 Clone_based_vega_gene ENSG00000260711 0 genome.wustl.edu 37 14 92225683 92225683 + RNA SNP C C A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 14 92225683 92225683 C A SNP ENSG00000260711 ENST00000565058 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-747H7.3 Clone_based_vega_gene ENSG00000260917 0 genome.wustl.edu 37 10 114586234 114586234 + RNA SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 10 114586234 114586234 G A SNP ENSG00000260917 ENST00000564352 human ensembl 70_37 +1 known rna NULL NULL 0.017 - - - no_errors RP11-57H14.4 Clone_based_vega_gene ENSG00000261253 0 genome.wustl.edu 37 16 89391072 89391072 + RNA SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 16 89391072 89391072 C T SNP ENSG00000261253 ENST00000562995 human ensembl 70_37 +1 known rna NULL NULL 0.020 - - - no_errors AC137932.6 Clone_based_vega_gene ENSG00000261253 0 genome.wustl.edu 37 16 89391419 89391419 + RNA SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 16 89391419 89391419 C G SNP ENSG00000261253 ENST00000562995 human ensembl 70_37 +1 known rna NULL NULL 0.006 - - - no_errors AC137932.6 Clone_based_vega_gene ENSG00000261368 0 genome.wustl.edu 37 10 52724049 52724049 + RNA SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 10 52724049 52724049 C T SNP ENSG00000261368 ENST00000561565 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors RP11-96B5.4 Clone_based_vega_gene ENSG00000261400 0 genome.wustl.edu 37 19 32081958 32081958 + RNA SNP T T C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 19 32081958 32081958 T C SNP ENSG00000261400 ENST00000562167 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC011525.2 Clone_based_vega_gene ENSG00000261770 0 genome.wustl.edu 37 19 28251724 28251724 + RNA SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 19 28251724 28251724 C G SNP ENSG00000261770 ENST00000562493 human ensembl 70_37 -1 known rna NULL NULL 0.297 - - - no_errors CTC-459F4.1 Clone_based_vega_gene ENSG00000266378 0 genome.wustl.edu 37 17 14232701 14232702 + RNA INS - - G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 17 14232701 14232702 - G INS ENSG00000266378 ENST00000584683 human ensembl 70_37 +1 known rna NULL NULL 0.001:0.001 - - - no_errors RP11-214O1.3 Clone_based_vega_gene ENSG00000268333 0 genome.wustl.edu 37 20 57411560 57411560 + RNA SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 20 57411560 57411560 C G SNP ENSG00000268333 ENST00000601795 human ensembl 70_37 -1 putative rna NULL NULL 0.413 - - - no_errors RP4-806M20.3 Clone_based_vega_gene EXOC3L4 91828 genome.wustl.edu 37 14 103566829 103566829 + Silent SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 14 103566829 103566829 G C SNP EXOC3L4 ENST00000380069 human ensembl 70_37 +1 known silent c.273 p.L91 0.000 NULL pfam_Sec6 - no_errors EXOC3L4 HGNC FAM129A 116496 genome.wustl.edu 37 1 184764870 184764870 + Silent SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 184764870 184764870 G C SNP FAM129A ENST00000367511 human ensembl 70_37 -1 known silent c.2028 p.L676 0.000 NULL NULL - no_errors FAM129A HGNC FAM182B 728882 genome.wustl.edu 37 20 25847936 25847936 + RNA SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 20 25847936 25847936 C T SNP FAM182B ENST00000424021 human ensembl 70_37 -1 known rna NULL NULL 0.056 - - - no_errors FAM182B HGNC FAT3 120114 genome.wustl.edu 37 11 92086050 92086050 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 11 92086050 92086050 C T SNP FAT3 ENST00000298047 human ensembl 70_37 +1 known missense c.772 p.R258C 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC FAT3 120114 genome.wustl.edu 37 11 92088452 92088452 + Silent SNP T T C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 11 92088452 92088452 T C SNP FAT3 ENST00000298047 human ensembl 70_37 +1 known silent c.3174 p.I1058 0.994 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC FAT3 120114 genome.wustl.edu 37 11 92088452 92088452 + Silent SNP T T C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 11 92088452 92088452 T C SNP FAT3 ENST00000298047 human ensembl 70_37 +1 known silent c.3174 p.I1058 0.994 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC FLG 2312 genome.wustl.edu 37 1 152278555 152278555 + Missense_Mutation SNP T T C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 152278555 152278555 T C SNP FLG ENST00000368799 human ensembl 70_37 -1 known missense c.8807 p.D2936G 0.001 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC FLJ26245 400533 genome.wustl.edu 37 16 34982740 34982740 + RNA SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 16 34982740 34982740 G A SNP FLJ26245 ENST00000565625 human ensembl 70_37 +1 known rna NULL NULL 0.692 - - - no_errors RP11-352B15.1 Clone_based_vega_gene FRMPD2 143162 genome.wustl.edu 37 10 49383976 49383976 + Missense_Mutation SNP T T C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 10 49383976 49383976 T C SNP FRMPD2 ENST00000374201 human ensembl 70_37 -1 known missense c.2902 p.I968V 0.060 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam - no_errors FRMPD2 HGNC GGT3P 2679 genome.wustl.edu 37 22 18830883 18830883 + RNA SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 22 18830883 18830883 G A SNP GGT3P ENST00000445651 human ensembl 70_37 -1 known rna NULL NULL 0.094 - - - no_errors GGT3P HGNC GINS2 51659 genome.wustl.edu 37 16 85722474 85722474 + Nonsense_Mutation SNP C C A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 16 85722474 85722474 C A SNP GINS2 ENST00000253462 human ensembl 70_37 -1 known nonsense c.31 p.E11* 1.000 pirsf_GINS_Psf2_subgr pfam_GINS_complex,pirsf_GINS_Psf2_subgr - no_errors GINS2 HGNC GOLGB1 2804 genome.wustl.edu 37 3 121414091 121414091 + Missense_Mutation SNP T T G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 3 121414091 121414091 T G SNP GOLGB1 ENST00000340645 human ensembl 70_37 -1 known missense c.5264 p.E1755A 1.000 smart_Leu_zip_homeo superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC GPR126 57211 genome.wustl.edu 37 6 142737195 142737195 + Missense_Mutation SNP G G T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 6 142737195 142737195 G T SNP GPR126 ENST00000367609 human ensembl 70_37 +1 known missense c.2932 p.G978C 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_CUB,pfam_GPS_dom,pfam_Pentaxin,superfamily_CUB,superfamily_ConA-like_lec_gl_sf,smart_CUB,smart_Pentaxin,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR126 HGNC GPR126 57211 genome.wustl.edu 37 6 142737195 142737195 + Missense_Mutation SNP G G T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 6 142737195 142737195 G T SNP GPR126 ENST00000367609 human ensembl 70_37 +1 known missense c.2932 p.G978C 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_CUB,pfam_GPS_dom,pfam_Pentaxin,superfamily_CUB,superfamily_ConA-like_lec_gl_sf,smart_CUB,smart_Pentaxin,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR126 HGNC GRIN2A 2903 genome.wustl.edu 37 16 9858383 9858383 + Silent SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 16 9858383 9858383 C T SNP GRIN2A ENST00000330684 human ensembl 70_37 -1 known silent c.3018 p.A1006 0.109 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC GRIN2A 2903 genome.wustl.edu 37 16 9858383 9858383 + Silent SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 16 9858383 9858383 C T SNP GRIN2A ENST00000330684 human ensembl 70_37 -1 known silent c.3018 p.A1006 0.109 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC GUF1 60558 genome.wustl.edu 37 4 44691410 44691410 + Silent SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 4 44691410 44691410 C T SNP GUF1 ENST00000281543 human ensembl 70_37 +1 known silent c.1186 p.L396 0.546 superfamily_Elongation_fac_G/III/V,tigrfam_EF-4 pfam_EF_GTP-bd_dom,pfam_LepA_GTP-bd_C,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Small_GTPase,superfamily_Elongation_fac_G/III/V,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom,tigrfam_EF-4,tigrfam_Small_GTP-bd_dom - no_errors GUF1 HGNC GUF1 60558 genome.wustl.edu 37 4 44691410 44691410 + Silent SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 4 44691410 44691410 C T SNP GUF1 ENST00000281543 human ensembl 70_37 +1 known silent c.1186 p.L396 0.546 superfamily_Elongation_fac_G/III/V,tigrfam_EF-4 pfam_EF_GTP-bd_dom,pfam_LepA_GTP-bd_C,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Small_GTPase,superfamily_Elongation_fac_G/III/V,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom,tigrfam_EF-4,tigrfam_Small_GTP-bd_dom - no_errors GUF1 HGNC HEXA 3073 genome.wustl.edu 37 15 72638962 72638962 + Silent SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 15 72638962 72638962 G A SNP HEXA ENST00000268097 human ensembl 70_37 -1 known silent c.1236 p.F412 1.000 pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_20_cat-core,pfam_Glyco_hydro_20b,superfamily_Glycoside_hydrolase_SF,prints_Beta_hexosaminidase_sua/sub - no_errors HEXA HGNC IPO13 9670 genome.wustl.edu 37 1 44433064 44433064 + Silent SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 44433064 44433064 C T SNP IPO13 ENST00000372343 human ensembl 70_37 +1 known silent c.2691 p.F897 1.000 NULL pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO13 HGNC IPO13 9670 genome.wustl.edu 37 1 44433064 44433064 + Silent SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 44433064 44433064 C T SNP IPO13 ENST00000372343 human ensembl 70_37 +1 known silent c.2691 p.F897 1.000 NULL pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO13 HGNC IQSEC2 23096 genome.wustl.edu 37 X 53278057 53278057 + Missense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 X 53278057 53278057 C G SNP IQSEC2 ENST00000396435 human ensembl 70_37 -1 known missense c.2305 p.E769Q 1.000 pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_Sec7 pfam_Sec7,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7 - no_errors IQSEC2 HGNC IQSEC2 23096 genome.wustl.edu 37 X 53278057 53278057 + Missense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 X 53278057 53278057 C G SNP IQSEC2 ENST00000396435 human ensembl 70_37 -1 known missense c.2305 p.E769Q 1.000 pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_Sec7 pfam_Sec7,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7 - no_errors IQSEC2 HGNC KCNIP4 80333 genome.wustl.edu 37 4 21731537 21731537 + RNA SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 4 21731537 21731537 G A SNP KCNIP4 ENST00000512102 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors KCNIP4 HGNC KCNJ14 3770 genome.wustl.edu 37 19 48965011 48965011 + Silent SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 19 48965011 48965011 C T SNP KCNJ14 ENST00000342291 human ensembl 70_37 +1 known silent c.30 p.L10 0.029 NULL pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir - no_errors KCNJ14 HGNC KDM4B 23030 genome.wustl.edu 37 19 5135504 5135504 + Missense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 19 5135504 5135504 C G SNP KDM4B ENST00000159111 human ensembl 70_37 +1 known missense c.2240 p.S747C 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4B HGNC KDM4B 23030 genome.wustl.edu 37 19 5135504 5135504 + Missense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 19 5135504 5135504 C G SNP KDM4B ENST00000159111 human ensembl 70_37 +1 known missense c.2240 p.S747C 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4B HGNC KLK3 354 genome.wustl.edu 37 19 51361307 51361307 + Missense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 19 51361307 51361307 C G SNP KLK3 ENST00000326003 human ensembl 70_37 +1 known missense c.229 p.R77G 0.190 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors KLK3 HGNC LAMP3 27074 genome.wustl.edu 37 3 182880495 182880495 + RNA SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 3 182880495 182880495 C G SNP LAMP3 ENST00000486686 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LAMP3 HGNC LINC00200 399706 genome.wustl.edu 37 10 1210607 1210607 + RNA SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 10 1210607 1210607 C T SNP LINC00200 ENST00000425630 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors LINC00200 HGNC LINC00324 284029 genome.wustl.edu 37 17 8126238 8126238 + RNA SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 17 8126238 8126238 C T SNP LINC00324 ENST00000315707 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00324 HGNC LINC00511 400619 genome.wustl.edu 37 17 70400718 70400718 + RNA SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 17 70400718 70400718 C T SNP LINC00511 ENST00000457958 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00511 HGNC LNP1 348801 genome.wustl.edu 37 3 100170714 100170714 + Missense_Mutation SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 3 100170714 100170714 G C SNP LNP1 ENST00000383693 human ensembl 70_37 +1 known missense c.308 p.R103T 0.991 NULL NULL - no_errors LNP1 HGNC LNP1 348801 genome.wustl.edu 37 3 100170714 100170714 + Missense_Mutation SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 3 100170714 100170714 G C SNP LNP1 ENST00000383693 human ensembl 70_37 +1 known missense c.308 p.R103T 0.991 NULL NULL - no_errors LNP1 HGNC LOC100505550 100505550 genome.wustl.edu 37 6 37513563 37513563 + RNA SNP C C A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 6 37513563 37513563 C A SNP LOC100505550 ENST00000445172 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP1-153P14.3 Clone_based_vega_gene LOC100506303 100506303 genome.wustl.edu 37 14 19656218 19656218 + RNA SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 14 19656218 19656218 C T SNP LOC100506303 ENST00000418499 human ensembl 70_37 +1 known rna NULL NULL 0.047 - - - no_errors AL589743.1 Clone_based_vega_gene LOC100653005 100653005 genome.wustl.edu 37 6 33884079 33884079 + RNA SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 6 33884079 33884079 C T SNP LOC100653005 ENST00000530000 human ensembl 70_37 +1 known rna NULL NULL 0.026 - - - no_errors RP3-468B3.2 Clone_based_vega_gene LOC574538 574538 genome.wustl.edu 37 12 251277 251277 + RNA SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 12 251277 251277 C T SNP LOC574538 ENST00000505893 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-598F7.4 Clone_based_vega_gene LOC643837 643837 genome.wustl.edu 37 1 789144 789144 + RNA SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 789144 789144 G C SNP LOC643837 ENST00000445118 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-206L10.11 Clone_based_vega_gene LOC654433 654433 genome.wustl.edu 37 2 113993935 113993935 + RNA SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 2 113993935 113993935 G A SNP LOC654433 ENST00000436293 human ensembl 70_37 +1 known rna NULL NULL 0.274 - - - no_errors AC016683.6 Clone_based_vega_gene LRP11 84918 genome.wustl.edu 37 6 150157417 150157417 + Missense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 6 150157417 150157417 C G SNP LRP11 ENST00000239367 human ensembl 70_37 -1 known missense c.1056 p.K352N 0.602 NULL pfam_MANSC_N,pfam_LDrepeatLR_classA_rpt,superfamily_PKD_dom,superfamily_LDrepeatLR_classA_rpt,smart_MANSC_N,smart_PKD/Chitinase_dom,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_MANSC,pfscan_PKD_dom - no_errors LRP11 HGNC LRP11 84918 genome.wustl.edu 37 6 150157417 150157417 + Missense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 6 150157417 150157417 C G SNP LRP11 ENST00000239367 human ensembl 70_37 -1 known missense c.1056 p.K352N 0.602 NULL pfam_MANSC_N,pfam_LDrepeatLR_classA_rpt,superfamily_PKD_dom,superfamily_LDrepeatLR_classA_rpt,smart_MANSC_N,smart_PKD/Chitinase_dom,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_MANSC,pfscan_PKD_dom - no_errors LRP11 HGNC MAGI2-AS3 100505881 genome.wustl.edu 37 7 79088737 79088737 + RNA SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 7 79088737 79088737 C G SNP MAGI2-AS3 ENST00000424477 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MAGI2-AS3 HGNC MALAT1 378938 genome.wustl.edu 37 11 65268741 65268742 + RNA INS - - C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 11 65268741 65268742 - C INS MALAT1 ENST00000534336 human ensembl 70_37 +1 known rna NULL NULL 1.000:1.000 - - - no_errors MALAT1 HGNC MALAT1 378938 genome.wustl.edu 37 11 65268741 65268742 + RNA INS - - C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 11 65268741 65268742 - C INS MALAT1 ENST00000534336 human ensembl 70_37 +1 known rna NULL NULL 1.000:1.000 - - - no_errors MALAT1 HGNC MAN1B1 11253 genome.wustl.edu 37 9 139998224 139998224 + RNA SNP A A G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 9 139998224 139998224 A G SNP MAN1B1 ENST00000540391 human ensembl 70_37 +1 known rna NULL NULL 0.570 - - - no_errors MAN1B1 HGNC MAP3K14 9020 genome.wustl.edu 37 17 43351847 43351847 + RNA SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 17 43351847 43351847 G A SNP MAP3K14 ENST00000344686 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors MAP3K14 HGNC MAP3K14 9020 genome.wustl.edu 37 17 43351847 43351847 + RNA SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 17 43351847 43351847 G A SNP MAP3K14 ENST00000344686 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors MAP3K14 HGNC MARCKS 4082 genome.wustl.edu 37 6 114181151 114181151 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 6 114181151 114181151 C T SNP MARCKS ENST00000368635 human ensembl 70_37 +1 known missense c.395 p.S132L 0.996 pfam_MARCKS pfam_MARCKS,prints_MARCKS - no_errors MARCKS HGNC MBD3L5 284428 genome.wustl.edu 37 19 7030637 7030637 + Silent SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 19 7030637 7030637 G A SNP MBD3L5 ENST00000329753 human ensembl 70_37 +1 known silent c.15 p.A5 0.000 NULL NULL - no_errors MBD3L5 HGNC MCM7 4176 genome.wustl.edu 37 7 99696993 99696993 + Nonsense_Mutation SNP C C A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 7 99696993 99696993 C A SNP MCM7 ENST00000303887 human ensembl 70_37 -1 known nonsense c.310 p.E104* 1.000 superfamily_NA-bd_OB-fold-like pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase,prints_MCM_7,prints_MCM_4 - no_errors MCM7 HGNC MCM7 4176 genome.wustl.edu 37 7 99696993 99696993 + Nonsense_Mutation SNP C C A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 7 99696993 99696993 C A SNP MCM7 ENST00000303887 human ensembl 70_37 -1 known nonsense c.310 p.E104* 1.000 superfamily_NA-bd_OB-fold-like pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase,prints_MCM_7,prints_MCM_4 - no_errors MCM7 HGNC MED1 5469 genome.wustl.edu 37 17 37604118 37604118 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 17 37604118 37604118 C T SNP MED1 ENST00000300651 human ensembl 70_37 -1 known missense c.65 p.R22Q 1.000 NULL pfam_Mediator_Med1_met/fun - no_errors MED1 HGNC MED1 5469 genome.wustl.edu 37 17 37604118 37604118 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 17 37604118 37604118 C T SNP MED1 ENST00000300651 human ensembl 70_37 -1 known missense c.65 p.R22Q 1.000 NULL pfam_Mediator_Med1_met/fun - no_errors MED1 HGNC MGAT4C 25834 genome.wustl.edu 37 12 86373207 86373207 + Nonsense_Mutation SNP C C A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 12 86373207 86373207 C A SNP MGAT4C ENST00000393205 human ensembl 70_37 -1 known nonsense c.1384 p.G462* 1.000 NULL pfam_Glyco_transf_54,superfamily_LSM_dom - no_errors MGAT4C HGNC MGAT4C 25834 genome.wustl.edu 37 12 86373207 86373207 + Nonsense_Mutation SNP C C A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 12 86373207 86373207 C A SNP MGAT4C ENST00000393205 human ensembl 70_37 -1 known nonsense c.1384 p.G462* 1.000 NULL pfam_Glyco_transf_54,superfamily_LSM_dom - no_errors MGAT4C HGNC MIMT1 100073347 genome.wustl.edu 37 19 57352729 57352729 + RNA SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 19 57352729 57352729 C T SNP MIMT1 ENST00000597105 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MIMT1 HGNC MIR4664 100616318 genome.wustl.edu 37 8 144815256 144815256 + RNA SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 8 144815256 144815256 G C SNP MIR4664 ENST00000583819 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR4664 HGNC MON2 23041 genome.wustl.edu 37 12 62895398 62895398 + Missense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 12 62895398 62895398 G A SNP MON2 ENST00000393630 human ensembl 70_37 +1 known missense c.709 p.G237S 1.000 superfamily_ARM-type_fold pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold - no_errors MON2 HGNC MON2 23041 genome.wustl.edu 37 12 62895398 62895398 + Missense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 12 62895398 62895398 G A SNP MON2 ENST00000393630 human ensembl 70_37 +1 known missense c.709 p.G237S 1.000 superfamily_ARM-type_fold pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold - no_errors MON2 HGNC MORF4L1 10933 genome.wustl.edu 37 15 79140359 79140359 + RNA SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 15 79140359 79140359 G A SNP MORF4L1 ENST00000559697 human ensembl 70_37 +1 known rna NULL NULL 0.034 - - - no_errors MORF4L1 HGNC MTPAP 55149 genome.wustl.edu 37 10 30602411 30602411 + RNA SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 10 30602411 30602411 G C SNP MTPAP ENST00000488290 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MTPAP HGNC MTPAP 55149 genome.wustl.edu 37 10 30602411 30602411 + RNA SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 10 30602411 30602411 G C SNP MTPAP ENST00000488290 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MTPAP HGNC MUC17 140453 genome.wustl.edu 37 7 100676739 100676739 + Nonsense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 7 100676739 100676739 C G SNP MUC17 ENST00000306151 human ensembl 70_37 +1 known nonsense c.2042 p.S681* 0.002 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC MUC17 140453 genome.wustl.edu 37 7 100676739 100676739 + Nonsense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 7 100676739 100676739 C G SNP MUC17 ENST00000306151 human ensembl 70_37 +1 known nonsense c.2042 p.S681* 0.002 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC MUC5AC 4586 genome.wustl.edu 37 11 1214870 1214870 + RNA SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 11 1214870 1214870 C T SNP MUC5AC ENST00000358378 human ensembl 70_37 +1 putative rna NULL NULL 0.354 - - - no_errors MUC5AC HGNC MUC5AC 4586 genome.wustl.edu 37 11 1214870 1214870 + RNA SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 11 1214870 1214870 C T SNP MUC5AC ENST00000358378 human ensembl 70_37 +1 putative rna NULL NULL 0.354 - - - no_errors MUC5AC HGNC MYH9 4627 genome.wustl.edu 37 22 36690135 36690136 + Splice_Site INS - - A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 22 36690135 36690136 - A INS MYH9 ENST00000216181 human ensembl 70_37 -1 known splice_site_ins c.3837+2_3837+1 e27+2 1.000:1.000 - - - no_errors MYH9 HGNC MYH9 4627 genome.wustl.edu 37 22 36690135 36690136 + Splice_Site INS - - A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 22 36690135 36690136 - A INS MYH9 ENST00000216181 human ensembl 70_37 -1 known splice_site_ins c.3837+2_3837+1 e27+2 1.000:1.000 - - - no_errors MYH9 HGNC NCOA6 23054 genome.wustl.edu 37 20 33356297 33356297 + Nonsense_Mutation SNP C C A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 20 33356297 33356297 C A SNP NCOA6 ENST00000359003 human ensembl 70_37 -1 known nonsense c.484 p.E162* 1.000 NULL NULL - no_errors NCOA6 HGNC NCOA6 23054 genome.wustl.edu 37 20 33356297 33356297 + Nonsense_Mutation SNP C C A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 20 33356297 33356297 C A SNP NCOA6 ENST00000359003 human ensembl 70_37 -1 known nonsense c.484 p.E162* 1.000 NULL NULL - no_errors NCOA6 HGNC NDUFAF5 79133 genome.wustl.edu 37 20 13796890 13796890 + RNA SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 20 13796890 13796890 C T SNP NDUFAF5 ENST00000479682 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors NDUFAF5 HGNC NLRC5 84166 genome.wustl.edu 37 16 57075481 57075481 + Missense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 16 57075481 57075481 C G SNP NLRC5 ENST00000262510 human ensembl 70_37 +1 known missense c.3024 p.H1008Q 0.614 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase - no_errors NLRC5 HGNC NLRC5 84166 genome.wustl.edu 37 16 57075481 57075481 + Missense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 16 57075481 57075481 C G SNP NLRC5 ENST00000262510 human ensembl 70_37 +1 known missense c.3024 p.H1008Q 0.614 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase - no_errors NLRC5 HGNC OR2T2 401992 genome.wustl.edu 37 1 248616883 248616883 + Missense_Mutation SNP T T A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 248616883 248616883 T A SNP OR2T2 ENST00000342927 human ensembl 70_37 +1 known missense c.785 p.L262Q 0.339 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T2 HGNC OR7G1 125962 genome.wustl.edu 37 19 9225923 9225923 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 19 9225923 9225923 C T SNP OR7G1 ENST00000293614 human ensembl 70_37 -1 known missense c.517 p.E173K 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7G1 HGNC OR7G1 125962 genome.wustl.edu 37 19 9225923 9225923 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 19 9225923 9225923 C T SNP OR7G1 ENST00000293614 human ensembl 70_37 -1 known missense c.517 p.E173K 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7G1 HGNC PCDHA13 56136 genome.wustl.edu 37 5 140262124 140262124 + Missense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 5 140262124 140262124 G A SNP PCDHA13 ENST00000289272 human ensembl 70_37 +1 known missense c.271 p.D91N 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC PCDHA13 56136 genome.wustl.edu 37 5 140262124 140262124 + Missense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 5 140262124 140262124 G A SNP PCDHA13 ENST00000289272 human ensembl 70_37 +1 known missense c.271 p.D91N 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC PHF21A 51317 genome.wustl.edu 37 11 45975137 45975137 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 11 45975137 45975137 C T SNP PHF21A ENST00000257821 human ensembl 70_37 -1 known missense c.1036 p.E346K 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF21A HGNC PHF21A 51317 genome.wustl.edu 37 11 45975137 45975137 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 11 45975137 45975137 C T SNP PHF21A ENST00000257821 human ensembl 70_37 -1 known missense c.1036 p.E346K 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF21A HGNC PLOD1 5351 genome.wustl.edu 37 1 12032267 12032268 + RNA DEL CT CT - TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 12032267 12032268 CT - DEL PLOD1 ENST00000481933 human ensembl 70_37 +1 known rna NULL NULL 0.005:0.004 - - - no_errors PLOD1 HGNC PNPLA6 10908 genome.wustl.edu 37 19 7626141 7626141 + Missense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 19 7626141 7626141 G A SNP PNPLA6 ENST00000414982 human ensembl 70_37 +1 known missense c.3991 p.D1331N 0.985 NULL pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA6 HGNC PNPLA6 10908 genome.wustl.edu 37 19 7626141 7626141 + Missense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 19 7626141 7626141 G A SNP PNPLA6 ENST00000414982 human ensembl 70_37 +1 known missense c.3991 p.D1331N 0.985 NULL pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA6 HGNC POLR1A 25885 genome.wustl.edu 37 2 86259429 86259429 + Missense_Mutation SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 2 86259429 86259429 G C SNP POLR1A ENST00000263857 human ensembl 70_37 -1 known missense c.4238 p.S1413C 0.988 pfam_RNA_pol_Rpb1_5 pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N - no_errors POLR1A HGNC POLR2J4 84820 genome.wustl.edu 37 7 43982844 43982844 + RNA SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 7 43982844 43982844 C T SNP POLR2J4 ENST00000427076 human ensembl 70_37 -1 known rna NULL NULL 0.029 - - - no_errors POLR2J4 HGNC POLR2J4 84820 genome.wustl.edu 37 7 43991565 43991565 + RNA SNP A A G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 7 43991565 43991565 A G SNP POLR2J4 ENST00000454572 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors POLR2J4 HGNC PRKDC 5591 genome.wustl.edu 37 8 48685753 48685754 + RNA INS - - A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 8 48685753 48685754 - A INS PRKDC ENST00000523565 human ensembl 70_37 -1 known rna NULL NULL 0.001:0.001 - - - no_errors PRKDC HGNC PROB1 389333 genome.wustl.edu 37 5 138728516 138728516 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 5 138728516 138728516 C T SNP PROB1 ENST00000434752 human ensembl 70_37 -1 known missense c.2255 p.R752Q 0.000 NULL NULL - no_errors PROB1 HGNC PTP4A2 8073 genome.wustl.edu 37 1 32384717 32384717 + RNA DEL A A - TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 32384717 32384717 A - DEL PTP4A2 ENST00000532289 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors PTP4A2 HGNC RAD54L2 23132 genome.wustl.edu 37 3 51697389 51697389 + Missense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 3 51697389 51697389 G A SNP RAD54L2 ENST00000409535 human ensembl 70_37 +1 known missense c.4357 p.D1453N 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54L2 HGNC RAD54L2 23132 genome.wustl.edu 37 3 51697389 51697389 + Missense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 3 51697389 51697389 G A SNP RAD54L2 ENST00000409535 human ensembl 70_37 +1 known missense c.4357 p.D1453N 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54L2 HGNC RELN 5649 genome.wustl.edu 37 7 103193976 103193976 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 7 103193976 103193976 C T SNP RELN ENST00000424685 human ensembl 70_37 -1 known missense c.6004 p.E2002K 1.000 superfamily_Neuraminidase pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC RELN 5649 genome.wustl.edu 37 7 103193976 103193976 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 7 103193976 103193976 C T SNP RELN ENST00000424685 human ensembl 70_37 -1 known missense c.6004 p.E2002K 1.000 superfamily_Neuraminidase pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC RNF217 154214 genome.wustl.edu 37 6 125284221 125284221 + Silent SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 6 125284221 125284221 C T SNP RNF217 ENST00000521654 human ensembl 70_37 +1 novel silent c.531 p.P177 0.001 NULL pfam_Znf_C6HC,smart_Znf_C6HC - no_errors RNF217 HGNC RPGR 6103 genome.wustl.edu 37 X 38146175 38146175 + Missense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 X 38146175 38146175 C G SNP RPGR ENST00000378505 human ensembl 70_37 -1 known missense c.2077 p.E693Q 0.440 NULL pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RPGR HGNC RPPH1 85495 genome.wustl.edu 37 14 20811367 20811367 + RNA SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 14 20811367 20811367 G A SNP RPPH1 ENST00000516869 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RPPH1 HGNC RUSC1 23623 genome.wustl.edu 37 1 155294395 155294395 + RNA SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 155294395 155294395 G A SNP RUSC1 ENST00000471876 human ensembl 70_37 +1 known rna NULL NULL 0.010 - - - no_errors RUSC1 HGNC S100A1 6271 genome.wustl.edu 37 1 153604234 153604234 + Missense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 153604234 153604234 G A SNP S100A1 ENST00000368698 human ensembl 70_37 +1 known missense c.361 p.G121R 1.000 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_S100_Ca-bd_sub,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors S100A1 HGNC S100A1 6271 genome.wustl.edu 37 1 153604234 153604234 + Missense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 153604234 153604234 G A SNP S100A1 ENST00000368698 human ensembl 70_37 +1 known missense c.361 p.G121R 1.000 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_S100_Ca-bd_sub,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors S100A1 HGNC SCN8A 6334 genome.wustl.edu 37 12 52139775 52139775 + Missense_Mutation SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 12 52139775 52139775 G C SNP SCN8A ENST00000354534 human ensembl 70_37 +1 known missense c.2087 p.R696T 1.000 pfam_DUF3451 pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC SCN8A 6334 genome.wustl.edu 37 12 52139775 52139775 + Missense_Mutation SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 12 52139775 52139775 G C SNP SCN8A ENST00000354534 human ensembl 70_37 +1 known missense c.2087 p.R696T 1.000 pfam_DUF3451 pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC SDCCAG3 10807 genome.wustl.edu 37 9 139302311 139302311 + Silent SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 9 139302311 139302311 C T SNP SDCCAG3 ENST00000357365 human ensembl 70_37 -1 known silent c.369 p.S123 0.000 NULL NULL - no_errors SDCCAG3 HGNC SDCCAG3 10807 genome.wustl.edu 37 9 139302311 139302311 + Silent SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 9 139302311 139302311 C T SNP SDCCAG3 ENST00000357365 human ensembl 70_37 -1 known silent c.369 p.S123 0.000 NULL NULL - no_errors SDCCAG3 HGNC SDHAP1 255812 genome.wustl.edu 37 3 195692419 195692419 + RNA SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 3 195692419 195692419 C G SNP SDHAP1 ENST00000354559 human ensembl 70_37 -1 known rna NULL NULL 0.082 - - - no_errors SDHAP1 HGNC SEPHS2 22928 genome.wustl.edu 37 16 30456484 30456484 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 16 30456484 30456484 C T SNP SEPHS2 ENST00000542752 human ensembl 70_37 -1 known missense c.394 p.E132K 0.994 pfam_AIR_synth_N_dom,superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD - no_errors SEPHS2 HGNC SEPHS2 22928 genome.wustl.edu 37 16 30456484 30456484 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 16 30456484 30456484 C T SNP SEPHS2 ENST00000542752 human ensembl 70_37 -1 known missense c.394 p.E132K 0.994 pfam_AIR_synth_N_dom,superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD - no_errors SEPHS2 HGNC SGSM3 27352 genome.wustl.edu 37 22 40803462 40803462 + Missense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 22 40803462 40803462 G A SNP SGSM3 ENST00000248929 human ensembl 70_37 +1 known missense c.1414 p.E472K 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_Rab-GTPase-TBC_dom,superfamily_SH3_domain,smart_Rab-GTPase-TBC_dom,smart_SH3_domain,smart_Run,pfscan_Run,pfscan_SH3_domain,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM3 HGNC SGSM3 27352 genome.wustl.edu 37 22 40803462 40803462 + Missense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 22 40803462 40803462 G A SNP SGSM3 ENST00000248929 human ensembl 70_37 +1 known missense c.1414 p.E472K 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_Rab-GTPase-TBC_dom,superfamily_SH3_domain,smart_Rab-GTPase-TBC_dom,smart_SH3_domain,smart_Run,pfscan_Run,pfscan_SH3_domain,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM3 HGNC SHANK1 50944 genome.wustl.edu 37 19 51169762 51169762 + Missense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 19 51169762 51169762 C G SNP SHANK1 ENST00000391814 human ensembl 70_37 -1 known missense c.5479 p.E1827Q 0.964 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK1 HGNC SHANK1 50944 genome.wustl.edu 37 19 51169762 51169762 + Missense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 19 51169762 51169762 C G SNP SHANK1 ENST00000391814 human ensembl 70_37 -1 known missense c.5479 p.E1827Q 0.964 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK1 HGNC SLC32A1 140679 genome.wustl.edu 37 20 37356217 37356217 + Silent SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 20 37356217 37356217 C T SNP SLC32A1 ENST00000217420 human ensembl 70_37 +1 known silent c.513 p.Y171 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC32A1 HGNC SLC32A1 140679 genome.wustl.edu 37 20 37356217 37356217 + Silent SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 20 37356217 37356217 C T SNP SLC32A1 ENST00000217420 human ensembl 70_37 +1 known silent c.513 p.Y171 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC32A1 HGNC SMS 6611 genome.wustl.edu 37 X 21958934 21958934 + RNA SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 X 21958934 21958934 C T SNP SMS ENST00000478094 human ensembl 70_37 +1 known rna NULL NULL 0.893 - - - no_errors SMS HGNC SNAPC2 6618 genome.wustl.edu 37 19 7987549 7987549 + Missense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 19 7987549 7987549 G A SNP SNAPC2 ENST00000221573 human ensembl 70_37 +1 known missense c.905 p.S302N 0.000 pfam_SnAPC_su2-like pfam_SnAPC_su2-like - no_errors SNAPC2 HGNC SNAPC2 6618 genome.wustl.edu 37 19 7987549 7987549 + Missense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 19 7987549 7987549 G A SNP SNAPC2 ENST00000221573 human ensembl 70_37 +1 known missense c.905 p.S302N 0.000 pfam_SnAPC_su2-like pfam_SnAPC_su2-like - no_errors SNAPC2 HGNC SNORD3B-2 780852 genome.wustl.edu 37 17 18965611 18965611 + RNA SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 17 18965611 18965611 G A SNP SNORD3B-2 ENST00000577988 human ensembl 70_37 +1 known rna NULL NULL 0.011 - - - no_errors SNORD3B-1 Clone_based_vega_gene SNTG2 54221 genome.wustl.edu 37 2 1357626 1357626 + RNA SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 2 1357626 1357626 G C SNP SNTG2 ENST00000472606 human ensembl 70_37 +1 known rna NULL NULL 0.999 - - - no_errors SNTG2 HGNC SNX20 124460 genome.wustl.edu 37 16 50707548 50707548 + Silent SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 16 50707548 50707548 G A SNP SNX20 ENST00000330943 human ensembl 70_37 -1 known silent c.720 p.L240 0.864 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX20 HGNC SOGA3 387104 genome.wustl.edu 37 6 127837445 127837445 + Silent SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 6 127837445 127837445 C T SNP SOGA3 ENST00000368268 human ensembl 70_37 -1 known silent c.315 p.A105 0.089 NULL pfam_DUF3166 - no_errors SOGA3 HGNC SOS2 6655 genome.wustl.edu 37 14 50597312 50597312 + Missense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 14 50597312 50597312 C G SNP SOS2 ENST00000216373 human ensembl 70_37 -1 known missense c.3244 p.A1082P 1.000 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS2 HGNC SOS2 6655 genome.wustl.edu 37 14 50597312 50597312 + Missense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 14 50597312 50597312 C G SNP SOS2 ENST00000216373 human ensembl 70_37 -1 known missense c.3244 p.A1082P 1.000 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS2 HGNC SPG11 80208 genome.wustl.edu 37 15 44941174 44941174 + Missense_Mutation SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 15 44941174 44941174 G C SNP SPG11 ENST00000261866 human ensembl 70_37 -1 known missense c.1492 p.Q498E 1.000 NULL NULL - no_errors SPG11 HGNC SPG11 80208 genome.wustl.edu 37 15 44941174 44941174 + Missense_Mutation SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 15 44941174 44941174 G C SNP SPG11 ENST00000261866 human ensembl 70_37 -1 known missense c.1492 p.Q498E 1.000 NULL NULL - no_errors SPG11 HGNC ST5 6764 genome.wustl.edu 37 11 8725068 8725068 + RNA SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 11 8725068 8725068 G A SNP ST5 ENST00000526837 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ST5 HGNC ST8SIA3 51046 genome.wustl.edu 37 18 55020123 55020123 + Missense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 18 55020123 55020123 G A SNP ST8SIA3 ENST00000324000 human ensembl 70_37 +1 known missense c.46 p.V16I 1.000 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA3 HGNC ST8SIA3 51046 genome.wustl.edu 37 18 55020123 55020123 + Missense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 18 55020123 55020123 G A SNP ST8SIA3 ENST00000324000 human ensembl 70_37 +1 known missense c.46 p.V16I 1.000 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA3 HGNC STRN 6801 genome.wustl.edu 37 2 37193479 37193480 + Frame_Shift_Ins INS - - C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 2 37193479 37193480 - C INS STRN ENST00000263918 human ensembl 70_37 -1 known frame_shift_ins c.128_127 p.A43fs 1.000:1.000 NULL pfam_Striatin_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors STRN HGNC TAS2R16 50833 genome.wustl.edu 37 7 122634943 122634943 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 7 122634943 122634943 C T SNP TAS2R16 ENST00000249284 human ensembl 70_37 -1 known missense c.746 p.G249D 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R16 HGNC TAS2R16 50833 genome.wustl.edu 37 7 122634943 122634943 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 7 122634943 122634943 C T SNP TAS2R16 ENST00000249284 human ensembl 70_37 -1 known missense c.746 p.G249D 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R16 HGNC TENM4 26011 genome.wustl.edu 37 11 78412896 78412896 + Silent SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 11 78412896 78412896 G A SNP TENM4 ENST00000278550 human ensembl 70_37 -1 known silent c.4762 p.L1588 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC TENM4 26011 genome.wustl.edu 37 11 78412896 78412896 + Silent SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 11 78412896 78412896 G A SNP TENM4 ENST00000278550 human ensembl 70_37 -1 known silent c.4762 p.L1588 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC THAP7 80764 genome.wustl.edu 37 22 21354220 21354220 + Silent SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 22 21354220 21354220 C T SNP THAP7 ENST00000215742 human ensembl 70_37 -1 known silent c.879 p.L293 1.000 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP7 HGNC THAP7 80764 genome.wustl.edu 37 22 21354220 21354220 + Silent SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 22 21354220 21354220 C T SNP THAP7 ENST00000215742 human ensembl 70_37 -1 known silent c.879 p.L293 1.000 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP7 HGNC TMEM132B 114795 genome.wustl.edu 37 12 126128683 126128683 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 12 126128683 126128683 C T SNP TMEM132B ENST00000299308 human ensembl 70_37 +1 known missense c.1484 p.T495M 1.000 NULL NULL - no_errors TMEM132B HGNC TMEM132B 114795 genome.wustl.edu 37 12 126128683 126128683 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 12 126128683 126128683 C T SNP TMEM132B ENST00000299308 human ensembl 70_37 +1 known missense c.1484 p.T495M 1.000 NULL NULL - no_errors TMEM132B HGNC TNRC18 84629 genome.wustl.edu 37 7 5401610 5401610 + Missense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 7 5401610 5401610 G A SNP TNRC18 ENST00000399537 human ensembl 70_37 -1 known missense c.4450 p.R1484W 1.000 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC TNRC18 84629 genome.wustl.edu 37 7 5401610 5401610 + Missense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 7 5401610 5401610 G A SNP TNRC18 ENST00000399537 human ensembl 70_37 -1 known missense c.4450 p.R1484W 1.000 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC TPTE 7179 genome.wustl.edu 37 21 10942949 10942949 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 21 10942949 10942949 C T SNP TPTE ENST00000361285 human ensembl 70_37 -1 known missense c.638 p.R213K 1.000 pfam_Ion_trans_dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC TRAF5 7188 genome.wustl.edu 37 1 211532937 211532937 + RNA SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 211532937 211532937 G A SNP TRAF5 ENST00000462410 human ensembl 70_37 +1 known rna NULL NULL 0.007 - - - no_errors TRAF5 HGNC TSSC1 7260 genome.wustl.edu 37 2 3323586 3323586 + RNA SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 2 3323586 3323586 G A SNP TSSC1 ENST00000478754 human ensembl 70_37 -1 known rna NULL NULL 0.735 - - - no_errors TSSC1 HGNC TSSC1 7260 genome.wustl.edu 37 2 3323588 3323588 + RNA SNP A A C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 2 3323588 3323588 A C SNP TSSC1 ENST00000478754 human ensembl 70_37 -1 known rna NULL NULL 0.961 - - - no_errors TSSC1 HGNC TTC16 158248 genome.wustl.edu 37 9 130486698 130486698 + Missense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 9 130486698 130486698 C G SNP TTC16 ENST00000393748 human ensembl 70_37 +1 known missense c.644 p.S215C 0.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC16 HGNC TTC16 158248 genome.wustl.edu 37 9 130486698 130486698 + Missense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 9 130486698 130486698 C G SNP TTC16 ENST00000393748 human ensembl 70_37 +1 known missense c.644 p.S215C 0.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC16 HGNC TTC16 158248 genome.wustl.edu 37 9 130486938 130486938 + RNA SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 9 130486938 130486938 C G SNP TTC16 ENST00000488285 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TTC16 HGNC TTC28-AS1 284900 genome.wustl.edu 37 22 28396518 28396518 + RNA SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 22 28396518 28396518 C T SNP TTC28-AS1 ENST00000428584 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TTC28-AS1 HGNC TUBGCP5 114791 genome.wustl.edu 37 15 22833552 22833552 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 15 22833552 22833552 C T SNP TUBGCP5 ENST00000283645 human ensembl 70_37 +1 known missense c.28 p.R10W 0.000 NULL pfam_Spc97_Spc98 - no_errors TUBGCP5 HGNC TUBGCP5 114791 genome.wustl.edu 37 15 22833552 22833552 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 15 22833552 22833552 C T SNP TUBGCP5 ENST00000283645 human ensembl 70_37 +1 known missense c.28 p.R10W 0.000 NULL pfam_Spc97_Spc98 - no_errors TUBGCP5 HGNC TXNRD1 7296 genome.wustl.edu 37 12 104725378 104725378 + Missense_Mutation SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 12 104725378 104725378 G C SNP TXNRD1 ENST00000429002 human ensembl 70_37 +1 known missense c.1609 p.E537Q 1.000 pfam_Pyr_nucl-diS_OxRdtase_dimer,superfamily_FAD/NAD-linked_Rdtase_dimer,tigrfam_Thioredoxin/glutathione_Rdtase pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_Glutaredoxin,superfamily_FAD/NAD-linked_Rdtase_dimer,superfamily_Thioredoxin-like_fold,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Thioredoxin/glutathione_Rdtase - no_errors TXNRD1 HGNC TYRO3 7301 genome.wustl.edu 37 15 41859705 41859705 + Missense_Mutation SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 15 41859705 41859705 G C SNP TYRO3 ENST00000263798 human ensembl 70_37 +1 known missense c.931 p.D311H 0.999 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TYRO3 HGNC USH2A 7399 genome.wustl.edu 37 1 215848679 215848679 + Missense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 215848679 215848679 G A SNP USH2A ENST00000366943 human ensembl 70_37 -1 known missense c.12574 p.R4192C 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC USH2A 7399 genome.wustl.edu 37 1 215848679 215848679 + Missense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 1 215848679 215848679 G A SNP USH2A ENST00000366943 human ensembl 70_37 -1 known missense c.12574 p.R4192C 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC USP4 7375 genome.wustl.edu 37 3 49331005 49331005 + RNA SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 3 49331005 49331005 G A SNP USP4 ENST00000475873 human ensembl 70_37 -1 known rna NULL NULL 0.018 - - - no_errors USP4 HGNC VDAC3 7419 genome.wustl.edu 37 8 42256271 42256271 + Silent SNP A A G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 8 42256271 42256271 A G SNP VDAC3 ENST00000392935 human ensembl 70_37 +1 known silent c.162 p.K54 1.000 pfam_Porin_Euk pfam_Porin_Euk,prints_Porin_Euk - no_errors VDAC3 HGNC VDAC3 7419 genome.wustl.edu 37 8 42256271 42256271 + Silent SNP A A G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 8 42256271 42256271 A G SNP VDAC3 ENST00000392935 human ensembl 70_37 +1 known silent c.162 p.K54 1.000 pfam_Porin_Euk pfam_Porin_Euk,prints_Porin_Euk - no_errors VDAC3 HGNC WAS 7454 genome.wustl.edu 37 X 48547408 48547408 + Silent SNP C C A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 X 48547408 48547408 C A SNP WAS ENST00000376701 human ensembl 70_37 +1 known silent c.1291 p.R431 1.000 pfam_WH2_dom,superfamily_WASP_C,smart_WH2_dom,pfscan_WH2_dom pfam_EVH1,pfam_PAK_box_Rho-bd,pfam_WH2_dom,superfamily_WASP_C,smart_EVH1,smart_PAK_box_Rho-bd,smart_WH2_dom,pfscan_PAK_box_Rho-bd,pfscan_EVH1,pfscan_WH2_dom - no_errors WAS HGNC WDR59 79726 genome.wustl.edu 37 16 74999681 74999681 + Missense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 16 74999681 74999681 C G SNP WDR59 ENST00000262144 human ensembl 70_37 -1 known missense c.94 p.V32L 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_UBQ-conjugating_enzyme/RWD,smart_WD40_repeat,smart_RWD-domain,pfscan_RWD-domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR59 HGNC WDR59 79726 genome.wustl.edu 37 16 74999681 74999681 + Missense_Mutation SNP C C G TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 16 74999681 74999681 C G SNP WDR59 ENST00000262144 human ensembl 70_37 -1 known missense c.94 p.V32L 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_UBQ-conjugating_enzyme/RWD,smart_WD40_repeat,smart_RWD-domain,pfscan_RWD-domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR59 HGNC DPH7 92715 genome.wustl.edu 37 9 140459760 140459761 + RNA INS - - CT TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 9 140459760 140459761 - CT INS WDR85 ENST00000497237 human ensembl 70_37 -1 known rna NULL NULL 0.802:0.760 - - - no_errors WDR85 HGNC WNK3 65267 genome.wustl.edu 37 X 54324625 54324625 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 X 54324625 54324625 C T SNP WNK3 ENST00000354646 human ensembl 70_37 -1 known missense c.1381 p.E461K 1.000 pfam_Kinase_OSR1/WNK_CCT pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK3 HGNC WNK3 65267 genome.wustl.edu 37 X 54324625 54324625 + Missense_Mutation SNP C C T TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 X 54324625 54324625 C T SNP WNK3 ENST00000354646 human ensembl 70_37 -1 known missense c.1381 p.E461K 1.000 pfam_Kinase_OSR1/WNK_CCT pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK3 HGNC WNT10A 80326 genome.wustl.edu 37 2 219754750 219754750 + Missense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 2 219754750 219754750 G A SNP WNT10A ENST00000258411 human ensembl 70_37 +1 known missense c.421 p.V141M 1.000 pfam_Wnt,smart_Wnt,prints_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt10 - no_errors WNT10A HGNC WNT10A 80326 genome.wustl.edu 37 2 219754750 219754750 + Missense_Mutation SNP G G A TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 2 219754750 219754750 G A SNP WNT10A ENST00000258411 human ensembl 70_37 +1 known missense c.421 p.V141M 1.000 pfam_Wnt,smart_Wnt,prints_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt10 - no_errors WNT10A HGNC ZMYM2 7750 genome.wustl.edu 37 13 20637063 20637063 + Missense_Mutation SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 13 20637063 20637063 G C SNP ZMYM2 ENST00000382869 human ensembl 70_37 +1 known missense c.2989 p.D997H 1.000 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH - no_errors ZMYM2 HGNC ZMYM2 7750 genome.wustl.edu 37 13 20637063 20637063 + Missense_Mutation SNP G G C TCGA-DS-A0VL-01A-21D-A10S-08 TCGA-DS-A0VL-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 80482bf1-3ae3-4e8f-ba04-21192caf30d5 c1a153fd-d788-4e0f-b1a8-a3052a0f60b6 13 20637063 20637063 G C SNP ZMYM2 ENST00000382869 human ensembl 70_37 +1 known missense c.2989 p.D997H 1.000 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH - no_errors ZMYM2 HGNC