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 ACACA 31 genome.wustl.edu 37 17 35687252 35687252 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 17 35687252 35687252 C T SNP ACACA ENST00000353139 human ensembl 70_37 -1 known missense c.199 p.E67K 0.809 NULL pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACA HGNC ADCY7 113 genome.wustl.edu 37 16 50339488 50339488 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 16 50339488 50339488 G A SNP ADCY7 ENST00000254235 human ensembl 70_37 +1 known missense c.1670 p.S557N 1.000 pfam_Adenylate_cyclase-like pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY7 HGNC AFF1 4299 genome.wustl.edu 37 4 87967934 87967934 + Missense_Mutation SNP C C G TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 4 87967934 87967934 C G SNP AFF1 ENST00000395146 human ensembl 70_37 +1 known missense c.247 p.H83D 0.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF1 HGNC AK8 158067 genome.wustl.edu 37 9 135601303 135601303 + Silent SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 9 135601303 135601303 G A SNP AK8 ENST00000298545 human ensembl 70_37 -1 known silent c.1212 p.L404 0.999 pfam_Adenylate_kin pfam_Adenylate_kin,superfamily_Adenylate_kinase_lid-dom,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin - no_errors AK8 HGNC ALMS1 7840 genome.wustl.edu 37 2 73679354 73679354 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 2 73679354 73679354 G C SNP ALMS1 ENST00000264448 human ensembl 70_37 +1 known missense c.5697 p.E1899D 0.002 NULL NULL - no_errors ALMS1 HGNC ANAPC2 29882 genome.wustl.edu 37 9 140080858 140080858 + RNA SNP C C G TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 9 140080858 140080858 C G SNP ANAPC2 ENST00000495611 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ANAPC2 HGNC ARHGAP44 9912 genome.wustl.edu 37 17 12844388 12844388 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 17 12844388 12844388 G A SNP ARHGAP44 ENST00000379672 human ensembl 70_37 +1 known missense c.598 p.D200N 1.000 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors ARHGAP44 HGNC ARMC9 80210 genome.wustl.edu 37 2 232196514 232196514 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 2 232196514 232196514 G A SNP ARMC9 ENST00000349938 human ensembl 70_37 +1 known missense c.1783 p.D595N 1.000 NULL superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors ARMC9 HGNC ARMCX4 100131755 genome.wustl.edu 37 X 100743007 100743007 + Silent SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 X 100743007 100743007 C T SNP ARMCX4 ENST00000433011 human ensembl 70_37 +1 known silent c.87 p.L29 0.947 NULL NULL - no_errors ARMCX4 HGNC ATP10B 23120 genome.wustl.edu 37 5 160042920 160042920 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 5 160042920 160042920 C T SNP ATP10B ENST00000327245 human ensembl 70_37 -1 known missense c.2578 p.E860K 0.991 pfam_Dehalogen-like_hydro,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 ATP10B HGNC ATP5F1 515 genome.wustl.edu 37 1 111999270 111999270 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 1 111999270 111999270 G A SNP ATP5F1 ENST00000369722 human ensembl 70_37 +1 known missense c.406 p.E136K 0.967 pfam_ATPase_F0-cplx_bsu_mt pfam_ATPase_F0-cplx_bsu_mt - no_errors ATP5F1 HGNC BACE2 25825 genome.wustl.edu 37 21 42609509 42609509 + Silent SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 21 42609509 42609509 C T SNP BACE2 ENST00000330333 human ensembl 70_37 +1 known silent c.471 p.F157 0.000 pfam_Peptidase_A1,superfamily_Peptidase_aspartic pfam_Peptidase_A1,superfamily_Peptidase_aspartic,prints_Pept_A1_BACE,prints_Pept_A1_BACE2,prints_Peptidase_A1,prints_Pept_A1_BACE1 - no_errors BACE2 HGNC BAI3 577 genome.wustl.edu 37 6 70048837 70048837 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 6 70048837 70048837 C T SNP BAI3 ENST00000370598 human ensembl 70_37 +1 known missense c.3218 p.T1073M 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC BBS7 55212 genome.wustl.edu 37 4 122754426 122754426 + Nonsense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 4 122754426 122754426 G A SNP BBS7 ENST00000264499 human ensembl 70_37 -1 known nonsense c.1636 p.Q546* 1.000 pirsf_Bardet-Biedl_syndrome_7_prot superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_7_prot - no_errors BBS7 HGNC BCAM 4059 genome.wustl.edu 37 19 45322970 45322970 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 19 45322970 45322970 G C SNP BCAM ENST00000270233 human ensembl 70_37 +1 known missense c.1750 p.E584Q 0.976 NULL pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors BCAM HGNC BCHE 590 genome.wustl.edu 37 3 165504083 165504083 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 3 165504083 165504083 G C SNP BCHE ENST00000264381 human ensembl 70_37 -1 known missense c.1534 p.Q512E 0.950 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors BCHE HGNC BTN3A1 11119 genome.wustl.edu 37 6 26409930 26409930 + Nonsense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 6 26409930 26409930 G A SNP BTN3A1 ENST00000289361 human ensembl 70_37 +1 known nonsense c.885 p.W295* 0.001 NULL pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like,prints_Butyrophylin - no_errors BTN3A1 HGNC C11orf80 79703 genome.wustl.edu 37 11 66610676 66610676 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 11 66610676 66610676 G A SNP C11orf80 ENST00000360962 human ensembl 70_37 +1 known missense c.2005 p.E669K 0.709 NULL NULL - no_errors C11orf80 HGNC C16orf13 84326 genome.wustl.edu 37 16 684612 684612 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 16 684612 684612 G C SNP C16orf13 ENST00000397666 human ensembl 70_37 -1 known missense c.532 p.L178V 0.997 NULL pfam_DUF938 - no_errors C16orf13 HGNC C1orf173 127254 genome.wustl.edu 37 1 75078444 75078444 + Silent SNP G G T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 1 75078444 75078444 G T SNP C1orf173 ENST00000326665 human ensembl 70_37 -1 known silent c.1050 p.L350 1.000 NULL NULL - no_errors C1orf173 HGNC C21orf59 56683 genome.wustl.edu 37 21 33982260 33982260 + Silent SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 21 33982260 33982260 C T SNP C21orf59 ENST00000290155 human ensembl 70_37 -1 known silent c.195 p.L65 1.000 NULL pfam_DUF2870 - no_errors C21orf59 HGNC C22orf46 79640 genome.wustl.edu 37 22 42089939 42089939 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 22 42089939 42089939 C T SNP C22orf46 ENST00000402966 human ensembl 70_37 +1 known missense c.689 p.S230L 0.547 NULL NULL - no_errors C22orf46 HGNC C5 727 genome.wustl.edu 37 9 123734236 123734236 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 9 123734236 123734236 C T SNP C5 ENST00000223642 human ensembl 70_37 -1 known missense c.4052 p.G1351E 0.966 NULL pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn - no_errors C5 HGNC C5 727 genome.wustl.edu 37 9 123737059 123737059 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 9 123737059 123737059 C T SNP C5 ENST00000223642 human ensembl 70_37 -1 known missense c.4015 p.E1339K 0.997 NULL pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn - no_errors C5 HGNC C5orf45 51149 genome.wustl.edu 37 5 179280429 179280429 + Nonsense_Mutation SNP C C A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 5 179280429 179280429 C A SNP C5orf45 ENST00000403396 human ensembl 70_37 -1 known nonsense c.121 p.E41* 0.997 NULL NULL - no_errors C5orf45 HGNC C6orf118 168090 genome.wustl.edu 37 6 165715766 165715766 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 6 165715766 165715766 G C SNP C6orf118 ENST00000230301 human ensembl 70_37 -1 known missense c.45 p.H15Q 0.396 NULL superfamily_Ribonuclease/ribotoxin - no_errors C6orf118 HGNC CAMTA1 23261 genome.wustl.edu 37 1 7723501 7723501 + Silent SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 1 7723501 7723501 G C SNP CAMTA1 ENST00000303635 human ensembl 70_37 +1 known silent c.894 p.G298 0.998 NULL pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC CCDC11 220136 genome.wustl.edu 37 18 47753901 47753901 + Silent SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 18 47753901 47753901 C T SNP CCDC11 ENST00000398545 human ensembl 70_37 -1 known silent c.1395 p.E465 0.636 NULL NULL - no_errors CCDC11 HGNC CCDC74A 90557 genome.wustl.edu 37 2 132288365 132288365 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 2 132288365 132288365 C T SNP CCDC74A ENST00000295171 human ensembl 70_37 +1 known missense c.509 p.S170L 0.002 NULL NULL - no_errors CCDC74A HGNC CCDC87 55231 genome.wustl.edu 37 11 66358279 66358279 + Silent SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 11 66358279 66358279 C T SNP CCDC87 ENST00000333861 human ensembl 70_37 -1 known silent c.2208 p.A736 0.000 pfam_MAP65_Ase1_PRC1 pfam_MAP65_Ase1_PRC1 - no_errors CCDC87 HGNC CCT2 10576 genome.wustl.edu 37 12 69991758 69991758 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 12 69991758 69991758 G C SNP CCT2 ENST00000299300 human ensembl 70_37 +1 known missense c.1242 p.E414D 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,tigrfam_Chap_CCT_beta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_beta - no_errors CCT2 HGNC CDC20 991 genome.wustl.edu 37 1 43825052 43825052 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 1 43825052 43825052 C T SNP CDC20 ENST00000310955 human ensembl 70_37 +1 known missense c.166 p.P56S 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CDC20 HGNC CDC7 8317 genome.wustl.edu 37 1 91989843 91989843 + Missense_Mutation SNP G G T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 1 91989843 91989843 G T SNP CDC7 ENST00000234626 human ensembl 70_37 +1 known missense c.1576 p.D526Y 0.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDC7 HGNC CHD1 1105 genome.wustl.edu 37 5 98192335 98192335 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 5 98192335 98192335 G A SNP CHD1 ENST00000284049 human ensembl 70_37 -1 known missense c.4882 p.H1628Y 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD1 HGNC CHRNA6 8973 genome.wustl.edu 37 8 42611816 42611816 + Missense_Mutation SNP A A G TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 8 42611816 42611816 A G SNP CHRNA6 ENST00000276410 human ensembl 70_37 -1 known missense c.526 p.F176L 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA6 HGNC CLVS1 157807 genome.wustl.edu 37 8 62212607 62212607 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 8 62212607 62212607 C T SNP CLVS1 ENST00000325897 human ensembl 70_37 +1 known missense c.221 p.A74V 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 CLVS1 HGNC COL19A1 1310 genome.wustl.edu 37 6 70831805 70831805 + Missense_Mutation SNP C C G TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 6 70831805 70831805 C G SNP COL19A1 ENST00000322773 human ensembl 70_37 +1 known missense c.1312 p.L438V 0.187 NULL pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL19A1 HGNC COL20A1 57642 genome.wustl.edu 37 20 61950537 61950537 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 20 61950537 61950537 G A SNP COL20A1 ENST00000326996 human ensembl 70_37 +1 known missense c.2791 p.G931R 0.935 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL20A1 HGNC COL8A1 1295 genome.wustl.edu 37 3 99514614 99514614 + Silent SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 3 99514614 99514614 C T SNP COL8A1 ENST00000261037 human ensembl 70_37 +1 known silent c.1869 p.T623 0.001 pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL8A1 HGNC CPSF1 29894 genome.wustl.edu 37 8 145624707 145624707 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 8 145624707 145624707 C T SNP CPSF1 ENST00000349769 human ensembl 70_37 -1 known missense c.1351 p.E451K 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC CTGF 1490 genome.wustl.edu 37 6 132270589 132270589 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 6 132270589 132270589 C T SNP CTGF ENST00000367976 human ensembl 70_37 -1 known missense c.865 p.D289N 1.000 pfam_Cys_knot,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C pfam_Cys_knot,pfam_IGFBP-like,pfam_VWF_C,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors CTGF HGNC CXADRP3 440224 genome.wustl.edu 37 18 14479194 14479194 + RNA SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 18 14479194 14479194 G C SNP CXADRP3 ENST00000581457 human ensembl 70_37 -1 known rna NULL NULL 0.886 - - - no_errors CXADRP3 HGNC CXorf36 79742 genome.wustl.edu 37 X 45051184 45051184 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 X 45051184 45051184 C T SNP CXorf36 ENST00000398000 human ensembl 70_37 -1 known missense c.310 p.D104N 1.000 NULL NULL - no_errors CXorf36 HGNC DCDC5 100506627 genome.wustl.edu 37 11 31329188 31329188 + Silent SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 11 31329188 31329188 C T SNP DCDC5 ENST00000452803 human ensembl 70_37 -1 known silent c.432 p.L144 1.000 NULL superfamily_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors DCDC5 HGNC DCHS2 54798 genome.wustl.edu 37 4 155242131 155242131 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 4 155242131 155242131 G C SNP DCHS2 ENST00000357232 human ensembl 70_37 -1 known missense c.3055 p.H1019D 0.999 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC DDX54 79039 genome.wustl.edu 37 12 113602037 113602037 + Silent SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 12 113602037 113602037 G A SNP DDX54 ENST00000314045 human ensembl 70_37 -1 known silent c.1773 p.R591 0.027 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DBP10CT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX54 HGNC DIO3OS 64150 genome.wustl.edu 37 14 102024333 102024333 + RNA SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 14 102024333 102024333 C T SNP DIO3OS ENST00000554735 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors DIO3OS HGNC DNAH9 1770 genome.wustl.edu 37 17 11778338 11778338 + Nonsense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 17 11778338 11778338 C T SNP DNAH9 ENST00000262442 human ensembl 70_37 +1 known nonsense c.10315 p.Q3439* 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH9 HGNC DNAJC2 27000 genome.wustl.edu 37 7 102962392 102962392 + Missense_Mutation SNP C C A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 7 102962392 102962392 C A SNP DNAJC2 ENST00000379263 human ensembl 70_37 -1 known missense c.1070 p.R357L 1.000 NULL pfam_SANT/Myb,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_Homeodomain-like,smart_DnaJ_N,smart_SANT/Myb,pfscan_Myb-like_dom,pfscan_DnaJ_N - no_errors DNAJC2 HGNC DTX3L 151636 genome.wustl.edu 37 3 122284856 122284856 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 3 122284856 122284856 C T SNP DTX3L ENST00000296161 human ensembl 70_37 +1 known missense c.338 p.S113F 0.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors DTX3L HGNC ECM2 1842 genome.wustl.edu 37 9 95263075 95263075 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 9 95263075 95263075 G C SNP ECM2 ENST00000344604 human ensembl 70_37 -1 known missense c.1865 p.S622C 0.256 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_VWF_C,smart_VWF_C,smart_Leu-rich_rpt_typical-subtyp,pfscan_VWF_C - no_errors ECM2 HGNC EFCAB9 285588 genome.wustl.edu 37 5 171621181 171621181 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 5 171621181 171621181 G C SNP EFCAB9 ENST00000398186 human ensembl 70_37 +1 known missense c.5 p.R2T 0.993 NULL pfscan_EF_HAND_2 - no_errors EFCAB9 HGNC EFNA1 1942 genome.wustl.edu 37 1 155100462 155100462 + Silent SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 1 155100462 155100462 C T SNP EFNA1 ENST00000368407 human ensembl 70_37 +1 known silent c.9 p.F3 0.993 NULL pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNA1 HGNC EGR3 1960 genome.wustl.edu 37 8 22548785 22548785 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 8 22548785 22548785 G A SNP EGR3 ENST00000317216 human ensembl 70_37 -1 known missense c.365 p.T122M 1.000 pfam_DUF3446 pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR3 HGNC ELFN1 392617 genome.wustl.edu 37 7 1784472 1784472 + Silent SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 7 1784472 1784472 C T SNP ELFN1 ENST00000424383 human ensembl 70_37 +1 known silent c.240 p.L80 0.937 NULL superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors ELFN1 HGNC EMC4 51234 genome.wustl.edu 37 15 34517291 34517291 + RNA SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 15 34517291 34517291 G C SNP EMC4 ENST00000557879 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors EMC4 HGNC ENO1 2023 genome.wustl.edu 37 1 8922948 8922948 + Silent SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 1 8922948 8922948 G A SNP ENO1 ENST00000234590 human ensembl 70_37 -1 known silent c.1233 p.L411 1.000 pfam_Enolase_C,pirsf_Enolase,tigrfam_Enolase pfam_Enolase_C,pfam_Enolase_N,pirsf_Enolase,prints_Enolase,tigrfam_Enolase - no_errors ENO1 HGNC ENSG00000211562 0 genome.wustl.edu 37 8 48802691 48802693 + RNA DEL ATA ATA - TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 ATA ATA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 8 48802691 48802693 ATA - DEL ENSG00000211562 ENST00000390136 human ensembl 70_37 +1 novel rna NULL NULL 0.002:0.001:0.001 - - - no_errors AC103686.1 Clone_based_ensembl_gene ENSG00000229180 0 genome.wustl.edu 37 7 65996756 65996756 + RNA SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 7 65996756 65996756 C T SNP ENSG00000229180 ENST00000449307 human ensembl 70_37 -1 known rna NULL NULL 0.544 - - - no_errors GS1-124K5.11 Clone_based_vega_gene ENSG00000229203 0 genome.wustl.edu 37 2 132587691 132587691 + RNA SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 2 132587691 132587691 G A SNP ENSG00000229203 ENST00000437330 human ensembl 70_37 -1 known rna NULL NULL 0.998 - - - no_errors AC103564.7 Clone_based_vega_gene ENSG00000252798 0 genome.wustl.edu 37 16 21598984 21598985 + RNA INS - - T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 16 21598984 21598985 - T INS ENSG00000252798 ENST00000516989 human ensembl 70_37 +1 novel rna NULL NULL 0.242:0.246 - - - no_errors SCARNA6 RFAM FAM157C 100996541 genome.wustl.edu 37 16 90185214 90185214 + RNA SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 16 90185214 90185214 G C SNP FAM157C ENST00000566043 human ensembl 70_37 +1 known rna NULL NULL 0.006 - - - no_errors FAM157C HGNC FAM179B 23116 genome.wustl.edu 37 14 45432171 45432171 + Nonsense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 14 45432171 45432171 C T SNP FAM179B ENST00000361577 human ensembl 70_37 +1 known nonsense c.547 p.Q183* 0.996 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FAM179B HGNC FAM194A 131831 genome.wustl.edu 37 3 150396312 150396312 + Nonsense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 3 150396312 150396312 G A SNP FAM194A ENST00000295910 human ensembl 70_37 -1 known nonsense c.1141 p.Q381* 1.000 NULL NULL - no_errors FAM194A HGNC FAM21C 253725 genome.wustl.edu 37 10 46280987 46280987 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 10 46280987 46280987 G C SNP FAM21C ENST00000374362 human ensembl 70_37 +1 known missense c.2719 p.D907H 0.993 NULL NULL - no_errors FAM21C HGNC FAM86HP 729375 genome.wustl.edu 37 3 129818005 129818005 + RNA SNP C C G TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 3 129818005 129818005 C G SNP FAM86HP ENST00000511564 human ensembl 70_37 -1 putative rna NULL NULL 0.011 - - - no_errors FAM86HP HGNC FBF1 85302 genome.wustl.edu 37 17 73919313 73919313 + Nonsense_Mutation SNP C C A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 17 73919313 73919313 C A SNP FBF1 ENST00000389570 human ensembl 70_37 -1 known nonsense c.1336 p.E446* 0.000 NULL superfamily_HRDC-like - no_errors FBF1 HGNC FGFRL1 53834 genome.wustl.edu 37 4 1018776 1018776 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 4 1018776 1018776 G A SNP FGFRL1 ENST00000264748 human ensembl 70_37 +1 known missense c.1156 p.G386S 0.997 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FGFRL1 HGNC FLCN 201163 genome.wustl.edu 37 17 17124884 17124884 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 17 17124884 17124884 C T SNP FLCN ENST00000285071 human ensembl 70_37 -1 known missense c.838 p.E280K 0.998 NULL pfam_Folliculin - no_errors FLCN HGNC FLNB 2317 genome.wustl.edu 37 3 58116576 58116576 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 3 58116576 58116576 C T SNP FLNB ENST00000295956 human ensembl 70_37 +1 known missense c.4331 p.T1444M 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC GALK2 2585 genome.wustl.edu 37 15 49528054 49528054 + Missense_Mutation SNP C C A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 15 49528054 49528054 C A SNP GALK2 ENST00000560031 human ensembl 70_37 +1 known missense c.273 p.F91L 1.000 superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,tigrfam_Galactokinase pfam_GalKase_gal-bd,pfam_GHMP_kinase_N_dom,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,prints_Mevalonate/galactokinase,prints_Galactokinase,tigrfam_Galactokinase - no_errors GALK2 HGNC GAS2L3 283431 genome.wustl.edu 37 12 101012237 101012237 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 12 101012237 101012237 G A SNP GAS2L3 ENST00000266754 human ensembl 70_37 +1 known missense c.520 p.E174K 1.000 superfamily_CH-domain pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L3 HGNC GPR143 4935 genome.wustl.edu 37 X 9727434 9727434 + Silent SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 X 9727434 9727434 G A SNP GPR143 ENST00000380929 human ensembl 70_37 -1 known silent c.453 p.F151 1.000 pfam_Ocular_alb1,pfam_GPCR_2_secretin-like,prints_Ocular_alb1 pfam_Ocular_alb1,pfam_GPCR_2_secretin-like,prints_Ocular_alb1 - no_errors GPR143 HGNC GPR179 440435 genome.wustl.edu 37 17 36499400 36499400 + Silent SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 17 36499400 36499400 G C SNP GPR179 ENST00000342292 human ensembl 70_37 -1 known silent c.273 p.L91 0.994 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C - no_errors GPR179 HGNC GPT2 84706 genome.wustl.edu 37 16 46918771 46918771 + Silent SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 16 46918771 46918771 C T SNP GPT2 ENST00000340124 human ensembl 70_37 +1 known silent c.144 p.L48 0.975 superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors GPT2 HGNC MROH2A 339766 genome.wustl.edu 37 2 234740827 234740827 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 2 234740827 234740827 G A SNP HEATR7B1 ENST00000389758 human ensembl 70_37 +1 novel missense c.4745 p.R1582Q 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR7B1 HGNC HELZ2 85441 genome.wustl.edu 37 20 62193337 62193337 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 20 62193337 62193337 C T SNP HELZ2 ENST00000467148 human ensembl 70_37 -1 known missense c.6530 p.G2177D 1.000 NULL pfam_RNase_II/R,smart_RNase_II/R - no_errors HELZ2 HGNC HNRNPA1L2 144983 genome.wustl.edu 37 13 53217087 53217087 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 13 53217087 53217087 G C SNP HNRNPA1L2 ENST00000342657 human ensembl 70_37 +1 known missense c.460 p.D154H 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_HnRNPA1,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPA1L2 HGNC HTR3E 285242 genome.wustl.edu 37 3 183821990 183821990 + Silent SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 3 183821990 183821990 C T SNP HTR3E ENST00000335304 human ensembl 70_37 +1 known silent c.345 p.I115 0.705 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel - no_errors HTR3E HGNC IER3 8870 genome.wustl.edu 37 6 30711813 30711813 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 6 30711813 30711813 G A SNP IER3 ENST00000259874 human ensembl 70_37 -1 known missense c.371 p.P124L 0.001 NULL NULL - no_errors IER3 HGNC IFNA8 3445 genome.wustl.edu 37 9 21409527 21409527 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 9 21409527 21409527 G A SNP IFNA8 ENST00000380205 human ensembl 70_37 +1 known missense c.352 p.D118N 0.000 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA8 HGNC IFT122 55764 genome.wustl.edu 37 3 129200485 129200485 + Missense_Mutation SNP A A T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 3 129200485 129200485 A T SNP IFT122 ENST00000296266 human ensembl 70_37 +1 known missense c.1754 p.E585V 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT122 HGNC IGHV3OR16-6 647187 genome.wustl.edu 37 16 32926862 32926862 + RNA SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 16 32926862 32926862 G A SNP IGHV3OR16-6 ENST00000568775 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors IGHV3OR16-6 HGNC INPP5B 3633 genome.wustl.edu 37 1 38339012 38339013 + RNA INS - - A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 1 38339012 38339013 - A INS INPP5B ENST00000474758 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors INPP5B HGNC ITGAE 3682 genome.wustl.edu 37 17 3655001 3655001 + Silent SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 17 3655001 3655001 G A SNP ITGAE ENST00000263087 human ensembl 70_37 -1 known silent c.1836 p.F612 0.002 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_VWF_A,smart_Int_alpha_beta-p,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAE HGNC ITIH5 80760 genome.wustl.edu 37 10 7621936 7621936 + Silent SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 10 7621936 7621936 G A SNP ITIH5 ENST00000256861 human ensembl 70_37 -1 known silent c.1200 p.L400 0.392 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH5 HGNC KAT6A 7994 genome.wustl.edu 37 8 41798407 41798407 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 8 41798407 41798407 G A SNP KAT6A ENST00000265713 human ensembl 70_37 -1 known missense c.2992 p.R998W 0.957 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC KHSRP 8570 genome.wustl.edu 37 19 6416894 6416894 + Splice_Site SNP C C G TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 19 6416894 6416894 C G SNP KHSRP ENST00000398148 human ensembl 70_37 -1 known splice_site c.1183-1 e13-1 1.000 - - - no_errors KHSRP HGNC KIAA0895L 653319 genome.wustl.edu 37 16 67214059 67214059 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 16 67214059 67214059 C T SNP KIAA0895L ENST00000290881 human ensembl 70_37 -1 known missense c.455 p.R152Q 1.000 NULL pfam_DUF1704 - no_errors KIAA0895L HGNC KIAA1239 57495 genome.wustl.edu 37 4 37435519 37435519 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 4 37435519 37435519 G A SNP KIAA1239 ENST00000309447 human ensembl 70_37 +1 known missense c.583 p.E195K 0.998 NULL superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors KIAA1239 HGNC KIAA1244 57221 genome.wustl.edu 37 6 138584598 138584598 + Missense_Mutation SNP C C G TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 6 138584598 138584598 C G SNP KIAA1244 ENST00000251691 human ensembl 70_37 +1 known missense c.1978 p.L660V 0.307 superfamily_ARM-type_fold,smart_Sec7 pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold,superfamily_Sec7,smart_Sec7 - no_errors KIAA1244 HGNC KIF21A 55605 genome.wustl.edu 37 12 39763563 39763563 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 12 39763563 39763563 G A SNP KIF21A ENST00000395670 human ensembl 70_37 -1 known missense c.418 p.P140S 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21A HGNC KLC2 64837 genome.wustl.edu 37 11 66030328 66030328 + Silent SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 11 66030328 66030328 C T SNP KLC2 ENST00000316924 human ensembl 70_37 +1 known silent c.573 p.G191 1.000 pfam_Rabaptin_Rab5-bd_dom,prints_Kinesin_light pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light - no_errors KLC2 HGNC LACRT 90070 genome.wustl.edu 37 12 55027018 55027018 + Splice_Site SNP C C A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 12 55027018 55027018 C A SNP LACRT ENST00000257867 human ensembl 70_37 -1 known splice_site c.59-1 e2-1 0.674 - - - no_errors LACRT HGNC LAT 27040 genome.wustl.edu 37 16 28997209 28997209 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 16 28997209 28997209 C T SNP LAT ENST00000395461 human ensembl 70_37 +1 known missense c.271 p.H91Y 0.163 NULL prints_Linker_for_activat_Tcells_prot - no_errors LAT HGNC LATS2 26524 genome.wustl.edu 37 13 21549039 21549039 + Silent SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 13 21549039 21549039 C T SNP LATS2 ENST00000382592 human ensembl 70_37 -1 known silent c.3237 p.Q1079 0.001 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom - no_errors LATS2 HGNC LOC101060424 101060424 genome.wustl.edu 37 16 22563720 22563720 + RNA SNP C C G TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 16 22563720 22563720 C G SNP LOC101060424 ENST00000550753 human ensembl 70_37 +1 known rna NULL NULL 0.999 - - - no_errors RP11-368J21.3 Clone_based_vega_gene LRRC37A3 374819 genome.wustl.edu 37 17 62856739 62856739 + Missense_Mutation SNP C C G TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 17 62856739 62856739 C G SNP LRRC37A3 ENST00000319651 human ensembl 70_37 -1 known missense c.3525 p.Q1175H 0.015 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A3 HGNC LRRC56 115399 genome.wustl.edu 37 11 544754 544754 + Silent SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 11 544754 544754 G A SNP LRRC56 ENST00000270115 human ensembl 70_37 +1 known silent c.300 p.L100 0.997 NULL NULL - no_errors LRRC56 HGNC MAP3K15 389840 genome.wustl.edu 37 X 19392605 19392605 + Silent SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 X 19392605 19392605 G A SNP MAP3K15 ENST00000338883 human ensembl 70_37 -1 known silent c.2763 p.F921 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K15 HGNC MAP3K9 4293 genome.wustl.edu 37 14 71197275 71197275 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 14 71197275 71197275 C T SNP MAP3K9 ENST00000555993 human ensembl 70_37 -1 known missense c.3179 p.R1060Q 1.000 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_Regulat_G_prot_signal_superfam,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom - no_errors MAP3K9 HGNC MCF2L 23263 genome.wustl.edu 37 13 113700995 113700995 + RNA SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 13 113700995 113700995 G A SNP MCF2L ENST00000480321 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MCF2L HGNC MED23 9439 genome.wustl.edu 37 6 131931194 131931194 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 6 131931194 131931194 G A SNP MED23 ENST00000368058 human ensembl 70_37 -1 known missense c.1087 p.H363Y 1.000 pfam_Mediator_Med23 pfam_Mediator_Med23 - no_errors MED23 HGNC MIR505 574508 genome.wustl.edu 37 X 139006318 139006318 + RNA SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 X 139006318 139006318 G A SNP MIR505 ENST00000384901 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR505 HGNC KMT2C 58508 genome.wustl.edu 37 7 151876977 151876977 + Nonsense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 7 151876977 151876977 G A SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known nonsense c.7384 p.Q2462* 0.804 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC MLNR 2862 genome.wustl.edu 37 13 49794659 49794659 + Silent SNP G G T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 13 49794659 49794659 G T SNP MLNR ENST00000218721 human ensembl 70_37 +1 known silent c.186 p.L62 0.963 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_GPCR_Rhodpsn,prints_GHS1_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors MLNR HGNC MRPS31P5 100887750 genome.wustl.edu 37 13 52832670 52832670 + RNA SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 13 52832670 52832670 G C SNP MRPS31P5 ENST00000422308 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-64P12.8 Clone_based_vega_gene MTA1 9112 genome.wustl.edu 37 14 105916512 105916512 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 14 105916512 105916512 C T SNP MTA1 ENST00000331320 human ensembl 70_37 +1 known missense c.359 p.T120M 1.000 pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors MTA1 HGNC MUC16 94025 genome.wustl.edu 37 19 9064866 9064866 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 19 9064866 9064866 G C SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.22580 p.S7527C 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC MYH7 4625 genome.wustl.edu 37 14 23893302 23893302 + Silent SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 14 23893302 23893302 C T SNP MYH7 ENST00000355349 human ensembl 70_37 -1 known silent c.2736 p.K912 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC MYO1B 4430 genome.wustl.edu 37 2 192255199 192255199 + Missense_Mutation SNP C C A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 2 192255199 192255199 C A SNP MYO1B ENST00000304164 human ensembl 70_37 +1 known missense c.1963 p.H655N 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1B HGNC NAP1L3 4675 genome.wustl.edu 37 X 92926242 92926242 + RNA SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 X 92926242 92926242 C T SNP NAP1L3 ENST00000475430 human ensembl 70_37 -1 known rna NULL NULL 0.630 - - - no_errors NAP1L3 HGNC NBEA 26960 genome.wustl.edu 37 13 35747728 35747728 + Silent SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 13 35747728 35747728 G A SNP NBEA ENST00000310336 human ensembl 70_37 +1 known silent c.4551 p.S1517 0.054 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC NDUFB2-AS1 100134713 genome.wustl.edu 37 7 140395555 140395555 + RNA DEL T T - TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 7 140395555 140395555 T - DEL NDUFB2-AS1 ENST00000465466 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors NDUFB2-AS1 HGNC NID1 4811 genome.wustl.edu 37 1 236205327 236205327 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 1 236205327 236205327 C T SNP NID1 ENST00000264187 human ensembl 70_37 -1 known missense c.1018 p.E340K 0.140 NULL pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID1 HGNC NPEPPS 9520 genome.wustl.edu 37 17 45608761 45608761 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 17 45608761 45608761 C T SNP NPEPPS ENST00000322157 human ensembl 70_37 +1 known missense c.95 p.S32F 0.998 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors NPEPPS HGNC NR1I2 8856 genome.wustl.edu 37 3 119531560 119531560 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 3 119531560 119531560 G A SNP NR1I2 ENST00000337940 human ensembl 70_37 +1 known missense c.664 p.E222K 0.008 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR1I2 HGNC NRXN3 9369 genome.wustl.edu 37 14 79434541 79434541 + Silent SNP C C A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 14 79434541 79434541 C A SNP NRXN3 ENST00000554738 human ensembl 70_37 +1 known silent c.2961 p.A987 0.997 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC NSRP1 84081 genome.wustl.edu 37 17 28512158 28512158 + Silent SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 17 28512158 28512158 G A SNP NSRP1 ENST00000247026 human ensembl 70_37 +1 known silent c.1143 p.E381 0.300 NULL pfam_DUF2040 - no_errors NSRP1 HGNC OBSCN 84033 genome.wustl.edu 37 1 228496904 228496904 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 1 228496904 228496904 C T SNP OBSCN ENST00000422127 human ensembl 70_37 +1 known missense c.12844 p.R4282C 0.065 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC OR2T27 403239 genome.wustl.edu 37 1 248813536 248813536 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 1 248813536 248813536 G C SNP OR2T27 ENST00000344889 human ensembl 70_37 -1 known missense c.650 p.S217C 0.402 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T27 HGNC OR51V1 283111 genome.wustl.edu 37 11 5220979 5220979 + Silent SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 11 5220979 5220979 G A SNP OR51V1 ENST00000321255 human ensembl 70_37 -1 known silent c.952 p.L318 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51V1 HGNC OTOP3 347741 genome.wustl.edu 37 17 72945491 72945491 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 17 72945491 72945491 G C SNP OTOP3 ENST00000328801 human ensembl 70_37 +1 known missense c.1771 p.E591Q 1.000 NULL pfam_Otopetrin - no_errors OTOP3 HGNC PCDH11X 27328 genome.wustl.edu 37 X 91642930 91642930 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 X 91642930 91642930 C T SNP PCDH11X ENST00000373094 human ensembl 70_37 +1 known missense c.3341 p.S1114F 0.998 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC PCDHGB2 56103 genome.wustl.edu 37 5 140739720 140739720 + Silent SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 5 140739720 140739720 G A SNP PCDHGB2 ENST00000522605 human ensembl 70_37 +1 known silent c.18 p.G6 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB2 HGNC PDE6B 5158 genome.wustl.edu 37 4 661666 661666 + Nonsense_Mutation SNP G G T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 4 661666 661666 G T SNP PDE6B ENST00000496514 human ensembl 70_37 +1 known nonsense c.2374 p.E792* 1.000 pfam_PDEase_catalytic_dom pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6B HGNC PDZD7 79955 genome.wustl.edu 37 10 102771481 102771481 + RNA SNP C C G TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 10 102771481 102771481 C G SNP PDZD7 ENST00000474125 human ensembl 70_37 -1 known rna NULL NULL 0.023 - - - no_errors PDZD7 HGNC PHPT1 29085 genome.wustl.edu 37 9 139743790 139743790 + RNA SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 9 139743790 139743790 G A SNP PHPT1 ENST00000492540 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PHPT1 HGNC PHPT1 29085 genome.wustl.edu 37 9 139743846 139743846 + RNA SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 9 139743846 139743846 G A SNP PHPT1 ENST00000492540 human ensembl 70_37 +1 known rna NULL NULL 0.017 - - - no_errors PHPT1 HGNC PHTF1 10745 genome.wustl.edu 37 1 114300327 114300327 + Missense_Mutation SNP C C G TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 1 114300327 114300327 C G SNP PHTF1 ENST00000369604 human ensembl 70_37 -1 known missense c.96 p.Q32H 1.000 pfam_TF_homeodomain_male pfam_TF_homeodomain_male - no_errors PHTF1 HGNC PKHD1 5314 genome.wustl.edu 37 6 51613066 51613066 + Silent SNP C C A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 6 51613066 51613066 C A SNP PKHD1 ENST00000371117 human ensembl 70_37 -1 known silent c.9348 p.L3116 0.000 superfamily_Pectin_lyase_fold/virulence pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1 - no_errors PKHD1 HGNC PKIA 5569 genome.wustl.edu 37 8 79514021 79514021 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 8 79514021 79514021 G A SNP PKIA ENST00000352966 human ensembl 70_37 +1 known missense c.196 p.E66K 1.000 pfam_cAMP_dep_PKI,pirsf_cAMP_dep_PKI pfam_cAMP_dep_PKI,pirsf_cAMP_dep_PKI - no_errors PKIA HGNC PLCB1 23236 genome.wustl.edu 37 20 8637834 8637834 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 20 8637834 8637834 G A SNP PLCB1 ENST00000338037 human ensembl 70_37 +1 known missense c.598 p.D200N 1.000 pirsf_PLC-beta pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB1 HGNC PNCK 139728 genome.wustl.edu 37 X 152938100 152938100 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 X 152938100 152938100 C T SNP PNCK ENST00000447676 human ensembl 70_37 -1 known missense c.370 p.V124M 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 PNCK HGNC POLR1A 25885 genome.wustl.edu 37 2 86259502 86259502 + Missense_Mutation SNP C C G TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 2 86259502 86259502 C G SNP POLR1A ENST00000263857 human ensembl 70_37 -1 known missense c.4165 p.E1389Q 0.996 pfam_RNA_pol_Rpb1_5 pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N - no_errors POLR1A HGNC POLR1A 25885 genome.wustl.edu 37 2 86260836 86260836 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 2 86260836 86260836 C T SNP POLR1A ENST00000263857 human ensembl 70_37 -1 known missense c.4109 p.R1370Q 0.299 pfam_RNA_pol_Rpb1_5 pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N - no_errors POLR1A HGNC POM121C 100101267 genome.wustl.edu 37 7 75050940 75050940 + Silent SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 7 75050940 75050940 G A SNP POM121C ENST00000257665 human ensembl 70_37 -1 known silent c.3321 p.F1107 0.188 NULL NULL - no_errors POM121C HGNC POU4F3 5459 genome.wustl.edu 37 5 145718752 145718752 + Missense_Mutation SNP C C G TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 5 145718752 145718752 C G SNP POU4F3 ENST00000230732 human ensembl 70_37 +1 known missense c.77 p.S26C 1.000 NULL pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU - no_errors POU4F3 HGNC PPFIA4 8497 genome.wustl.edu 37 1 203008214 203008214 + Silent SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 1 203008214 203008214 C T SNP PPFIA4 ENST00000367240 human ensembl 70_37 +1 novel silent c.78 p.F26 0.974 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_Prefoldin,smart_SAM,pfscan_SAM - no_errors PPFIA4 HGNC PPP2R2C 5522 genome.wustl.edu 37 4 6374374 6374374 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 4 6374374 6374374 G C SNP PPP2R2C ENST00000335585 human ensembl 70_37 -1 known missense c.501 p.I167M 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2C HGNC PRKCA 5578 genome.wustl.edu 37 17 64299116 64299116 + Silent SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 17 64299116 64299116 C T SNP PRKCA ENST00000413366 human ensembl 70_37 +1 known silent c.147 p.F49 1.000 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_Ca-dep,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCA HGNC PRODH 5625 genome.wustl.edu 37 22 18910643 18910643 + Silent SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 22 18910643 18910643 C T SNP PRODH ENST00000357068 human ensembl 70_37 -1 known silent c.717 p.G239 0.997 pfam_Proline_DH pfam_Proline_DH - no_errors PRODH HGNC PRODH 5625 genome.wustl.edu 37 22 18910678 18910678 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 22 18910678 18910678 C T SNP PRODH ENST00000357068 human ensembl 70_37 -1 known missense c.682 p.D228N 0.828 pfam_Proline_DH pfam_Proline_DH - no_errors PRODH HGNC PROX2 283571 genome.wustl.edu 37 14 75329296 75329296 + Silent SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 14 75329296 75329296 C T SNP PROX2 ENST00000445876 human ensembl 70_37 -1 known silent c.1242 p.S414 0.000 NULL pfam_Prox1,superfamily_Homeodomain-like - no_errors PROX2 HGNC PUM1 9698 genome.wustl.edu 37 1 31438980 31438980 + Silent SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 1 31438980 31438980 G A SNP PUM1 ENST00000426105 human ensembl 70_37 -1 known silent c.1935 p.F645 1.000 NULL pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors PUM1 HGNC PUM1 9698 genome.wustl.edu 37 1 31439030 31439030 + Nonsense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 1 31439030 31439030 G A SNP PUM1 ENST00000426105 human ensembl 70_37 -1 known nonsense c.1885 p.Q629* 1.000 NULL pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors PUM1 HGNC RAB43 339122 genome.wustl.edu 37 3 128810189 128810189 + Missense_Mutation SNP C C A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 3 128810189 128810189 C A SNP RAB43 ENST00000315150 human ensembl 70_37 -1 known missense c.389 p.G130V 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB43 HGNC RAD23B 5887 genome.wustl.edu 37 9 110086276 110086276 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 9 110086276 110086276 G A SNP RAD23B ENST00000358015 human ensembl 70_37 +1 known missense c.923 p.R308Q 1.000 pfam_XPC-bd,superfamily_XPC-bd,smart_STI1_HS-bd,prints_Rad23,tigrfam_Rad23 pfam_XPC-bd,pfam_Ubiquitin,pfam_UBA/transl_elong_EF1B_N,pfam_SUMO,superfamily_XPC-bd,superfamily_UBA-like,smart_Ubiquitin,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup,prints_Rad23,tigrfam_Rad23 - no_errors RAD23B HGNC RAD54L2 23132 genome.wustl.edu 37 3 51669640 51669640 + Missense_Mutation SNP G G T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 3 51669640 51669640 G T SNP RAD54L2 ENST00000409535 human ensembl 70_37 +1 known missense c.1174 p.D392Y 1.000 pfam_SNF2_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54L2 HGNC RASAL2 9462 genome.wustl.edu 37 1 178408665 178408665 + Silent SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 1 178408665 178408665 G A SNP RASAL2 ENST00000367649 human ensembl 70_37 +1 known silent c.783 p.V261 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology 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 RECQL 5965 genome.wustl.edu 37 12 21636484 21636484 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 12 21636484 21636484 C T SNP RECQL ENST00000421138 human ensembl 70_37 -1 known missense c.526 p.E176K 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_RQC_domain,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL HGNC RHD 6007 genome.wustl.edu 37 1 25633194 25633194 + Silent SNP T T A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 1 25633194 25633194 T A SNP RHD ENST00000328664 human ensembl 70_37 +1 known silent c.1047 p.L349 0.000 pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD - no_errors RHD HGNC RIF1 55183 genome.wustl.edu 37 2 152320916 152320916 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 2 152320916 152320916 G C SNP RIF1 ENST00000243326 human ensembl 70_37 +1 known missense c.4882 p.V1628L 0.000 NULL pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC RING1 6015 genome.wustl.edu 37 6 33180148 33180148 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 6 33180148 33180148 G A SNP RING1 ENST00000374656 human ensembl 70_37 +1 known missense c.1193 p.C398Y 0.965 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RING1 HGNC RNGTT 8732 genome.wustl.edu 37 6 89322520 89322520 + Missense_Mutation SNP C C G TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 6 89322520 89322520 C G SNP RNGTT ENST00000369485 human ensembl 70_37 -1 known missense c.1712 p.G571A 0.997 superfamily_NA-bd_OB-fold-like,pirsf_mRNA_cap_enz_bifunc pfam_mRNA_cap_enzyme,pfam_mRNA_cap_enzyme_C,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_NA-bd_OB-fold-like,pirsf_mRNA_cap_enz_bifunc,pfscan_Tyr/Dual-specificity_Pase - no_errors RNGTT HGNC RNPEPL1 57140 genome.wustl.edu 37 2 241514236 241514236 + RNA SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 2 241514236 241514236 G A SNP RNPEPL1 ENST00000464550 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors RNPEPL1 HGNC RPL36 25873 genome.wustl.edu 37 19 5691504 5691504 + Nonsense_Mutation SNP G G T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 19 5691504 5691504 G T SNP RPL36 ENST00000579446 human ensembl 70_37 +1 putative nonsense c.268 p.E90* 0.000 NULL pfam_Ribosomal_L36e - no_errors RPL36 HGNC RPL36 25873 genome.wustl.edu 37 19 5691566 5691566 + Silent SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 19 5691566 5691566 G A SNP RPL36 ENST00000347512 human ensembl 70_37 +1 known silent c.252 p.K84 1.000 pfam_Ribosomal_L36e pfam_Ribosomal_L36e - no_errors RPL36 HGNC RPS24 6229 genome.wustl.edu 37 10 79814352 79814352 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 10 79814352 79814352 G C SNP RPS24 ENST00000440692 human ensembl 70_37 +1 known missense c.454 p.D152H 0.001 NULL pfam_Ribosomal_S24e,superfamily_Ribosomal_L23/L15e_core_dom - no_errors RPS24 HGNC SAMD9 54809 genome.wustl.edu 37 7 92735050 92735050 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 7 92735050 92735050 C T SNP SAMD9 ENST00000379958 human ensembl 70_37 -1 known missense c.361 p.D121N 0.006 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD9 HGNC SCAMP2 10066 genome.wustl.edu 37 15 75137833 75137833 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 15 75137833 75137833 G A SNP SCAMP2 ENST00000268099 human ensembl 70_37 -1 known missense c.836 p.S279L 1.000 pfam_SCAMP pfam_SCAMP - no_errors SCAMP2 HGNC SDK1 221935 genome.wustl.edu 37 7 4011173 4011173 + Frame_Shift_Del DEL C C - TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 7 4011173 4011173 C - DEL SDK1 ENST00000404826 human ensembl 70_37 +1 known frame_shift_del c.1790 p.T598fs 0.961 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Fibronectin_type3,pfam_Ig_I-set,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 SDK1 HGNC SEC16A 9919 genome.wustl.edu 37 9 139371760 139371760 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 9 139371760 139371760 G C SNP SEC16A ENST00000313050 human ensembl 70_37 -1 known missense c.308 p.S103C 0.011 NULL NULL - no_errors SEC16A HGNC SEC16A 9919 genome.wustl.edu 37 9 139371806 139371806 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 9 139371806 139371806 G C SNP SEC16A ENST00000313050 human ensembl 70_37 -1 known missense c.262 p.Q88E 1.000 NULL NULL - no_errors SEC16A HGNC SETBP1 26040 genome.wustl.edu 37 18 42533025 42533025 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 18 42533025 42533025 G C SNP SETBP1 ENST00000282030 human ensembl 70_37 +1 known missense c.3720 p.Q1240H 1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC SETDB1 9869 genome.wustl.edu 37 1 150902570 150902570 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 1 150902570 150902570 G A SNP SETDB1 ENST00000271640 human ensembl 70_37 +1 known missense c.388 p.D130N 1.000 NULL pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom - no_errors SETDB1 HGNC SETDB1 9869 genome.wustl.edu 37 1 150922972 150922972 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 1 150922972 150922972 C T SNP SETDB1 ENST00000271640 human ensembl 70_37 +1 known missense c.1619 p.S540L 0.358 NULL pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom - no_errors SETDB1 HGNC SF3B2 10992 genome.wustl.edu 37 11 65827432 65827432 + Silent SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 11 65827432 65827432 C T SNP SF3B2 ENST00000322535 human ensembl 70_37 +1 known silent c.1581 p.F527 1.000 pfam_DUF382 pfam_DUF382,pfam_PSP,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_PSP,pfscan_SAP_DNA-bd - no_errors SF3B2 HGNC SLC27A1 376497 genome.wustl.edu 37 19 17598092 17598092 + Silent SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 19 17598092 17598092 G A SNP SLC27A1 ENST00000252595 human ensembl 70_37 +1 known silent c.672 p.L224 0.962 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A1 HGNC SLC4A8 9498 genome.wustl.edu 37 12 51888824 51888824 + Silent SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 12 51888824 51888824 C T SNP SLC4A8 ENST00000453097 human ensembl 70_37 +1 known silent c.2865 p.F955 1.000 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A8 HGNC SLMAP 7871 genome.wustl.edu 37 3 57857404 57857404 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 3 57857404 57857404 C T SNP SLMAP ENST00000428312 human ensembl 70_37 +1 known missense c.1228 p.H410Y 1.000 NULL pfam_FHA_dom,pfam_PFD_beta-like,superfamily_SMAD_FHA_domain,superfamily_Prefoldin,smart_FHA_dom,pfscan_FHA_dom - no_errors SLMAP HGNC SMARCC2 6601 genome.wustl.edu 37 12 56558384 56558384 + Missense_Mutation SNP G G T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 12 56558384 56558384 G T SNP SMARCC2 ENST00000267064 human ensembl 70_37 -1 known missense c.3271 p.P1091T 1.000 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC SMC4 10051 genome.wustl.edu 37 3 160131375 160131375 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 3 160131375 160131375 G C SNP SMC4 ENST00000344722 human ensembl 70_37 +1 known missense c.1095 p.K365N 1.000 pfam_RecF/RecN/SMC pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge - no_errors SMC4 HGNC SMG1 23049 genome.wustl.edu 37 16 18863488 18863488 + Frame_Shift_Del DEL A A - TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 16 18863488 18863488 A - DEL SMG1 ENST00000389467 human ensembl 70_37 -1 known frame_shift_del c.4953 p.E1652fs 0.992 superfamily_ARM-type_fold,pfscan_PIK_FAT pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC SNHG14 0 genome.wustl.edu 37 15 25319091 25319091 + RNA SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 15 25319091 25319091 C T SNP SNHG14 ENST00000549804 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors SNHG14 HGNC SNX13 23161 genome.wustl.edu 37 7 17874425 17874425 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 7 17874425 17874425 C T SNP SNX13 ENST00000428135 human ensembl 70_37 -1 novel missense c.1423 p.E475K 1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,superfamily_Cyt_c_oxidase_su5A/6,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal - no_errors SNX13 HGNC SOX5 6660 genome.wustl.edu 37 12 23689418 23689418 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 12 23689418 23689418 G A SNP SOX5 ENST00000451604 human ensembl 70_37 -1 known missense c.1957 p.R653W 0.994 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX5 HGNC SPTAN1 6709 genome.wustl.edu 37 9 131386727 131386727 + Nonsense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 9 131386727 131386727 C T SNP SPTAN1 ENST00000358161 human ensembl 70_37 +1 known nonsense c.5953 p.Q1985* 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC SRGAP1 57522 genome.wustl.edu 37 12 64436615 64436615 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 12 64436615 64436615 G C SNP SRGAP1 ENST00000355086 human ensembl 70_37 +1 known missense c.535 p.E179Q 1.000 NULL pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP1 HGNC STAU2 27067 genome.wustl.edu 37 8 74333613 74333613 + Silent SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 8 74333613 74333613 G C SNP STAU2 ENST00000524300 human ensembl 70_37 -1 known silent c.1707 p.A569 1.000 NULL pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd - no_errors STAU2 HGNC SUOX 6821 genome.wustl.edu 37 12 56398554 56398554 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 12 56398554 56398554 G C SNP SUOX ENST00000266971 human ensembl 70_37 +1 known missense c.1381 p.D461H 1.000 pfam_MoCF_OxRdtse_dimer,superfamily_Ig_E-set,prints_Mopterin_OxRdtase_euk pfam_OxRdtase_Mopterin-bd_dom,pfam_MoCF_OxRdtse_dimer,pfam_Cyt_B5,superfamily_OxRdtase_Mopterin-bd_dom,superfamily_Ig_E-set,superfamily_Cyt_B5,pfscan_Cyt_B5,prints_Mopterin_OxRdtase_euk,prints_Cyt_B5 - no_errors SUOX HGNC SVEP1 79987 genome.wustl.edu 37 9 113170365 113170365 + Missense_Mutation SNP C C G TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 9 113170365 113170365 C G SNP SVEP1 ENST00000401783 human ensembl 70_37 -1 known missense c.7515 p.L2505F 0.060 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC SYMPK 8189 genome.wustl.edu 37 19 46352129 46352129 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 19 46352129 46352129 C T SNP SYMPK ENST00000245934 human ensembl 70_37 -1 known missense c.305 p.R102Q 1.000 superfamily_ARM-type_fold pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold - no_errors SYMPK HGNC TAF1L 138474 genome.wustl.edu 37 9 32633289 32633289 + Silent SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 9 32633289 32633289 C T SNP TAF1L ENST00000242310 human ensembl 70_37 -1 known silent c.2289 p.E763 1.000 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC TARBP1 6894 genome.wustl.edu 37 1 234528170 234528170 + Silent SNP G G T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 1 234528170 234528170 G T SNP TARBP1 ENST00000040877 human ensembl 70_37 -1 known silent c.4689 p.L1563 0.199 pfam_SpoU_MeTrfase pfam_SpoU_MeTrfase,superfamily_ARM-type_fold - no_errors TARBP1 HGNC TCEB3CL2 100506888 genome.wustl.edu 37 18 44543759 44543759 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 18 44543759 44543759 G A SNP TCEB3CL2 ENST00000591973 human ensembl 70_37 -1 known missense c.613 p.P205S 0.006 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3CL2 HGNC TCP10L 140290 genome.wustl.edu 37 21 33954591 33954591 + Silent SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 21 33954591 33954591 C T SNP TCP10L ENST00000300258 human ensembl 70_37 -1 known silent c.279 p.L93 0.004 NULL NULL - no_errors TCP10L HGNC TEX15 56154 genome.wustl.edu 37 8 30694585 30694585 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 8 30694585 30694585 G C SNP TEX15 ENST00000256246 human ensembl 70_37 -1 known missense c.8066 p.S2689C 0.000 NULL NULL - no_errors TEX15 HGNC TEX15 56154 genome.wustl.edu 37 8 30695141 30695141 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 8 30695141 30695141 G C SNP TEX15 ENST00000256246 human ensembl 70_37 -1 known missense c.7510 p.L2504V 0.001 NULL NULL - no_errors TEX15 HGNC TGIF1 7050 genome.wustl.edu 37 18 3456358 3456358 + Missense_Mutation SNP T T G TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 18 3456358 3456358 T G SNP TGIF1 ENST00000330513 human ensembl 70_37 +1 known missense c.410 p.V137G 0.492 NULL pfam_Homeobox_KN_domain,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors TGIF1 HGNC THAP3 90326 genome.wustl.edu 37 1 6693112 6693112 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 1 6693112 6693112 G A SNP THAP3 ENST00000054650 human ensembl 70_37 +1 known missense c.695 p.R232K 0.004 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP3 HGNC THEG 51298 genome.wustl.edu 37 19 362260 362260 + Missense_Mutation SNP C C G TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 19 362260 362260 C G SNP THEG ENST00000342640 human ensembl 70_37 -1 known missense c.1080 p.M360I 0.892 NULL smart_THEG - no_errors THEG HGNC TMEM63A 9725 genome.wustl.edu 37 1 226054373 226054373 + Silent SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 1 226054373 226054373 G A SNP TMEM63A ENST00000366835 human ensembl 70_37 -1 known silent c.576 p.L192 0.589 NULL pfam_DUF221 - no_errors TMEM63A HGNC TMPRSS3 64699 genome.wustl.edu 37 21 43815561 43815561 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 21 43815561 43815561 G A SNP TMPRSS3 ENST00000380399 human ensembl 70_37 -1 known missense c.218 p.A73V 0.851 NULL pfam_Peptidase_S1_S6,pfam_Srcr_rcpt,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_LDrepeatLR_classA_rpt,pfscan_Srcr_rcpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TMPRSS3 HGNC TNPO2 30000 genome.wustl.edu 37 19 12816128 12816128 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 19 12816128 12816128 C T SNP TNPO2 ENST00000425528 human ensembl 70_37 -1 known missense c.1948 p.E650K 1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors TNPO2 HGNC TRA2B 6434 genome.wustl.edu 37 3 185641776 185641776 + RNA DEL G G - TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 3 185641776 185641776 G - DEL TRA2B ENST00000465245 human ensembl 70_37 -1 known rna NULL NULL 0.014 - - - no_errors TRA2B HGNC TRMU 55687 genome.wustl.edu 37 22 46739244 46739244 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 22 46739244 46739244 C T SNP TRMU ENST00000290846 human ensembl 70_37 +1 known missense c.334 p.H112Y 0.005 pfam_tRNA-specific_2-thiouridylase,tigrfam_tRNA-specific_2-thiouridylase pfam_tRNA-specific_2-thiouridylase,pfam_ThiI_C_dom,pfam_NAD/GMP_synthase,tigrfam_tRNA-specific_2-thiouridylase - no_errors TRMU HGNC TSGA10 80705 genome.wustl.edu 37 2 99757576 99757576 + RNA SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 2 99757576 99757576 C T SNP TSGA10 ENST00000489926 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TSGA10 HGNC TTLL10 254173 genome.wustl.edu 37 1 1132485 1132485 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 1 1132485 1132485 G C SNP TTLL10 ENST00000379289 human ensembl 70_37 +1 known missense c.1531 p.E511Q 1.000 pfam_Tub_tyr_ligase pfam_Tub_tyr_ligase - no_errors TTLL10 HGNC TTN 7273 genome.wustl.edu 37 2 179610565 179610565 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 2 179610565 179610565 G A SNP TTN ENST00000360870 human ensembl 70_37 -1 known missense c.16562 p.S5521F 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors TTN HGNC TXLNA 200081 genome.wustl.edu 37 1 32660604 32660604 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 1 32660604 32660604 G C SNP TXLNA ENST00000373609 human ensembl 70_37 +1 known missense c.1449 p.K483N 1.000 NULL pfam_Taxilin_fam - no_errors TXLNA HGNC TXLNA 200081 genome.wustl.edu 37 1 32660659 32660659 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 1 32660659 32660659 G C SNP TXLNA ENST00000373609 human ensembl 70_37 +1 known missense c.1504 p.E502Q 0.939 NULL pfam_Taxilin_fam - no_errors TXLNA HGNC UBE3A 7337 genome.wustl.edu 37 15 25599737 25599737 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 15 25599737 25599737 C T SNP UBE3A ENST00000397954 human ensembl 70_37 -1 known missense c.2227 p.E743K 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pirsf_Ubiquitin-protein_ligase_E6-AP,pfscan_HECT pfam_HECT,superfamily_HECT,smart_HECT,pirsf_Ubiquitin-protein_ligase_E6-AP,pfscan_HECT - no_errors UBE3A HGNC UBR1 197131 genome.wustl.edu 37 15 43330009 43330009 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 15 43330009 43330009 C T SNP UBR1 ENST00000290650 human ensembl 70_37 -1 known missense c.1984 p.E662K 1.000 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR1 HGNC UNC13C 440279 genome.wustl.edu 37 15 54630687 54630687 + Silent SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 15 54630687 54630687 G A SNP UNC13C ENST00000260323 human ensembl 70_37 +1 known silent c.4713 p.P1571 1.000 pfam_Ca-dep_secretion_activator pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC USH2A 7399 genome.wustl.edu 37 1 215807849 215807849 + Silent SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 1 215807849 215807849 C T SNP USH2A ENST00000366943 human ensembl 70_37 -1 known silent c.15249 p.Q5083 0.995 NULL pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC USP22 23326 genome.wustl.edu 37 17 20919105 20919105 + Silent SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 17 20919105 20919105 G A SNP USP22 ENST00000261497 human ensembl 70_37 -1 known silent c.798 p.F266 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP22 HGNC VPS13C 54832 genome.wustl.edu 37 15 62258338 62258338 + Missense_Mutation SNP C C A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 15 62258338 62258338 C A SNP VPS13C ENST00000261517 human ensembl 70_37 -1 known missense c.2995 p.D999Y 1.000 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13C HGNC WBSCR16 81554 genome.wustl.edu 37 7 74486521 74486521 + Silent SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 7 74486521 74486521 C T SNP WBSCR16 ENST00000329959 human ensembl 70_37 -1 known silent c.387 p.T129 0.947 superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors WBSCR16 HGNC WDR82 80335 genome.wustl.edu 37 3 52312323 52312323 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 3 52312323 52312323 C T SNP WDR82 ENST00000296490 human ensembl 70_37 -1 known missense c.55 p.E19K 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR82 HGNC WIPF1 7456 genome.wustl.edu 37 2 175436608 175436608 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 2 175436608 175436608 G C SNP WIPF1 ENST00000272746 human ensembl 70_37 -1 known missense c.925 p.P309A 0.714 NULL smart_WH2_dom,pfscan_WH2_dom - no_errors WIPF1 HGNC ZBTB38 253461 genome.wustl.edu 37 3 141161785 141161785 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 3 141161785 141161785 G C SNP ZBTB38 ENST00000321464 human ensembl 70_37 +1 known missense c.558 p.L186F 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB38 HGNC ZER1 10444 genome.wustl.edu 37 9 131503817 131503817 + Silent SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 9 131503817 131503817 C T SNP ZER1 ENST00000291900 human ensembl 70_37 -1 known silent c.1734 p.L578 1.000 superfamily_ARM-type_fold,smart_Armadillo superfamily_ARM-type_fold,smart_Armadillo - no_errors ZER1 HGNC ZNF146 7705 genome.wustl.edu 37 19 36728009 36728009 + Nonsense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 19 36728009 36728009 C T SNP ZNF146 ENST00000443387 human ensembl 70_37 +1 known nonsense c.667 p.Q223* 0.543 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF146 HGNC ZNF213 7760 genome.wustl.edu 37 16 3191192 3191192 + Silent SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 16 3191192 3191192 G A SNP ZNF213 ENST00000396878 human ensembl 70_37 +1 known silent c.1224 p.K408 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF213 HGNC ZNF221 7638 genome.wustl.edu 37 19 44470216 44470216 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 19 44470216 44470216 C T SNP ZNF221 ENST00000251269 human ensembl 70_37 +1 known missense c.562 p.H188Y 0.985 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 ZNF221 HGNC ZNF347 84671 genome.wustl.edu 37 19 53652617 53652617 + Nonsense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 19 53652617 53652617 G A SNP ZNF347 ENST00000452676 human ensembl 70_37 -1 known nonsense c.19 p.Q7* 0.001 superfamily_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF347 HGNC ZNF354B 117608 genome.wustl.edu 37 5 178310999 178310999 + Missense_Mutation SNP C C G TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 5 178310999 178310999 C G SNP ZNF354B ENST00000322434 human ensembl 70_37 +1 known missense c.1546 p.H516D 1.000 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 ZNF354B HGNC ZNF541 84215 genome.wustl.edu 37 19 48024519 48024519 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 19 48024519 48024519 C T SNP ZNF541 ENST00000314121 human ensembl 70_37 -1 known missense c.4060 p.E1354K 1.000 NULL pfam_ELM2_dom,pfam_Znf_C2H2,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors ZNF541 HGNC ZNF549 256051 genome.wustl.edu 37 19 58063842 58063842 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 19 58063842 58063842 G A SNP ZNF549 ENST00000602149 human ensembl 70_37 +1 putative missense c.289 p.D97N 0.000 pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF549 HGNC ZNF619 285267 genome.wustl.edu 37 3 40529414 40529414 + Silent SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 3 40529414 40529414 C T SNP ZNF619 ENST00000447116 human ensembl 70_37 +1 known silent c.1533 p.F511 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 ZNF619 HGNC ZNF619 285267 genome.wustl.edu 37 3 40529424 40529424 + Nonsense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 3 40529424 40529424 C T SNP ZNF619 ENST00000447116 human ensembl 70_37 +1 known nonsense c.1543 p.Q515* 1.000 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 ZNF619 HGNC ZNF627 199692 genome.wustl.edu 37 19 11725659 11725659 + Nonsense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa750e98-4ce1-4cd0-b560-ff2629b9fac8 72a08b7c-3461-40f1-970c-54eedfdc0279 19 11725659 11725659 C T SNP ZNF627 ENST00000361113 human ensembl 70_37 +1 known nonsense c.148 p.Q50* 0.008 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF627 HGNC