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 ABCA7 10347 genome.wustl.edu 37 19 1050958 1050958 + Missense_Mutation SNP C C G TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 19 1050958 1050958 C G SNP ABCA7 ENST00000263094 human ensembl 70_37 +1 known missense c.2591 p.S864C 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA7 HGNC ABHD3 171586 genome.wustl.edu 37 18 19239206 19239206 + Missense_Mutation SNP T T C TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 18 19239206 19239206 T C SNP ABHD3 ENST00000289119 human ensembl 70_37 -1 known missense c.767 p.E256G 1.000 pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT - no_errors ABHD3 HGNC ANKRD30BL 554226 genome.wustl.edu 37 2 132911192 132911192 + Silent SNP G G A TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 2 132911192 132911192 G A SNP ANKRD30BL ENST00000295181 human ensembl 70_37 -1 known silent c.690 p.I230 0.046 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD30BL HGNC AOX2P 344454 genome.wustl.edu 37 2 201619758 201619759 + RNA DEL TG TG - TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 2 201619758 201619759 TG - DEL AOX2P ENST00000472376 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors AOX2P HGNC APOBEC3G 60489 genome.wustl.edu 37 22 39477172 39477172 + Missense_Mutation SNP C C T TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 22 39477172 39477172 C T SNP APOBEC3G ENST00000407997 human ensembl 70_37 +1 known missense c.406 p.R136C 0.000 pfam_APOBEC_C,superfamily_Cytidine_deaminase-like pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC3G HGNC AR 367 genome.wustl.edu 37 X 66937348 66937348 + Missense_Mutation SNP G G C TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b X 66937348 66937348 G C SNP AR ENST00000374690 human ensembl 70_37 +1 known missense c.2202 p.Q734H 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ATP10A 57194 genome.wustl.edu 37 15 25958932 25958932 + Missense_Mutation SNP C C T TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 15 25958932 25958932 C T SNP ATP10A ENST00000356865 human ensembl 70_37 -1 known missense c.2233 p.V745I 0.997 superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP10A HGNC BEND6 221336 genome.wustl.edu 37 6 56846694 56846694 + Nonsense_Mutation SNP C C G TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 6 56846694 56846694 C G SNP BEND6 ENST00000370746 human ensembl 70_37 +1 known nonsense c.86 p.S29* 1.000 NULL pfam_BEN_domain - no_errors BEND6 HGNC BVES 11149 genome.wustl.edu 37 6 105577278 105577278 + Silent SNP C C T TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 6 105577278 105577278 C T SNP BVES ENST00000314641 human ensembl 70_37 -1 known silent c.327 p.S109 0.094 NULL pfam_Popeye_prot,superfamily_cNMP-bd-like - no_errors BVES HGNC C16orf62 57020 genome.wustl.edu 37 16 19584549 19584549 + Missense_Mutation SNP G G A TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 16 19584549 19584549 G A SNP C16orf62 ENST00000438132 human ensembl 70_37 +1 known missense c.661 p.E221K 1.000 NULL NULL - no_errors C16orf62 HGNC C16orf82 162083 genome.wustl.edu 37 16 27079690 27079690 + RNA SNP C C G TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 16 27079690 27079690 C G SNP C16orf82 ENST00000418886 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors C16orf82 HGNC C9orf78 51759 genome.wustl.edu 37 9 132596001 132596001 + RNA DEL A A - TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 9 132596001 132596001 A - DEL C9orf78 ENST00000461762 human ensembl 70_37 -1 known rna NULL NULL 0.115 - - - no_errors C9orf78 HGNC CABP1 9478 genome.wustl.edu 37 12 121094061 121094061 + Missense_Mutation SNP G G A TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 12 121094061 121094061 G A SNP CABP1 ENST00000288616 human ensembl 70_37 +1 known missense c.211 p.E71K 0.999 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CABP1 HGNC CAMK1 8536 genome.wustl.edu 37 3 9802348 9802348 + Missense_Mutation SNP G G C TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 3 9802348 9802348 G C SNP CAMK1 ENST00000256460 human ensembl 70_37 -1 known missense c.737 p.S246C 1.000 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 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 CAMK1 HGNC CEP192 55125 genome.wustl.edu 37 18 13100368 13100368 + Missense_Mutation SNP C C G TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 18 13100368 13100368 C G SNP CEP192 ENST00000506447 human ensembl 70_37 +1 known missense c.6728 p.S2243C 0.775 NULL NULL - no_errors CEP192 HGNC CFHR5 81494 genome.wustl.edu 37 1 196977674 196977674 + Missense_Mutation SNP G G A TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 1 196977674 196977674 G A SNP CFHR5 ENST00000367414 human ensembl 70_37 +1 known missense c.1643 p.R548K 0.000 superfamily_Complement_control_module,smart_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR5 HGNC CHN2 1124 genome.wustl.edu 37 7 29552182 29552182 + Missense_Mutation SNP T T G TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 7 29552182 29552182 T G SNP CHN2 ENST00000539406 human ensembl 70_37 +1 known missense c.1463 p.V488G 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SH2,superfamily_Rho_GTPase_activation_prot,smart_SH2,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_DAG/PE-bd - no_errors CHN2 HGNC CNBD1 168975 genome.wustl.edu 37 8 88249229 88249229 + Silent SNP A A G TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 8 88249229 88249229 A G SNP CNBD1 ENST00000518476 human ensembl 70_37 +1 known silent c.660 p.G220 0.000 superfamily_cNMP-bd-like pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors CNBD1 HGNC CNTN2 6900 genome.wustl.edu 37 1 205039053 205039053 + Silent SNP C C A TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 1 205039053 205039053 C A SNP CNTN2 ENST00000331830 human ensembl 70_37 +1 known silent c.2295 p.G765 0.847 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN2 HGNC DEDD 9191 genome.wustl.edu 37 1 161091834 161091834 + RNA DEL C C - TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 1 161091834 161091834 C - DEL DEDD ENST00000486041 human ensembl 70_37 -1 known rna NULL NULL 0.032 - - - no_errors DEDD HGNC DFFA 1676 genome.wustl.edu 37 1 10532464 10532464 + Missense_Mutation SNP G G T TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 1 10532464 10532464 G T SNP DFFA ENST00000377038 human ensembl 70_37 -1 known missense c.52 p.L18I 0.339 pfam_CAD,pirsf_DNA_fragmentation_factor_asu,pfscan_CAD pfam_DNA_fragmentation_C,pfam_CAD,smart_CAD,pirsf_DNA_fragmentation_factor_asu,pfscan_CAD - no_errors DFFA HGNC FBN1 2200 genome.wustl.edu 37 15 48888524 48888524 + Missense_Mutation SNP C C T TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 15 48888524 48888524 C T SNP FBN1 ENST00000316623 human ensembl 70_37 -1 known missense c.494 p.R165Q 1.000 smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC FOXR2 139628 genome.wustl.edu 37 X 55650327 55650327 + Silent SNP G G A TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b X 55650327 55650327 G A SNP FOXR2 ENST00000339140 human ensembl 70_37 +1 known silent c.183 p.Q61 0.015 NULL pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head - no_errors FOXR2 HGNC GOLGA6C 653641 genome.wustl.edu 37 15 75557739 75557739 + Missense_Mutation SNP G G A TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 15 75557739 75557739 G A SNP GOLGA6C ENST00000300576 human ensembl 70_37 +1 known missense c.733 p.E245K 0.902 NULL NULL - no_errors GOLGA6C HGNC HEATR1 55127 genome.wustl.edu 37 1 236734921 236734921 + Missense_Mutation SNP C C T TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 1 236734921 236734921 C T SNP HEATR1 ENST00000366582 human ensembl 70_37 -1 known missense c.3773 p.C1258Y 1.000 superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC HELZ2 85441 genome.wustl.edu 37 20 62196447 62196447 + Missense_Mutation SNP C C T TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 20 62196447 62196447 C T SNP HELZ2 ENST00000467148 human ensembl 70_37 -1 known missense c.3728 p.R1243Q 0.000 NULL pfam_RNase_II/R,smart_RNase_II/R - no_errors HELZ2 HGNC HSPG2 3339 genome.wustl.edu 37 1 22170683 22170683 + Silent SNP G G A TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 1 22170683 22170683 G A SNP HSPG2 ENST00000374695 human ensembl 70_37 -1 known silent c.8574 p.V2858 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like - no_errors HSPG2 HGNC ITGA11 22801 genome.wustl.edu 37 15 68624760 68624760 + Silent SNP C C G TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 15 68624760 68624760 C G SNP ITGA11 ENST00000315757 human ensembl 70_37 -1 known silent c.1482 p.V494 0.030 pfam_FG-GAP,smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA11 HGNC KCNQ1 3784 genome.wustl.edu 37 11 2609969 2609969 + Missense_Mutation SNP C C G TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 11 2609969 2609969 C G SNP KCNQ1 ENST00000155840 human ensembl 70_37 +1 known missense c.1278 p.D426E 0.982 prints_K_chnl_volt-dep_KCQN1 pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCQN1,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ1 HGNC KIAA1875 340390 genome.wustl.edu 37 8 145166328 145166328 + Splice_Site SNP G G T TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 8 145166328 145166328 G T SNP KIAA1875 ENST00000323662 human ensembl 70_37 +1 putative splice_site c.2427-1 e11-1 0.980 - - - no_errors KIAA1875 HGNC KLK14 43847 genome.wustl.edu 37 19 51584836 51584836 + Silent SNP G G A TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 19 51584836 51584836 G A SNP KLK14 ENST00000156499 human ensembl 70_37 -1 known silent c.213 p.A71 0.927 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors KLK14 HGNC KTN1 3895 genome.wustl.edu 37 14 56103991 56103991 + Nonsense_Mutation SNP C C G TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 14 56103991 56103991 C G SNP KTN1 ENST00000395309 human ensembl 70_37 +1 known nonsense c.1625 p.S542* 1.000 NULL NULL - no_errors KTN1 HGNC LRRK2 120892 genome.wustl.edu 37 12 40645343 40645343 + Missense_Mutation SNP G G T TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 12 40645343 40645343 G T SNP LRRK2 ENST00000298910 human ensembl 70_37 +1 known missense c.1178 p.G393V 0.989 superfamily_ARM-type_fold 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 MAP1LC3A 84557 genome.wustl.edu 37 20 33147555 33147555 + Silent SNP G G C TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 20 33147555 33147555 G C SNP MAP1LC3A ENST00000360668 human ensembl 70_37 +1 known silent c.219 p.L73 1.000 pfam_Atg8_ubiquitin-like,pfam_Autophagy-rel_prot_12 pfam_Atg8_ubiquitin-like,pfam_Autophagy-rel_prot_12 - no_errors MAP1LC3A HGNC MDC1 9656 genome.wustl.edu 37 6 30671436 30671436 + Missense_Mutation SNP C C T TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 6 30671436 30671436 C T SNP MDC1 ENST00000376406 human ensembl 70_37 -1 known missense c.5524 p.E1842K 0.649 NULL pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC MT-ATP6 4508 genome.wustl.edu 37 MT 8701 8701 + Missense_Mutation SNP A A G TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b MT 8701 8701 A G SNP MT-ATP6 ENST00000361899 human ensembl 70_37 +1 known missense c.175 p.T59A NULL pfam_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu - no_errors MT-ATP6 HGNC MUC5B 727897 genome.wustl.edu 37 11 1265856 1265856 + Silent SNP C C T TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 11 1265856 1265856 C T SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known silent c.7755 p.T2585 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC MUC5B 727897 genome.wustl.edu 37 11 1265936 1265936 + Missense_Mutation SNP T T C TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 11 1265936 1265936 T C SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known missense c.7835 p.L2612P 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC MYL9 10398 genome.wustl.edu 37 20 35173466 35173466 + Missense_Mutation SNP C C T TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 20 35173466 35173466 C T SNP MYL9 ENST00000279022 human ensembl 70_37 +1 known missense c.179 p.S60L 1.000 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors MYL9 HGNC NLRP8 126205 genome.wustl.edu 37 19 56463942 56463942 + Nonsense_Mutation SNP G G T TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 19 56463942 56463942 G T SNP NLRP8 ENST00000291971 human ensembl 70_37 +1 known nonsense c.406 p.G136* 0.000 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP8 HGNC NOP56 10528 genome.wustl.edu 37 20 2635525 2635525 + Missense_Mutation SNP G G A TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 20 2635525 2635525 G A SNP NOP56 ENST00000329276 human ensembl 70_37 +1 known missense c.501 p.M167I 1.000 pfam_NOSIC,smart_NOSIC pfam_SnoRNA-bd_dom,pfam_NOSIC,pfam_NOP5_N,smart_NOSIC - no_errors NOP56 HGNC NSD1 64324 genome.wustl.edu 37 5 176562700 176562700 + Missense_Mutation SNP C C T TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 5 176562700 176562700 C T SNP NSD1 ENST00000439151 human ensembl 70_37 +1 known missense c.596 p.S199L 1.000 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC OR10Z1 128368 genome.wustl.edu 37 1 158576486 158576487 + Frame_Shift_Ins INS - - G TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 1 158576486 158576487 - G INS OR10Z1 ENST00000361284 human ensembl 70_37 +1 known frame_shift_ins c.258_259 p.D88fs 0.000:0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10Z1 HGNC PAK7 57144 genome.wustl.edu 37 20 9561269 9561269 + Silent SNP G G A TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 20 9561269 9561269 G A SNP PAK7 ENST00000353224 human ensembl 70_37 -1 known silent c.513 p.H171 0.021 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom - no_errors PAK7 HGNC RAD9B 144715 genome.wustl.edu 37 12 110957694 110957694 + Missense_Mutation SNP C C T TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 12 110957694 110957694 C T SNP RAD9B ENST00000392672 human ensembl 70_37 +1 known missense c.863 p.S288L 0.101 pirsf_Rad9 pfam_Rad9/Ddc1,pirsf_Rad9 - no_errors RAD9B HGNC RASAL2 9462 genome.wustl.edu 37 1 178411962 178411962 + Missense_Mutation SNP G G T TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 1 178411962 178411962 G T SNP RASAL2 ENST00000367649 human ensembl 70_37 +1 known missense c.1080 p.W360C 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_DUF3498,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PP1_inhibitor,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors RASAL2 HGNC RBM12 10137 genome.wustl.edu 37 20 34242510 34242510 + Silent SNP C C T TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 20 34242510 34242510 C T SNP RBM12 ENST00000359646 human ensembl 70_37 -1 known silent c.735 p.P245 0.836 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM12 HGNC RERGL 79785 genome.wustl.edu 37 12 18238556 18238556 + Nonsense_Mutation SNP G G A TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 12 18238556 18238556 G A SNP RERGL ENST00000229002 human ensembl 70_37 -1 known nonsense c.184 p.Q62* 1.000 pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type - no_errors RERGL HGNC RGPD3 653489 genome.wustl.edu 37 2 107049624 107049624 + Missense_Mutation SNP C C G TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 2 107049624 107049624 C G SNP RGPD3 ENST00000304514 human ensembl 70_37 -1 known missense c.2323 p.E775Q 1.000 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD3 HGNC RGPD4 285190 genome.wustl.edu 37 2 108479255 108479255 + Missense_Mutation SNP G G C TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 2 108479255 108479255 G C SNP RGPD4 ENST00000354986 human ensembl 70_37 +1 known missense c.2323 p.E775Q 0.997 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC SERPINB11 89778 genome.wustl.edu 37 18 61322841 61322841 + RNA SNP G G T TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 18 61322841 61322841 G T SNP SERPINB11 ENST00000489748 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SERPINB11 HGNC SFRP2 6423 genome.wustl.edu 37 4 154709955 154709956 + In_Frame_Ins INS - - AGC TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 4 154709955 154709956 - AGC INS SFRP2 ENST00000274063 human ensembl 70_37 -1 known in_frame_ins c.33_32 p.12in_frame_insL 0.009:0.677 NULL pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain - no_errors SFRP2 HGNC SGK223 157285 genome.wustl.edu 37 8 8185835 8185835 + Silent SNP C C T TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 8 8185835 8185835 C T SNP SGK223 ENST00000330777 human ensembl 70_37 -1 known silent c.2457 p.V819 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors SGK223 Uniprot_genename SH3BP1 23616 genome.wustl.edu 37 22 38041472 38041472 + Silent SNP C C T TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 22 38041472 38041472 C T SNP SH3BP1 ENST00000357436 human ensembl 70_37 +1 known silent c.879 p.I293 0.494 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_BAR_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors SH3BP1 HGNC SLC34A2 10568 genome.wustl.edu 37 4 25665907 25665907 + Missense_Mutation SNP G G A TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 4 25665907 25665907 G A SNP SLC34A2 ENST00000382051 human ensembl 70_37 +1 known missense c.334 p.V112M 1.000 pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt pfam_Na/Pi_transpt,superfamily_ABC_transptrTM_dom_typ1,tigrfam_Na/Pi_transpt - no_errors SLC34A2 HGNC SLC41A1 254428 genome.wustl.edu 37 1 205779628 205779628 + RNA SNP C C G TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 1 205779628 205779628 C G SNP SLC41A1 ENST00000484000 human ensembl 70_37 -1 known rna NULL NULL 0.361 - - - no_errors SLC41A1 HGNC SLITRK1 114798 genome.wustl.edu 37 13 84454243 84454243 + Missense_Mutation SNP A A G TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 13 84454243 84454243 A G SNP SLITRK1 ENST00000377084 human ensembl 70_37 -1 known missense c.1400 p.F467S 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC SMG6 23293 genome.wustl.edu 37 17 1964523 1964523 + RNA SNP C C T TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 17 1964523 1964523 C T SNP SMG6 ENST00000570756 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors SMG6 HGNC SNRPD3 6634 genome.wustl.edu 37 22 24964112 24964112 + Missense_Mutation SNP G G T TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 22 24964112 24964112 G T SNP SNRPD3 ENST00000215829 human ensembl 70_37 +1 known missense c.287 p.G96V 1.000 superfamily_LSM_dom pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors SNRPD3 HGNC STRADB 55437 genome.wustl.edu 37 2 202344886 202344886 + Silent SNP C C T TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 2 202344886 202344886 C T SNP STRADB ENST00000194530 human ensembl 70_37 +1 known silent c.1245 p.Y415 0.437 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 - no_errors STRADB HGNC TMC7 79905 genome.wustl.edu 37 16 19051725 19051725 + Missense_Mutation SNP G G A TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 16 19051725 19051725 G A SNP TMC7 ENST00000304381 human ensembl 70_37 +1 known missense c.1294 p.E432K 1.000 NULL pfam_TMC - no_errors TMC7 HGNC TMEM117 84216 genome.wustl.edu 37 12 44693454 44693454 + Missense_Mutation SNP A A G TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 12 44693454 44693454 A G SNP TMEM117 ENST00000266534 human ensembl 70_37 +1 known missense c.700 p.S234G 1.000 NULL NULL - no_errors TMEM117 HGNC TMEM184C 55751 genome.wustl.edu 37 4 148555364 148555364 + Missense_Mutation SNP G G T TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 4 148555364 148555364 G T SNP TMEM184C ENST00000296582 human ensembl 70_37 +1 known missense c.1096 p.D366Y 1.000 NULL pfam_Ost-alpha - no_errors TMEM184C HGNC TMEM52B 120939 genome.wustl.edu 37 12 10342532 10342532 + Silent SNP C C A TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 12 10342532 10342532 C A SNP TMEM52B ENST00000381923 human ensembl 70_37 +1 known silent c.345 p.I115 1.000 NULL NULL - no_errors TMEM52B HGNC TMEM63B 55362 genome.wustl.edu 37 6 44102397 44102397 + Missense_Mutation SNP G G T TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 6 44102397 44102397 G T SNP TMEM63B ENST00000259746 human ensembl 70_37 +1 known missense c.76 p.A26S 1.000 NULL pfam_DUF221 - no_errors TMEM63B HGNC USP1 7398 genome.wustl.edu 37 1 62907935 62907935 + Missense_Mutation SNP G G A TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 1 62907935 62907935 G A SNP USP1 ENST00000339950 human ensembl 70_37 +1 known missense c.361 p.E121K 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP1 HGNC VPS16 64601 genome.wustl.edu 37 20 2845875 2845875 + Silent SNP C C T TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 20 2845875 2845875 C T SNP VPS16 ENST00000380445 human ensembl 70_37 +1 known silent c.2086 p.L696 1.000 pfam_Vps16_C,pirsf_VPS16 pfam_Vps16_N,pfam_Vps16_C,pirsf_VPS16 - no_errors VPS16 HGNC WRNIP1 56897 genome.wustl.edu 37 6 2779557 2779557 + Silent SNP C C T TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 6 2779557 2779557 C T SNP WRNIP1 ENST00000380773 human ensembl 70_37 +1 known silent c.1317 p.D439 0.997 NULL pfam_MgsA_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_dyneun-rel_AAA,pfam_DUF815,pfam_IstB_ATP-bd,pfam_ATPase_AAA-2,smart_Znf_Rad18_put,smart_AAA+_ATPase - no_errors WRNIP1 HGNC ZAN 7455 genome.wustl.edu 37 7 100371474 100371474 + Missense_Mutation SNP G G A TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 7 100371474 100371474 G A SNP ZAN ENST00000546292 human ensembl 70_37 +1 known missense c.5765 p.R1922H 0.705 smart_VWF_type-D pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ZNF174 7727 genome.wustl.edu 37 16 3452170 3452170 + Missense_Mutation SNP G G C TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 16 3452170 3452170 G C SNP ZNF174 ENST00000268655 human ensembl 70_37 +1 known missense c.166 p.E56Q 0.996 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF174 HGNC ZNF492 57615 genome.wustl.edu 37 19 22847093 22847093 + Missense_Mutation SNP C C T TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 780c38c5-f1fa-4885-a0f9-ced48cf123c9 a37dd07d-ef81-4183-904e-1cdb09139d9b 19 22847093 22847093 C T SNP ZNF492 ENST00000456783 human ensembl 70_37 +1 known missense c.622 p.R208W 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF492 HGNC