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 ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF ABL1 0 genome.wustl.edu 37 9 133748332 133748332 + Silent SNP C C T TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 9 133748332 133748332 C T SNP ABL1 ENST00000372348 human ensembl 74_37 +1 known silent c.1050 p.N350 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL1 HGNC ENSG00000097007 tier1 - - 59 0 0.00 76 5 6.17 ACTN2 0 genome.wustl.edu 37 1 236902618 236902618 + Missense_Mutation SNP G G A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 1 236902618 236902618 G A SNP ACTN2 ENST00000366578 human ensembl 74_37 +1 known missense c.893 p.R298H 1.000 pfam_Spectrin_repeat pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN2 HGNC ENSG00000077522 tier1 rs142482143 - 114 0 0.00 94 14 12.96 ANK1 0 genome.wustl.edu 37 8 41563684 41563684 + Missense_Mutation SNP C C T TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 8 41563684 41563684 C T SNP ANK1 ENST00000396942 human ensembl 74_37 -1 known missense c.2074 p.V692I 0.984 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 tier1 - - 86 0 0.00 46 9 16.36 ANK2 0 genome.wustl.edu 37 4 114290876 114290876 + Missense_Mutation SNP G G A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 4 114290876 114290876 G A SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known missense c.11525 p.R3842Q 0.006 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 tier1 - - 52 0 0.00 51 6 10.34 ARHGAP1 0 genome.wustl.edu 37 11 46700614 46700614 + Silent SNP G G A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 11 46700614 46700614 G A SNP ARHGAP1 ENST00000311956 human ensembl 74_37 -1 known silent c.1293 p.F431 0.856 superfamily_Rho_GTPase_activation_prot,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_CRAL-TRIO_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_RhoGAP_dom,pfscan_CRAL-TRIO_dom,pfscan_RhoGAP_dom - no_errors ARHGAP1 HGNC ENSG00000175220 tier1 - - 40 0 0.00 26 7 21.21 ASPG 0 genome.wustl.edu 37 14 104575605 104575605 + Silent SNP C C T TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 14 104575605 104575605 C T SNP ASPG ENST00000455920 human ensembl 74_37 +1 known silent c.1473 p.A491 0.989 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Asparaginase/glutaminase,pfam_Ankyrin_rpt,superfamily_Asparaginase/glutaminase,superfamily_Ankyrin_rpt-contain_dom,smart_Asparaginase/glutaminase,smart_Ankyrin_rpt,prints_Asparaginase/glutaminase,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_AsnASEI - no_errors ASPG HGNC ENSG00000166183 tier1 - - 25 0 0.00 21 6 22.22 ATP10A 0 genome.wustl.edu 37 15 25972400 25972400 + Missense_Mutation SNP C C T TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 15 25972400 25972400 C T SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known missense c.754 p.G252R 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10A HGNC ENSG00000206190 tier1 - - 61 0 0.00 44 10 18.52 ATP1B4 0 genome.wustl.edu 37 X 119505007 119505007 + Silent SNP C C T TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 X 119505007 119505007 C T SNP ATP1B4 ENST00000218008 human ensembl 74_37 +1 known silent c.504 p.N168 1.000 pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta - no_errors ATP1B4 HGNC ENSG00000101892 tier1 - - 141 0 0.00 113 55 32.74 ATR 0 genome.wustl.edu 37 3 142285059 142285059 + Missense_Mutation SNP C C G TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 3 142285059 142285059 C G SNP ATR ENST00000350721 human ensembl 74_37 -1 known missense c.196 p.V66L 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC ENSG00000175054 tier1 - - 79 0 0.00 55 40 41.67 C20orf26 0 genome.wustl.edu 37 20 20279001 20279001 + Silent SNP C C T TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 20 20279001 20279001 C T SNP C20orf26 ENST00000245957 human ensembl 74_37 +1 known silent c.3393 p.Y1131 0.000 NULL superfamily_Acyl_CoA_acyltransferase - no_errors C20orf26 HGNC ENSG00000089101 tier1 - - 38 0 0.00 42 7 14.29 C5 0 genome.wustl.edu 37 9 123776310 123776312 + In_Frame_Del DEL AAC AAC - TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 AAC AAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 9 123776310 123776312 AAC - DEL C5 ENST00000223642 human ensembl 74_37 -1 known in_frame_del c.2098_2096 p.C699in_frame_del 0.007:0.027:0.982 pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,pfscan_Anaphylatoxin/fibulin,prints_Anaphylatoxn_comp_syst_dom 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_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn_comp_syst_dom - no_errors C5 HGNC ENSG00000106804 tier1 56 0 0.00 65 18 21.69 CALCOCO1 0 genome.wustl.edu 37 12 54107573 54107573 + Missense_Mutation SNP C C T TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 12 54107573 54107573 C T SNP CALCOCO1 ENST00000550804 human ensembl 74_37 -1 known missense c.1703 p.R568Q 0.905 pfam_CoCoA pfam_CoCoA - no_errors CALCOCO1 HGNC ENSG00000012822 tier1 - - 90 0 0.00 60 19 24.05 CAMK1D 0 genome.wustl.edu 37 10 12708893 12708893 + RNA SNP T T C TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 10 12708893 12708893 T C SNP CAMK1D ENST00000487696 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CAMK1D HGNC ENSG00000183049 tier1 - - 56 0 0.00 48 10 17.24 CCDC30 0 genome.wustl.edu 37 1 43119642 43119642 + Silent SNP G G A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 1 43119642 43119642 G A SNP CCDC30 ENST00000340612 human ensembl 74_37 +1 known silent c.2295 p.V765 0.001 NULL NULL - no_errors CCDC30 HGNC ENSG00000186409 tier1 - - 65 0 0.00 53 13 19.70 CCDC71 0 genome.wustl.edu 37 3 49200593 49200593 + Missense_Mutation SNP C C T TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 3 49200593 49200593 C T SNP CCDC71 ENST00000321895 human ensembl 74_37 -1 known missense c.1049 p.R350Q 0.000 NULL NULL - no_errors CCDC71 HGNC ENSG00000177352 tier1 - - 51 0 0.00 55 16 22.54 CES5A 0 genome.wustl.edu 37 16 55903557 55903557 + Missense_Mutation SNP C C T TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 16 55903557 55903557 C T SNP CES5A ENST00000521992 human ensembl 74_37 -1 known missense c.604 p.V202I 0.000 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES5A HGNC ENSG00000159398 tier1 - - 61 0 0.00 51 8 13.56 CHGA 0 genome.wustl.edu 37 14 93397759 93397761 + In_Frame_Del DEL GAG GAG - TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 14 93397759 93397761 GAG - DEL CHGA ENST00000216492 human ensembl 74_37 +1 known in_frame_del c.520_522 p.E177in_frame_del 0.168:0.190:0.200 pfam_Granin pfam_Granin,prints_Chromogranin_AB - no_errors CHGA HGNC ENSG00000100604 tier1 12 0 0.00 4 2 33.33 CLASP2 0 genome.wustl.edu 37 3 33668539 33668539 + Missense_Mutation SNP T T G TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 3 33668539 33668539 T G SNP CLASP2 ENST00000399362 human ensembl 74_37 -1 known missense c.976 p.N326H 1.000 pfam_CLASP_N_dom,superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP2 HGNC ENSG00000163539 tier1 - - 15 0 0.00 3 9 75.00 CLCN5 0 genome.wustl.edu 37 X 49837207 49837207 + Missense_Mutation SNP G G A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 X 49837207 49837207 G A SNP CLCN5 ENST00000376088 human ensembl 74_37 +1 known missense c.379 p.G127S 1.000 superfamily_Cl-channel_core pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-5 - no_errors CLCN5 HGNC ENSG00000171365 tier1 - - 122 0 0.00 144 24 14.29 CMYA5 0 genome.wustl.edu 37 5 79030639 79030639 + Missense_Mutation SNP A A C TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 5 79030639 79030639 A C SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known missense c.6051 p.E2017D 0.240 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 tier1 - - 28 0 0.00 41 16 28.07 CNR1 0 genome.wustl.edu 37 6 88854841 88854841 + Silent SNP A A C TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 6 88854841 88854841 A C SNP CNR1 ENST00000369499 human ensembl 74_37 -1 known silent c.153 p.T51 0.894 pirsf_Canbinoid_rcpt_1,prints_Canbinoid_rcpt_1 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_Canbinoid_rcpt_1,prints_Cnbnoid_rcpt,prints_GPCR_Rhodpsn - no_errors CNR1 HGNC ENSG00000118432 tier1 - - 52 0 0.00 32 10 23.81 CNR2 0 genome.wustl.edu 37 1 24201527 24201527 + Nonsense_Mutation SNP C C T TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 1 24201527 24201527 C T SNP CNR2 ENST00000374472 human ensembl 74_37 -1 known nonsense c.581 p.W194* 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Cnbnoid_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Canbinoid_rcpt_2,prints_Cnbnoid_rcpt,prints_GPCR_Rhodpsn - no_errors CNR2 HGNC ENSG00000188822 28 0 0.00 33 4 10.81 CSHL1 0 genome.wustl.edu 37 17 61987115 61987115 + Missense_Mutation SNP G G A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 17 61987115 61987115 G A SNP CSHL1 ENST00000309894 human ensembl 74_37 -1 known missense c.625 p.R209C 1.000 pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors CSHL1 HGNC ENSG00000204414 tier1 - - 85 0 0.00 68 31 31.31 CSPG4 0 genome.wustl.edu 37 15 75978041 75978041 + Missense_Mutation SNP G G T TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 15 75978041 75978041 G T SNP CSPG4 ENST00000308508 human ensembl 74_37 -1 known missense c.3791 p.A1264E 0.757 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 14 0 0.00 16 4 20.00 CTNND2 0 genome.wustl.edu 37 5 11732283 11732283 + Missense_Mutation SNP T T C TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 5 11732283 11732283 T C SNP CTNND2 ENST00000304623 human ensembl 74_37 -1 known missense c.139 p.T47A 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 tier1 - - 99 0 0.00 87 30 25.64 CUBN 0 genome.wustl.edu 37 10 17032414 17032414 + Silent SNP C C T TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 10 17032414 17032414 C T SNP CUBN ENST00000377833 human ensembl 74_37 -1 known silent c.4269 p.T1423 0.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 tier1 - - 83 0 0.00 84 24 22.22 CYLC1 0 genome.wustl.edu 37 X 83127906 83127906 + Silent SNP A A C TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 X 83127906 83127906 A C SNP CYLC1 ENST00000329312 human ensembl 74_37 +1 known silent c.190 p.R64 0.006 NULL NULL - no_errors CYLC1 HGNC ENSG00000183035 tier1 - - 29 0 0.00 23 5 17.86 CYLC1 0 genome.wustl.edu 37 X 83127912 83127912 + Missense_Mutation SNP C C A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 X 83127912 83127912 C A SNP CYLC1 ENST00000329312 human ensembl 74_37 +1 known missense c.196 p.L66I 0.000 NULL NULL - no_errors CYLC1 HGNC ENSG00000183035 tier1 - - 30 0 0.00 25 4 13.79 CYP4A22 0 genome.wustl.edu 37 1 47609559 47609559 + Missense_Mutation SNP G G A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 1 47609559 47609559 G A SNP CYP4A22 ENST00000371891 human ensembl 74_37 +1 known missense c.761 p.R254H 0.006 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV - no_errors CYP4A22 HGNC ENSG00000162365 tier1 - - 98 0 0.00 71 15 17.44 CYP4F2 0 genome.wustl.edu 37 19 15989601 15989601 + Missense_Mutation SNP G G A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 19 15989601 15989601 G A SNP CYP4F2 ENST00000221700 human ensembl 74_37 -1 known missense c.1543 p.R515W 0.984 superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F2 HGNC ENSG00000186115 tier1 - - 29 0 0.00 19 8 29.63 DCAF12L1 0 genome.wustl.edu 37 X 125686535 125686535 + Silent SNP G G A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 X 125686535 125686535 G A SNP DCAF12L1 ENST00000371126 human ensembl 74_37 -1 known silent c.57 p.D19 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L1 HGNC ENSG00000198889 tier1 - - 94 0 0.00 62 8 11.43 DCDC1 0 genome.wustl.edu 37 11 31312195 31312195 + Missense_Mutation SNP T T C TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 11 31312195 31312195 T C SNP DCDC1 ENST00000452803 human ensembl 74_37 -1 known missense c.959 p.K320R 1.000 NULL pfscan_Doublecortin_dom - no_errors DCDC1 HGNC ENSG00000170959 tier1 - - 47 0 0.00 83 17 17.00 DEDD 0 genome.wustl.edu 37 1 161092804 161092804 + Missense_Mutation SNP A A G TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 1 161092804 161092804 A G SNP DEDD ENST00000368005 human ensembl 74_37 -1 known missense c.641 p.L214P 0.000 NULL pfam_DED,superfamily_DEATH-like_dom,smart_DED,pfscan_DED - no_errors DEDD HGNC ENSG00000158796 tier1 - - 82 0 0.00 94 22 18.80 DENND1A 0 genome.wustl.edu 37 9 126439026 126439026 + Silent SNP G G T TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 9 126439026 126439026 G T SNP DENND1A ENST00000394219 human ensembl 74_37 -1 known silent c.249 p.I83 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND1A HGNC ENSG00000119522 tier1 - - 61 0 0.00 81 10 10.99 DHTKD1 0 genome.wustl.edu 37 10 12139778 12139778 + Missense_Mutation SNP A A G TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 10 12139778 12139778 A G SNP DHTKD1 ENST00000263035 human ensembl 74_37 +1 known missense c.1454 p.Y485C 0.995 pfam_DH_E1,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_Transketolase-like_Pyr-bd,pfam_DH_E1,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors DHTKD1 HGNC ENSG00000181192 tier1 - - 73 0 0.00 54 7 11.48 DMRT1 0 genome.wustl.edu 37 9 916907 916907 + Missense_Mutation SNP G G A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 9 916907 916907 G A SNP DMRT1 ENST00000382276 human ensembl 74_37 +1 known missense c.967 p.V323I 0.979 NULL pfam_DM_DNA-bd,pfam_DMRT1-like,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRT1 HGNC ENSG00000137090 tier1 - - 46 0 0.00 42 9 17.31 DNAH5 0 genome.wustl.edu 37 5 13865950 13865950 + Silent SNP C C T TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 5 13865950 13865950 C T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known silent c.4182 p.L1394 0.602 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 tier1 - - 64 0 0.00 81 10 10.99 DPY19L4 0 genome.wustl.edu 37 8 95802137 95802137 + Silent SNP G G A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 8 95802137 95802137 G A SNP DPY19L4 ENST00000414645 human ensembl 74_37 +1 known silent c.2171 p.*724 1.000 NULL pfam_Dpy-19 - no_errors DPY19L4 HGNC ENSG00000156162 tier1 - - 176 0 0.00 291 43 12.80 DSP 0 genome.wustl.edu 37 6 7571732 7571732 + Silent SNP G G A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 6 7571732 7571732 G A SNP DSP ENST00000379802 human ensembl 74_37 +1 known silent c.1818 p.R606 0.998 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 tier1 - - 171 0 0.00 163 33 16.75 DYNC1I1 0 genome.wustl.edu 37 7 95439731 95439731 + Missense_Mutation SNP G G A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 7 95439731 95439731 G A SNP DYNC1I1 ENST00000324972 human ensembl 74_37 +1 known missense c.136 p.V46I 0.573 NULL pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I1 HGNC ENSG00000158560 47 0 0.00 52 6 10.34 ELL 0 genome.wustl.edu 37 19 18576361 18576361 + Silent SNP G G A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 19 18576361 18576361 G A SNP ELL ENST00000262809 human ensembl 74_37 -1 known silent c.330 p.C110 1.000 pfam_RNA_pol_II_elong_fac_ELL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL HGNC ENSG00000105656 tier1 - - 28 0 0.00 21 4 16.00 ENSG00000259648 0 genome.wustl.edu 37 14 68082455 68082455 + RNA DEL A A - TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 14 68082455 68082455 A - DEL ENSG00000259648 ENST00000559968 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors RP11-643G16.4 Clone_based_vega_gene ENSG00000259648 tier1 34 0 0.00 22 3 12.00 EPHB3 0 genome.wustl.edu 37 3 184290766 184290766 + Missense_Mutation SNP G G A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 3 184290766 184290766 G A SNP EPHB3 ENST00000330394 human ensembl 74_37 +1 known missense c.658 p.A220T 1.000 pirsf_Tyr_kinase_ephrin_rcpt pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB3 HGNC ENSG00000182580 51 0 0.00 47 3 6.00 EPPK1 0 genome.wustl.edu 37 8 144941154 144941154 + Silent SNP G G T TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 8 144941154 144941154 G T SNP EPPK1 ENST00000525985 human ensembl 74_37 -1 known silent c.6268 p.R2090 0.000 NULL pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 tier1 - - 104 0 0.00 111 12 9.76 ERCC3 0 genome.wustl.edu 37 2 128046944 128046946 + In_Frame_Del DEL TCT TCT - TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 TCT TCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 2 128046944 128046946 TCT - DEL ERCC3 ENST00000285398 human ensembl 74_37 -1 known in_frame_del c.791_789 p.E264in_frame_del 1.000:1.000:1.000 superfamily_P-loop_NTPase,tigrfam_Helicase_Ercc3 pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_Helicase_Ercc3,tigrfam_Helicase_Ercc3 - no_errors ERCC3 HGNC ENSG00000163161 tier1 39 0 0.00 36 3 7.69 ERCC4 0 genome.wustl.edu 37 16 14029219 14029219 + Missense_Mutation SNP G G A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 16 14029219 14029219 G A SNP ERCC4 ENST00000311895 human ensembl 74_37 +1 known missense c.1430 p.R477Q 0.000 tigrfam_Rad1 pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_ERCC4_domain,tigrfam_Rad1 - no_errors ERCC4 HGNC ENSG00000175595 tier1 - - 48 0 0.00 58 8 12.12 FAM227B 0 genome.wustl.edu 37 15 49663506 49663506 + Missense_Mutation SNP G G A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 15 49663506 49663506 G A SNP FAM227B ENST00000299338 human ensembl 74_37 -1 known missense c.1103 p.A368V 0.010 NULL NULL - no_errors FAM227B HGNC ENSG00000166262 tier1 - - 146 0 0.00 131 59 30.73 FAM71A 0 genome.wustl.edu 37 1 212799163 212799163 + Missense_Mutation SNP C C T TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 1 212799163 212799163 C T SNP FAM71A ENST00000294829 human ensembl 74_37 +1 known missense c.944 p.A315V 0.000 NULL pfam_DUF3699 - no_errors FAM71A HGNC ENSG00000162771 tier1 - - 36 0 0.00 30 6 16.67 FBXW5 0 genome.wustl.edu 37 9 139837000 139837000 + Missense_Mutation SNP T T G TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 9 139837000 139837000 T G SNP FBXW5 ENST00000325285 human ensembl 74_37 -1 known missense c.674 p.Q225P 1.000 superfamily_Quinoprot_gluc/sorb_DH pfam_WD40_repeat,pfam_F-box_dom,superfamily_Quinoprot_gluc/sorb_DH,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FBXW5 HGNC ENSG00000159069 tier1 - - 19 0 0.00 14 5 25.00 FCGBP 0 genome.wustl.edu 37 19 40392594 40392594 + Missense_Mutation SNP G G A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 19 40392594 40392594 G A SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.7910 p.P2637L 0.005 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 tier1 rs139250740 - 73 0 0.00 58 9 13.43 FMO4 0 genome.wustl.edu 37 1 171310750 171310750 + Missense_Mutation SNP A A T TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 1 171310750 171310750 A T SNP FMO4 ENST00000367749 human ensembl 74_37 +1 known missense c.1449 p.R483S 1.000 pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_4,prints_Flavin_mOase_1,prints_Flavin_mOase_3 - no_errors FMO4 HGNC ENSG00000076258 tier1 - - 65 0 0.00 50 8 13.79 FOCAD 0 genome.wustl.edu 37 9 20929534 20929534 + Missense_Mutation SNP C C G TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 9 20929534 20929534 C G SNP FOCAD ENST00000338382 human ensembl 74_37 +1 known missense c.3256 p.Q1086E 1.000 superfamily_ARM-type_fold pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold - no_errors FOCAD HGNC ENSG00000188352 125 0 0.00 117 10 7.87 FPR3 0 genome.wustl.edu 37 19 52327283 52327283 + Silent SNP C C A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 19 52327283 52327283 C A SNP FPR3 ENST00000339223 human ensembl 74_37 +1 known silent c.282 p.G94 0.351 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt - no_errors FPR3 HGNC ENSG00000187474 tier1 - - 76 0 0.00 102 9 8.04 FRG1B 0 genome.wustl.edu 37 20 29624093 29624093 + Splice_Site SNP G G T TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 20 29624093 29624093 G T SNP FRG1B ENST00000278882 human ensembl 74_37 +1 known splice_site c.116+1 e2+1 1.000 - - - no_errors FRG1B HGNC ENSG00000149531 18 0 0.00 25 5 16.67 FZD7 0 genome.wustl.edu 37 2 202900837 202900837 + Nonsense_Mutation SNP C C A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 2 202900837 202900837 C A SNP FZD7 ENST00000286201 human ensembl 74_37 +1 known nonsense c.1467 p.Y489* 1.000 pfam_Frizzled,pfscan_GPCR_2-like pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD7 HGNC ENSG00000155760 tier1 - - 50 0 0.00 42 9 17.65 GIMAP6 0 genome.wustl.edu 37 7 150325356 150325356 + Missense_Mutation SNP G G A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 7 150325356 150325356 G A SNP GIMAP6 ENST00000493969 human ensembl 74_37 -1 known missense c.106 p.R36C 0.000 NULL NULL - no_errors GIMAP6 HGNC ENSG00000133561 tier1 - - 64 0 0.00 63 7 10.00 GLUD2 0 genome.wustl.edu 37 X 120182120 120182120 + Silent SNP C C T TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 X 120182120 120182120 C T SNP GLUD2 ENST00000328078 human ensembl 74_37 +1 known silent c.582 p.T194 0.920 pfam_Glu/Leu/Phe/Val_DH_dimer_dom pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH - no_errors GLUD2 HGNC ENSG00000182890 tier1 - - 135 0 0.00 187 24 11.37 GOLGA3 0 genome.wustl.edu 37 12 133351867 133351867 + Missense_Mutation SNP C C T TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 12 133351867 133351867 C T SNP GOLGA3 ENST00000204726 human ensembl 74_37 -1 known missense c.4003 p.A1335T 0.509 NULL superfamily_Prefoldin - no_errors GOLGA3 HGNC ENSG00000090615 tier1 - - 73 0 0.00 45 10 18.18 GOLGA8S 0 genome.wustl.edu 37 15 23605430 23605430 + Missense_Mutation SNP C C T TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 15 23605430 23605430 C T SNP GOLGA8S ENST00000562295 human ensembl 74_37 +1 novel missense c.643 p.R215W 0.405 NULL NULL - no_errors GOLGA8S HGNC ENSG00000261739 tier1 - - 117 0 0.00 113 24 17.52 GRIA1 0 genome.wustl.edu 37 5 153144132 153144132 + Silent SNP G G A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 5 153144132 153144132 G A SNP GRIA1 ENST00000448073 human ensembl 74_37 +1 known silent c.1992 p.A664 0.941 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA1 HGNC ENSG00000155511 tier1 - - 34 0 0.00 42 8 15.69 GRIA2 0 genome.wustl.edu 37 4 158281118 158281118 + Missense_Mutation SNP G G A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 4 158281118 158281118 G A SNP GRIA2 ENST00000264426 human ensembl 74_37 +1 known missense c.2114 p.R705K 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA2 HGNC ENSG00000120251 tier1 - - 48 0 0.00 39 10 20.41 GTF2IRD2P1 0 genome.wustl.edu 37 7 72658645 72658645 + RNA SNP G G A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 7 72658645 72658645 G A SNP GTF2IRD2P1 ENST00000425256 human ensembl 74_37 -1 known rna NULL NULL 0.020 - - - no_errors GTF2IRD2P1 HGNC ENSG00000214544 tier1 - - 38 0 0.00 26 8 23.53 HCN1 0 genome.wustl.edu 37 5 45695890 45695890 + Silent SNP C C A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 5 45695890 45695890 C A SNP HCN1 ENST00000303230 human ensembl 74_37 -1 known silent c.306 p.L102 1.000 pfam_Ion_trans_N pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN1 HGNC ENSG00000164588 tier1 - - 44 0 0.00 95 10 9.52 HECTD3 0 genome.wustl.edu 37 1 45475899 45475899 + Silent SNP T T C TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 1 45475899 45475899 T C SNP HECTD3 ENST00000372172 human ensembl 74_37 -1 known silent c.597 p.A199 0.209 superfamily_Galactose-bd-like pfam_HECT,pfam_APC_su10/DOC_dom,superfamily_HECT,superfamily_Galactose-bd-like,smart_HECT,pfscan_HECT - no_errors HECTD3 HGNC ENSG00000126107 tier1 - - 71 0 0.00 53 14 20.59 HERC4 0 genome.wustl.edu 37 10 69716694 69716694 + Missense_Mutation SNP C C T TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 10 69716694 69716694 C T SNP HERC4 ENST00000395198 human ensembl 74_37 -1 known missense c.1990 p.V664I 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC4 HGNC ENSG00000148634 tier1 - - 158 0 0.00 140 49 25.79 HIST1H2AI 0 genome.wustl.edu 37 6 27775995 27775995 + Missense_Mutation SNP G G A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 6 27775995 27775995 G A SNP HIST1H2AI ENST00000358739 human ensembl 74_37 +1 known missense c.8 p.G3E 1.000 superfamily_Histone-fold,smart_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AI HGNC ENSG00000196747 tier1 - - 127 0 0.00 117 17 12.69 HOOK2 0 genome.wustl.edu 37 19 12876969 12876969 + Missense_Mutation SNP G G A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 19 12876969 12876969 G A SNP HOOK2 ENST00000397668 human ensembl 74_37 -1 known missense c.1459 p.R487C 1.000 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_UBA-like - no_errors HOOK2 HGNC ENSG00000095066 tier1 - - 34 0 0.00 11 7 38.89 ITPRIPL2 0 genome.wustl.edu 37 16 19127266 19127266 + Silent SNP C C A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 16 19127266 19127266 C A SNP ITPRIPL2 ENST00000381440 human ensembl 74_37 +1 known silent c.1483 p.R495 0.260 NULL NULL - no_errors ITPRIPL2 HGNC ENSG00000205730 tier1 - - 86 0 0.00 54 14 20.59 JMJD7 0 genome.wustl.edu 37 15 42129322 42129322 + Missense_Mutation SNP G G A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 15 42129322 42129322 G A SNP JMJD7 ENST00000397299 human ensembl 74_37 +1 known missense c.919 p.D307N 1.000 smart_JmjC_dom,pfscan_JmjC_dom smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD7 HGNC ENSG00000243789 tier1 - - 20 0 0.00 12 4 25.00 KCNA6 0 genome.wustl.edu 37 12 4919293 4919293 + Missense_Mutation SNP C C T TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 12 4919293 4919293 C T SNP KCNA6 ENST00000280684 human ensembl 74_37 +1 known missense c.86 p.P29L 0.496 prints_K_chnl_volt-dep_Kv1.6 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA6 HGNC ENSG00000151079 tier1 - - 68 0 0.00 54 7 11.48 KCNH6 0 genome.wustl.edu 37 17 61615544 61615544 + Missense_Mutation SNP G G T TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 17 61615544 61615544 G T SNP KCNH6 ENST00000583023 human ensembl 74_37 +1 known missense c.1620 p.Q540H 1.000 superfamily_cNMP-bd-like,prints_K_chnl_volt-dep_ERG pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_ELK,prints_2pore_dom_K_chnl,pfscan_cNMP-bd_dom - no_errors KCNH6 HGNC ENSG00000173826 tier1 - - 56 0 0.00 38 12 24.00 KIAA0100 0 genome.wustl.edu 37 17 26950941 26950941 + Missense_Mutation SNP G G A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 17 26950941 26950941 G A SNP KIAA0100 ENST00000528896 human ensembl 74_37 -1 known missense c.4796 p.S1599L 1.000 NULL pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC ENSG00000007202 tier1 - - 78 0 0.00 82 42 33.87 KIR3DL1 0 genome.wustl.edu 37 19 55329947 55329947 + Missense_Mutation SNP G G T TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 19 55329947 55329947 G T SNP KIR3DL1 ENST00000402254 human ensembl 74_37 +1 known missense c.248 p.S83I 0.109 pfam_Immunoglobulin,smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR3DL1 HGNC ENSG00000167633 tier1 - - 82 0 0.00 115 22 15.94 KLF12 0 genome.wustl.edu 37 13 74420281 74420281 + Missense_Mutation SNP G G A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 13 74420281 74420281 G A SNP KLF12 ENST00000377666 human ensembl 74_37 -1 known missense c.353 p.S118L 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF12 HGNC ENSG00000118922 tier1 rs150943448 - 36 0 0.00 39 12 23.53 KLHL1 0 genome.wustl.edu 37 13 70549758 70549758 + Missense_Mutation SNP G G T TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 13 70549758 70549758 G T SNP KLHL1 ENST00000377844 human ensembl 74_37 -1 known missense c.674 p.A225E 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL1 HGNC ENSG00000150361 tier1 - - 118 0 0.00 150 21 12.28 KRT18P55 0 genome.wustl.edu 37 17 26633118 26633118 + Splice_Site SNP A A T TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 17 26633118 26633118 A T SNP KRT18P55 ENST00000577198 human ensembl 74_37 -1 known splice_site c.NULL NULL 0.458 - - - no_errors KRT18P55 HGNC ENSG00000265480 16 0 0.00 28 3 9.68 KRT25 0 genome.wustl.edu 37 17 38910187 38910187 + Silent SNP C C T TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 17 38910187 38910187 C T SNP KRT25 ENST00000312150 human ensembl 74_37 -1 known silent c.594 p.L198 0.999 pfam_IF,prints_Keratin_I pfam_IF,prints_Keratin_I - no_errors KRT25 HGNC ENSG00000204897 tier1 - - 101 0 0.00 127 24 15.89 L3MBTL4 0 genome.wustl.edu 37 18 6213160 6213160 + Missense_Mutation SNP G G T TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 18 6213160 6213160 G T SNP L3MBTL4 ENST00000284898 human ensembl 74_37 -1 known missense c.969 p.D323E 1.000 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_SAM_type1,pfam_Znf_C2HC,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors L3MBTL4 HGNC ENSG00000154655 tier1 - - 52 0 0.00 73 10 12.05 LGSN 0 genome.wustl.edu 37 6 63990394 63990394 + Silent SNP C C T TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 6 63990394 63990394 C T SNP LGSN ENST00000370657 human ensembl 74_37 -1 known silent c.1062 p.A354 0.822 pfam_Gln_synth_cat_dom pfam_Gln_synth_cat_dom,pfam_Gln_synt_beta,superfamily_Gln_synt_beta - no_errors LGSN HGNC ENSG00000146166 tier1 rs138743031 - 136 0 0.00 102 32 23.88 LPGAT1 0 genome.wustl.edu 37 1 211923356 211923356 + Missense_Mutation SNP A A G TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 1 211923356 211923356 A G SNP LPGAT1 ENST00000366997 human ensembl 74_37 -1 known missense c.998 p.V333A 0.685 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors LPGAT1 HGNC ENSG00000123684 tier1 - - 120 0 0.00 121 16 11.68 LRMP 0 genome.wustl.edu 37 12 25260805 25260805 + Silent SNP T T A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 12 25260805 25260805 T A SNP LRMP ENST00000354454 human ensembl 74_37 +1 known silent c.1311 p.A437 0.000 pfam_MRVI1 pfam_MRVI1 - no_errors LRMP HGNC ENSG00000118308 tier1 - - 101 0 0.00 104 23 17.97 LRRIQ3 0 genome.wustl.edu 37 1 74621407 74621407 + RNA SNP C C T TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 1 74621407 74621407 C T SNP LRRIQ3 ENST00000495179 human ensembl 74_37 -1 putative rna NULL NULL 0.003 - - - no_errors LRRIQ3 HGNC ENSG00000162620 tier1 - - 104 0 0.00 151 19 11.18 LUZP2 0 genome.wustl.edu 37 11 24936055 24936055 + Missense_Mutation SNP C C A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 11 24936055 24936055 C A SNP LUZP2 ENST00000336930 human ensembl 74_37 +1 known missense c.493 p.R165S 1.000 NULL NULL - no_errors LUZP2 HGNC ENSG00000187398 tier1 - - 44 0 0.00 38 18 32.14 MAATS1 0 genome.wustl.edu 37 3 119462954 119462954 + Missense_Mutation SNP C C T TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 3 119462954 119462954 C T SNP MAATS1 ENST00000273390 human ensembl 74_37 +1 known missense c.1813 p.R605C 0.986 NULL superfamily_S-AdoMet_deCO2ase_core - no_errors MAATS1 HGNC ENSG00000183833 tier1 rs142545565 - 82 0 0.00 84 20 19.23 MBD3L3 0 genome.wustl.edu 37 19 7056537 7056537 + Silent SNP G G A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 19 7056537 7056537 G A SNP MBD3L3 ENST00000333843 human ensembl 74_37 -1 known silent c.423 p.P141 0.010 NULL NULL - no_errors MBD3L3 HGNC ENSG00000182315 tier1 rs201991311 - 12 0 0.00 6 6 50.00 MIR663B 0 genome.wustl.edu 37 2 133014651 133014652 + RNA INS - - C TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 2 133014651 133014652 - C INS MIR663B ENST00000408361 human ensembl 74_37 -1 known rna NULL NULL 0.027:0.014 - - - no_errors MIR663B HGNC ENSG00000221288 tier1 10 0 0.00 9 6 40.00 MPG 0 genome.wustl.edu 37 16 129443 129443 + Frame_Shift_Del DEL A A - TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 16 129443 129443 A - DEL MPG ENST00000219431 human ensembl 74_37 +1 known frame_shift_del c.59 p.K21fs 0.958 NULL pfam_PurDNA_glycsylse,superfamily_Formyl_transferase_C-like,tigrfam_PurDNA_glycsylse - no_errors MPG HGNC ENSG00000103152 tier1 93 0 0.00 72 10 12.20 MPG 0 genome.wustl.edu 37 16 129444 129444 + Missense_Mutation SNP A A T TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 16 129444 129444 A T SNP MPG ENST00000219431 human ensembl 74_37 +1 known missense c.60 p.Q20H 0.966 NULL pfam_PurDNA_glycsylse,superfamily_Formyl_transferase_C-like,tigrfam_PurDNA_glycsylse - no_errors MPG HGNC ENSG00000103152 tier1 - - 97 0 0.00 71 10 12.20 MTMR11 0 genome.wustl.edu 37 1 149905688 149905688 + RNA SNP G G A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 1 149905688 149905688 G A SNP MTMR11 ENST00000482025 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors MTMR11 HGNC ENSG00000014914 tier1 - - 116 0 0.00 82 17 17.17 MUC17 0 genome.wustl.edu 37 7 100686009 100686009 + Missense_Mutation SNP G G A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 7 100686009 100686009 G A SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.11312 p.S3771N 0.001 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 tier1 - - 76 0 0.00 76 20 20.83 MUS81 0 genome.wustl.edu 37 11 65631344 65631344 + Missense_Mutation SNP T T G TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 11 65631344 65631344 T G SNP MUS81 ENST00000308110 human ensembl 74_37 +1 known missense c.1031 p.I344S 1.000 pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,smart_ERCC4_domain pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_DNA_pol_b-like_N,smart_ERCC4_domain - no_errors MUS81 HGNC ENSG00000172732 tier1 rs138527502 - 107 0 0.00 54 46 46.00 MYO3A 0 genome.wustl.edu 37 10 26463098 26463098 + Missense_Mutation SNP A A G TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 10 26463098 26463098 A G SNP MYO3A ENST00000265944 human ensembl 74_37 +1 known missense c.3905 p.E1302G 0.023 superfamily_P-loop_NTPase pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC ENSG00000095777 tier1 - - 83 0 0.00 94 21 18.26 NAP1L3 0 genome.wustl.edu 37 X 92927706 92927706 + Missense_Mutation SNP G G A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 X 92927706 92927706 G A SNP NAP1L3 ENST00000373079 human ensembl 74_37 -1 known missense c.598 p.P200S 0.000 pfam_NAP_family pfam_NAP_family - no_errors NAP1L3 HGNC ENSG00000186310 tier1 - - 94 0 0.00 98 34 25.76 NBEA 0 genome.wustl.edu 37 13 36245057 36245057 + Missense_Mutation SNP G G C TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 13 36245057 36245057 G C SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.8770 p.A2924P 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom 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 ENSG00000172915 tier1 - - 11 0 0.00 6 5 45.45 NMUR2 0 genome.wustl.edu 37 5 151784462 151784462 + Silent SNP C C T TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 5 151784462 151784462 C T SNP NMUR2 ENST00000255262 human ensembl 74_37 -1 known silent c.213 p.L71 0.047 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NeuromedU_rcpt_2,prints_NeuromedU_rcpt,prints_GPCR_Rhodpsn - no_errors NMUR2 HGNC ENSG00000132911 tier1 - - 61 0 0.00 47 15 24.19 NOTCH1 0 genome.wustl.edu 37 9 139410089 139410089 + Silent SNP G G A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 9 139410089 139410089 G A SNP NOTCH1 ENST00000277541 human ensembl 74_37 -1 known silent c.1749 p.G583 0.998 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 11 0 0.00 9 2 18.18 NRG3 0 genome.wustl.edu 37 10 84498371 84498371 + Missense_Mutation SNP T T G TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 10 84498371 84498371 T G SNP NRG3 ENST00000404547 human ensembl 74_37 +1 known missense c.992 p.F331C 1.000 NULL pfscan_EG-like_dom - no_errors NRG3 HGNC ENSG00000185737 tier1 - - 96 0 0.00 132 32 19.51 NUFIP1 0 genome.wustl.edu 37 13 45515406 45515406 + Missense_Mutation SNP G G A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 13 45515406 45515406 G A SNP NUFIP1 ENST00000379161 human ensembl 74_37 -1 known missense c.1423 p.R475W 1.000 NULL pfam_NUFIP1_cons_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors NUFIP1 HGNC ENSG00000083635 tier1 - - 55 0 0.00 80 11 12.09 NUP205 0 genome.wustl.edu 37 7 135304216 135304216 + Missense_Mutation SNP G G A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 7 135304216 135304216 G A SNP NUP205 ENST00000285968 human ensembl 74_37 +1 known missense c.4009 p.G1337R 0.997 pfam_Nup186/Nup192/Nup205 pfam_Nup186/Nup192/Nup205 - no_errors NUP205 HGNC ENSG00000155561 tier1 - - 79 0 0.00 62 13 17.11 OPRD1 0 genome.wustl.edu 37 1 29189665 29189665 + Missense_Mutation SNP G G A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 1 29189665 29189665 G A SNP OPRD1 ENST00000234961 human ensembl 74_37 +1 known missense c.989 p.R330H 1.000 pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_Somatstn_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Delta_opi_rcpt,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_Somatstn_rcpt,prints_NPY_rcpt - no_errors OPRD1 HGNC ENSG00000116329 tier1 - - 19 0 0.00 13 5 25.00 OR10G7 0 genome.wustl.edu 37 11 123909469 123909469 + Silent SNP C C A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 11 123909469 123909469 C A SNP OR10G7 ENST00000330487 human ensembl 74_37 -1 known silent c.240 p.L80 0.634 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G7 HGNC ENSG00000182634 tier1 - - 115 0 0.00 111 14 11.20 OR10K1 0 genome.wustl.edu 37 1 158435661 158435661 + Missense_Mutation SNP T T G TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 1 158435661 158435661 T G SNP OR10K1 ENST00000289451 human ensembl 74_37 +1 known missense c.310 p.F104V 0.220 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 OR10K1 HGNC ENSG00000173285 tier1 - - 117 0 0.00 126 21 14.19 OR4C6 0 genome.wustl.edu 37 11 55432852 55432852 + Missense_Mutation SNP G G T TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 11 55432852 55432852 G T SNP OR4C6 ENST00000314259 human ensembl 74_37 +1 known missense c.210 p.M70I 0.000 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 OR4C6 HGNC ENSG00000181903 tier1 - - 108 0 0.00 120 13 9.77 OR4C6 0 genome.wustl.edu 37 11 55433199 55433199 + Missense_Mutation SNP C C T TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 11 55433199 55433199 C T SNP OR4C6 ENST00000314259 human ensembl 74_37 +1 known missense c.557 p.A186V 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C6 HGNC ENSG00000181903 tier1 - - 138 0 0.00 113 95 45.67 OR4D10 0 genome.wustl.edu 37 11 59244999 59245000 + Frame_Shift_Del DEL TT TT - TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 11 59244999 59245000 TT - DEL OR4D10 ENST00000530162 human ensembl 74_37 +1 known frame_shift_del c.97_98 p.L33fs 0.000:0.001 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D10 HGNC ENSG00000254466 tier1 57 0 0.00 116 22 15.94 OR4K15 0 genome.wustl.edu 37 14 20444585 20444585 + Missense_Mutation SNP C C T TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 14 20444585 20444585 C T SNP OR4K15 ENST00000305051 human ensembl 74_37 +1 known missense c.908 p.T303M 0.125 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K15 HGNC ENSG00000169488 tier1 - - 100 0 0.00 100 39 28.06 OR5AS1 0 genome.wustl.edu 37 11 55798469 55798469 + Missense_Mutation SNP C C T TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 11 55798469 55798469 C T SNP OR5AS1 ENST00000313555 human ensembl 74_37 +1 known missense c.575 p.T192I 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AS1 HGNC ENSG00000181785 tier1 - - 262 0 0.00 325 45 12.13 OR5R1 0 genome.wustl.edu 37 11 56185700 56185700 + Missense_Mutation SNP T T G TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 11 56185700 56185700 T G SNP OR5R1 ENST00000312253 human ensembl 74_37 -1 known missense c.9 p.E3D 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5R1 HGNC ENSG00000174942 tier1 - - 81 0 0.00 81 18 18.18 OR8J3 0 genome.wustl.edu 37 11 55904631 55904631 + Silent SNP A A C TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 11 55904631 55904631 A C SNP OR8J3 ENST00000301529 human ensembl 74_37 -1 known silent c.564 p.S188 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8J3 HGNC ENSG00000167822 tier1 - - 99 0 0.00 105 15 12.50 OSBPL6 0 genome.wustl.edu 37 2 179197607 179197607 + Nonsense_Mutation SNP C C T TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 2 179197607 179197607 C T SNP OSBPL6 ENST00000315022 human ensembl 74_37 +1 known nonsense c.433 p.Q145* 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL6 HGNC ENSG00000079156 tier1 - - 134 0 0.00 105 45 30.00 PABPC3 0 genome.wustl.edu 37 13 25670781 25670781 + Missense_Mutation SNP G G A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 13 25670781 25670781 G A SNP PABPC3 ENST00000281589 human ensembl 74_37 +1 known missense c.445 p.E149K 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC3 HGNC ENSG00000151846 tier1 - - 163 0 0.00 152 39 20.31 PCDHGA12 0 genome.wustl.edu 37 5 140810887 140810887 + Silent SNP C C T TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 5 140810887 140810887 C T SNP PCDHGA12 ENST00000252085 human ensembl 74_37 +1 known silent c.561 p.D187 0.172 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA12 HGNC ENSG00000253159 tier1 - - 113 0 0.00 112 13 10.40 PDE5A 0 genome.wustl.edu 37 4 120473728 120473728 + Frame_Shift_Del DEL T T - TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 4 120473728 120473728 T - DEL PDE5A ENST00000354960 human ensembl 74_37 -1 known frame_shift_del c.1373 p.N458fs 1.000 pfam_GAF,smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE5A HGNC ENSG00000138735 tier1 24 0 0.00 29 2 6.45 PIFO 0 genome.wustl.edu 37 1 111891330 111891330 + RNA SNP T T C TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 1 111891330 111891330 T C SNP PIFO ENST00000484512 human ensembl 74_37 +1 known rna NULL NULL 0.104 - - - no_errors PIFO HGNC ENSG00000173947 tier1 - - 131 0 0.00 124 31 20.00 PKHD1 0 genome.wustl.edu 37 6 51524311 51524311 + Missense_Mutation SNP A A C TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 6 51524311 51524311 A C SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known missense c.10613 p.I3538S 0.967 NULL pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 tier1 - - 52 0 0.00 34 13 27.66 PLCG1 0 genome.wustl.edu 37 20 39792739 39792739 + Missense_Mutation SNP C C T TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 20 39792739 39792739 C T SNP PLCG1 ENST00000244007 human ensembl 74_37 +1 known missense c.1115 p.P372L 1.000 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pirsf_PLC-gamma,pfscan_PLipase_C_PInositol-sp_X_dom pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_Pleckstrin_homology,pfam_C2_dom,pfam_SH3_domain,pfam_SH3_2,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2 - no_errors PLCG1 HGNC ENSG00000124181 tier1 - - 45 0 0.00 46 7 13.21 PLSCR5 0 genome.wustl.edu 37 3 146307509 146307509 + Silent SNP G G A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 3 146307509 146307509 G A SNP PLSCR5 ENST00000443512 human ensembl 74_37 -1 known silent c.708 p.F236 1.000 pfam_Scramblase,superfamily_Tubby_C-like pfam_Scramblase,superfamily_Tubby_C-like - no_errors PLSCR5 HGNC ENSG00000231213 tier1 - - 82 0 0.00 83 16 16.16 PPEF2 0 genome.wustl.edu 37 4 76797507 76797507 + Missense_Mutation SNP C C A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 4 76797507 76797507 C A SNP PPEF2 ENST00000286719 human ensembl 74_37 -1 known missense c.1253 p.R418L 0.000 pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_PEstase_dom,pfam_PPP_dom,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_dom,prints_Ser/Thr-sp_prot-phosphatase,pfscan_EF_hand_dom - no_errors PPEF2 HGNC ENSG00000156194 tier1 - - 44 0 0.00 46 5 9.80 PRICKLE3 0 genome.wustl.edu 37 X 49040236 49040236 + Missense_Mutation SNP C C A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 X 49040236 49040236 C A SNP PRICKLE3 ENST00000376317 human ensembl 74_37 -1 known missense c.263 p.C88F 1.000 pfam_PET_domain pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE3 HGNC ENSG00000012211 tier1 - - 57 0 0.00 45 6 11.76 PSG8 0 genome.wustl.edu 37 19 43258532 43258532 + Nonsense_Mutation SNP G G T TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 19 43258532 43258532 G T SNP PSG8 ENST00000306511 human ensembl 74_37 -1 known nonsense c.1196 p.S399* 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG8 HGNC ENSG00000124467 tier1 - - 273 0 0.00 318 50 13.59 PTCHD3 0 genome.wustl.edu 37 10 27692276 27692276 + Missense_Mutation SNP T T C TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 10 27692276 27692276 T C SNP PTCHD3 ENST00000438700 human ensembl 74_37 -1 known missense c.1222 p.I408V 0.003 pfam_Patched,pfscan_SSD pfam_Patched,pfscan_SSD - no_errors PTCHD3 HGNC ENSG00000182077 tier1 - - 74 0 0.00 76 33 30.28 PTPN13 0 genome.wustl.edu 37 4 87622607 87622607 + Frame_Shift_Del DEL A A - TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 4 87622607 87622607 A - DEL PTPN13 ENST00000436978 human ensembl 74_37 +1 known frame_shift_del c.848 p.K285fs 0.941 pirsf_Tyr_Pase_non-rcpt_typ-13 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 tier1 36 0 0.00 29 2 6.45 RAD51D 0 genome.wustl.edu 37 17 33428244 33428244 + Silent SNP C C T TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 17 33428244 33428244 C T SNP RAD51D ENST00000590016 human ensembl 74_37 -1 known silent c.939 p.A313 0.000 superfamily_P-loop_NTPase pfam_DNA_recomb/repair_Rad51_C,pfam_Circ_KaiC/RadA,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_DNA_recomb_RecA/RadB_ATP-bd - no_errors RAD51D HGNC ENSG00000185379 tier1 - - 97 0 0.00 85 18 17.48 RCBTB1 0 genome.wustl.edu 37 13 50123687 50123687 + Missense_Mutation SNP C C T TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 13 50123687 50123687 C T SNP RCBTB1 ENST00000258646 human ensembl 74_37 -1 known missense c.952 p.V318M 0.920 NULL pfam_Reg_chr_condens,pfam_BTB_POZ,superfamily_RCC1/BLIP-II,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RCBTB1 HGNC ENSG00000136144 41 0 0.00 34 3 8.11 RPS6KA5 0 genome.wustl.edu 37 14 91341639 91341639 + Silent SNP C C T TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 14 91341639 91341639 C T SNP RPS6KA5 ENST00000261991 human ensembl 74_37 -1 known silent c.1902 p.A634 0.877 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Aminoglycoside_PTrfase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_AGC-kinase_C,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom - no_errors RPS6KA5 HGNC ENSG00000100784 76 0 0.00 68 4 5.56 RYR1 0 genome.wustl.edu 37 19 38985110 38985110 + Silent SNP G G T TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 19 38985110 38985110 G T SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known silent c.6393 p.L2131 0.804 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 tier1 - - 53 0 0.00 22 28 56.00 SCN1A 0 genome.wustl.edu 37 2 166908380 166908380 + Silent SNP G G T TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 2 166908380 166908380 G T SNP SCN1A ENST00000303395 human ensembl 74_37 -1 known silent c.813 p.G271 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 tier1 - - 101 0 0.00 107 18 14.40 SHROOM3 0 genome.wustl.edu 37 4 77675848 77675848 + Silent SNP G G A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 4 77675848 77675848 G A SNP SHROOM3 ENST00000296043 human ensembl 74_37 +1 known silent c.4212 p.E1404 0.000 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC ENSG00000138771 26 0 0.00 14 3 17.65 SIGLEC8 0 genome.wustl.edu 37 19 51958727 51958727 + Silent SNP G G A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 19 51958727 51958727 G A SNP SIGLEC8 ENST00000321424 human ensembl 74_37 -1 known silent c.996 p.N332 0.007 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC8 HGNC ENSG00000105366 tier1 - - 49 0 0.00 21 18 46.15 SLC12A5 0 genome.wustl.edu 37 20 44680471 44680471 + Missense_Mutation SNP G G A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 20 44680471 44680471 G A SNP SLC12A5 ENST00000454036 human ensembl 74_37 +1 known missense c.2408 p.R803H 0.998 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A5 HGNC ENSG00000124140 tier1 - - 99 0 0.00 90 19 17.27 SLC5A4 0 genome.wustl.edu 37 22 32633276 32633276 + Missense_Mutation SNP G G T TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 22 32633276 32633276 G T SNP SLC5A4 ENST00000266086 human ensembl 74_37 -1 known missense c.619 p.Q207K 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A4 HGNC ENSG00000100191 tier1 - - 20 0 0.00 15 4 21.05 SLITRK4 0 genome.wustl.edu 37 X 142718165 142718165 + Missense_Mutation SNP T T C TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 X 142718165 142718165 T C SNP SLITRK4 ENST00000338017 human ensembl 74_37 -1 known missense c.760 p.K254E 1.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK4 HGNC ENSG00000179542 tier1 - - 52 0 0.00 50 24 32.43 SMC1A 0 genome.wustl.edu 37 X 53436108 53436108 + Missense_Mutation SNP A A G TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 X 53436108 53436108 A G SNP SMC1A ENST00000322213 human ensembl 74_37 -1 known missense c.1430 p.L477P 1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase,superfamily_SMC_hinge,prints_Tropomyosin pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge,prints_Tropomyosin - no_errors SMC1A HGNC ENSG00000072501 tier1 - - 54 0 0.00 41 6 12.77 SNORD115-20 0 genome.wustl.edu 37 15 25451431 25451431 + RNA SNP A A G TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 15 25451431 25451431 A G SNP SNORD115-20 ENST00000365099 human ensembl 74_37 +1 known rna NULL NULL 0.008 - - - no_errors SNORD115-20 HGNC ENSG00000201969 tier1 - - 417 0 0.00 319 75 19.04 SOGA2 0 genome.wustl.edu 37 18 8825456 8825456 + Silent SNP G G A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 18 8825456 8825456 G A SNP SOGA2 ENST00000359865 human ensembl 74_37 +1 known silent c.3948 p.T1316 0.000 NULL pfam_SOGA - no_errors SOGA2 HGNC ENSG00000168502 30 0 0.00 30 3 9.09 SPTA1 0 genome.wustl.edu 37 1 158637785 158637785 + Missense_Mutation SNP T T G TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 1 158637785 158637785 T G SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.1901 p.K634T 0.979 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 tier1 - - 116 0 0.00 188 36 16.07 STIL 0 genome.wustl.edu 37 1 47746187 47746187 + Missense_Mutation SNP C C A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 1 47746187 47746187 C A SNP STIL ENST00000371877 human ensembl 74_37 -1 known missense c.1943 p.C648F 0.986 NULL NULL - no_errors STIL HGNC ENSG00000123473 tier1 - - 128 0 0.00 105 31 22.79 TBC1D24 0 genome.wustl.edu 37 16 2546294 2546294 + Missense_Mutation SNP G G A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 16 2546294 2546294 G A SNP TBC1D24 ENST00000293970 human ensembl 74_37 +1 known missense c.145 p.A49T 0.003 smart_Rab-GTPase-TBC_dom pfam_TLDc,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,smart_TLDc - no_errors TBC1D24 HGNC ENSG00000162065 tier1 - - 27 0 0.00 13 4 23.53 TECR 0 genome.wustl.edu 37 19 14675788 14675788 + Missense_Mutation SNP C C T TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 19 14675788 14675788 C T SNP TECR ENST00000436007 human ensembl 74_37 +1 known missense c.635 p.A212V 0.999 pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C - no_errors TECR HGNC ENSG00000099797 tier1 - - 89 0 0.00 38 28 41.79 TM4SF4 0 genome.wustl.edu 37 3 149216523 149216523 + Missense_Mutation SNP A A G TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 3 149216523 149216523 A G SNP TM4SF4 ENST00000305354 human ensembl 74_37 +1 known missense c.416 p.D139G 0.330 pfam_L6_membrane pfam_L6_membrane - no_errors TM4SF4 HGNC ENSG00000169903 tier1 - - 29 0 0.00 36 6 13.95 TNRC18 0 genome.wustl.edu 37 7 5363880 5363880 + Missense_Mutation SNP G G A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 7 5363880 5363880 G A SNP TNRC18 ENST00000399537 human ensembl 74_37 -1 known missense c.6407 p.P2136L 0.983 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 16 0 0.00 16 4 20.00 TNRC6A 0 genome.wustl.edu 37 16 24820702 24820702 + Missense_Mutation SNP T T A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 16 24820702 24820702 T A SNP TNRC6A ENST00000395799 human ensembl 74_37 +1 known missense c.4572 p.D1524E 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC ENSG00000090905 tier1 - - 74 0 0.00 117 18 13.33 TONSL 0 genome.wustl.edu 37 8 145667637 145667637 + Missense_Mutation SNP A A T TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 8 145667637 145667637 A T SNP TONSL ENST00000409379 human ensembl 74_37 -1 known missense c.737 p.V246E 0.002 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TONSL HGNC ENSG00000160949 tier1 - - 81 0 0.00 27 47 63.51 TP53 0 genome.wustl.edu 37 17 7576919 7576919 + Frame_Shift_Del DEL G G - TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 17 7576919 7576919 G - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_del c.927 p.N310fs 0.515 NULL pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 55 0 0.00 29 10 25.64 TSKS 0 genome.wustl.edu 37 19 50249945 50249945 + Silent SNP C C T TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 19 50249945 50249945 C T SNP TSKS ENST00000246801 human ensembl 74_37 -1 known silent c.774 p.P258 0.379 NULL NULL - no_errors TSKS HGNC ENSG00000126467 tier1 - - 15 0 0.00 5 16 76.19 TSPYL6 0 genome.wustl.edu 37 2 54483053 54483053 + Missense_Mutation SNP C C A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 2 54483053 54483053 C A SNP TSPYL6 ENST00000317802 human ensembl 74_37 -1 known missense c.236 p.R79L 0.000 NULL pfam_NAP_family - no_errors TSPYL6 HGNC ENSG00000178021 tier1 - - 51 0 0.00 41 4 8.89 TTC14 0 genome.wustl.edu 37 3 180326498 180326498 + Missense_Mutation SNP G G C TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 3 180326498 180326498 G C SNP TTC14 ENST00000296015 human ensembl 74_37 +1 known missense c.1300 p.E434Q 1.000 NULL pfam_TPR_1,superfamily_NA-bd_OB-fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors TTC14 HGNC ENSG00000163728 14 0 0.00 8 3 27.27 VDAC3 0 genome.wustl.edu 37 8 42260947 42260947 + Missense_Mutation SNP A A C TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 8 42260947 42260947 A C SNP VDAC3 ENST00000392935 human ensembl 74_37 +1 known missense c.673 p.K225Q 1.000 pfam_Porin_Euk/Tom40 pfam_Porin_Euk/Tom40,prints_Porin_Euk - no_errors VDAC3 HGNC ENSG00000078668 tier1 - - 79 0 0.00 101 20 16.53 VEGFC 0 genome.wustl.edu 37 4 177648956 177648956 + Silent SNP G G T TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 4 177648956 177648956 G T SNP VEGFC ENST00000280193 human ensembl 74_37 -1 known silent c.528 p.T176 1.000 pfam_PDGF/VEGF_dom,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom pfam_PDGF/VEGF_dom,pfam_CXCXC_repeat,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom - no_errors VEGFC HGNC ENSG00000150630 tier1 - - 68 0 0.00 35 13 27.08 VTN 0 genome.wustl.edu 37 17 26695569 26695569 + Missense_Mutation SNP C C T TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 17 26695569 26695569 C T SNP VTN ENST00000226218 human ensembl 74_37 -1 known missense c.952 p.E318K 0.000 superfamily_Hemopexin-like_dom pfam_Hemopexin-like_repeat,pfam_Somatomedin_B_dom,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors VTN HGNC ENSG00000109072 tier1 - - 81 0 0.00 75 12 13.79 WFDC13 0 genome.wustl.edu 37 20 44333226 44333226 + Missense_Mutation SNP C C T TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 20 44333226 44333226 C T SNP WFDC13 ENST00000305479 human ensembl 74_37 +1 known missense c.232 p.R78C 0.000 NULL NULL - no_errors WFDC13 HGNC ENSG00000168634 tier1 - - 72 0 0.00 115 11 8.59 WNT8A 0 genome.wustl.edu 37 5 137424732 137424732 + Missense_Mutation SNP C C T TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 5 137424732 137424732 C T SNP WNT8A ENST00000361560 human ensembl 74_37 +1 known missense c.484 p.L162F 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt8 - no_errors WNT8A HGNC ENSG00000061492 tier1 - - 119 0 0.00 90 25 21.74 XPC 0 genome.wustl.edu 37 3 14219966 14219968 + In_Frame_Del DEL CCT CCT - TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 3 14219966 14219968 CCT - DEL XPC ENST00000285021 human ensembl 74_37 -1 known in_frame_del c.103_101 p.E34in_frame_del 0.927:0.902:0.864 NULL pfam_Rad4/PNGase_transGLS-fold,pfam_Rad4_beta-hairpin_dom3,pfam_Rad4_beta-hairpin_dom2,pfam_Rad4_beta-hairpin_dom1,tigrfam_DNA_repair_Rad4_subgr - no_errors XPC HGNC ENSG00000154767 tier1 45 0 0.00 43 4 8.51 XPOT 0 genome.wustl.edu 37 12 64818479 64818479 + Missense_Mutation SNP G G A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 12 64818479 64818479 G A SNP XPOT ENST00000332707 human ensembl 74_37 +1 known missense c.1283 p.R428H 1.000 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors XPOT HGNC ENSG00000184575 tier1 rs149510717 - 128 0 0.00 180 21 10.45 XRRA1 0 genome.wustl.edu 37 11 74559383 74559383 + Missense_Mutation SNP G G A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 11 74559383 74559383 G A SNP XRRA1 ENST00000340360 human ensembl 74_37 -1 known missense c.1481 p.P494L 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors XRRA1 HGNC ENSG00000166435 tier1 - - 20 0 0.00 16 15 48.39 ZC3H13 0 genome.wustl.edu 37 13 46584404 46584404 + RNA SNP C C A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 13 46584404 46584404 C A SNP ZC3H13 ENST00000464597 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors ZC3H13 HGNC ENSG00000123200 tier1 - - 18 0 0.00 22 8 26.67 ZEB1 0 genome.wustl.edu 37 10 31809058 31809058 + Silent SNP G G A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 10 31809058 31809058 G A SNP ZEB1 ENST00000361642 human ensembl 74_37 +1 known silent c.798 p.E266 1.000 pfscan_Znf_C2H2 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB1 HGNC ENSG00000148516 tier1 - - 69 0 0.00 39 17 30.36 ZFYVE26 0 genome.wustl.edu 37 14 68220434 68220434 + Missense_Mutation SNP C C G TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 14 68220434 68220434 C G SNP ZFYVE26 ENST00000347230 human ensembl 74_37 -1 known missense c.7178 p.R2393P 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE26 HGNC ENSG00000072121 tier1 - - 98 0 0.00 89 26 22.61 ZNF106 0 genome.wustl.edu 37 15 42743573 42743573 + Silent SNP G G A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 15 42743573 42743573 G A SNP ZNF106 ENST00000263805 human ensembl 74_37 -1 known silent c.828 p.D276 0.990 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ZNF106 HGNC ENSG00000103994 tier1 - - 115 0 0.00 114 37 24.34 ZNF446 0 genome.wustl.edu 37 19 58988619 58988619 + Missense_Mutation SNP G G A TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 19 58988619 58988619 G A SNP ZNF446 ENST00000594369 human ensembl 74_37 +1 known missense c.34 p.V12I 0.002 NULL pfam_Tscrpt_reg_SCAN,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_Tscrpt_reg_SCAN - no_errors ZNF446 HGNC ENSG00000083838 tier1 - - 164 0 0.00 126 22 14.77 ZNF468 0 genome.wustl.edu 37 19 53344668 53344668 + Silent SNP A A G TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 19 53344668 53344668 A G SNP ZNF468 ENST00000595646 human ensembl 74_37 -1 known silent c.879 p.H293 0.999 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 ZNF468 HGNC ENSG00000204604 tier1 - - 153 0 0.00 185 31 14.35 ZNF536 0 genome.wustl.edu 37 19 31040060 31040060 + Silent SNP C C T TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 19 31040060 31040060 C T SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known silent c.3534 p.N1178 0.952 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 tier1 - - 48 0 0.00 52 11 17.46 ZNF592 0 genome.wustl.edu 37 15 85326612 85326612 + Nonsense_Mutation SNP C C T TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 15 85326612 85326612 C T SNP ZNF592 ENST00000299927 human ensembl 74_37 +1 known nonsense c.706 p.R236* 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF592 HGNC ENSG00000166716 tier1 - - 90 0 0.00 70 15 17.24 ZRANB2 0 genome.wustl.edu 37 1 71531511 71531511 + RNA SNP A A C TCGA-RD-A8N9-01A-12D-A397-08 TCGA-RD-A8N9-10A-01D-A39A-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 893d5284-e96a-4c0f-8bb3-497947f123a1 4b5b8556-e166-4251-a2b9-5b20a318d0e6 1 71531511 71531511 A C SNP ZRANB2 ENST00000477096 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ZRANB2 HGNC ENSG00000132485 tier1 - - 34 0 0.00 28 8 22.22