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 AOAH 0 genome.wustl.edu 37 7 36713561 36713561 + Missense_Mutation SNP C C A TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 7 36713561 36713561 C A SNP AOAH ENST00000258749 human ensembl 74_37 -1 known missense c.277 p.D93Y 1.000 pfam_SapB_2,superfamily_Saposin-like,smart_SaposinB,pfscan_SaposinB pfam_Lipase_GDSL,pfam_SapB_2,superfamily_Saposin-like,smart_SaposinB,pfscan_SaposinB - no_errors AOAH HGNC ENSG00000136250 tier1 - - 33 0 0.00 23 10 30.30 ARHGAP24 0 genome.wustl.edu 37 4 86916560 86916560 + Missense_Mutation SNP G G T TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 4 86916560 86916560 G T SNP ARHGAP24 ENST00000395184 human ensembl 74_37 +1 known missense c.1753 p.G585W 0.945 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP24 HGNC ENSG00000138639 tier1 - - 72 0 0.00 50 36 41.86 ATP6V1H 0 genome.wustl.edu 37 8 54745597 54745597 + Missense_Mutation SNP T T C TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 8 54745597 54745597 T C SNP ATP6V1H ENST00000359530 human ensembl 74_37 -1 known missense c.163 p.M55V 0.991 pfam_ATPase_V1-cplx_hsu,superfamily_ARM-type_fold,pirsf_ATPase_V1-cplx_hsu pfam_ATPase_V1-cplx_hsu,pfam_ATPase_V1-cplx_hsu_C,superfamily_ARM-type_fold,pirsf_ATPase_V1-cplx_hsu - no_errors ATP6V1H HGNC ENSG00000047249 tier1 - - 212 0 0.00 187 45 19.40 ATP7A 0 genome.wustl.edu 37 X 77243898 77243898 + Missense_Mutation SNP C C T TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e X 77243898 77243898 C T SNP ATP7A ENST00000341514 human ensembl 74_37 +1 known missense c.281 p.A94V 0.120 superfamily_HeavyMe-assoc_HMA pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,prints_HG_scavenger,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd - no_errors ATP7A HGNC ENSG00000165240 tier1 - - 227 0 0.00 174 84 32.56 AVIL 0 genome.wustl.edu 37 12 58203433 58203433 + Missense_Mutation SNP T T C TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 12 58203433 58203433 T C SNP AVIL ENST00000257861 human ensembl 74_37 -1 known missense c.886 p.K296E 1.000 pfam_Gelsolin_dom,smart_Villin/Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors AVIL HGNC ENSG00000135407 tier1 - - 117 0 0.00 56 11 16.42 B3GALTL 0 genome.wustl.edu 37 13 31903755 31903755 + Missense_Mutation SNP G G A TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 13 31903755 31903755 G A SNP B3GALTL ENST00000343307 human ensembl 74_37 +1 known missense c.1447 p.E483K 0.011 NULL pfam_Fringe-like - no_errors B3GALTL HGNC ENSG00000187676 tier1 - - 60 0 0.00 44 9 16.98 BCLAF1 0 genome.wustl.edu 37 6 136599142 136599142 + Missense_Mutation SNP G G T TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 6 136599142 136599142 G T SNP BCLAF1 ENST00000531224 human ensembl 74_37 -1 known missense c.877 p.H293N 1.000 NULL NULL - no_errors BCLAF1 HGNC ENSG00000029363 tier1 - - 80 0 0.00 77 13 14.44 CACHD1 0 genome.wustl.edu 37 1 65147712 65147712 + Missense_Mutation SNP C C T TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 1 65147712 65147712 C T SNP CACHD1 ENST00000371073 human ensembl 74_37 +1 known missense c.3509 p.A1170V 1.000 NULL pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A - no_errors CACHD1 HGNC ENSG00000158966 tier1 - - 58 0 0.00 29 18 37.50 CARD11 0 genome.wustl.edu 37 7 2984021 2984021 + Missense_Mutation SNP C C T TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 7 2984021 2984021 C T SNP CARD11 ENST00000396946 human ensembl 74_37 -1 known missense c.509 p.R170H 0.975 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 tier1 - - 87 0 0.00 58 34 36.96 CCDC127 0 genome.wustl.edu 37 5 205697 205697 + Silent SNP G G T TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 5 205697 205697 G T SNP CCDC127 ENST00000296824 human ensembl 74_37 -1 known silent c.498 p.L166 0.000 NULL NULL - no_errors CCDC127 HGNC ENSG00000164366 tier1 - - 67 0 0.00 51 16 23.88 CCKBR 0 genome.wustl.edu 37 11 6290930 6290930 + Silent SNP C C T TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 11 6290930 6290930 C T SNP CCKBR ENST00000525462 human ensembl 74_37 +1 known silent c.183 p.Y61 0.738 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors CCKBR HGNC ENSG00000110148 tier1 - - 52 0 0.00 43 18 29.51 CCNF 0 genome.wustl.edu 37 16 2506773 2506773 + Missense_Mutation SNP G G A TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 16 2506773 2506773 G A SNP CCNF ENST00000397066 human ensembl 74_37 +1 known missense c.2113 p.V705I 0.031 NULL pfam_Cyclin_N,pfam_Cyclin_C-dom,pfam_F-box_dom,superfamily_Cyclin-like,superfamily_F-box_dom,smart_F-box_dom,smart_Cyclin-like,pfscan_F-box_dom - no_errors CCNF HGNC ENSG00000162063 tier1 rs142923904 - 38 0 0.00 14 17 54.84 CDADC1 0 genome.wustl.edu 37 13 49852631 49852631 + Missense_Mutation SNP C C T TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 13 49852631 49852631 C T SNP CDADC1 ENST00000251108 human ensembl 74_37 +1 known missense c.1196 p.A399V 0.999 pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like - no_errors CDADC1 HGNC ENSG00000102543 tier1 - - 115 0 0.00 58 60 50.42 CDH7 0 genome.wustl.edu 37 18 63527038 63527038 + Missense_Mutation SNP A A G TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 18 63527038 63527038 A G SNP CDH7 ENST00000323011 human ensembl 74_37 +1 known missense c.1589 p.N530S 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH7 HGNC ENSG00000081138 tier1 - - 50 0 0.00 20 15 40.54 CHERP 0 genome.wustl.edu 37 19 16640581 16640583 + In_Frame_Del DEL TGC TGC - TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 TGC TGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 19 16640581 16640583 TGC - DEL CHERP ENST00000546361 human ensembl 74_37 -1 known in_frame_del c.1007_1005 p.Q339in_frame_del 1.000:1.000:1.000 NULL pfam_Surp,pfam_G_patch_dom,pfam_RNA_pol_II-bd,superfamily_Surp,superfamily_ENTH_VHS,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors CHERP HGNC ENSG00000085872 tier1 28 0 0.00 26 3 10.34 CNTRL 0 genome.wustl.edu 37 9 123900945 123900945 + Silent SNP T T C TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 9 123900945 123900945 T C SNP CNTRL ENST00000238341 human ensembl 74_37 +1 known silent c.2325 p.L775 0.079 superfamily_Prefoldin pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC ENSG00000119397 tier1 - - 60 0 0.00 54 37 40.66 COCH 0 genome.wustl.edu 37 14 31354625 31354625 + Missense_Mutation SNP G G T TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 14 31354625 31354625 G T SNP COCH ENST00000216361 human ensembl 74_37 +1 known missense c.759 p.Q253H 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A - no_errors COCH HGNC ENSG00000100473 tier1 - - 54 0 0.00 41 11 21.15 CREB3L1 0 genome.wustl.edu 37 11 46321549 46321549 + Missense_Mutation SNP A A G TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 11 46321549 46321549 A G SNP CREB3L1 ENST00000288400 human ensembl 74_37 +1 known missense c.166 p.S56G 1.000 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_CREB - no_errors CREB3L1 HGNC ENSG00000157613 26 0 0.00 16 3 15.79 CTAG2 0 genome.wustl.edu 37 X 153880703 153880703 + Missense_Mutation SNP C C T TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e X 153880703 153880703 C T SNP CTAG2 ENST00000247306 human ensembl 74_37 -1 putative missense c.472 p.A158T 0.000 NULL pfam_EKC/KEOPS_Pcc1 - no_errors CTAG2 HGNC ENSG00000126890 tier1 - - 49 0 0.00 36 19 33.93 CYB5R2 0 genome.wustl.edu 37 11 7690517 7690517 + Missense_Mutation SNP T T C TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 11 7690517 7690517 T C SNP CYB5R2 ENST00000299498 human ensembl 74_37 -1 known missense c.307 p.T103A 1.000 pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl pfam_OxRdtase_FAD-bd_dom,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase - no_errors CYB5R2 HGNC ENSG00000166394 tier1 - - 66 0 0.00 33 28 45.90 DOCK3 0 genome.wustl.edu 37 3 51370661 51370661 + Silent SNP C C T TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 3 51370661 51370661 C T SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known silent c.3588 p.L1196 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 tier1 - - 129 0 0.00 76 34 30.91 FABP6 0 genome.wustl.edu 37 5 159640782 159640782 + Missense_Mutation SNP C C T TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 5 159640782 159640782 C T SNP FABP6 ENST00000393980 human ensembl 74_37 +1 known missense c.91 p.R31W 0.413 NULL superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors FABP6 HGNC ENSG00000170231 tier1 - - 43 0 0.00 28 12 30.00 FAM129B 0 genome.wustl.edu 37 9 130272485 130272485 + Silent SNP C C T TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 9 130272485 130272485 C T SNP FAM129B ENST00000373312 human ensembl 74_37 -1 known silent c.1101 p.K367 1.000 NULL pfscan_Pleckstrin_homology - no_errors FAM129B HGNC ENSG00000136830 tier1 - - 81 0 0.00 69 9 11.54 FAM155B 0 genome.wustl.edu 37 X 68725671 68725672 + Frame_Shift_Ins INS - - A TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e X 68725671 68725672 - A INS FAM155B ENST00000252338 human ensembl 74_37 +1 known frame_shift_ins c.546_547 p.N184fs 1.000:0.996 NULL NULL - no_errors FAM155B HGNC ENSG00000130054 tier1 27 0 0.00 19 3 13.64 FAT4 0 genome.wustl.edu 37 4 126397344 126397344 + Missense_Mutation SNP G G A TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 4 126397344 126397344 G A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.12226 p.D4076N 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 tier1 - - 146 0 0.00 104 74 41.57 FGF9 0 genome.wustl.edu 37 13 22255231 22255231 + Missense_Mutation SNP G G A TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 13 22255231 22255231 G A SNP FGF9 ENST00000382353 human ensembl 74_37 +1 known missense c.328 p.V110M 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF9 HGNC ENSG00000102678 tier1 - - 11 0 0.00 13 9 40.91 FTMT 0 genome.wustl.edu 37 5 121188337 121188337 + Missense_Mutation SNP G G A TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 5 121188337 121188337 G A SNP FTMT ENST00000321339 human ensembl 74_37 +1 known missense c.679 p.E227K 0.998 superfamily_Ferritin-like_SF pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron - no_errors FTMT HGNC ENSG00000181867 tier1 - - 108 0 0.00 97 20 17.09 GJB7 0 genome.wustl.edu 37 6 87993987 87993987 + Nonsense_Mutation SNP A A T TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 6 87993987 87993987 A T SNP GJB7 ENST00000296882 human ensembl 74_37 -1 known nonsense c.644 p.L215* 0.000 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJB7 HGNC ENSG00000164411 tier1 - - 66 0 0.00 46 16 25.81 GNLY 0 genome.wustl.edu 37 2 85924683 85924683 + Missense_Mutation SNP C C T TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 2 85924683 85924683 C T SNP GNLY ENST00000263863 human ensembl 74_37 +1 known missense c.310 p.R104C 0.000 pfam_SapB_2,superfamily_Saposin-like,smart_SaposinB,pfscan_SaposinB pfam_SapB_2,superfamily_Saposin-like,smart_SaposinB,pfscan_SaposinB - no_errors GNLY HGNC ENSG00000115523 tier1 - - 48 0 0.00 42 16 27.59 GOLGA8I 0 genome.wustl.edu 37 15 23261866 23261866 + Silent SNP C C A TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 15 23261866 23261866 C A SNP GOLGA8I ENST00000450802 human ensembl 74_37 +1 known silent c.978 p.V326 0.972 NULL NULL - no_errors GOLGA8I HGNC ENSG00000153666 tier1 - - 63 0 0.00 65 11 14.47 GPR18 0 genome.wustl.edu 37 13 99907713 99907713 + Silent SNP G G A TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 13 99907713 99907713 G A SNP GPR18 ENST00000340807 human ensembl 74_37 -1 known silent c.414 p.A138 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR18 HGNC ENSG00000125245 tier1 - - 59 0 0.00 44 7 13.73 GPRASP1 0 genome.wustl.edu 37 X 101909790 101909790 + Missense_Mutation SNP T T G TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e X 101909790 101909790 T G SNP GPRASP1 ENST00000361600 human ensembl 74_37 +1 known missense c.949 p.F317V 0.160 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP1 HGNC ENSG00000198932 tier1 - - 90 0 0.00 15 80 84.21 HGS 0 genome.wustl.edu 37 17 79662908 79662908 + Silent SNP G G A TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 17 79662908 79662908 G A SNP HGS ENST00000329138 human ensembl 74_37 +1 known silent c.1272 p.K424 1.000 pfam_HRS_helical,pirsf_Ubi-bd_Hrs_VPS27 pfam_VHS,pfam_HRS_helical,pfam_Znf_FYVE,superfamily_ENTH_VHS,superfamily_Znf_FYVE_PHD,smart_VHS_subgr,smart_Znf_FYVE,pirsf_Ubi-bd_Hrs_VPS27,pfscan_Ubiquitin-int_motif,pfscan_VHS,pfscan_Znf_FYVE-rel - no_errors HGS HGNC ENSG00000185359 tier1 - - 39 0 0.00 28 15 34.88 HNRNPUL2 0 genome.wustl.edu 37 11 62491803 62491803 + Nonsense_Mutation SNP G G A TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 11 62491803 62491803 G A SNP HNRNPUL2 ENST00000301785 human ensembl 74_37 -1 known nonsense c.634 p.R212* 1.000 superfamily_ConA-like_lec_gl_sf pfam_SPRY_rcpt,pfam_SAP_dom,pfam_Zeta_toxin_domain,pfam_Chromatin_KTI12,superfamily_ConA-like_lec_gl_sf,superfamily_P-loop_NTPase,smart_SAP_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_dom - no_errors HNRNPUL2 HGNC ENSG00000214753 tier1 - - 110 0 0.00 81 21 20.59 HPX 0 genome.wustl.edu 37 11 6458345 6458345 + Missense_Mutation SNP G G A TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 11 6458345 6458345 G A SNP HPX ENST00000265983 human ensembl 74_37 -1 known missense c.766 p.R256C 0.632 superfamily_Hemopexin-like_dom,pirsf_Hemopexin_chordata pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat,pirsf_Hemopexin_chordata - no_errors HPX HGNC ENSG00000110169 tier1 - - 33 0 0.00 18 15 45.45 HYDIN 0 genome.wustl.edu 37 16 70863531 70863531 + Missense_Mutation SNP C C T TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 16 70863531 70863531 C T SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative missense c.14102 p.R4701H 0.992 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 tier1 - - 21 0 0.00 13 5 27.78 KALRN 0 genome.wustl.edu 37 3 124438079 124438079 + Missense_Mutation SNP G G A TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 3 124438079 124438079 G A SNP KALRN ENST00000360013 human ensembl 74_37 +1 known missense c.8723 p.S2908N 1.000 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,pfscan_Prot_kinase_dom pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 tier1 - - 57 0 0.00 25 37 59.68 KCND2 0 genome.wustl.edu 37 7 119915481 119915481 + Silent SNP C C T TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 7 119915481 119915481 C T SNP KCND2 ENST00000331113 human ensembl 74_37 +1 known silent c.795 p.I265 0.956 pfam_Ion_trans_dom,prints_K_chnl pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCND2 HGNC ENSG00000184408 tier1 - - 51 0 0.00 44 14 24.14 KIAA1024 0 genome.wustl.edu 37 15 79760594 79760594 + Silent SNP C C T TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 15 79760594 79760594 C T SNP KIAA1024 ENST00000305428 human ensembl 74_37 +1 known silent c.2619 p.Y873 0.996 pfam_UPF0258 pfam_UPF0258 - no_errors KIAA1024 HGNC ENSG00000169330 tier1 - - 44 0 0.00 27 8 22.86 KIAA1522 0 genome.wustl.edu 37 1 33236678 33236679 + Frame_Shift_Del DEL TA TA - TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 1 33236678 33236679 TA - DEL KIAA1522 ENST00000401073 human ensembl 74_37 +1 known frame_shift_del c.1898_1899 p.C634fs 0.257:0.244 NULL NULL - no_errors KIAA1522 HGNC ENSG00000162522 tier1 55 0 0.00 24 25 51.02 KIF26B 0 genome.wustl.edu 37 1 245851229 245851231 + In_Frame_Del DEL CAG CAG - TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 1 245851229 245851231 CAG - DEL KIF26B ENST00000407071 human ensembl 74_37 +1 known in_frame_del c.4944_4946 p.S1652in_frame_del 0.206:0.210:0.240 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 tier1 10 0 0.00 12 2 14.29 KLHL25 0 genome.wustl.edu 37 15 86311422 86311422 + Silent SNP G G A TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 15 86311422 86311422 G A SNP KLHL25 ENST00000337975 human ensembl 74_37 -1 known silent c.1620 p.L540 0.992 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL25 HGNC ENSG00000183655 tier1 - - 72 0 0.00 63 11 14.86 KPNA6 0 genome.wustl.edu 37 1 32573735 32573735 + Missense_Mutation SNP G G C TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 1 32573735 32573735 G C SNP KPNA6 ENST00000373625 human ensembl 74_37 +1 known missense c.4 p.E2Q 1.000 pfscan_Importin-a_IBB pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA6 HGNC ENSG00000025800 tier1 - - 105 0 0.00 55 17 23.29 KRAS 0 genome.wustl.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 12 25398284 25398284 C A SNP KRAS ENST00000256078 human ensembl 74_37 -1 known missense c.35 p.G12V 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors KRAS HGNC ENSG00000133703 tier1 rs121913529 - 73 0 0.00 47 20 29.85 LHX3 0 genome.wustl.edu 37 9 139091542 139091542 + Missense_Mutation SNP C C T TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 9 139091542 139091542 C T SNP LHX3 ENST00000371746 human ensembl 74_37 -1 known missense c.451 p.E151K 1.000 pfam_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX3 HGNC ENSG00000107187 tier1 - - 57 0 0.00 58 15 20.55 LOC220729 0 genome.wustl.edu 37 3 197349143 197349143 + RNA SNP T T C TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 3 197349143 197349143 T C SNP LOC220729 ENST00000414207 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors AC024560.3 Clone_based_vega_gene ENSG00000214135 tier1 rs202141824 - 25 0 0.00 21 5 19.23 LRRC18 0 genome.wustl.edu 37 10 50121980 50121980 + Missense_Mutation SNP T T C TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 10 50121980 50121980 T C SNP LRRC18 ENST00000374160 human ensembl 74_37 -1 known missense c.221 p.N74S 0.995 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC18 HGNC ENSG00000165383 tier1 - - 60 0 0.00 9 27 75.00 LRTM1 0 genome.wustl.edu 37 3 54952554 54952554 + Missense_Mutation SNP G G T TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 3 54952554 54952554 G T SNP LRTM1 ENST00000273286 human ensembl 74_37 -1 known missense c.970 p.P324T 0.001 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRTM1 HGNC ENSG00000144771 tier1 - - 143 0 0.00 121 43 26.22 MAGIX 0 genome.wustl.edu 37 X 49021421 49021421 + Missense_Mutation SNP G G A TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e X 49021421 49021421 G A SNP MAGIX ENST00000412696 human ensembl 74_37 +1 known missense c.500 p.R167H 0.132 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors MAGIX HGNC ENSG00000017621 tier1 - - 21 0 0.00 20 8 28.57 MAP2 0 genome.wustl.edu 37 2 210560819 210560819 + Missense_Mutation SNP G G A TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 2 210560819 210560819 G A SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known missense c.3925 p.V1309M 1.000 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 tier1 - - 77 0 0.00 69 16 18.82 MCM10 0 genome.wustl.edu 37 10 13217565 13217565 + Silent SNP G G T TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 10 13217565 13217565 G T SNP MCM10 ENST00000484800 human ensembl 74_37 +1 known silent c.651 p.T217 0.000 NULL pfam_Rep_factor_Mcm10,pfam_Znf_Mcm10/DnaG - no_errors MCM10 HGNC ENSG00000065328 tier1 - - 98 0 0.00 15 55 78.57 MLIP 0 genome.wustl.edu 37 6 53989365 53989365 + Missense_Mutation SNP T T C TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 6 53989365 53989365 T C SNP MLIP ENST00000274897 human ensembl 74_37 +1 known missense c.314 p.I105T 0.006 NULL NULL - no_errors MLIP HGNC ENSG00000146147 tier1 - - 54 0 0.00 70 11 13.58 MOGAT2 0 genome.wustl.edu 37 11 75429008 75429010 + In_Frame_Del DEL CTC CTC - TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 11 75429008 75429010 CTC - DEL MOGAT2 ENST00000198801 human ensembl 74_37 +1 known in_frame_del c.75_77 p.S26in_frame_del 0.996:0.826:0.679 NULL pfam_DAGAT - no_errors MOGAT2 HGNC ENSG00000166391 tier1 54 0 0.00 26 8 23.53 MUC6 0 genome.wustl.edu 37 11 1016374 1016377 + Frame_Shift_Del DEL AAGA AAGA - TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 AAGA AAGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 11 1016374 1016377 AAGA - DEL MUC6 ENST00000421673 human ensembl 74_37 -1 known frame_shift_del c.6427_6424 p.S2142fs 0.000:0.000:0.002:0.002 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 tier1 26 0 0.00 22 11 33.33 MYH9 0 genome.wustl.edu 37 22 36684790 36684790 + Missense_Mutation SNP T T G TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 22 36684790 36684790 T G SNP MYH9 ENST00000216181 human ensembl 74_37 -1 known missense c.4753 p.K1585Q 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 tier1 rs149169068 - 165 0 0.00 25 54 66.67 NALCN-AS1 0 genome.wustl.edu 37 13 101710438 101710438 + RNA SNP G G A TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 13 101710438 101710438 G A SNP NALCN-AS1 ENST00000457843 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NALCN-AS1 HGNC ENSG00000233009 41 0 0.00 30 4 11.76 NDFIP1 0 genome.wustl.edu 37 5 141511421 141511421 + Missense_Mutation SNP G G T TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 5 141511421 141511421 G T SNP NDFIP1 ENST00000253814 human ensembl 74_37 +1 known missense c.112 p.A38S 1.000 NULL pfam_NEDD4/BSD2 - no_errors NDFIP1 HGNC ENSG00000131507 tier1 - - 164 0 0.00 85 56 39.72 OBFC1 0 genome.wustl.edu 37 10 105659870 105659870 + Missense_Mutation SNP C C T TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 10 105659870 105659870 C T SNP OBFC1 ENST00000224950 human ensembl 74_37 -1 known missense c.407 p.G136D 0.989 pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pirsf_CST_STN1 pfam_CST_STN1_C,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pirsf_CST_STN1 - no_errors OBFC1 HGNC ENSG00000107960 tier1 - - 114 0 0.00 56 30 34.88 OPRM1 0 genome.wustl.edu 37 6 154360838 154360838 + Silent SNP C C T TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 6 154360838 154360838 C T SNP OPRM1 ENST00000434900 human ensembl 74_37 +1 known silent c.438 p.G146 0.791 prints_Mu_opioid_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mu_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt - no_errors OPRM1 HGNC ENSG00000112038 tier1 - - 38 0 0.00 27 10 27.03 OR13C4 0 genome.wustl.edu 37 9 107288928 107288928 + Missense_Mutation SNP G G A TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 9 107288928 107288928 G A SNP OR13C4 ENST00000277216 human ensembl 74_37 -1 known missense c.563 p.A188V 0.142 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 OR13C4 HGNC ENSG00000148136 tier1 - - 71 0 0.00 77 12 13.48 OR2T5 0 genome.wustl.edu 37 1 248651905 248651905 + Missense_Mutation SNP A A T TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 1 248651905 248651905 A T SNP OR2T5 ENST00000366473 human ensembl 74_37 +1 known missense c.16 p.R6W 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T5 HGNC ENSG00000203661 tier1 rs199833498 - 12 0 0.00 7 7 50.00 OR4C15 0 genome.wustl.edu 37 11 55322504 55322504 + Missense_Mutation SNP C C A TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 11 55322504 55322504 C A SNP OR4C15 ENST00000314644 human ensembl 74_37 +1 known missense c.722 p.A241D 0.998 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 OR4C15 HGNC ENSG00000181939 tier1 - - 21 0 0.00 16 8 33.33 OR7E24 0 genome.wustl.edu 37 19 9361867 9361867 + Silent SNP C C T TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 19 9361867 9361867 C T SNP OR7E24 ENST00000456448 human ensembl 74_37 +1 known silent c.148 p.L50 0.001 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7E24 HGNC ENSG00000237521 tier1 - - 58 0 0.00 14 40 74.07 PAM 0 genome.wustl.edu 37 5 102309945 102309945 + Missense_Mutation SNP G G T TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 5 102309945 102309945 G T SNP PAM ENST00000304400 human ensembl 74_37 +1 known missense c.1288 p.V430F 1.000 NULL pfam_NHL_repeat,pfam_Cu2_ascorb_mOase_N,superfamily_PHM/PNGase_F_dom,pfscan_NHL_repeat_subgr,prints_Pep_amidat_mOase - no_errors PAM HGNC ENSG00000145730 tier1 - - 78 0 0.00 80 13 13.98 PCTP 0 genome.wustl.edu 37 17 53851152 53851152 + Frame_Shift_Del DEL G G - TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 17 53851152 53851152 G - DEL PCTP ENST00000268896 human ensembl 74_37 +1 known frame_shift_del c.407 p.S137fs 0.996 pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom - no_errors PCTP HGNC ENSG00000141179 tier1 26 0 0.00 25 2 7.41 PLD1 0 genome.wustl.edu 37 3 171427373 171427373 + Silent SNP G G A TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 3 171427373 171427373 G A SNP PLD1 ENST00000351298 human ensembl 74_37 -1 known silent c.1038 p.I346 0.994 pirsf_PLipase_D_euk pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD1 HGNC ENSG00000075651 tier1 - - 87 0 0.00 46 19 29.23 PLEKHG4B 0 genome.wustl.edu 37 5 169623 169623 + Silent SNP C C T TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 5 169623 169623 C T SNP PLEKHG4B ENST00000283426 human ensembl 74_37 +1 known silent c.2577 p.H859 0.020 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4B HGNC ENSG00000153404 tier1 - - 97 0 0.00 74 35 32.11 POSTN 0 genome.wustl.edu 37 13 38145443 38145443 + RNA SNP C C A TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 13 38145443 38145443 C A SNP POSTN ENST00000497145 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors POSTN HGNC ENSG00000133110 tier1 - - 42 0 0.00 31 25 44.64 POSTN 0 genome.wustl.edu 37 13 38145444 38145444 + RNA SNP C C A TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 13 38145444 38145444 C A SNP POSTN ENST00000497145 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors POSTN HGNC ENSG00000133110 tier1 - - 45 0 0.00 31 25 44.64 PRDM8 0 genome.wustl.edu 37 4 81123252 81123252 + Missense_Mutation SNP G G C TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 4 81123252 81123252 G C SNP PRDM8 ENST00000339711 human ensembl 74_37 +1 known missense c.636 p.Q212H 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PRDM8 HGNC ENSG00000152784 58 0 0.00 46 3 6.12 PRLR 0 genome.wustl.edu 37 5 35084585 35084585 + Silent SNP G G A TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 5 35084585 35084585 G A SNP PRLR ENST00000382002 human ensembl 74_37 -1 known silent c.360 p.D120 0.998 pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Growth/epo_recpt_lig-bind,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors PRLR HGNC ENSG00000113494 tier1 - - 155 0 0.00 108 75 40.98 PRR12 0 genome.wustl.edu 37 19 50128134 50128134 + Nonsense_Mutation SNP G G T TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 19 50128134 50128134 G T SNP PRR12 ENST00000418929 human ensembl 74_37 +1 novel nonsense c.5755 p.E1919* 1.000 NULL NULL - no_errors PRR12 HGNC ENSG00000126464 tier1 - - 52 0 0.00 61 11 15.28 PTPRJ 0 genome.wustl.edu 37 11 48166372 48166372 + Silent SNP C C T TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 11 48166372 48166372 C T SNP PTPRJ ENST00000418331 human ensembl 74_37 +1 known silent c.2721 p.D907 0.000 smart_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRJ HGNC ENSG00000149177 tier1 - - 119 0 0.00 120 41 25.47 RTN4IP1 0 genome.wustl.edu 37 6 107076789 107076789 + Silent SNP G G T TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 6 107076789 107076789 G T SNP RTN4IP1 ENST00000369063 human ensembl 74_37 -1 known silent c.108 p.T36 0.237 NULL pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors RTN4IP1 HGNC ENSG00000130347 tier1 - - 101 0 0.00 73 21 22.11 SEMA3A 0 genome.wustl.edu 37 7 83643593 83643593 + Missense_Mutation SNP G G T TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 7 83643593 83643593 G T SNP SEMA3A ENST00000265362 human ensembl 74_37 -1 known missense c.742 p.R248S 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3A HGNC ENSG00000075213 tier1 - - 98 0 0.00 105 22 17.32 SGPP2 0 genome.wustl.edu 37 2 223423347 223423347 + Missense_Mutation SNP T T G TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 2 223423347 223423347 T G SNP SGPP2 ENST00000321276 human ensembl 74_37 +1 known missense c.930 p.I310M 0.015 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors SGPP2 HGNC ENSG00000163082 tier1 - - 39 0 0.00 28 16 36.36 STK11 0 genome.wustl.edu 37 19 1207203 1207203 + Splice_Site SNP G G C TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 19 1207203 1207203 G C SNP STK11 ENST00000326873 human ensembl 74_37 +1 known splice_site c.290+1 e1+1 1.000 - - - no_errors STK11 HGNC ENSG00000118046 tier1 - - 12 0 0.00 1 4 80.00 STXBP5L 0 genome.wustl.edu 37 3 121097589 121097589 + Missense_Mutation SNP C C T TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 3 121097589 121097589 C T SNP STXBP5L ENST00000273666 human ensembl 74_37 +1 known missense c.2275 p.P759S 1.000 NULL pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5L HGNC ENSG00000145087 tier1 - - 45 0 0.00 51 18 26.09 TAF1L 0 genome.wustl.edu 37 9 32630702 32630702 + Missense_Mutation SNP A A T TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 9 32630702 32630702 A T SNP TAF1L ENST00000242310 human ensembl 74_37 -1 known missense c.4876 p.Y1626N 1.000 pirsf_TAF1_animal,superfamily_Bromodomain,smart_Bromodomain pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 tier1 - - 134 0 0.00 19 21 52.50 TCOF1 0 genome.wustl.edu 37 5 149748319 149748319 + Missense_Mutation SNP C C T TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 5 149748319 149748319 C T SNP TCOF1 ENST00000451292 human ensembl 74_37 +1 known missense c.419 p.P140L 0.013 NULL pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS - no_errors TCOF1 HGNC ENSG00000070814 tier1 - - 31 0 0.00 20 25 55.56 TDGF1P3 0 genome.wustl.edu 37 X 109764857 109764857 + RNA SNP C C A TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e X 109764857 109764857 C A SNP TDGF1P3 ENST00000602699 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors TDGF1P3 HGNC ENSG00000225366 tier1 - - 25 0 0.00 20 17 45.95 TEX11 0 genome.wustl.edu 37 X 70080718 70080718 + Nonsense_Mutation SNP G G A TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e X 70080718 70080718 G A SNP TEX11 ENST00000344304 human ensembl 74_37 -1 known nonsense c.358 p.R120* 0.812 NULL pfam_Meiosis_specific_SPO22,smart_TPR_repeat - no_errors TEX11 HGNC ENSG00000120498 tier1 - - 15 0 0.00 10 11 52.38 TIE1 0 genome.wustl.edu 37 1 43779725 43779726 + RNA DEL TG TG - TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 1 43779725 43779726 TG - DEL TIE1 ENST00000471187 human ensembl 74_37 +1 known rna NULL NULL 0.002:0.002 - - - no_errors TIE1 HGNC ENSG00000066056 tier1 8 0 0.00 2 2 50.00 TIGD3 0 genome.wustl.edu 37 11 65123435 65123435 + Silent SNP G G A TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 11 65123435 65123435 G A SNP TIGD3 ENST00000309880 human ensembl 74_37 +1 known silent c.156 p.K52 1.000 pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq pfam_HTH_CenpB_DNA-bd_dom,pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD3 HGNC ENSG00000173825 tier1 - - 92 0 0.00 60 20 25.00 TIMM23B 0 genome.wustl.edu 37 10 51374391 51374391 + Missense_Mutation SNP C C G TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 10 51374391 51374391 C G SNP TIMM23B ENST00000478381 human ensembl 74_37 +1 novel missense c.128 p.S43C 1.000 NULL NULL - no_errors TIMM23B HGNC ENSG00000204152 tier1 rs200196438 - 29 0 0.00 1 4 80.00 TMEM35 0 genome.wustl.edu 37 X 100349861 100349861 + Silent SNP T T C TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e X 100349861 100349861 T C SNP TMEM35 ENST00000372930 human ensembl 74_37 +1 known silent c.420 p.S140 0.777 NULL NULL - no_errors TMEM35 HGNC ENSG00000126950 tier1 - - 35 0 0.00 42 21 32.81 TRDMT1 0 genome.wustl.edu 37 10 17195515 17195515 + Missense_Mutation SNP G G A TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 10 17195515 17195515 G A SNP TRDMT1 ENST00000377799 human ensembl 74_37 -1 known missense c.1066 p.P356S 1.000 pfam_C5_MeTfrase,tigrfam_C5_MeTfrase pfam_C5_MeTfrase,prints_C5_MeTfrase,tigrfam_C5_MeTfrase - no_errors TRDMT1 HGNC ENSG00000107614 tier1 - - 74 0 0.00 29 12 29.27 TSHZ3 0 genome.wustl.edu 37 19 31770543 31770543 + Silent SNP G G A TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 19 31770543 31770543 G A SNP TSHZ3 ENST00000240587 human ensembl 74_37 -1 known silent c.156 p.L52 0.509 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 tier1 - - 47 0 0.00 10 37 78.72 TTN 0 genome.wustl.edu 37 2 179416648 179416648 + Missense_Mutation SNP G G T TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 2 179416648 179416648 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.83275 p.P27759T 0.860 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 100 0 0.00 48 60 55.56 UBR4 0 genome.wustl.edu 37 1 19524517 19524517 + Silent SNP T T A TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 1 19524517 19524517 T A SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known silent c.675 p.S225 0.480 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 tier1 - - 129 0 0.00 94 9 8.74 UNC5CL 0 genome.wustl.edu 37 6 40996259 40996259 + Silent SNP C C T TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 6 40996259 40996259 C T SNP UNC5CL ENST00000244565 human ensembl 74_37 -1 known silent c.1410 p.E470 1.000 pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain pfam_ZU5,pfam_Death_domain,superfamily_DEATH-like_dom,smart_ZU5,smart_Death_domain,pfscan_Death_domain,pfscan_ZU5 - no_errors UNC5CL HGNC ENSG00000124602 tier1 - - 55 0 0.00 44 17 27.87 WDR17 0 genome.wustl.edu 37 4 177052815 177052815 + Missense_Mutation SNP G G A TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 4 177052815 177052815 G A SNP WDR17 ENST00000280190 human ensembl 74_37 +1 known missense c.1096 p.V366M 0.960 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR17 HGNC ENSG00000150627 tier1 - - 182 0 0.00 153 76 33.19 WNK1 0 genome.wustl.edu 37 12 968440 968440 + Missense_Mutation SNP C C T TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 12 968440 968440 C T SNP WNK1 ENST00000530271 human ensembl 74_37 +1 known missense c.1430 p.A477V 1.000 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_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK1 HGNC ENSG00000060237 tier1 - - 83 0 0.00 76 19 20.00 XPNPEP1 0 genome.wustl.edu 37 10 111640682 111640682 + Missense_Mutation SNP C C T TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 10 111640682 111640682 C T SNP XPNPEP1 ENST00000502935 human ensembl 74_37 -1 known missense c.1049 p.R350H 1.000 NULL pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain - no_errors XPNPEP1 HGNC ENSG00000108039 tier1 - - 57 0 0.00 34 10 22.73 ZNF667 0 genome.wustl.edu 37 19 56954101 56954101 + Missense_Mutation SNP G G T TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 19 56954101 56954101 G T SNP ZNF667 ENST00000342634 human ensembl 74_37 -1 known missense c.647 p.S216Y 0.070 NULL 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 ZNF667 HGNC ENSG00000198046 tier1 - - 97 0 0.00 122 20 14.08 ZNF681 0 genome.wustl.edu 37 19 23927148 23927148 + Missense_Mutation SNP C C A TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 19 23927148 23927148 C A SNP ZNF681 ENST00000402377 human ensembl 74_37 -1 known missense c.1204 p.A402S 0.041 pfam_Znf_C2H2,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 ZNF681 HGNC ENSG00000196172 tier1 - - 69 0 0.00 49 8 14.04 ZNF880 0 genome.wustl.edu 37 19 52887913 52887913 + Silent SNP C C T TCGA-VQ-A94T-01A-11D-A410-08 TCGA-VQ-A94T-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e39a460-5a48-423c-90c5-2c0afc9a6857 44c4a371-0d19-4f7b-88f3-490bdda07d3e 19 52887913 52887913 C T SNP ZNF880 ENST00000422689 human ensembl 74_37 +1 known silent c.1080 p.V360 0.003 pfam_Znf_C2H2,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 ZNF880 HGNC ENSG00000221923 tier1 - - 25 0 0.00 18 14 43.75