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 ADAM32 203102 genome.wustl.edu 37 8 39142357 39142357 + RNA SNP C C T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 8 39142357 39142357 C T SNP ADAM32 ENST00000524303 human ensembl 70_37 +1 known rna NULL NULL 0.908 - - - no_errors ADAM32 HGNC AGFG2 3268 genome.wustl.edu 37 7 100146506 100146506 + Missense_Mutation SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 7 100146506 100146506 G A SNP AGFG2 ENST00000300176 human ensembl 70_37 +1 known missense c.283 p.E95K 1.000 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors AGFG2 HGNC AKAP12 9590 genome.wustl.edu 37 6 151673794 151673794 + Missense_Mutation SNP C C T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 6 151673794 151673794 C T SNP AKAP12 ENST00000253332 human ensembl 70_37 +1 known missense c.4268 p.A1423V 0.027 NULL pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1 - no_errors AKAP12 HGNC ALDH8A1 64577 genome.wustl.edu 37 6 135254073 135254073 + Silent SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 6 135254073 135254073 G A SNP ALDH8A1 ENST00000265605 human ensembl 70_37 -1 known silent c.690 p.T230 0.053 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH8A1 HGNC ATP8B5P 158381 genome.wustl.edu 37 9 35480057 35480057 + RNA SNP T T A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 9 35480057 35480057 T A SNP ATP8B5P ENST00000329395 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ATP8B5P HGNC AXIN1 8312 genome.wustl.edu 37 16 348162 348162 + Silent SNP C C T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 16 348162 348162 C T SNP AXIN1 ENST00000262320 human ensembl 70_37 -1 known silent c.1344 p.P448 0.018 NULL pfam_DIX,pfam_Regulat_G_prot_signal,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors AXIN1 HGNC CACNA1S 779 genome.wustl.edu 37 1 201031086 201031086 + Silent SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 1 201031086 201031086 G A SNP CACNA1S ENST00000362061 human ensembl 70_37 -1 known silent c.3039 p.F1013 0.997 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu - no_errors CACNA1S HGNC CDH10 1008 genome.wustl.edu 37 5 24509922 24509922 + Missense_Mutation SNP C C T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 5 24509922 24509922 C T SNP CDH10 ENST00000264463 human ensembl 70_37 -1 known missense c.1009 p.D337N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH10 HGNC CDH18 1016 genome.wustl.edu 37 5 19839103 19839103 + RNA SNP T T A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 5 19839103 19839103 T A SNP CDH18 ENST00000511423 human ensembl 70_37 -1 known rna NULL NULL 0.863 - - - no_errors CDH18 HGNC CECR2 27443 genome.wustl.edu 37 22 18022454 18022454 + Missense_Mutation SNP G G T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 22 18022454 18022454 G T SNP CECR2 ENST00000400573 human ensembl 70_37 +1 novel missense c.2556 p.Q852H 0.025 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors CECR2 HGNC CLTCL1 8218 genome.wustl.edu 37 22 19210232 19210232 + Missense_Mutation SNP C C G TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 22 19210232 19210232 C G SNP CLTCL1 ENST00000263200 human ensembl 70_37 -1 known missense c.2393 p.R798T 1.000 pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTCL1 HGNC COL15A1 1306 genome.wustl.edu 37 9 101748164 101748164 + Nonsense_Mutation SNP G G T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 9 101748164 101748164 G T SNP COL15A1 ENST00000375001 human ensembl 70_37 +1 known nonsense c.418 p.E140* 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL15A1 HGNC COL4A2-AS2 100129836 genome.wustl.edu 37 13 111109251 111109251 + Missense_Mutation SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 13 111109251 111109251 G A SNP COL4A2-AS2 ENST00000599516 human ensembl 70_37 -1 known missense c.814 p.R272C 0.337 NULL NULL - no_errors COL4A2-AS2 HGNC COL8A1 1295 genome.wustl.edu 37 3 99513685 99513685 + Missense_Mutation SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 3 99513685 99513685 G A SNP COL8A1 ENST00000261037 human ensembl 70_37 +1 known missense c.940 p.G314R 1.000 NULL pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL8A1 HGNC CREB3L3 84699 genome.wustl.edu 37 19 4157289 4157289 + Missense_Mutation SNP C C A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 19 4157289 4157289 C A SNP CREB3L3 ENST00000078445 human ensembl 70_37 +1 known missense c.454 p.L152M 1.000 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors CREB3L3 HGNC CRYL1 51084 genome.wustl.edu 37 13 20978341 20978341 + Missense_Mutation SNP G G T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 13 20978341 20978341 G T SNP CRYL1 ENST00000298248 human ensembl 70_37 -1 known missense c.887 p.A296D 0.915 NULL pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like - no_errors CRYL1 HGNC CSMD2 114784 genome.wustl.edu 37 1 34099119 34099119 + Silent SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 1 34099119 34099119 G A SNP CSMD2 ENST00000373381 human ensembl 70_37 -1 known silent c.5103 p.F1701 0.723 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC DGKZ 8525 genome.wustl.edu 37 11 46397639 46397639 + Missense_Mutation SNP G G T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 11 46397639 46397639 G T SNP DGKZ ENST00000454345 human ensembl 70_37 +1 known missense c.2599 p.V867F 1.000 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKZ HGNC DOPEY2 9980 genome.wustl.edu 37 21 37618844 37618844 + Missense_Mutation SNP G G C TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 21 37618844 37618844 G C SNP DOPEY2 ENST00000399151 human ensembl 70_37 +1 known missense c.4566 p.L1522F 1.000 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC DSCAML1 57453 genome.wustl.edu 37 11 117395799 117395799 + Splice_Site SNP C C T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 11 117395799 117395799 C T SNP DSCAML1 ENST00000321322 human ensembl 70_37 -1 known splice_site c.839-1 e5-1 1.000 - - - no_errors DSCAML1 HGNC ENPP2 5168 genome.wustl.edu 37 8 120628593 120628593 + Missense_Mutation SNP C C A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 8 120628593 120628593 C A SNP ENPP2 ENST00000259486 human ensembl 70_37 -1 known missense c.689 p.G230V 1.000 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENPP2 HGNC ENSG00000203335 0 genome.wustl.edu 37 7 153757799 153757800 + RNA INS - - A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 7 153757799 153757800 - A INS ENSG00000203335 ENST00000542406 human ensembl 70_37 -1 known rna NULL NULL 0.129:0.124 - - - no_errors AC006019.3 Clone_based_vega_gene ENSG00000229400 0 genome.wustl.edu 37 1 224918075 224918075 + RNA SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 1 224918075 224918075 G A SNP ENSG00000229400 ENST00000431691 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-3L21.2 Clone_based_vega_gene EP400 57634 genome.wustl.edu 37 12 132514585 132514585 + Missense_Mutation SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 12 132514585 132514585 G A SNP EP400 ENST00000333577 human ensembl 70_37 +1 known missense c.5744 p.R1915H 1.000 pfscan_Helicase_C pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC FAM227B 196951 genome.wustl.edu 37 15 49882154 49882154 + Missense_Mutation SNP G G C TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 15 49882154 49882154 G C SNP FAM227B ENST00000299338 human ensembl 70_37 -1 known missense c.156 p.C52W 0.000 NULL NULL - no_errors FAM227B HGNC FAM98A 25940 genome.wustl.edu 37 2 33813412 33813412 + Missense_Mutation SNP A A G TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 2 33813412 33813412 A G SNP FAM98A ENST00000238823 human ensembl 70_37 -1 known missense c.512 p.I171T 1.000 pfam_Uncharacterised_FAM98 pfam_Uncharacterised_FAM98 - no_errors FAM98A HGNC FBXL13 222235 genome.wustl.edu 37 7 102695584 102695584 + Missense_Mutation SNP C C T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 7 102695584 102695584 C T SNP FBXL13 ENST00000448002 human ensembl 70_37 -1 known missense c.221 p.R74K 0.115 NULL superfamily_F-box_dom_cyclin-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like - no_errors FBXL13 HGNC FLG 2312 genome.wustl.edu 37 1 152280708 152280708 + Missense_Mutation SNP G G T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 1 152280708 152280708 G T SNP FLG ENST00000368799 human ensembl 70_37 -1 known missense c.6654 p.D2218E 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC FOXC1 2296 genome.wustl.edu 37 6 1612199 1612199 + Missense_Mutation SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 6 1612199 1612199 G A SNP FOXC1 ENST00000380874 human ensembl 70_37 +1 known missense c.1519 p.V507M 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXC1 HGNC FYN 2534 genome.wustl.edu 37 6 112041198 112041198 + Silent SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 6 112041198 112041198 G A SNP FYN ENST00000354650 human ensembl 70_37 -1 known silent c.57 p.D19 0.301 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors FYN HGNC GAL3ST3 89792 genome.wustl.edu 37 11 65810621 65810621 + Missense_Mutation SNP C C T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 11 65810621 65810621 C T SNP GAL3ST3 ENST00000312006 human ensembl 70_37 -1 known missense c.653 p.R218H 0.560 pfam_Gal-3-0_sulfotransfrase pfam_Gal-3-0_sulfotransfrase - no_errors GAL3ST3 HGNC GATA2 2624 genome.wustl.edu 37 3 128199904 128199904 + Silent SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 3 128199904 128199904 G A SNP GATA2 ENST00000341105 human ensembl 70_37 -1 known silent c.1401 p.F467 0.992 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA2 HGNC GNB5 10681 genome.wustl.edu 37 15 52418211 52418211 + Nonsense_Mutation SNP C C A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 15 52418211 52418211 C A SNP GNB5 ENST00000261837 human ensembl 70_37 -1 known nonsense c.943 p.E315* 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep - no_errors GNB5 HGNC GOLGA8F 100132565 genome.wustl.edu 37 15 28632828 28632828 + Missense_Mutation SNP A A T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 15 28632828 28632828 A T SNP GOLGA8F ENST00000526619 human ensembl 70_37 +1 known missense c.754 p.R252W 0.987 NULL NULL - no_errors GOLGA8F HGNC GPR179 440435 genome.wustl.edu 37 17 36482459 36482459 + Silent SNP C C T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 17 36482459 36482459 C T SNP GPR179 ENST00000342292 human ensembl 70_37 -1 known silent c.6993 p.Q2331 0.236 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C - no_errors GPR179 HGNC GPS1 2873 genome.wustl.edu 37 17 80014794 80014794 + Missense_Mutation SNP C C A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 17 80014794 80014794 C A SNP GPS1 ENST00000355130 human ensembl 70_37 +1 known missense c.1453 p.R485S 0.999 NULL pfam_26S_proteasome_reg_su-Rpn7,pfam_PCI_dom,smart_PCI_dom - no_errors GPS1 HGNC ID1 3397 genome.wustl.edu 37 20 30193562 30193562 + Silent SNP G G T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 20 30193562 30193562 G T SNP ID1 ENST00000376112 human ensembl 70_37 +1 known silent c.372 p.P124 0.002 superfamily_HLH_dom pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors ID1 HGNC INPP5J 27124 genome.wustl.edu 37 22 31523358 31523358 + Missense_Mutation SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 22 31523358 31523358 G A SNP INPP5J ENST00000331075 human ensembl 70_37 +1 known missense c.1627 p.V543M 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_errors INPP5J HGNC ISPD 729920 genome.wustl.edu 37 7 16255786 16255786 + Nonsense_Mutation SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 7 16255786 16255786 G A SNP ISPD ENST00000407010 human ensembl 70_37 -1 known nonsense c.1156 p.Q386* 0.987 NULL pfam_ISPD_synthase - no_errors ISPD HGNC KBTBD4 55709 genome.wustl.edu 37 11 47595183 47595183 + Missense_Mutation SNP C C G TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 11 47595183 47595183 C G SNP KBTBD4 ENST00000430070 human ensembl 70_37 -1 known missense c.904 p.D302H 1.000 NULL pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors KBTBD4 HGNC KLF3 51274 genome.wustl.edu 37 4 38690502 38690502 + Silent SNP C C T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 4 38690502 38690502 C T SNP KLF3 ENST00000261438 human ensembl 70_37 +1 known silent c.354 p.G118 0.152 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF3 HGNC KLK13 26085 genome.wustl.edu 37 19 51563191 51563191 + Silent SNP C C A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 19 51563191 51563191 C A SNP KLK13 ENST00000595793 human ensembl 70_37 -1 known silent c.399 p.P133 0.013 pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors KLK13 HGNC LIN7A 8825 genome.wustl.edu 37 12 81331463 81331463 + Missense_Mutation SNP G G C TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 12 81331463 81331463 G C SNP LIN7A ENST00000552864 human ensembl 70_37 -1 known missense c.39 p.D13E 1.000 NULL pfam_PDZ,pfam_L27_C,superfamily_PDZ,smart_L27,smart_PDZ,pirsf_Lin-7_homologue,pfscan_L27,pfscan_PDZ - no_errors LIN7A HGNC LIPC 3990 genome.wustl.edu 37 15 58838164 58838164 + Silent SNP C C T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 15 58838164 58838164 C T SNP LIPC ENST00000299022 human ensembl 70_37 +1 known silent c.798 p.H266 0.000 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase_hep,prints_Lipase,prints_Lipo_Lipase - no_errors LIPC HGNC LOC100996870 100996870 genome.wustl.edu 37 9 66466538 66466538 + RNA SNP C C T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 9 66466538 66466538 C T SNP LOC100996870 ENST00000424345 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors RP11-262H14.1 Clone_based_vega_gene LOC101060787 101060787 genome.wustl.edu 37 22 20709953 20709953 + Missense_Mutation SNP C C T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 22 20709953 20709953 C T SNP LOC101060787 ENST00000434783 human ensembl 70_37 +1 putative missense c.1685 p.P562L 0.998 superfamily_Kinase-like_dom pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom - no_errors AC007731.1 Clone_based_vega_gene LRRK2 120892 genome.wustl.edu 37 12 40745533 40745533 + Missense_Mutation SNP G G C TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 12 40745533 40745533 G C SNP LRRK2 ENST00000298910 human ensembl 70_37 +1 known missense c.6574 p.E2192Q 1.000 superfamily_WD40_repeat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC MARCH3 115123 genome.wustl.edu 37 5 126214052 126214052 + Missense_Mutation SNP C C T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 5 126214052 126214052 C T SNP MARCH3 ENST00000308660 human ensembl 70_37 -1 known missense c.428 p.R143Q 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors MARCH3 HGNC MATR3 9782 genome.wustl.edu 37 5 138653340 138653340 + Missense_Mutation SNP A A G TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 5 138653340 138653340 A G SNP MATR3 ENST00000361059 human ensembl 70_37 +1 known missense c.1238 p.Y413C 1.000 smart_RRM_dom,pfscan_RRM_dom smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors MATR3 HGNC MCC 4163 genome.wustl.edu 37 5 112824048 112824049 + In_Frame_Ins INS - - GCC TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 5 112824048 112824049 - GCC INS MCC ENST00000408903 human ensembl 70_37 -1 putative in_frame_ins c.64_63 p.21in_frame_insG 0.854:0.894 NULL pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors MCC HGNC KMT2B 9757 genome.wustl.edu 37 19 36227608 36227608 + Missense_Mutation SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 19 36227608 36227608 G A SNP MLL4 ENST00000222270 human ensembl 70_37 +1 known missense c.7177 p.E2393K 1.000 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors WBP7 Uniprot_genename MLLT4 4301 genome.wustl.edu 37 6 168316019 168316019 + Missense_Mutation SNP C C A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 6 168316019 168316019 C A SNP MLLT4 ENST00000366806 human ensembl 70_37 +1 known missense c.2450 p.A817E 1.000 pfam_Dil_domain,pfscan_Dilute pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC MPP5 64398 genome.wustl.edu 37 14 67786976 67786976 + Nonsense_Mutation SNP G G T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 14 67786976 67786976 G T SNP MPP5 ENST00000261681 human ensembl 70_37 +1 known nonsense c.1399 p.E467* 1.000 NULL pfam_Guanylate_kin,pfam_L27_N,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,pfam_L27_C,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors MPP5 HGNC MPP7 143098 genome.wustl.edu 37 10 28420622 28420622 + Splice_Site SNP T T C TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 10 28420622 28420622 T C SNP MPP7 ENST00000337532 human ensembl 70_37 -1 known splice_site c.316-2 e5-2 0.999 - - - no_errors MPP7 HGNC MRGPRX1 259249 genome.wustl.edu 37 11 18955962 18955962 + Missense_Mutation SNP C C T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 11 18955962 18955962 C T SNP MRGPRX1 ENST00000302797 human ensembl 70_37 -1 known missense c.370 p.V124I 0.853 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX1 HGNC MTHFD2L 441024 genome.wustl.edu 37 4 75147263 75147263 + Silent SNP C C T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 4 75147263 75147263 C T SNP MTHFD2L ENST00000395759 human ensembl 70_37 +1 known silent c.927 p.F309 1.000 pfam_THF_DH/CycHdrlase_NAD-bd_dom,prints_THF_DH/CycHdrlase pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase - no_errors MTHFD2L HGNC MYPN 84665 genome.wustl.edu 37 10 69902782 69902782 + Missense_Mutation SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 10 69902782 69902782 G A SNP MYPN ENST00000358913 human ensembl 70_37 +1 known missense c.988 p.E330K 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MYPN HGNC NBPF1 55672 genome.wustl.edu 37 1 16889866 16889866 + RNA SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 1 16889866 16889866 G A SNP NBPF1 ENST00000401007 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors NBPF1 HGNC NEUROG2 63973 genome.wustl.edu 37 4 113436223 113436223 + Nonsense_Mutation SNP C C A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 4 113436223 113436223 C A SNP NEUROG2 ENST00000313341 human ensembl 70_37 -1 known nonsense c.409 p.E137* 0.995 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 NEUROG2 HGNC NOS3 4846 genome.wustl.edu 37 7 150707711 150707711 + Missense_Mutation SNP G G C TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 7 150707711 150707711 G C SNP NOS3 ENST00000297494 human ensembl 70_37 +1 known missense c.2712 p.K904N 1.000 pfam_FAD-binding_1,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS3 HGNC NOS3 4846 genome.wustl.edu 37 7 150707745 150707745 + Nonsense_Mutation SNP G G T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 7 150707745 150707745 G T SNP NOS3 ENST00000297494 human ensembl 70_37 +1 known nonsense c.2746 p.E916* 1.000 pfam_FAD-binding_1,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS3 HGNC NRAP 4892 genome.wustl.edu 37 10 115350427 115350427 + Silent SNP C C G TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 10 115350427 115350427 C G SNP NRAP ENST00000369358 human ensembl 70_37 -1 known silent c.4890 p.V1630 0.137 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin - no_errors NRAP HGNC NTRK3 4916 genome.wustl.edu 37 15 88576179 88576179 + Silent SNP G G T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 15 88576179 88576179 G T SNP NTRK3 ENST00000360948 human ensembl 70_37 -1 known silent c.1494 p.P498 0.007 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NTRK3 HGNC OR51F1 256892 genome.wustl.edu 37 11 4790839 4790839 + Missense_Mutation SNP C C A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 11 4790839 4790839 C A SNP OR51F1 ENST00000380383 human ensembl 70_37 -1 known missense c.330 p.M110I 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51F1 HGNC P4HTM 54681 genome.wustl.edu 37 3 49044174 49044174 + Missense_Mutation SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 3 49044174 49044174 G A SNP P4HTM ENST00000343546 human ensembl 70_37 +1 known missense c.1526 p.R509H 0.092 pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors P4HTM HGNC P4HTM 54681 genome.wustl.edu 37 3 49044293 49044293 + Missense_Mutation SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 3 49044293 49044293 G A SNP P4HTM ENST00000343546 human ensembl 70_37 +1 known missense c.1645 p.E549K 0.998 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors P4HTM HGNC PCDH12 51294 genome.wustl.edu 37 5 141335086 141335086 + Silent SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 5 141335086 141335086 G A SNP PCDH12 ENST00000231484 human ensembl 70_37 -1 known silent c.2331 p.L777 0.746 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH12 HGNC PCSK5 5125 genome.wustl.edu 37 9 78938202 78938202 + Missense_Mutation SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 9 78938202 78938202 G A SNP PCSK5 ENST00000545128 human ensembl 70_37 +1 known missense c.4256 p.R1419K 0.997 superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_Furin_repeat pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC PIK3CA 5290 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 3 178936082 178936082 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1624 p.E542K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC PNLIPRP2 5408 genome.wustl.edu 37 10 118380913 118380913 + RNA SNP G G T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 10 118380913 118380913 G T SNP PNLIPRP2 ENST00000429325 human ensembl 70_37 +1 known rna NULL NULL 0.009 - - - no_errors PNLIPRP2 HGNC PRPSAP1 5635 genome.wustl.edu 37 17 74324917 74324917 + Missense_Mutation SNP C C T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 17 74324917 74324917 C T SNP PRPSAP1 ENST00000446526 human ensembl 70_37 -1 known missense c.662 p.R221H 1.000 tigrfam_Rib-P_diPkinase tigrfam_Rib-P_diPkinase - no_errors PRPSAP1 HGNC PTGDR 5729 genome.wustl.edu 37 14 52735240 52735240 + Silent SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 14 52735240 52735240 G A SNP PTGDR ENST00000306051 human ensembl 70_37 +1 known silent c.708 p.P236 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Pglndn_D_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Pglndn_D_rcpt,prints_Prostanoid_rcpt - no_errors PTGDR HGNC RBM27 54439 genome.wustl.edu 37 5 145651103 145651103 + Nonsense_Mutation SNP C C T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 5 145651103 145651103 C T SNP RBM27 ENST00000265271 human ensembl 70_37 +1 known nonsense c.2854 p.R952* 1.000 NULL pfam_PWI,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM27 HGNC RGS3 5998 genome.wustl.edu 37 9 116359190 116359190 + Missense_Mutation SNP A A G TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 9 116359190 116359190 A G SNP RGS3 ENST00000350696 human ensembl 70_37 +1 known missense c.3554 p.Y1185C 1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal pfam_Regulat_G_prot_signal,pfam_C2_Ca-dep,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,smart_C2_Ca-dep,smart_PDZ,smart_Regulat_G_prot_signal,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS3 HGNC RIMS2 9699 genome.wustl.edu 37 8 105235920 105235920 + Missense_Mutation SNP G G T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 8 105235920 105235920 G T SNP RIMS2 ENST00000339750 human ensembl 70_37 +1 known missense c.41 p.R14L 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors RIMS2 HGNC RLBP1 6017 genome.wustl.edu 37 15 89760507 89760507 + Nonsense_Mutation SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 15 89760507 89760507 G A SNP RLBP1 ENST00000268125 human ensembl 70_37 -1 known nonsense c.190 p.R64* 1.000 pfam_CRAL/TRIO_N_dom,superfamily_CRAL/TRIO_N_dom pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors RLBP1 HGNC RNF125 54941 genome.wustl.edu 37 18 29648335 29648335 + Silent SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 18 29648335 29648335 G A SNP RNF125 ENST00000217740 human ensembl 70_37 +1 known silent c.687 p.S229 0.324 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF125 HGNC RNF17 56163 genome.wustl.edu 37 13 25451154 25451154 + Missense_Mutation SNP C C T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 13 25451154 25451154 C T SNP RNF17 ENST00000255324 human ensembl 70_37 +1 known missense c.4603 p.H1535Y 0.015 pfam_Tudor,smart_Tudor,pfscan_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING - no_errors RNF17 HGNC RPAP2 79871 genome.wustl.edu 37 1 92789846 92789846 + Missense_Mutation SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 1 92789846 92789846 G A SNP RPAP2 ENST00000370343 human ensembl 70_37 +1 known missense c.1369 p.E457K 0.525 NULL pfam_DUF408 - no_errors RPAP2 HGNC RXFP1 59350 genome.wustl.edu 37 4 159568153 159568153 + Missense_Mutation SNP G G C TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 4 159568153 159568153 G C SNP RXFP1 ENST00000307765 human ensembl 70_37 +1 known missense c.1556 p.R519T 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt - no_errors RXFP1 HGNC SERPINB9 5272 genome.wustl.edu 37 6 2890801 2890801 + Nonsense_Mutation SNP C C A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 6 2890801 2890801 C A SNP SERPINB9 ENST00000380698 human ensembl 70_37 -1 known nonsense c.727 p.E243* 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Serpin_B9/Maspin - no_errors SERPINB9 HGNC SLC18B1 116843 genome.wustl.edu 37 6 133111362 133111362 + Splice_Site SNP C C T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 6 133111362 133111362 C T SNP SLC18B1 ENST00000367918 human ensembl 70_37 -1 known splice_site c.232+1 e3+1 1.000 - - - no_errors SLC18B1 HGNC SLFN13 146857 genome.wustl.edu 37 17 33772595 33772595 + Missense_Mutation SNP C C A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 17 33772595 33772595 C A SNP SLFN13 ENST00000285013 human ensembl 70_37 -1 known missense c.105 p.Q35H 0.000 NULL pfam_ATPase_AAA-4,pfam_DUF2075 - no_errors SLFN13 HGNC SPATA5L1 79029 genome.wustl.edu 37 15 45707786 45707787 + Frame_Shift_Ins INS - - ATTTC TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 15 45707786 45707787 - ATTTC INS SPATA5L1 ENST00000305560 human ensembl 70_37 +1 known frame_shift_ins c.1646_1647 p.R551fs 1.000:0.981 pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase - no_errors SPATA5L1 HGNC STXBP4 252983 genome.wustl.edu 37 17 53077107 53077107 + Silent SNP C C G TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 17 53077107 53077107 C G SNP STXBP4 ENST00000376352 human ensembl 70_37 +1 known silent c.402 p.A134 0.055 NULL pfam_WW_Rsp5_WWP,pfam_PDZ,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP - no_errors STXBP4 HGNC SUV39H2 79723 genome.wustl.edu 37 10 14938928 14938928 + Missense_Mutation SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 10 14938928 14938928 G A SNP SUV39H2 ENST00000378331 human ensembl 70_37 +1 known missense c.115 p.V39I 0.917 NULL NULL - no_errors SUV39H2 HGNC TBX4 9496 genome.wustl.edu 37 17 59533881 59533881 + Silent SNP C C T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 17 59533881 59533881 C T SNP TBX4 ENST00000393853 human ensembl 70_37 +1 known silent c.30 p.S10 0.996 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box - no_errors TBX4 HGNC TFAP2E 339488 genome.wustl.edu 37 1 36056287 36056287 + Missense_Mutation SNP C C A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 1 36056287 36056287 C A SNP TFAP2E ENST00000373235 human ensembl 70_37 +1 known missense c.957 p.F319L 1.000 pfam_TF_AP2_C pfam_TF_AP2_C,prints_TF_AP2_C - no_errors TFAP2E HGNC TIMM44 10469 genome.wustl.edu 37 19 7992965 7992965 + Silent SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 19 7992965 7992965 G A SNP TIMM44 ENST00000270538 human ensembl 70_37 -1 known silent c.1125 p.V375 0.002 pfam_Tim44-related/Ribosome_L45,smart_Tim44-related/Ribosome_L45,pirsf_Tim44,tigrfam_Tim44 pfam_Tim44-related/Ribosome_L45,smart_Tim44-related/Ribosome_L45,pirsf_Tim44,tigrfam_Tim44 - no_errors TIMM44 HGNC TMEM14B 81853 genome.wustl.edu 37 6 10756863 10756864 + RNA INS - - AA TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 6 10756863 10756864 - AA INS TMEM14B ENST00000486421 human ensembl 70_37 +1 known rna NULL NULL 0.029:0.005 - - - no_errors TMEM14B HGNC TPRXL 348825 genome.wustl.edu 37 3 14106354 14106354 + Silent SNP C C T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 3 14106354 14106354 C T SNP TPRXL ENST00000326972 human ensembl 70_37 +1 known silent c.678 p.S226 0.580 NULL NULL - no_errors TPRXL HGNC TRAF7 84231 genome.wustl.edu 37 16 2223241 2223241 + Missense_Mutation SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 16 2223241 2223241 G A SNP TRAF7 ENST00000326181 human ensembl 70_37 +1 known missense c.853 p.E285K 1.000 superfamily_TRAF-like,pfscan_Znf_TRAF pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_TRAF-like,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_Znf_TRAF,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TRAF7 HGNC TRANK1 9881 genome.wustl.edu 37 3 36874141 36874141 + Silent SNP G G T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 3 36874141 36874141 G T SNP TRANK1 ENST00000429976 human ensembl 70_37 -1 known silent c.6801 p.I2267 0.685 NULL pfam_UvrD-like_ATP-bd,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC TRHR 7201 genome.wustl.edu 37 8 110100474 110100474 + Silent SNP C C T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 8 110100474 110100474 C T SNP TRHR ENST00000311762 human ensembl 70_37 +1 known silent c.733 p.L245 0.060 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Trelhrm_rcpt,prints_Thyrotropin_RHR,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors TRHR HGNC TSSK2 23617 genome.wustl.edu 37 22 19119974 19119974 + Silent SNP G G T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 22 19119974 19119974 G T SNP TSSK2 ENST00000399635 human ensembl 70_37 +1 known silent c.1062 p.G354 0.998 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TSSK2 HGNC TTN 7273 genome.wustl.edu 37 2 179482768 179482768 + Silent SNP C C T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 2 179482768 179482768 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.39606 p.V13202 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC WDR6 11180 genome.wustl.edu 37 3 49048913 49048913 + Missense_Mutation SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 3 49048913 49048913 G A SNP WDR6 ENST00000452875 human ensembl 70_37 +1 known missense c.160 p.E54K 0.057 NULL NULL - no_errors WDR6 HGNC WDR6 11180 genome.wustl.edu 37 3 49049889 49049889 + Missense_Mutation SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 3 49049889 49049889 G A SNP WDR6 ENST00000395474 human ensembl 70_37 +1 known missense c.1012 p.E338K 0.899 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR6 HGNC WDR6 11180 genome.wustl.edu 37 3 49049891 49049891 + Silent SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 3 49049891 49049891 G A SNP WDR6 ENST00000395474 human ensembl 70_37 +1 known silent c.1014 p.E338 0.993 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR6 HGNC WDR6 11180 genome.wustl.edu 37 3 49049972 49049972 + Silent SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 3 49049972 49049972 G A SNP WDR6 ENST00000395474 human ensembl 70_37 +1 known silent c.1095 p.L365 0.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR6 HGNC WDR6 11180 genome.wustl.edu 37 3 49050409 49050409 + Missense_Mutation SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 3 49050409 49050409 G A SNP WDR6 ENST00000395474 human ensembl 70_37 +1 known missense c.1532 p.R511H 0.215 superfamily_Quino_amine_DH_bsu,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR6 HGNC WDR6 11180 genome.wustl.edu 37 3 49052061 49052061 + Missense_Mutation SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 3 49052061 49052061 G A SNP WDR6 ENST00000395474 human ensembl 70_37 +1 known missense c.2902 p.D968N 0.999 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR6 HGNC WNK3 65267 genome.wustl.edu 37 X 54263681 54263681 + Missense_Mutation SNP C C T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 X 54263681 54263681 C T SNP WNK3 ENST00000354646 human ensembl 70_37 -1 known missense c.4318 p.E1440K 1.000 NULL 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 ZC3H7B 23264 genome.wustl.edu 37 22 41716682 41716682 + Silent SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 22 41716682 41716682 G A SNP ZC3H7B ENST00000351589 human ensembl 70_37 +1 known silent c.18 p.R6 1.000 NULL pfam_Znf_CCCH,pfam_TPR-1,smart_TPR_repeat,smart_Znf_CCCH,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ZC3H7B HGNC ZNF66 7617 genome.wustl.edu 37 19 20988925 20988925 + Silent SNP C C T TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d1169c82-e50f-40d1-914f-b4d8c93a7a3a 366c8a6f-319f-4909-92f1-a66f6f7114b1 19 20988925 20988925 C T SNP ZNF66P ENST00000425625 human ensembl 70_37 +1 known silent c.657 p.C219 0.001 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF66P HGNC