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 ABCC11 85320 genome.wustl.edu 37 16 48212593 48212593 + Missense_Mutation SNP G G T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 16 48212593 48212593 G T SNP ABCC11 ENST00000356608 human ensembl 70_37 -1 known missense c.3263 p.A1088E 0.973 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC11 HGNC AHNAK2 113146 genome.wustl.edu 37 14 105417627 105417627 + Silent SNP G G A TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 14 105417627 105417627 G A SNP AHNAK2 ENST00000333244 human ensembl 70_37 -1 known silent c.4161 p.L1387 0.003 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ANKRD31 256006 genome.wustl.edu 37 5 74413999 74413999 + Missense_Mutation SNP C C G TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 5 74413999 74413999 C G SNP ANKRD31 ENST00000274361 human ensembl 70_37 -1 known missense c.3829 p.E1277Q 0.869 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD31 HGNC BACH1 571 genome.wustl.edu 37 21 30714889 30714889 + Missense_Mutation SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 21 30714889 30714889 C T SNP BACH1 ENST00000286800 human ensembl 70_37 +1 known missense c.1946 p.S649L 0.873 NULL pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_Euk_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH1 HGNC BCDIN3D 144233 genome.wustl.edu 37 12 50236730 50236730 + Missense_Mutation SNP G G A TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 12 50236730 50236730 G A SNP BCDIN3D ENST00000550861 human ensembl 70_37 -1 putative missense c.119 p.S40F 0.998 NULL NULL - no_errors BCDIN3D HGNC C11orf21 29125 genome.wustl.edu 37 11 2322040 2322040 + RNA SNP C C G TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 11 2322040 2322040 C G SNP C11orf21 ENST00000470369 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors C11orf21 HGNC CAPN12 147968 genome.wustl.edu 37 19 39230771 39230771 + Silent SNP G G A TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 19 39230771 39230771 G A SNP CAPN12 ENST00000328867 human ensembl 70_37 -1 known silent c.649 p.L217 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease 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 CAPN12 HGNC CCDC141 285025 genome.wustl.edu 37 2 179714862 179714862 + Missense_Mutation SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 2 179714862 179714862 C T SNP CCDC141 ENST00000420890 human ensembl 70_37 -1 known missense c.3271 p.E1091K 1.000 NULL pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CCDC141 HGNC CEP44 80817 genome.wustl.edu 37 4 175224923 175224923 + Missense_Mutation SNP G G A TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 4 175224923 175224923 G A SNP CEP44 ENST00000426172 human ensembl 70_37 +1 known missense c.307 p.E103K 1.000 NULL NULL - no_errors CEP44 HGNC DERL1 79139 genome.wustl.edu 37 8 124033739 124033739 + Missense_Mutation SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 8 124033739 124033739 C T SNP DERL1 ENST00000259512 human ensembl 70_37 -1 known missense c.454 p.A152T 1.000 pfam_DER1 pfam_DER1 - no_errors DERL1 HGNC DLEC1 9940 genome.wustl.edu 37 3 38080893 38080893 + Silent SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 3 38080893 38080893 C T SNP DLEC1 ENST00000346219 human ensembl 70_37 +1 known silent c.177 p.F59 0.000 NULL superfamily_PapD-like - no_errors DLEC1 HGNC DNAH10 196385 genome.wustl.edu 37 12 124345682 124345682 + Missense_Mutation SNP G G T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 12 124345682 124345682 G T SNP DNAH10 ENST00000409039 human ensembl 70_37 +1 known missense c.6519 p.R2173S 1.000 pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase 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 DPYSL5 56896 genome.wustl.edu 37 2 27164947 27164947 + Missense_Mutation SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 2 27164947 27164947 C T SNP DPYSL5 ENST00000288699 human ensembl 70_37 +1 known missense c.1219 p.P407S 1.000 superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL5 HGNC EGFL6 25975 genome.wustl.edu 37 X 13636149 13636149 + Missense_Mutation SNP G G A TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e X 13636149 13636149 G A SNP EGFL6 ENST00000380602 human ensembl 70_37 +1 known missense c.1079 p.R360Q 0.000 NULL pfam_MAM_dom,pfam_EGF-like_Ca-bd,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_MAM_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors EGFL6 HGNC ENSG00000231689 0 genome.wustl.edu 37 2 189093056 189093056 + RNA SNP G G T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 2 189093056 189093056 G T SNP ENSG00000231689 ENST00000415357 human ensembl 70_37 -1 known rna NULL NULL 0.998 - - - no_errors AC068718.1 Clone_based_vega_gene EYS 346007 genome.wustl.edu 37 6 64431264 64431264 + Missense_Mutation SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 6 64431264 64431264 C T SNP EYS ENST00000370616 human ensembl 70_37 -1 known missense c.8726 p.G2909D 0.999 smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC FAM63A 55793 genome.wustl.edu 37 1 150975116 150975116 + Missense_Mutation SNP G G C TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 1 150975116 150975116 G C SNP FAM63A ENST00000361738 human ensembl 70_37 -1 known missense c.122 p.P41R 0.000 NULL pfam_DUF544 - no_errors FAM63A HGNC FAM78B 149297 genome.wustl.edu 37 1 166039976 166039976 + Missense_Mutation SNP C C G TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 1 166039976 166039976 C G SNP FAM78B ENST00000338353 human ensembl 70_37 -1 known missense c.288 p.L96F 1.000 NULL NULL - no_errors FAM78B HGNC GPC4 2239 genome.wustl.edu 37 X 132548981 132548981 + Missense_Mutation SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e X 132548981 132548981 C T SNP GPC4 ENST00000370828 human ensembl 70_37 -1 known missense c.13 p.G5S 0.081 NULL pfam_Glypican - no_errors GPC4 HGNC HDAC4 9759 genome.wustl.edu 37 2 240098187 240098187 + Missense_Mutation SNP G G A TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 2 240098187 240098187 G A SNP HDAC4 ENST00000345617 human ensembl 70_37 -1 known missense c.412 p.R138C 1.000 pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC4 HGNC HLA-V 352962 genome.wustl.edu 37 6 29760373 29760373 + RNA SNP A A C TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 6 29760373 29760373 A C SNP HLA-V ENST00000399243 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors HLA-V HGNC IL8 3576 genome.wustl.edu 37 4 74606440 74606441 + Splice_Site INS - - T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 4 74606440 74606441 - T INS IL8 ENST00000307407 human ensembl 70_37 +1 known splice_site_ins c.64+1_64+1 e1+1 1.000:1.000 - - - no_errors IL8 HGNC IPO9 55705 genome.wustl.edu 37 1 201798396 201798396 + Missense_Mutation SNP G G A TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 1 201798396 201798396 G A SNP IPO9 ENST00000361565 human ensembl 70_37 +1 known missense c.59 p.G20E 0.996 NULL pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO9 HGNC JUP 3728 genome.wustl.edu 37 17 39913930 39913930 + Missense_Mutation SNP G G A TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 17 39913930 39913930 G A SNP JUP ENST00000310706 human ensembl 70_37 -1 known missense c.1880 p.S627L 0.995 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors JUP HGNC KCNK6 9424 genome.wustl.edu 37 19 38818030 38818030 + Missense_Mutation SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 19 38818030 38818030 C T SNP KCNK6 ENST00000263372 human ensembl 70_37 +1 known missense c.929 p.S310F 1.000 pirsf_2pore_dom_K_chnl_TASK/TWIK pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl_TWIK2,prints_2pore_dom_K_chnl_TWIK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TWIK1 - no_errors KCNK6 HGNC KIAA0754 643314 genome.wustl.edu 37 1 39878480 39878480 + Missense_Mutation SNP A A T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 1 39878480 39878480 A T SNP KIAA0754 ENST00000530275 human ensembl 70_37 +1 known missense c.2135 p.D712V 0.005 NULL NULL - no_errors KIAA0754 HGNC KIF1A 547 genome.wustl.edu 37 2 241685531 241685531 + Missense_Mutation SNP G G A TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 2 241685531 241685531 G A SNP KIF1A ENST00000498729 human ensembl 70_37 -1 known missense c.3127 p.R1043C 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1A HGNC KIF7 374654 genome.wustl.edu 37 15 90171708 90171708 + Missense_Mutation SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 15 90171708 90171708 C T SNP KIF7 ENST00000394412 human ensembl 70_37 -1 known missense c.3974 p.R1325Q 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF7 HGNC KLHDC7A 127707 genome.wustl.edu 37 1 18807595 18807595 + Silent SNP G G A TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 1 18807595 18807595 G A SNP KLHDC7A ENST00000400664 human ensembl 70_37 +1 known silent c.120 p.S40 0.940 NULL pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7A HGNC KLRG2 346689 genome.wustl.edu 37 7 139164445 139164445 + Silent SNP C C A TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 7 139164445 139164445 C A SNP KLRG2 ENST00000340940 human ensembl 70_37 -1 known silent c.933 p.A311 0.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors KLRG2 HGNC KPNA1 3836 genome.wustl.edu 37 3 122152575 122152575 + Missense_Mutation SNP G G A TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 3 122152575 122152575 G A SNP KPNA1 ENST00000344337 human ensembl 70_37 -1 known missense c.1183 p.R395W 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA1 HGNC LINC00085 147650 genome.wustl.edu 37 19 52206523 52206523 + RNA SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 19 52206523 52206523 C T SNP LINC00085 ENST00000573266 human ensembl 70_37 +1 known rna NULL NULL 0.550 - - - no_errors LINC00085 HGNC LZTR1 8216 genome.wustl.edu 37 22 21345972 21345972 + Missense_Mutation SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 22 21345972 21345972 C T SNP LZTR1 ENST00000215739 human ensembl 70_37 +1 known missense c.847 p.R283W 1.000 pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1 pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors LZTR1 HGNC MAGEB10 139422 genome.wustl.edu 37 X 27839694 27839694 + Missense_Mutation SNP G G A TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e X 27839694 27839694 G A SNP MAGEB10 ENST00000356790 human ensembl 70_37 +1 known missense c.271 p.E91K 0.000 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB10 HGNC MST1R 4486 genome.wustl.edu 37 3 49939929 49939929 + Missense_Mutation SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 3 49939929 49939929 C T SNP MST1R ENST00000296474 human ensembl 70_37 -1 known missense c.1114 p.D372N 0.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MST1R HGNC MUC16 94025 genome.wustl.edu 37 19 9057477 9057477 + Missense_Mutation SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 19 9057477 9057477 C T SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.29969 p.R9990K 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC MUC16 94025 genome.wustl.edu 37 19 9058918 9058918 + Missense_Mutation SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 19 9058918 9058918 C T SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.28528 p.E9510K 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC MYC 4609 genome.wustl.edu 37 8 128750880 128750880 + Silent SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 8 128750880 128750880 C T SNP MYC ENST00000377970 human ensembl 70_37 +1 known silent c.417 p.F139 1.000 pfam_Tscrpt_reg_Myc_N pfam_Tscrpt_reg_Myc_N,pfam_Myc-LZ,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom,prints_Tscrpt_reg_Myc - no_errors MYC HGNC NACAD 23148 genome.wustl.edu 37 7 45125156 45125156 + Missense_Mutation SNP A A G TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 7 45125156 45125156 A G SNP NACAD ENST00000490531 human ensembl 70_37 -1 known missense c.623 p.L208P 0.992 NULL pfam_Nas_poly-pep-assoc_cplx,pfscan_Nas_poly-pep-assoc_cplx - no_errors NACAD HGNC NDUFA8 4702 genome.wustl.edu 37 9 124906636 124906636 + Nonsense_Mutation SNP G G A TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 9 124906636 124906636 G A SNP NDUFA8 ENST00000373768 human ensembl 70_37 -1 known nonsense c.403 p.R135* 1.000 pirsf_NADH_Ub_cplx-1_asu_su-8 pfam_CHCH,pirsf_NADH_Ub_cplx-1_asu_su-8 - no_errors NDUFA8 HGNC NOTCH4 4855 genome.wustl.edu 37 6 32188317 32188317 + Missense_Mutation SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 6 32188317 32188317 C T SNP NOTCH4 ENST00000375023 human ensembl 70_37 -1 known missense c.1024 p.V342M 1.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_4,prints_Notch_dom - no_errors NOTCH4 HGNC NRXN1 9378 genome.wustl.edu 37 2 50148111 50148112 + RNA INS - - AAGT TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 2 50148111 50148112 - AAGT INS NRXN1 ENST00000484192 human ensembl 70_37 -1 known rna NULL NULL 0.004:0.237 - - - no_errors NRXN1 HGNC FFAR4 338557 genome.wustl.edu 37 10 95326827 95326827 + Missense_Mutation SNP T T G TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 10 95326827 95326827 T G SNP O3FAR1 ENST00000371483 human ensembl 70_37 +1 known missense c.350 p.V117G 0.986 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors O3FAR1 HGNC OR10AB1P 390091 genome.wustl.edu 37 11 7749644 7749644 + Missense_Mutation SNP G G A TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 11 7749644 7749644 G A SNP OR10AB1P ENST00000317359 human ensembl 70_37 +1 known missense c.13 p.E5K 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR10AB1P HGNC PAF1 54623 genome.wustl.edu 37 19 39876993 39876993 + Missense_Mutation SNP C C G TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 19 39876993 39876993 C G SNP PAF1 ENST00000221265 human ensembl 70_37 -1 known missense c.1234 p.E412Q 1.000 pfam_RNA_pol_II-assoc_Paf1 pfam_RNA_pol_II-assoc_Paf1 - no_errors PAF1 HGNC PAWR 5074 genome.wustl.edu 37 12 80083663 80083663 + Missense_Mutation SNP G G A TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 12 80083663 80083663 G A SNP PAWR ENST00000328827 human ensembl 70_37 -1 known missense c.362 p.P121L 0.001 NULL NULL - no_errors PAWR HGNC PCDH15 65217 genome.wustl.edu 37 10 55581942 55581942 + Silent SNP G G A TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 10 55581942 55581942 G A SNP PCDH15 ENST00000320301 human ensembl 70_37 -1 known silent c.5544 p.C1848 0.005 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC PCDHA8 56140 genome.wustl.edu 37 5 140220969 140220969 + Silent SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 5 140220969 140220969 C T SNP PCDHA8 ENST00000531613 human ensembl 70_37 +1 known silent c.63 p.L21 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA8 HGNC PCSK7 9159 genome.wustl.edu 37 11 117098005 117098005 + Missense_Mutation SNP C C G TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 11 117098005 117098005 C G SNP PCSK7 ENST00000320934 human ensembl 70_37 -1 known missense c.637 p.D213H 1.000 pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53 pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK7 HGNC PCSK7 9159 genome.wustl.edu 37 11 117098017 117098017 + Missense_Mutation SNP G G A TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 11 117098017 117098017 G A SNP PCSK7 ENST00000320934 human ensembl 70_37 -1 known missense c.625 p.L209F 1.000 pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53 pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK7 HGNC PCSK7 9159 genome.wustl.edu 37 11 117100428 117100428 + Missense_Mutation SNP C C G TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 11 117100428 117100428 C G SNP PCSK7 ENST00000320934 human ensembl 70_37 -1 known missense c.133 p.D45H 0.003 NULL pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK7 HGNC PDCD7 10081 genome.wustl.edu 37 15 65411147 65411147 + Missense_Mutation SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 15 65411147 65411147 C T SNP PDCD7 ENST00000204549 human ensembl 70_37 -1 known missense c.1366 p.D456N 0.991 NULL NULL - no_errors PDCD7 HGNC PGAP2 27315 genome.wustl.edu 37 11 3846311 3846311 + Missense_Mutation SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 11 3846311 3846311 C T SNP PGAP2 ENST00000278243 human ensembl 70_37 +1 known missense c.770 p.S257L 0.991 pfam_Frag1/DRAM/Sfk1 pfam_Frag1/DRAM/Sfk1 - no_errors PGAP2 HGNC POGK 57645 genome.wustl.edu 37 1 166818801 166818801 + Missense_Mutation SNP C C A TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 1 166818801 166818801 C A SNP POGK ENST00000367875 human ensembl 70_37 +1 known missense c.985 p.Q329K 1.000 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_Brinker_DNA-bd,pfam_HTH_CenpB_DNA-bd_dom,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,superfamily_Homeodomain-like,smart_Krueppel-associated_box,smart_HTH_CenpB_DNA-bd_dom,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors POGK HGNC PRKAA2 5563 genome.wustl.edu 37 1 57173318 57173318 + Missense_Mutation SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 1 57173318 57173318 C T SNP PRKAA2 ENST00000371244 human ensembl 70_37 +1 known missense c.1591 p.R531C 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors PRKAA2 HGNC PRKCDBP 112464 genome.wustl.edu 37 11 6341326 6341326 + Missense_Mutation SNP G G C TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 11 6341326 6341326 G C SNP PRKCDBP ENST00000303927 human ensembl 70_37 -1 known missense c.381 p.F127L 1.000 NULL NULL - no_errors PRKCDBP HGNC PSD 5662 genome.wustl.edu 37 10 104176486 104176486 + Missense_Mutation SNP G G A TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 10 104176486 104176486 G A SNP PSD ENST00000020673 human ensembl 70_37 -1 known missense c.310 p.R104C 1.000 NULL pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7,prints_PH_dom-spectrin-type - no_errors PSD HGNC PWWP2A 114825 genome.wustl.edu 37 5 159520131 159520131 + Missense_Mutation SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 5 159520131 159520131 C T SNP PWWP2A ENST00000307063 human ensembl 70_37 -1 known missense c.1526 p.R509H 1.000 NULL pfam_PWWP,smart_PWWP,pfscan_PWWP - no_errors PWWP2A HGNC RHPN2 85415 genome.wustl.edu 37 19 33493743 33493743 + Silent SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 19 33493743 33493743 C T SNP RHPN2 ENST00000254260 human ensembl 70_37 -1 known silent c.924 p.V308 0.994 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfam_HR1_rho-bd,superfamily_HR1_rho-bd,superfamily_PDZ,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom - no_errors RHPN2 HGNC RYR2 6262 genome.wustl.edu 37 1 237787089 237787089 + Missense_Mutation SNP G G A TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 1 237787089 237787089 G A SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known missense c.5935 p.D1979N 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC SCPEP1 59342 genome.wustl.edu 37 17 55055543 55055543 + Missense_Mutation SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 17 55055543 55055543 C T SNP SCPEP1 ENST00000262288 human ensembl 70_37 +1 known missense c.23 p.S8F 0.000 NULL pfam_Peptidase_S10,prints_Peptidase_S10 - no_errors SCPEP1 HGNC SERPINA10 51156 genome.wustl.edu 37 14 94756352 94756352 + Missense_Mutation SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 14 94756352 94756352 C T SNP SERPINA10 ENST00000261994 human ensembl 70_37 -1 known missense c.579 p.M193I 0.174 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA10 HGNC SETMAR 6419 genome.wustl.edu 37 3 4345118 4345118 + Missense_Mutation SNP G G A TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 3 4345118 4345118 G A SNP SETMAR ENST00000358065 human ensembl 70_37 +1 known missense c.64 p.E22K 0.006 NULL pfam_Transposase_1,pfam_SET_dom,pfam_Pre-SET_dom,pfam_Transposase_Tc1-like,pfam_Transposase_14,superfamily_Homeodomain-like,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom - no_errors SETMAR HGNC SLC6A17 388662 genome.wustl.edu 37 1 110738295 110738295 + Missense_Mutation SNP C C G TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 1 110738295 110738295 C G SNP SLC6A17 ENST00000331565 human ensembl 70_37 +1 known missense c.1580 p.S527W 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A17 HGNC SLC6A3 6531 genome.wustl.edu 37 5 1422122 1422122 + Missense_Mutation SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 5 1422122 1422122 C T SNP SLC6A3 ENST00000270349 human ensembl 70_37 -1 known missense c.661 p.V221M 0.998 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_dopamine - no_errors SLC6A3 HGNC SLC9A3 6550 genome.wustl.edu 37 5 476352 476353 + Frame_Shift_Ins INS - - T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 5 476352 476353 - T INS SLC9A3 ENST00000264938 human ensembl 70_37 -1 known frame_shift_ins c.2032_2031 p.A677fs 0.042:0.000 NULL pfam_Cation/H_exchanger,superfamily_Reg_factor_effector_bac,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A3 HGNC SNX19 399979 genome.wustl.edu 37 11 130775929 130775929 + Missense_Mutation SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 11 130775929 130775929 C T SNP SNX19 ENST00000265909 human ensembl 70_37 -1 known missense c.2362 p.E788K 0.001 NULL pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,superfamily_Phox,smart_PX_assoc_Snx13,smart_Phox,pfscan_Phox,pfscan_Phox_assoc - no_errors SNX19 HGNC SPTAN1 6709 genome.wustl.edu 37 9 131387373 131387373 + RNA SNP G G A TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 9 131387373 131387373 G A SNP SPTAN1 ENST00000491712 human ensembl 70_37 +1 known rna NULL NULL 0.008 - - - no_errors SPTAN1 HGNC STK10 6793 genome.wustl.edu 37 5 171491807 171491807 + Missense_Mutation SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 5 171491807 171491807 C T SNP STK10 ENST00000176763 human ensembl 70_37 -1 known missense c.1999 p.E667K 0.747 pfam_PKK pfam_PKK,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STK10 HGNC STXBP1 6812 genome.wustl.edu 37 9 130427590 130427590 + Missense_Mutation SNP G G A TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 9 130427590 130427590 G A SNP STXBP1 ENST00000373299 human ensembl 70_37 +1 known missense c.643 p.D215N 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors STXBP1 HGNC TAF4 6874 genome.wustl.edu 37 20 60574120 60574120 + Silent SNP G G A TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 20 60574120 60574120 G A SNP TAF4 ENST00000252996 human ensembl 70_37 -1 known silent c.2832 p.L944 1.000 pfam_TAF4 pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1 - no_errors TAF4 HGNC TRAF1 7185 genome.wustl.edu 37 9 123676541 123676541 + Missense_Mutation SNP G G A TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 9 123676541 123676541 G A SNP TRAF1 ENST00000373887 human ensembl 70_37 -1 known missense c.266 p.P89L 1.000 superfamily_TRAF-like,pirsf_TNF_rcpt--assoc_TRAF pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH - no_errors TRAF1 HGNC TRPM3 80036 genome.wustl.edu 37 9 73151768 73151768 + Missense_Mutation SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 9 73151768 73151768 C T SNP TRPM3 ENST00000423814 human ensembl 70_37 -1 known missense c.4306 p.E1436K 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM3 HGNC USP8 9101 genome.wustl.edu 37 15 50785054 50785054 + Silent SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 15 50785054 50785054 C T SNP USP8 ENST00000307179 human ensembl 70_37 +1 known silent c.2391 p.N797 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_DUF1873,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_Rsp5_WWP,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19 - no_errors USP8 HGNC VPS37A 137492 genome.wustl.edu 37 8 17137456 17137456 + Missense_Mutation SNP A A C TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 8 17137456 17137456 A C SNP VPS37A ENST00000520140 human ensembl 70_37 +1 known missense c.939 p.K313N 0.248 NULL superfamily_UBQ-conjugating_enzyme/RWD - no_errors VPS37A HGNC WT1 7490 genome.wustl.edu 37 11 32456360 32456360 + Missense_Mutation SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 11 32456360 32456360 C T SNP WT1 ENST00000332351 human ensembl 70_37 -1 known missense c.532 p.G178R 1.000 pfam_Wilms_tumour_N pfam_Wilms_tumour_N,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Wilms_tumour - no_errors WT1 HGNC ZNF83 55769 genome.wustl.edu 37 19 53117017 53117017 + Splice_Site SNP T T G TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 19 53117017 53117017 T G SNP ZNF83 ENST00000434535 human ensembl 70_37 -1 known splice_site c.799+2 e1+2 0.946 - - - no_errors ZNF83 HGNC ZRANB2 9406 genome.wustl.edu 37 1 71542532 71542533 + Frame_Shift_Ins INS - - T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 1 71542532 71542533 - T INS ZRANB2 ENST00000370920 human ensembl 70_37 -1 known frame_shift_ins c.247_246 p.S82fs 1.000:1.000 pfam_Znf_RanBP2,smart_Znf_RanBP2,pirsf_UCP037956_Znf_RanB2,pfscan_Znf_RanBP2 pfam_Znf_RanBP2,smart_Znf_RanBP2,pirsf_UCP037956_Znf_RanB2,pfscan_Znf_RanBP2 - no_errors ZRANB2 HGNC ZRANB2 9406 genome.wustl.edu 37 1 71542534 71542534 + Missense_Mutation SNP C C T TCGA-DG-A2KH-01A-21D-A22X-09 TCGA-DG-A2KH-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f012de18-28d4-4214-a883-8b0a74c598a0 cb6f6e3d-2272-47da-98ad-6bfe2ee8e25e 1 71542534 71542534 C T SNP ZRANB2 ENST00000370920 human ensembl 70_37 -1 known missense c.245 p.R82K 1.000 pfam_Znf_RanBP2,smart_Znf_RanBP2,pirsf_UCP037956_Znf_RanB2,pfscan_Znf_RanBP2 pfam_Znf_RanBP2,smart_Znf_RanBP2,pirsf_UCP037956_Znf_RanB2,pfscan_Znf_RanBP2 - no_errors ZRANB2 HGNC