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 OLFM3 0 genome.wustl.edu 37 1 102302454 102302454 + Missense_Mutation SNP A A G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 1 102302454 102302454 A G SNP OLFM3 ENST00000338858 human ensembl 74_37 -1 known missense c.257 p.L86P 1.000 pfam_Noelin-1,superfamily_Quino_amine_DH_bsu pfam_Olfac-like,pfam_Noelin-1,superfamily_Quino_amine_DH_bsu,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM3 HGNC ENSG00000118733 114 0 0 74 24 24.4898 ENSG00000203849 0 genome.wustl.edu 37 1 142700250 142700250 + RNA SNP T T G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 1 142700250 142700250 T G SNP ENSG00000203849 ENST00000369381 human ensembl 74_37 -1 known rna NULL NULL 0.036 - - - no_errors RP11-417J8.6 Clone_based_vega_gene ENSG00000203849 17 0 0 9 5 35.7143 BOLA1 0 genome.wustl.edu 37 1 149872091 149872091 + RNA SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 1 149872091 149872091 C T SNP BOLA1 ENST00000476344 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors BOLA1 HGNC ENSG00000178096 43 0 0 7 18 72 KIRREL 0 genome.wustl.edu 37 1 158057634 158057634 + Missense_Mutation SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 1 158057634 158057634 G A SNP KIRREL ENST00000368173 human ensembl 74_37 +1 known missense c.751 p.E251K 0.994 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL HGNC ENSG00000183853 53 0 0 22 15 40.5405 OR10X1 0 genome.wustl.edu 37 1 158549035 158549035 + Missense_Mutation SNP A A G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 1 158549035 158549035 A G SNP OR10X1 ENST00000368150 human ensembl 74_37 -1 known missense c.655 p.S219P 0.019 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10X1 HGNC ENSG00000186400 92 0 0 37 35 48.6111 PRRC2C 0 genome.wustl.edu 37 1 171506531 171506531 + Missense_Mutation SNP T T C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 1 171506531 171506531 T C SNP PRRC2C ENST00000392078 human ensembl 74_37 +1 known missense c.2423 p.L808P 1.000 NULL pfam_BAT2_N - no_errors PRRC2C HGNC ENSG00000117523 9 0 0 5 2 28.5714 TNN 0 genome.wustl.edu 37 1 175066623 175066623 + Silent SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 1 175066623 175066623 G A SNP TNN ENST00000239462 human ensembl 74_37 +1 known silent c.1659 p.P553 0.004 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 95 0 0 38 24 38.7097 NPHS2 0 genome.wustl.edu 37 1 179544780 179544780 + Missense_Mutation SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 1 179544780 179544780 C T SNP NPHS2 ENST00000367615 human ensembl 74_37 -1 known missense c.220 p.G74S 0.035 NULL pfam_Band_7,smart_Band_7,prints_Stomatin - no_errors NPHS2 HGNC ENSG00000116218 34 0 0 13 4 23.5294 PTGS2 0 genome.wustl.edu 37 1 186643502 186643502 + Missense_Mutation SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 1 186643502 186643502 G A SNP PTGS2 ENST00000367468 human ensembl 74_37 -1 known missense c.1798 p.R600C 1.000 NULL pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors PTGS2 HGNC ENSG00000073756 104 0 0 55 32 36.7816 PTPRC 0 genome.wustl.edu 37 1 198719705 198719705 + Silent SNP A A C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 1 198719705 198719705 A C SNP PTPRC ENST00000442510 human ensembl 74_37 +1 known silent c.3157 p.R1053 1.000 pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRC HGNC ENSG00000081237 122 0 0 64 33 34.0206 CAMSAP2 0 genome.wustl.edu 37 1 200823978 200823978 + Missense_Mutation SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 1 200823978 200823978 G A SNP CAMSAP2 ENST00000236925 human ensembl 74_37 +1 known missense c.3890 p.G1297D 1.000 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP2 HGNC ENSG00000118200 39 0 0 17 6 26.087 KIF17 0 genome.wustl.edu 37 1 21031239 21031239 + Missense_Mutation SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 1 21031239 21031239 G A SNP KIF17 ENST00000247986 human ensembl 74_37 -1 known missense c.824 p.S275L 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF17 HGNC ENSG00000117245 127 0 0 97 15 13.3929 LEFTY1 0 genome.wustl.edu 37 1 226075298 226075298 + Missense_Mutation SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 1 226075298 226075298 C T SNP LEFTY1 ENST00000272134 human ensembl 74_37 -1 known missense c.538 p.V180M 1.000 pfam_TGF-b_N,pirsf_LRDF pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_LRDF,prints_LRDF - no_errors LEFTY1 HGNC ENSG00000243709 30 0 0 21 8 27.5862 OR2G2 0 genome.wustl.edu 37 1 247752495 247752495 + Silent SNP T T C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 1 247752495 247752495 T C SNP OR2G2 ENST00000320065 human ensembl 74_37 +1 known silent c.834 p.S278 0.384 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 OR2G2 HGNC ENSG00000177489 199 0 0 76 96 55.814 OR2T12 0 genome.wustl.edu 37 1 248458004 248458004 + Missense_Mutation SNP T T C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 1 248458004 248458004 T C SNP OR2T12 ENST00000317996 human ensembl 74_37 -1 known missense c.877 p.S293G 0.038 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T12 HGNC ENSG00000177201 224 0 0 87 109 55.6122 OR2T3 0 genome.wustl.edu 37 1 248637432 248637432 + Missense_Mutation SNP T T G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 1 248637432 248637432 T G SNP OR2T3 ENST00000359594 human ensembl 74_37 +1 known missense c.781 p.F261V 0.003 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T3 HGNC ENSG00000196539 414 0 0 293 62 17.4648 PTPRU 0 genome.wustl.edu 37 1 29641952 29641952 + Missense_Mutation SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 1 29641952 29641952 G A SNP PTPRU ENST00000345512 human ensembl 74_37 +1 known missense c.3326 p.G1109D 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRU HGNC ENSG00000060656 129 0 0 47 63 57.2727 TIE1 0 genome.wustl.edu 37 1 43778820 43778820 + Nonsense_Mutation SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 1 43778820 43778820 C T SNP TIE1 ENST00000372476 human ensembl 74_37 +1 known nonsense c.1942 p.R648* 0.653 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TIE1 HGNC ENSG00000066056 66 0 0 31 28 47.4576 ATG4C 0 genome.wustl.edu 37 1 63282426 63282426 + Missense_Mutation SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 1 63282426 63282426 G A SNP ATG4C ENST00000317868 human ensembl 74_37 +1 known missense c.341 p.R114K 1.000 pfam_Peptidase_C54 pfam_Peptidase_C54 - no_errors ATG4C HGNC ENSG00000125703 41 0 0 28 8 22.2222 NEGR1 0 genome.wustl.edu 37 1 72400786 72400786 + Missense_Mutation SNP T T G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 1 72400786 72400786 T G SNP NEGR1 ENST00000357731 human ensembl 74_37 -1 known missense c.385 p.M129L 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors NEGR1 HGNC ENSG00000172260 63 0 0 29 9 23.6842 CA6 0 genome.wustl.edu 37 1 9017326 9017326 + Silent SNP G G T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 1 9017326 9017326 G T SNP CA6 ENST00000377443 human ensembl 74_37 +1 known silent c.390 p.G130 0.259 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA6 HGNC ENSG00000131686 69 0 0 47 13 21.6667 SLC25A33 0 genome.wustl.edu 37 1 9642545 9642545 + Missense_Mutation SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 1 9642545 9642545 G A SNP SLC25A33 ENST00000302692 human ensembl 74_37 +1 known missense c.952 p.D318N 1.000 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A33 HGNC ENSG00000171612 25 0 0 13 12 48 ATRNL1 0 genome.wustl.edu 37 10 117026352 117026352 + Silent SNP T T C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 10 117026352 117026352 T C SNP ATRNL1 ENST00000355044 human ensembl 74_37 +1 known silent c.1851 p.A617 1.000 superfamily_Plexin-like_fold,smart_Plexin-like_fold pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRNL1 HGNC ENSG00000107518 133 0 0 79 76 49.0323 KNDC1 0 genome.wustl.edu 37 10 134980918 134980918 + Silent SNP C C A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 10 134980918 134980918 C A SNP KNDC1 ENST00000368572 human ensembl 74_37 +1 known silent c.136 p.R46 1.000 smart_KIND pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors KNDC1 HGNC ENSG00000171798 8 0 0 2 7 77.7778 CUBN 0 genome.wustl.edu 37 10 16957886 16957886 + Missense_Mutation SNP A A G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 10 16957886 16957886 A G SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.7144 p.F2382L 0.010 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 108 0 0 77 53 40.7692 GPR158 0 genome.wustl.edu 37 10 25861698 25861698 + Silent SNP T T G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 10 25861698 25861698 T G SNP GPR158 ENST00000376351 human ensembl 74_37 +1 known silent c.1635 p.T545 0.613 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 70 0 0 42 32 43.2432 MASTL 0 genome.wustl.edu 37 10 27459533 27459533 + Missense_Mutation SNP T T A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 10 27459533 27459533 T A SNP MASTL ENST00000375940 human ensembl 74_37 +1 known missense c.1645 p.L549I 0.013 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom 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 - no_errors MASTL HGNC ENSG00000120539 88 0 0 60 52 46.4286 KIAA1462 0 genome.wustl.edu 37 10 30316027 30316027 + Missense_Mutation SNP G G C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 10 30316027 30316027 G C SNP KIAA1462 ENST00000375377 human ensembl 74_37 -1 known missense c.3050 p.A1017G 0.000 NULL NULL - no_errors KIAA1462 HGNC ENSG00000165757 206 0 0 120 71 37.1728 ZNF25 0 genome.wustl.edu 37 10 38241394 38241394 + Silent SNP A A G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 10 38241394 38241394 A G SNP ZNF25 ENST00000302609 human ensembl 74_37 -1 known silent c.1032 p.C344 0.807 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 ZNF25 HGNC ENSG00000175395 65 0 0 38 45 54.2169 ZNF33A 0 genome.wustl.edu 37 10 38345147 38345147 + Missense_Mutation SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 10 38345147 38345147 G A SNP ZNF33A ENST00000432900 human ensembl 74_37 +1 known missense c.2113 p.G705R 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF33A HGNC ENSG00000189180 113 0 0 98 50 33.7838 HSD17B7P2 0 genome.wustl.edu 37 10 38654432 38654432 + RNA SNP A A G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 10 38654432 38654432 A G SNP HSD17B7P2 ENST00000494540 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HSD17B7P2 HGNC ENSG00000099251 59 0 0 63 4 5.97015 STOX1 0 genome.wustl.edu 37 10 70644497 70644497 + Silent SNP C C G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 10 70644497 70644497 C G SNP STOX1 ENST00000298596 human ensembl 74_37 +1 known silent c.945 p.L315 0.998 NULL pfam_Storkhead-box_winged-helix - no_errors STOX1 HGNC ENSG00000165730 131 0 0 84 59 41.2587 AIFM2 0 genome.wustl.edu 37 10 71876494 71876494 + Missense_Mutation SNP T T C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 10 71876494 71876494 T C SNP AIFM2 ENST00000307864 human ensembl 74_37 -1 known missense c.653 p.N218S 0.892 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Pyridine_nuc-diS_OxRdtase_2,prints_Rng_hydrolase-like - no_errors AIFM2 HGNC ENSG00000042286 148 0 0 91 78 46.1538 KCNMA1 0 genome.wustl.edu 37 10 78674744 78674744 + Missense_Mutation SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 10 78674744 78674744 C T SNP KCNMA1 ENST00000406533 human ensembl 74_37 -1 known missense c.2978 p.R993H 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl - no_errors KCNMA1 HGNC ENSG00000156113 236 0 0 173 118 40.5498 ZMIZ1 0 genome.wustl.edu 37 10 81052014 81052014 + Silent SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 10 81052014 81052014 G A SNP ZMIZ1 ENST00000334512 human ensembl 74_37 +1 known silent c.858 p.A286 0.739 NULL pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ1 HGNC ENSG00000108175 163 0 0 95 87 47.8022 CDHR1 0 genome.wustl.edu 37 10 85974024 85974024 + Missense_Mutation SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 10 85974024 85974024 C T SNP CDHR1 ENST00000372117 human ensembl 74_37 +1 known missense c.2227 p.R743W 0.917 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR1 HGNC ENSG00000148600 83 0 0 56 23 29.1139 MUC6 0 genome.wustl.edu 37 11 1017663 1017663 + Missense_Mutation SNP T T A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 11 1017663 1017663 T A SNP MUC6 ENST00000421673 human ensembl 74_37 -1 known missense c.5138 p.N1713I 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 573 0 0 323 60 15.6658 LMO2 0 genome.wustl.edu 37 11 33886163 33886163 + Missense_Mutation SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 11 33886163 33886163 C T SNP LMO2 ENST00000257818 human ensembl 74_37 -1 known missense c.449 p.R150Q 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LMO2 HGNC ENSG00000135363 33 0 0 16 8 33.3333 ACCSL 0 genome.wustl.edu 37 11 44074565 44074565 + Missense_Mutation SNP T T A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 11 44074565 44074565 T A SNP ACCSL ENST00000378832 human ensembl 74_37 +1 known missense c.895 p.F299I 0.995 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors ACCSL HGNC ENSG00000205126 91 0 0 40 33 45.2055 OR52I2 0 genome.wustl.edu 37 11 4608534 4608534 + Missense_Mutation SNP A A T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 11 4608534 4608534 A T SNP OR52I2 ENST00000312614 human ensembl 74_37 +1 known missense c.492 p.R164S 0.034 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52I2 HGNC ENSG00000226288 103 0 0 37 23 38.3333 OR5D13 0 genome.wustl.edu 37 11 55541187 55541187 + Nonsense_Mutation SNP A A T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 11 55541187 55541187 A T SNP OR5D13 ENST00000361760 human ensembl 74_37 +1 known nonsense c.274 p.R92* 0.369 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D13 HGNC ENSG00000198877 169 0 0 167 46 21.5962 OR5T3 0 genome.wustl.edu 37 11 56019837 56019837 + Silent SNP A A G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 11 56019837 56019837 A G SNP OR5T3 ENST00000303059 human ensembl 74_37 +1 known silent c.162 p.Q54 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T3 HGNC ENSG00000172489 106 0 0 85 28 24.7788 GPR137 0 genome.wustl.edu 37 11 64055814 64055814 + Missense_Mutation SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 11 64055814 64055814 G A SNP GPR137 ENST00000546201 human ensembl 74_37 +1 known missense c.410 p.R137Q 0.987 NULL NULL - no_errors GPR137 HGNC ENSG00000173264 152 0 0 22 107 82.9457 GRM5 0 genome.wustl.edu 37 11 88583222 88583222 + Missense_Mutation SNP G G T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 11 88583222 88583222 G T SNP GRM5 ENST00000305447 human ensembl 74_37 -1 known missense c.763 p.Q255K 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C - no_errors GRM5 HGNC ENSG00000168959 47 0 0 12 39 76.4706 FOLH1B 0 genome.wustl.edu 37 11 89431691 89431691 + RNA SNP G G T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 11 89431691 89431691 G T SNP FOLH1B ENST00000525540 human ensembl 74_37 +1 known rna NULL NULL 0.137 - - - no_errors FOLH1B HGNC ENSG00000134612 147 0 0 18 114 86.3636 TRIM49C 0 genome.wustl.edu 37 11 89774236 89774236 + Missense_Mutation SNP C C G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 11 89774236 89774236 C G SNP TRIM49C ENST00000448984 human ensembl 74_37 +1 known missense c.877 p.H293D 0.024 superfamily_ConA-like_lec_gl_sf,prints_Butyrophylin,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM49C HGNC ENSG00000204449 31 0 0 24 2 7.69231 TRIM49C 0 genome.wustl.edu 37 11 89774338 89774338 + Missense_Mutation SNP A A C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 11 89774338 89774338 A C SNP TRIM49C ENST00000448984 human ensembl 74_37 +1 known missense c.979 p.S327R 0.001 superfamily_ConA-like_lec_gl_sf,prints_Butyrophylin,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM49C HGNC ENSG00000204449 54 0 0 19 42 68.8525 ENSG00000180574 0 genome.wustl.edu 37 12 10659737 10659737 + Silent SNP G G T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 12 10659737 10659737 G T SNP ENSG00000180574 ENST00000538173 human ensembl 74_37 +1 known silent c.1236 p.S412 0.717 pfam_TIF2_gsu_C,superfamily_Transl_elong_EF1A/Init_IF2_C pfam_EF_GTP-bd_dom,pfam_TIF2_gsu_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom - no_errors EIF2S3L Uniprot_gn ENSG00000180574 232 0 0 38 105 73.4266 KSR2 0 genome.wustl.edu 37 12 118105417 118105417 + Missense_Mutation SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 12 118105417 118105417 C T SNP KSR2 ENST00000339824 human ensembl 74_37 -1 known missense c.1033 p.V345I 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors KSR2 HGNC ENSG00000171435 28 0 0 23 13 36.1111 EP400 0 genome.wustl.edu 37 12 132546656 132546656 + Missense_Mutation SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 12 132546656 132546656 C T SNP EP400 ENST00000333577 human ensembl 74_37 +1 known missense c.7994 p.T2665M 0.997 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 50 0 0 30 12 28.5714 BCAT1 0 genome.wustl.edu 37 12 25002867 25002867 + Missense_Mutation SNP T T G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 12 25002867 25002867 T G SNP BCAT1 ENST00000261192 human ensembl 74_37 -1 known missense c.527 p.K176T 1.000 pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII - no_errors BCAT1 HGNC ENSG00000060982 60 0 0 42 322 88.4615 LRRK2 0 genome.wustl.edu 37 12 40697927 40697927 + Missense_Mutation SNP A A C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 12 40697927 40697927 A C SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.3768 p.K1256N 0.998 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 67 0 0 48 33 40.7407 FGF6 0 genome.wustl.edu 37 12 4543436 4543436 + Missense_Mutation SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 12 4543436 4543436 C T SNP FGF6 ENST00000228837 human ensembl 74_37 -1 known missense c.572 p.R191Q 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_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 FGF6 HGNC ENSG00000111241 98 0 0 48 43 47.2527 KMT2D 0 genome.wustl.edu 37 12 49416540 49416540 + Silent SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 12 49416540 49416540 G A SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known silent c.16171 p.L5391 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 102 0 0 70 40 36.3636 C1QL4 0 genome.wustl.edu 37 12 49729959 49729959 + Missense_Mutation SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 12 49729959 49729959 G A SNP C1QL4 ENST00000334221 human ensembl 74_37 -1 known missense c.302 p.A101V 0.000 NULL pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QL4 HGNC ENSG00000186897 18 0 0 13 3 18.75 KCNA5 0 genome.wustl.edu 37 12 5154932 5154932 + Missense_Mutation SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 12 5154932 5154932 G A SNP KCNA5 ENST00000252321 human ensembl 74_37 +1 known missense c.1619 p.G540D 0.017 prints_K_chnl_volt-dep_Kv1.5 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA5 HGNC ENSG00000130037 62 0 0 24 22 47.8261 NAV3 0 genome.wustl.edu 37 12 78443852 78443852 + Silent SNP C C A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 12 78443852 78443852 C A SNP NAV3 ENST00000397909 human ensembl 74_37 +1 known silent c.2103 p.S701 0.897 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 51 0 0 40 25 38.4615 MGAT4C 0 genome.wustl.edu 37 12 86373864 86373864 + Missense_Mutation SNP C C A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 12 86373864 86373864 C A SNP MGAT4C ENST00000393205 human ensembl 74_37 -1 known missense c.727 p.A243S 1.000 pfam_Glyco_transf_54 pfam_Glyco_transf_54,superfamily_LSM_dom - no_errors MGAT4C HGNC ENSG00000182050 94 0 0 88 51 36.6906 MTUS2 0 genome.wustl.edu 37 13 29608101 29608101 + Missense_Mutation SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 13 29608101 29608101 C T SNP MTUS2 ENST00000431530 human ensembl 74_37 +1 known missense c.2315 p.S772L 0.957 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 51 0 0 27 22 44.898 EEF1DP3 0 genome.wustl.edu 37 13 32527340 32527340 + RNA SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 13 32527340 32527340 C T SNP EEF1DP3 ENST00000428783 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors EEF1DP3 HGNC ENSG00000229715 47 0 0 17 17 50 NBEA 0 genome.wustl.edu 37 13 35644947 35644947 + Missense_Mutation SNP A A T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 13 35644947 35644947 A T SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.1529 p.D510V 1.000 superfamily_ARM-type_fold 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 115 0 0 58 38 39.5833 POSTN 0 genome.wustl.edu 37 13 38137480 38137480 + Missense_Mutation SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 13 38137480 38137480 C T SNP POSTN ENST00000379747 human ensembl 74_37 -1 known missense c.2501 p.R834H 0.154 NULL pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors POSTN HGNC ENSG00000133110 44 0 0 39 11 22 MTRF1 0 genome.wustl.edu 37 13 41834883 41834883 + Missense_Mutation SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 13 41834883 41834883 C T SNP MTRF1 ENST00000430347 human ensembl 74_37 -1 known missense c.200 p.S67N 0.011 NULL pfam_Pep_chain_release_fac_I_II,pfam_PCRF,smart_PCRF - no_errors MTRF1 HGNC ENSG00000120662 222 0 0 147 51 25.7576 PCDH8 0 genome.wustl.edu 37 13 53420277 53420277 + Silent SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 13 53420277 53420277 G A SNP PCDH8 ENST00000377942 human ensembl 74_37 -1 known silent c.2295 p.A765 0.997 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH8 HGNC ENSG00000136099 63 0 0 49 23 31.9444 MYCBP2 0 genome.wustl.edu 37 13 77664288 77664288 + Missense_Mutation SNP G G T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 13 77664288 77664288 G T SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known missense c.10478 p.A3493E 1.000 superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 122 0 0 75 73 49.3243 POTEG 0 genome.wustl.edu 37 14 19563441 19563441 + Missense_Mutation SNP A A C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 14 19563441 19563441 A C SNP POTEG ENST00000409832 human ensembl 74_37 +1 known missense c.955 p.S319R 0.003 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEG HGNC ENSG00000222036 110 0 0 116 21 15.3285 ENSG00000258727 0 genome.wustl.edu 37 14 24035439 24035439 + RNA SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 14 24035439 24035439 G A SNP ENSG00000258727 ENST00000555968 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-66N24.3 Clone_based_vega_gene ENSG00000258727 80 0 0 14 44 75.8621 SNHG14 0 genome.wustl.edu 37 15 25415694 25415694 + RNA SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 15 25415694 25415694 G A SNP SNHG14 ENST00000553149 human ensembl 74_37 +1 known rna NULL NULL 0.034 - - - no_errors SNHG14 HGNC ENSG00000224078 23 0 0 31 3 8.82353 OCA2 0 genome.wustl.edu 37 15 28261279 28261279 + Silent SNP C C G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 15 28261279 28261279 C G SNP OCA2 ENST00000354638 human ensembl 74_37 -1 known silent c.861 p.V287 0.373 NULL pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB - no_errors OCA2 HGNC ENSG00000104044 90 0 0 75 55 42.3077 FMN1 0 genome.wustl.edu 37 15 33261648 33261648 + Missense_Mutation SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 15 33261648 33261648 G A SNP FMN1 ENST00000334528 human ensembl 74_37 -1 known missense c.1585 p.R529W 1.000 NULL pfam_FH2_Formin,smart_FH2_Formin,prints_Formin_Cappuccino_subfam - no_errors FMN1 HGNC ENSG00000248905 139 0 0 89 75 45.7317 RPAP1 0 genome.wustl.edu 37 15 41812627 41812627 + Missense_Mutation SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 15 41812627 41812627 C T SNP RPAP1 ENST00000304330 human ensembl 74_37 -1 known missense c.3757 p.V1253M 1.000 NULL pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold - no_errors RPAP1 HGNC ENSG00000103932 35 0 0 33 20 37.7358 MYO5A 0 genome.wustl.edu 37 15 52667640 52667640 + Missense_Mutation SNP C C A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 15 52667640 52667640 C A SNP MYO5A ENST00000358212 human ensembl 74_37 -1 known missense c.2438 p.R813L 1.000 superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5A HGNC ENSG00000197535 56 0 0 39 22 36.0656 KBTBD13 0 genome.wustl.edu 37 15 65370127 65370127 + Missense_Mutation SNP T T A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 15 65370127 65370127 T A SNP KBTBD13 ENST00000432196 human ensembl 74_37 +1 known missense c.974 p.V325E 0.000 NULL pfam_Kelch_1,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KBTBD13 HGNC ENSG00000234438 18 0 0 9 12 57.1429 CILP 0 genome.wustl.edu 37 15 65491108 65491108 + Missense_Mutation SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 15 65491108 65491108 G A SNP CILP ENST00000261883 human ensembl 74_37 -1 known missense c.1516 p.R506C 1.000 superfamily_CarboxyPept-like_regulatory pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors CILP HGNC ENSG00000138615 75 0 0 42 33 44 C15orf59 0 genome.wustl.edu 37 15 74032739 74032739 + Missense_Mutation SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 15 74032739 74032739 C T SNP C15orf59 ENST00000379822 human ensembl 74_37 -1 known missense c.401 p.G134E 0.697 NULL superfamily_Polyketide_synth_docking - no_errors C15orf59 HGNC ENSG00000205363 135 0 0 93 58 38.4106 ARNT2 0 genome.wustl.edu 37 15 80806710 80806710 + Missense_Mutation SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 15 80806710 80806710 C T SNP ARNT2 ENST00000303329 human ensembl 74_37 +1 known missense c.841 p.H281Y 1.000 superfamily_PAS,prints_Nuc_translocat pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom,prints_Nuc_translocat,tigrfam_PAS - no_errors ARNT2 HGNC ENSG00000172379 199 0 0 150 102 40.4762 ADAMTSL3 0 genome.wustl.edu 37 15 84539669 84539669 + Silent SNP T T G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 15 84539669 84539669 T G SNP ADAMTSL3 ENST00000286744 human ensembl 74_37 +1 known silent c.918 p.T306 0.941 NULL pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC ENSG00000156218 105 0 0 67 44 39.6396 ENSG00000260136 0 genome.wustl.edu 37 16 23464352 23464352 + RNA SNP G G C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 16 23464352 23464352 G C SNP ENSG00000260136 ENST00000562842 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-2270L9.4 Clone_based_vega_gene ENSG00000260136 38 0 0 6 32 84.2105 RRN3P2 0 genome.wustl.edu 37 16 29110458 29110458 + RNA SNP T T C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 16 29110458 29110458 T C SNP RRN3P2 ENST00000427965 human ensembl 74_37 +1 known rna NULL NULL 0.991 - - - no_errors RRN3P2 HGNC ENSG00000103472 60 0 0 45 4 8.16327 ADAMTS18 0 genome.wustl.edu 37 16 77327095 77327095 + Missense_Mutation SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 16 77327095 77327095 C T SNP ADAMTS18 ENST00000282849 human ensembl 74_37 -1 known missense c.3067 p.A1023T 0.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS18 HGNC ENSG00000140873 107 0 0 81 55 40.4412 ZNF287 0 genome.wustl.edu 37 17 16470856 16470856 + Missense_Mutation SNP G G C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 17 16470856 16470856 G C SNP ZNF287 ENST00000395824 human ensembl 74_37 -1 known missense c.190 p.R64G 1.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Znf_C2H2,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_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF287 HGNC ENSG00000141040 145 0 0 18 60 76.9231 ERBB2 0 genome.wustl.edu 37 17 37863285 37863285 + Missense_Mutation SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 17 37863285 37863285 C T SNP ERBB2 ENST00000269571 human ensembl 74_37 +1 known missense c.116 p.P39L 0.725 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB2 HGNC ENSG00000141736 72 0 0 18 35 66.0377 ERBB2 0 genome.wustl.edu 37 17 37880998 37880998 + Missense_Mutation SNP G G T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 17 37880998 37880998 G T SNP ERBB2 ENST00000269571 human ensembl 74_37 +1 known missense c.2327 p.G776V 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,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 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB2 HGNC ENSG00000141736 93 0 0 17 54 76.0563 ATP6V0A1 0 genome.wustl.edu 37 17 40650953 40650953 + Silent SNP T T C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 17 40650953 40650953 T C SNP ATP6V0A1 ENST00000264649 human ensembl 74_37 +1 known silent c.1593 p.I531 1.000 pfam_V-ATPase_116kDa_su pfam_V-ATPase_116kDa_su - no_errors ATP6V0A1 HGNC ENSG00000033627 101 0 0 19 59 75.641 ENSG00000248278 0 genome.wustl.edu 37 17 46952238 46952238 + RNA SNP G G C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 17 46952238 46952238 G C SNP ENSG00000248278 ENST00000508743 human ensembl 74_37 -1 known rna NULL NULL 0.996 - - - no_errors RP11-463M16.4 Clone_based_vega_gene ENSG00000248278 34 0 0 7 19 73.0769 INTS2 0 genome.wustl.edu 37 17 59946443 59946443 + Missense_Mutation SNP G G C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 17 59946443 59946443 G C SNP INTS2 ENST00000444766 human ensembl 74_37 -1 known missense c.3220 p.L1074V 1.000 NULL NULL - no_errors INTS2 HGNC ENSG00000108506 59 0 0 12 45 78.9474 ENSG00000269657 0 genome.wustl.edu 37 17 66539847 66539847 + Missense_Mutation SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 17 66539847 66539847 C T SNP ENSG00000269657 ENST00000600820 human ensembl 74_37 +1 known missense c.106 p.L36F 0.805 NULL NULL - no_errors AC079210.1 Clone_based_ensembl_gene ENSG00000269657 106 1 0.934579 14 5 26.3158 DNAH2 0 genome.wustl.edu 37 17 7689646 7689646 + Missense_Mutation SNP T T G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 17 7689646 7689646 T G SNP DNAH2 ENST00000389173 human ensembl 74_37 +1 known missense c.6334 p.F2112V 1.000 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 50 0 0 12 21 63.6364 AATK 0 genome.wustl.edu 37 17 79095778 79095778 + Missense_Mutation SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 17 79095778 79095778 G A SNP AATK ENST00000326724 human ensembl 74_37 -1 known missense c.1958 p.A653V 0.023 NULL 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AATK HGNC ENSG00000181409 29 0 0 11 7 38.8889 USP14 0 genome.wustl.edu 37 18 180256 180256 + Silent SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 18 180256 180256 G A SNP USP14 ENST00000261601 human ensembl 74_37 +1 known silent c.321 p.L107 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,smart_Ubiquitin_dom,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup - no_errors USP14 HGNC ENSG00000101557 67 0 0 45 6 11.7647 TCEB3B 0 genome.wustl.edu 37 18 44559804 44559804 + Missense_Mutation SNP A A G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 18 44559804 44559804 A G SNP TCEB3B ENST00000332567 human ensembl 74_37 -1 known missense c.1832 p.L611P 1.000 pfam_RNA_pol_II_trans_fac_SIII_A pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3B HGNC ENSG00000206181 160 0 0 98 27 21.6 CXXC1 0 genome.wustl.edu 37 18 47813192 47813192 + Missense_Mutation SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 18 47813192 47813192 C T SNP CXXC1 ENST00000412036 human ensembl 74_37 -1 known missense c.40 p.G14R 0.992 NULL pfam_CpG-bd_C,pfam_Znf_CXXC,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors CXXC1 HGNC ENSG00000154832 135 0 0 85 42 33.0709 DCC 0 genome.wustl.edu 37 18 50985613 50985613 + Missense_Mutation SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 18 50985613 50985613 C T SNP DCC ENST00000442544 human ensembl 74_37 +1 known missense c.3404 p.T1135I 1.000 pfam_Neogenin_C pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DCC HGNC ENSG00000187323 82 0 0 58 19 24.6753 RPL6P27 0 genome.wustl.edu 37 18 6462195 6462195 + RNA SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 18 6462195 6462195 C T SNP RPL6P27 ENST00000583065 human ensembl 74_37 -1 known rna NULL NULL 0.990 - - - no_errors RPL6P27 HGNC ENSG00000235552 36 0 0 14 8 36.3636 LAMA1 0 genome.wustl.edu 37 18 6977748 6977748 + Missense_Mutation SNP T T C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 18 6977748 6977748 T C SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.6323 p.Q2108R 1.000 pfam_Laminin_II pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 52 0 0 10 18 64.2857 COL5A3 0 genome.wustl.edu 37 19 10085054 10085054 + Missense_Mutation SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 19 10085054 10085054 G A SNP COL5A3 ENST00000264828 human ensembl 74_37 -1 known missense c.3373 p.P1125S 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A3 HGNC ENSG00000080573 61 0 0 37 3 7.5 ADAMTSL5 0 genome.wustl.edu 37 19 1508022 1508022 + Missense_Mutation SNP G G C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 19 1508022 1508022 G C SNP ADAMTSL5 ENST00000413997 human ensembl 74_37 -1 known missense c.606 p.F202L 0.234 NULL pfam_ADAM_spacer1,pfam_Netrin_module_non-TIMP,pfam_Thrombospondin_1_rpt,superfamily_TIMP-like_OB-fold,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Netrin_module_non-TIMP,pfscan_Netrin_domain,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL5 HGNC ENSG00000185761 18 0 0 7 4 36.3636 CALR3 0 genome.wustl.edu 37 19 16590003 16590003 + Missense_Mutation SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 19 16590003 16590003 G A SNP CALR3 ENST00000269881 human ensembl 74_37 -1 known missense c.1094 p.S365L 0.000 pirsf_Calreticulin pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P_dom,pirsf_Calreticulin,prints_Calret/calnex - no_errors CALR3 HGNC ENSG00000269058 134 0 0 57 30 34.4828 MAP1S 0 genome.wustl.edu 37 19 17838295 17838295 + Missense_Mutation SNP C C G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 19 17838295 17838295 C G SNP MAP1S ENST00000324096 human ensembl 74_37 +1 known missense c.2102 p.S701C 1.000 NULL NULL - no_errors MAP1S HGNC ENSG00000130479 19 0 0 11 4 26.6667 ATP8B3 0 genome.wustl.edu 37 19 1784890 1784890 + Silent SNP A A G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 19 1784890 1784890 A G SNP ATP8B3 ENST00000539485 human ensembl 74_37 -1 known silent c.3618 p.S1206 0.024 NULL 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 ATP8B3 HGNC ENSG00000130270 44 0 0 32 4 11.1111 FKBP8 0 genome.wustl.edu 37 19 18652694 18652694 + Silent SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 19 18652694 18652694 C T SNP FKBP8 ENST00000453489 human ensembl 74_37 -1 known silent c.174 p.G58 0.245 NULL pfam_PPIase_FKBP_dom,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP8 HGNC ENSG00000105701 27 0 0 10 10 50 ZNF486 0 genome.wustl.edu 37 19 20295168 20295168 + Missense_Mutation SNP T T C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 19 20295168 20295168 T C SNP ZNF486 ENST00000335117 human ensembl 74_37 +1 known missense c.34 p.S12P 0.233 superfamily_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF486 HGNC ENSG00000256229 250 0 0 81 102 55.7377 PAK4 0 genome.wustl.edu 37 19 39664631 39664631 + Missense_Mutation SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 19 39664631 39664631 G A SNP PAK4 ENST00000358301 human ensembl 74_37 +1 known missense c.1079 p.R360H 0.832 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_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK4 HGNC ENSG00000130669 19 0 0 6 8 57.1429 ZC3H4 0 genome.wustl.edu 37 19 47597703 47597703 + Missense_Mutation SNP C C G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 19 47597703 47597703 C G SNP ZC3H4 ENST00000253048 human ensembl 74_37 -1 known missense c.324 p.K108N 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H4 HGNC ENSG00000130749 479 0 0 324 103 24.1218 RCN3 0 genome.wustl.edu 37 19 50031892 50031892 + Missense_Mutation SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 19 50031892 50031892 G A SNP RCN3 ENST00000270645 human ensembl 74_37 +1 known missense c.163 p.D55N 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors RCN3 HGNC ENSG00000142552 140 0 0 50 56 52.8302 ASPDH 0 genome.wustl.edu 37 19 51017841 51017841 + RNA SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 19 51017841 51017841 C T SNP ASPDH ENST00000597030 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ASPDH HGNC ENSG00000204653 80 0 0 50 16 24.2424 ZNF347 0 genome.wustl.edu 37 19 53644890 53644890 + Silent SNP T T C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 19 53644890 53644890 T C SNP ZNF347 ENST00000452676 human ensembl 74_37 -1 known silent c.1194 p.G398 0.945 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 ZNF347 HGNC ENSG00000197937 139 0 0 53 68 56.1983 VN1R4 0 genome.wustl.edu 37 19 53770580 53770580 + Silent SNP T T C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 19 53770580 53770580 T C SNP VN1R4 ENST00000311170 human ensembl 74_37 -1 known silent c.339 p.K113 0.003 pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1 pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1 - no_errors VN1R4 HGNC ENSG00000228567 40 0 0 22 27 55.102 VN1R4 0 genome.wustl.edu 37 19 53770593 53770593 + Missense_Mutation SNP A A C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 19 53770593 53770593 A C SNP VN1R4 ENST00000311170 human ensembl 74_37 -1 known missense c.326 p.V109G 0.438 pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1 - no_errors VN1R4 HGNC ENSG00000228567 33 0 0 22 22 50 TMC4 0 genome.wustl.edu 37 19 54664210 54664210 + Silent SNP T T C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 19 54664210 54664210 T C SNP TMC4 ENST00000301187 human ensembl 74_37 -1 known silent c.2046 p.R682 0.073 NULL pfam_TMC - no_errors TMC4 HGNC ENSG00000167608 120 0 0 40 50 55.5556 ZNF471 0 genome.wustl.edu 37 19 57037314 57037314 + Silent SNP T T G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 19 57037314 57037314 T G SNP ZNF471 ENST00000308031 human ensembl 74_37 +1 known silent c.1878 p.P626 0.024 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 ZNF471 HGNC ENSG00000196263 99 0 0 43 45 51.1364 ZNF71 0 genome.wustl.edu 37 19 57133214 57133214 + Missense_Mutation SNP G G T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 19 57133214 57133214 G T SNP ZNF71 ENST00000328070 human ensembl 74_37 +1 known missense c.559 p.A187S 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF71 HGNC ENSG00000197951 85 0 0 26 33 55.9322 ZNF814 0 genome.wustl.edu 37 19 58385714 58385714 + Missense_Mutation SNP T T G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 19 58385714 58385714 T G SNP ZNF814 ENST00000435989 human ensembl 74_37 -1 known missense c.1044 p.E348D 1.000 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 ZNF814 HGNC ENSG00000204514 28 0 0 13 7 35 ZNF329 0 genome.wustl.edu 37 19 58639918 58639918 + Missense_Mutation SNP T T G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 19 58639918 58639918 T G SNP ZNF329 ENST00000358067 human ensembl 74_37 -1 known missense c.953 p.N318T 0.515 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF329 HGNC ENSG00000181894 116 0 0 87 41 32.0312 C3 0 genome.wustl.edu 37 19 6694539 6694539 + Silent SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 19 6694539 6694539 C T SNP C3 ENST00000245907 human ensembl 74_37 -1 known silent c.3057 p.T1019 0.894 pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,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,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain - no_errors C3 HGNC ENSG00000125730 108 0 0 41 23 35.9375 OR2Z1 0 genome.wustl.edu 37 19 8841424 8841424 + Missense_Mutation SNP T T A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 19 8841424 8841424 T A SNP OR2Z1 ENST00000324060 human ensembl 74_37 +1 known missense c.34 p.F12I 0.344 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2Z1 HGNC ENSG00000181733 80 0 0 31 19 38 OR7D4 0 genome.wustl.edu 37 19 9324989 9324989 + Silent SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 19 9324989 9324989 C T SNP OR7D4 ENST00000308682 human ensembl 74_37 -1 known silent c.525 p.P175 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7D4 HGNC ENSG00000174667 125 0 0 48 24 33.3333 RGPD4 0 genome.wustl.edu 37 2 108487634 108487634 + Missense_Mutation SNP A A C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 2 108487634 108487634 A C SNP RGPD4 ENST00000354986 human ensembl 74_37 +1 known missense c.3174 p.K1058N 1.000 pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC ENSG00000196862 661 0 0 483 151 23.817 ATP6V1C2 0 genome.wustl.edu 37 2 10917808 10917808 + Missense_Mutation SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 2 10917808 10917808 G A SNP ATP6V1C2 ENST00000272238 human ensembl 74_37 +1 known missense c.923 p.G308E 1.000 pfam_ATPase_V1-cplx_csu pfam_ATPase_V1-cplx_csu - no_errors ATP6V1C2 HGNC ENSG00000143882 98 0 0 91 5 5.20833 SNTG2 0 genome.wustl.edu 37 2 1241710 1241710 + Missense_Mutation SNP T T C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 2 1241710 1241710 T C SNP SNTG2 ENST00000308624 human ensembl 74_37 +1 known missense c.770 p.L257P 0.733 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SNTG2 HGNC ENSG00000172554 17 0 0 10 7 41.1765 LRP2 0 genome.wustl.edu 37 2 170131608 170131608 + Missense_Mutation SNP T T G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 2 170131608 170131608 T G SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.1913 p.Y638S 0.600 NULL pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 73 0 0 31 23 42.5926 GAD1 0 genome.wustl.edu 37 2 171700589 171700589 + Missense_Mutation SNP A A G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 2 171700589 171700589 A G SNP GAD1 ENST00000358196 human ensembl 74_37 +1 known missense c.673 p.M225V 1.000 pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase - no_errors GAD1 HGNC ENSG00000128683 60 0 0 53 20 27.3973 SLC25A12 0 genome.wustl.edu 37 2 172690559 172690559 + Missense_Mutation SNP A A T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 2 172690559 172690559 A T SNP SLC25A12 ENST00000422440 human ensembl 74_37 -1 known missense c.759 p.F253L 1.000 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A12 HGNC ENSG00000115840 128 0 0 85 46 35.1145 HOXD8 0 genome.wustl.edu 37 2 176995668 176995668 + Missense_Mutation SNP C C A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 2 176995668 176995668 C A SNP HOXD8 ENST00000313173 human ensembl 74_37 +1 known missense c.574 p.Q192K 1.000 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors HOXD8 HGNC ENSG00000175879 69 0 0 33 28 45.9016 TTN 0 genome.wustl.edu 37 2 179472135 179472135 + Missense_Mutation SNP T T G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 2 179472135 179472135 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.45576 p.E15192D 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub 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 162 0 0 118 52 30.5882 CWC22 0 genome.wustl.edu 37 2 180815583 180815583 + Missense_Mutation SNP A A C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 2 180815583 180815583 A C SNP CWC22 ENST00000295749 human ensembl 74_37 -1 known missense c.1888 p.F630V 1.000 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI - no_errors CWC22 HGNC ENSG00000163510 20 0 0 6 11 64.7059 PLCL1 0 genome.wustl.edu 37 2 198950817 198950817 + Missense_Mutation SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 2 198950817 198950817 G A SNP PLCL1 ENST00000428675 human ensembl 74_37 +1 known missense c.2576 p.R859H 1.000 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL1 HGNC ENSG00000115896 81 0 0 28 42 60 NBEAL1 0 genome.wustl.edu 37 2 204055113 204055113 + Splice_Site SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 2 204055113 204055113 G A SNP NBEAL1 ENST00000449802 human ensembl 74_37 +1 known splice_site c.6834+1 e44+1 1.000 - - - no_errors NBEAL1 HGNC ENSG00000144426 104 0 0 86 22 20.3704 NPPC 0 genome.wustl.edu 37 2 232790333 232790333 + Silent SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 2 232790333 232790333 G A SNP NPPC ENST00000295440 human ensembl 74_37 -1 known silent c.183 p.G61 0.917 NULL pfam_Natr_peptide,smart_Natr_peptide,prints_C_natriurtcpep,prints_Natriuretic_peptide_brain,prints_Natr_peptide,prints_Natriuretic_peptide_atrial - no_errors NPPC HGNC ENSG00000163273 18 0 0 7 11 61.1111 COL6A3 0 genome.wustl.edu 37 2 238283448 238283448 + Missense_Mutation SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 2 238283448 238283448 G A SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.3286 p.R1096C 0.934 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 78 0 0 80 5 5.88235 ADCY3 0 genome.wustl.edu 37 2 25141312 25141312 + Missense_Mutation SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 2 25141312 25141312 G A SNP ADCY3 ENST00000260600 human ensembl 74_37 -1 known missense c.545 p.T182M 1.000 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY3 HGNC ENSG00000138031 78 0 0 69 21 23.3333 ALMS1 0 genome.wustl.edu 37 2 73716933 73716933 + Missense_Mutation SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 2 73716933 73716933 G A SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known missense c.7844 p.R2615Q 0.001 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 87 0 0 79 26 24.7619 REM1 0 genome.wustl.edu 37 20 30064401 30064401 + Silent SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 20 30064401 30064401 C T SNP REM1 ENST00000201979 human ensembl 74_37 +1 known silent c.153 p.S51 1.000 pirsf_Small_GTPase_GEM/REM/Rad pirsf_Small_GTPase_GEM/REM/Rad,pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors REM1 HGNC ENSG00000088320 121 0 0 82 15 15.4639 LZTS3 0 genome.wustl.edu 37 20 3146889 3146889 + Missense_Mutation SNP G G C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 20 3146889 3146889 G C SNP LZTS3 ENST00000329152 human ensembl 74_37 -1 known missense c.577 p.P193A 1.000 NULL NULL - no_errors LZTS3 Uniprot_gn ENSG00000088899 31 0 0 22 6 21.4286 KCNG1 0 genome.wustl.edu 37 20 49626407 49626407 + Missense_Mutation SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 20 49626407 49626407 C T SNP KCNG1 ENST00000371571 human ensembl 74_37 -1 known missense c.469 p.A157T 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 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_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG1 HGNC ENSG00000026559 104 0 0 64 32 33.3333 CASS4 0 genome.wustl.edu 37 20 55027509 55027509 + Missense_Mutation SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 20 55027509 55027509 C T SNP CASS4 ENST00000360314 human ensembl 74_37 +1 known missense c.1277 p.S426L 0.009 NULL pfam_Serine_rich,pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors CASS4 HGNC ENSG00000087589 42 0 0 23 15 39.4737 C20orf196 0 genome.wustl.edu 37 20 5843951 5843951 + Missense_Mutation SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 20 5843951 5843951 C T SNP C20orf196 ENST00000303142 human ensembl 74_37 +1 known missense c.460 p.R154W 0.997 NULL NULL - no_errors C20orf196 HGNC ENSG00000171984 89 0 0 57 17 22.973 BRWD1 0 genome.wustl.edu 37 21 40571563 40571563 + Silent SNP A A G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 21 40571563 40571563 A G SNP BRWD1 ENST00000333229 human ensembl 74_37 -1 known silent c.4779 p.C1593 0.015 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD1 HGNC ENSG00000185658 78 0 0 57 5 8.06452 ARVCF 0 genome.wustl.edu 37 22 19960533 19960533 + Missense_Mutation SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 22 19960533 19960533 G A SNP ARVCF ENST00000263207 human ensembl 74_37 -1 known missense c.2465 p.A822V 0.993 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARVCF HGNC ENSG00000099889 138 0 0 61 5 7.57576 TOM1 0 genome.wustl.edu 37 22 35743071 35743071 + Missense_Mutation SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 22 35743071 35743071 C T SNP TOM1 ENST00000411850 human ensembl 74_37 +1 known missense c.1351 p.R451W 1.000 pirsf_TOM1 pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS - no_errors TOM1 HGNC ENSG00000100284 94 0 0 16 39 70.9091 APOL2 0 genome.wustl.edu 37 22 36624137 36624137 + Silent SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 22 36624137 36624137 G A SNP APOL2 ENST00000249066 human ensembl 74_37 -1 known silent c.327 p.V109 0.000 pfam_ApoL pfam_ApoL - no_errors APOL2 HGNC ENSG00000128335 138 0 0 66 34 34 ZBTB11 0 genome.wustl.edu 37 3 101390788 101390788 + Missense_Mutation SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 3 101390788 101390788 C T SNP ZBTB11 ENST00000461821 human ensembl 74_37 -1 putative missense c.580 p.V194I 0.018 NULL NULL - no_errors ZBTB11 HGNC ENSG00000066422 47 0 0 37 20 35.0877 KALRN 0 genome.wustl.edu 37 3 123813627 123813627 + RNA SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 3 123813627 123813627 G A SNP KALRN ENST00000477496 human ensembl 74_37 +1 known rna NULL NULL 0.959 - - - no_errors KALRN HGNC ENSG00000160145 39 0 0 11 10 47.619 ZIC4 0 genome.wustl.edu 37 3 147106601 147106601 + RNA SNP T T C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 3 147106601 147106601 T C SNP ZIC4 ENST00000472749 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ZIC4 HGNC ENSG00000174963 43 0 0 37 12 24.4898 BCHE 0 genome.wustl.edu 37 3 165503945 165503945 + Missense_Mutation SNP A A C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 3 165503945 165503945 A C SNP BCHE ENST00000264381 human ensembl 74_37 -1 known missense c.1672 p.L558V 1.000 NULL pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors BCHE HGNC ENSG00000114200 69 0 0 31 29 48.3333 ATP11B 0 genome.wustl.edu 37 3 182631761 182631761 + Missense_Mutation SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 3 182631761 182631761 G A SNP ATP11B ENST00000323116 human ensembl 74_37 +1 known missense c.3431 p.C1144Y 1.000 NULL 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 ATP11B HGNC ENSG00000058063 213 0 0 108 92 46 SCN5A 0 genome.wustl.edu 37 3 38651268 38651268 + Silent SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 3 38651268 38651268 G A SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known silent c.891 p.D297 0.001 pfam_Ion_trans_dom,prints_Na_channel_a5su pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 95 0 0 47 13 21.6667 SCN10A 0 genome.wustl.edu 37 3 38783917 38783917 + Missense_Mutation SNP A A C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 3 38783917 38783917 A C SNP SCN10A ENST00000449082 human ensembl 74_37 -1 known missense c.1971 p.I657M 0.008 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 146 0 0 41 60 59.4059 GRM2 0 genome.wustl.edu 37 3 51746690 51746690 + Missense_Mutation SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 3 51746690 51746690 G A SNP GRM2 ENST00000395052 human ensembl 74_37 +1 known missense c.652 p.E218K 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_GABA_rcpt_B - no_errors GRM2 HGNC ENSG00000164082 88 0 0 68 22 24.4444 PPP4R2 0 genome.wustl.edu 37 3 73108206 73108206 + Missense_Mutation SNP G G T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 3 73108206 73108206 G T SNP PPP4R2 ENST00000356692 human ensembl 74_37 +1 known missense c.306 p.Q102H 1.000 pfam_PPP4R2 pfam_PPP4R2 - no_errors PPP4R2 HGNC ENSG00000163605 44 0 0 15 17 53.125 CNTN3 0 genome.wustl.edu 37 3 74411082 74411082 + Silent SNP A A C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 3 74411082 74411082 A C SNP CNTN3 ENST00000263665 human ensembl 74_37 -1 known silent c.1323 p.S441 0.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN3 HGNC ENSG00000113805 101 0 0 59 18 23.3766 ROBO1 0 genome.wustl.edu 37 3 78649331 78649331 + Silent SNP T T G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 3 78649331 78649331 T G SNP ROBO1 ENST00000464233 human ensembl 74_37 -1 known silent c.4873 p.R1625 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO1 HGNC ENSG00000169855 53 0 0 22 28 56 MAEA 0 genome.wustl.edu 37 4 1316182 1316182 + Missense_Mutation SNP T T C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 4 1316182 1316182 T C SNP MAEA ENST00000303400 human ensembl 74_37 +1 known missense c.470 p.I157T 1.000 NULL smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors MAEA HGNC ENSG00000090316 185 0 0 166 98 37.1212 TTC29 0 genome.wustl.edu 37 4 147724808 147724808 + Missense_Mutation SNP A A C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 4 147724808 147724808 A C SNP TTC29 ENST00000398886 human ensembl 74_37 -1 known missense c.1209 p.F403L 0.969 smart_TPR_repeat,pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC29 HGNC ENSG00000137473 23 0 0 2 11 84.6154 TRIML2 0 genome.wustl.edu 37 4 189012589 189012589 + Missense_Mutation SNP T T G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 4 189012589 189012589 T G SNP TRIML2 ENST00000512729 human ensembl 74_37 -1 known missense c.1102 p.S368R 0.002 superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors TRIML2 HGNC ENSG00000179046 139 0 0 19 83 81.3725 ADAMTS3 0 genome.wustl.edu 37 4 73148877 73148877 + Silent SNP T T G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 4 73148877 73148877 T G SNP ADAMTS3 ENST00000286657 human ensembl 74_37 -1 known silent c.3594 p.T1198 0.005 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS3 HGNC ENSG00000156140 122 0 0 84 23 21.4953 PSAPL1 0 genome.wustl.edu 37 4 7436039 7436039 + Nonsense_Mutation SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 4 7436039 7436039 G A SNP PSAPL1 ENST00000319098 human ensembl 74_37 -1 known nonsense c.568 p.Q190* 0.083 pirsf_Saposin_chordata,superfamily_Saposin-like,smart_SaposinB,pfscan_SaposinB pirsf_Saposin_chordata,pfam_SapA,pfam_SapB_1,pfam_SapB_2,superfamily_Saposin-like,smart_SapA,smart_SaposinB,prints_Saposin,pfscan_SapA,pfscan_SaposinB - no_errors PSAPL1 HGNC ENSG00000178597 26 0 0 13 7 35 MMRN1 0 genome.wustl.edu 37 4 90849051 90849051 + Missense_Mutation SNP A A C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 4 90849051 90849051 A C SNP MMRN1 ENST00000264790 human ensembl 74_37 +1 known missense c.1061 p.N354T 0.000 NULL pfam_C1q,pfam_EMI_domain,pfam_EG-like_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MMRN1 HGNC ENSG00000138722 119 0 0 54 34 38.6364 PCDHB10 0 genome.wustl.edu 37 5 140572774 140572774 + Missense_Mutation SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 5 140572774 140572774 G A SNP PCDHB10 ENST00000239446 human ensembl 74_37 +1 known missense c.649 p.G217S 1.000 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 PCDHB10 HGNC ENSG00000120324 194 0 0 22 74 77.0833 MYO10 0 genome.wustl.edu 37 5 16701398 16701398 + Missense_Mutation SNP T T G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 5 16701398 16701398 T G SNP MYO10 ENST00000513610 human ensembl 74_37 -1 known missense c.3106 p.M1036L 1.000 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_P-loop_NTPase,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 41 0 0 32 13 28.8889 CDH18 0 genome.wustl.edu 37 5 19503122 19503122 + Missense_Mutation SNP A A C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 5 19503122 19503122 A C SNP CDH18 ENST00000274170 human ensembl 74_37 -1 known missense c.1609 p.F537V 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 CDH18 HGNC ENSG00000145526 81 0 0 33 31 48.4375 ADAMTS12 0 genome.wustl.edu 37 5 33891855 33891855 + Missense_Mutation SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 5 33891855 33891855 C T SNP ADAMTS12 ENST00000504830 human ensembl 74_37 -1 known missense c.107 p.R36H 0.001 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 222 0 0 131 35 21.0843 SPEF2 0 genome.wustl.edu 37 5 35807336 35807336 + Missense_Mutation SNP A A G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 5 35807336 35807336 A G SNP SPEF2 ENST00000356031 human ensembl 74_37 +1 known missense c.5360 p.Y1787C 0.787 pfam_HATC_dom_C pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 142 0 0 60 67 52.7559 C5orf42 0 genome.wustl.edu 37 5 37198821 37198821 + Silent SNP T T G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 5 37198821 37198821 T G SNP C5orf42 ENST00000425232 human ensembl 74_37 -1 known silent c.3655 p.R1219 0.991 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 114 0 0 91 24 20.8696 MRPS36 0 genome.wustl.edu 37 5 68513626 68513626 + RNA SNP G G C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 5 68513626 68513626 G C SNP MRPS36 ENST00000507022 human ensembl 74_37 +1 known rna NULL NULL 0.820 - - - no_errors MRPS36 HGNC ENSG00000134056 57 0 0 2 28 93.3333 IGF2R 0 genome.wustl.edu 37 6 160485874 160485874 + Missense_Mutation SNP G G C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 6 160485874 160485874 G C SNP IGF2R ENST00000356956 human ensembl 74_37 +1 known missense c.4056 p.L1352F 1.000 pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 68 0 0 43 24 35.8209 PPP1R18 0 genome.wustl.edu 37 6 30652350 30652350 + Silent SNP A A C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 6 30652350 30652350 A C SNP PPP1R18 ENST00000274853 human ensembl 74_37 -1 known silent c.1446 p.P482 0.973 NULL NULL - no_errors PPP1R18 HGNC ENSG00000146112 24 0 0 13 14 51.8519 EHMT2-AS1 0 genome.wustl.edu 37 6 31851773 31851773 + RNA SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 6 31851773 31851773 G A SNP EHMT2-AS1 ENST00000434689 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors EHMT2-AS1 HGNC ENSG00000237080 20 0 0 14 6 30 DNAH8 0 genome.wustl.edu 37 6 38834386 38834386 + Missense_Mutation SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 6 38834386 38834386 G A SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.5867 p.R1956H 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase 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 DNAH8 HGNC ENSG00000124721 41 0 0 31 13 29.5455 DAAM2 0 genome.wustl.edu 37 6 39824229 39824229 + Missense_Mutation SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 6 39824229 39824229 C T SNP DAAM2 ENST00000274867 human ensembl 74_37 +1 known missense c.151 p.R51C 0.991 pfam_GTPase-bd,superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DAAM2 HGNC ENSG00000146122 9 0 0 2 2 50 IRF4 0 genome.wustl.edu 37 6 401485 401485 + Silent SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 6 401485 401485 C T SNP IRF4 ENST00000380956 human ensembl 74_37 +1 known silent c.807 p.S269 0.018 pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF4 HGNC ENSG00000137265 87 0 0 33 32 49.2308 HTR1E 0 genome.wustl.edu 37 6 87725376 87725376 + Nonsense_Mutation SNP C C A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 6 87725376 87725376 C A SNP HTR1E ENST00000305344 human ensembl 74_37 +1 known nonsense c.324 p.C108* 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR1E HGNC ENSG00000168830 113 0 0 47 55 53.9216 SRSF12 0 genome.wustl.edu 37 6 89816961 89816961 + Missense_Mutation SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 6 89816961 89816961 G A SNP SRSF12 ENST00000452027 human ensembl 74_37 -1 known missense c.82 p.R28C 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF12 HGNC ENSG00000154548 85 0 0 31 31 50 PCOLCE 0 genome.wustl.edu 37 7 100204069 100204069 + Silent SNP C C A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 7 100204069 100204069 C A SNP PCOLCE ENST00000223061 human ensembl 74_37 +1 known silent c.756 p.L252 0.781 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Netrin_module_non-TIMP,superfamily_CUB_dom,superfamily_TIMP-like_OB-fold,smart_CUB_dom,smart_Netrin_module_non-TIMP,pfscan_CUB_dom,pfscan_Netrin_domain - no_errors PCOLCE HGNC ENSG00000106333 54 0 0 60 17 22.0779 CUX1 0 genome.wustl.edu 37 7 101813812 101813812 + Missense_Mutation SNP C C G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 7 101813812 101813812 C G SNP CUX1 ENST00000360264 human ensembl 74_37 +1 known missense c.843 p.I281M 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX1 HGNC ENSG00000257923 15 0 0 5 5 50 SLC26A4 0 genome.wustl.edu 37 7 107341590 107341590 + Silent SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 7 107341590 107341590 G A SNP SLC26A4 ENST00000265715 human ensembl 74_37 +1 known silent c.1752 p.A584 0.194 pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A4 HGNC ENSG00000091137 67 0 0 8 36 81.8182 PHF14 0 genome.wustl.edu 37 7 11013933 11013933 + RNA SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 7 11013933 11013933 C T SNP PHF14 ENST00000476009 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PHF14 HGNC ENSG00000106443 8 0 0 12 4 25 PPP1R3A 0 genome.wustl.edu 37 7 113519745 113519745 + Missense_Mutation SNP T T C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 7 113519745 113519745 T C SNP PPP1R3A ENST00000284601 human ensembl 74_37 -1 known missense c.1402 p.K468E 0.000 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 71 0 0 17 39 69.6429 KCND2 0 genome.wustl.edu 37 7 119915642 119915642 + Missense_Mutation SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 7 119915642 119915642 G A SNP KCND2 ENST00000331113 human ensembl 74_37 +1 known missense c.956 p.S319N 1.000 pfam_Ion_trans_dom,prints_K_chnl,prints_K_chnl_volt-dep_Kv4 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 109 0 0 8 55 87.3016 FLNC 0 genome.wustl.edu 37 7 128494716 128494716 + Missense_Mutation SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 7 128494716 128494716 G A SNP FLNC ENST00000325888 human ensembl 74_37 +1 known missense c.6977 p.R2326Q 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 35 0 0 8 10 55.5556 GPNMB 0 genome.wustl.edu 37 7 23313914 23313914 + RNA SNP C C A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 7 23313914 23313914 C A SNP GPNMB ENST00000478451 human ensembl 74_37 +1 putative rna NULL NULL 0.006 - - - no_errors GPNMB HGNC ENSG00000136235 42 0 0 37 12 24.4898 GPNMB 0 genome.wustl.edu 37 7 23313940 23313940 + RNA SNP A A T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 7 23313940 23313940 A T SNP GPNMB ENST00000478451 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors GPNMB HGNC ENSG00000136235 33 0 0 22 10 31.25 SDK1 0 genome.wustl.edu 37 7 4014046 4014046 + Silent SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 7 4014046 4014046 G A SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known silent c.1863 p.T621 0.280 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 65 0 0 30 31 50.8197 ABCA13 0 genome.wustl.edu 37 7 48654929 48654929 + Silent SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 7 48654929 48654929 C T SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known silent c.14793 p.N4931 0.001 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 15 0 0 3 4 57.1429 ZNF727 0 genome.wustl.edu 37 7 63538390 63538390 + Missense_Mutation SNP T T A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 7 63538390 63538390 T A SNP ZNF727 ENST00000550760 human ensembl 74_37 +1 known missense c.963 p.F321L 0.059 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 ZNF727 HGNC ENSG00000257482 19 0 0 10 7 41.1765 MAGI2 0 genome.wustl.edu 37 7 77885499 77885499 + Missense_Mutation SNP A A G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 7 77885499 77885499 A G SNP MAGI2 ENST00000354212 human ensembl 74_37 -1 known missense c.1808 p.L603P 1.000 superfamily_PDZ pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI2 HGNC ENSG00000187391 49 0 0 33 25 43.1034 PCLO 0 genome.wustl.edu 37 7 82582248 82582248 + Missense_Mutation SNP A A G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 7 82582248 82582248 A G SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.8021 p.V2674A 0.768 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 65 0 0 49 26 34.6667 PCLO 0 genome.wustl.edu 37 7 82584865 82584865 + Missense_Mutation SNP T T C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 7 82584865 82584865 T C SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.5404 p.S1802G 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 120 0 0 85 82 49.1018 SAMD9L 0 genome.wustl.edu 37 7 92760645 92760645 + Missense_Mutation SNP G G T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 7 92760645 92760645 G T SNP SAMD9L ENST00000318238 human ensembl 74_37 -1 known missense c.4640 p.P1547Q 1.000 NULL superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM - no_errors SAMD9L HGNC ENSG00000177409 44 0 0 33 83 71.5517 DPYS 0 genome.wustl.edu 37 8 105436539 105436539 + Missense_Mutation SNP T T C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 8 105436539 105436539 T C SNP DPYS ENST00000351513 human ensembl 74_37 -1 known missense c.1171 p.R391G 1.000 pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYS HGNC ENSG00000147647 105 0 0 113 68 37.5691 ZFPM2 0 genome.wustl.edu 37 8 106813482 106813482 + Missense_Mutation SNP T T G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 8 106813482 106813482 T G SNP ZFPM2 ENST00000407775 human ensembl 74_37 +1 known missense c.1172 p.L391R 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 153 1 0.649351 415 48 10.3672 SYBU 0 genome.wustl.edu 37 8 110592127 110592127 + Missense_Mutation SNP T T G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 8 110592127 110592127 T G SNP SYBU ENST00000276646 human ensembl 74_37 -1 known missense c.635 p.Q212P 1.000 NULL NULL - no_errors SYBU HGNC ENSG00000147642 253 0 0 322 92 22.2222 CSMD3 0 genome.wustl.edu 37 8 113933891 113933891 + Missense_Mutation SNP A A C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 8 113933891 113933891 A C SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.1598 p.F533C 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 91 0 0 71 76 51.7007 TRPS1 0 genome.wustl.edu 37 8 116426893 116426893 + Missense_Mutation SNP T T C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 8 116426893 116426893 T C SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known missense c.3243 p.I1081M 0.761 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 182 0 0 197 126 39.0093 WRN 0 genome.wustl.edu 37 8 30938648 30938648 + Nonsense_Mutation SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 8 30938648 30938648 C T SNP WRN ENST00000298139 human ensembl 74_37 +1 known nonsense c.1105 p.R369* 0.000 NULL pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors WRN HGNC ENSG00000165392 84 0 0 8 16 66.6667 VCPIP1 0 genome.wustl.edu 37 8 67577705 67577705 + Missense_Mutation SNP T T C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 8 67577705 67577705 T C SNP VCPIP1 ENST00000310421 human ensembl 74_37 -1 known missense c.1489 p.S497G 1.000 NULL pfam_OTU,pfscan_OTU - no_errors VCPIP1 HGNC ENSG00000175073 218 0 0 199 244 55.079 PREX2 0 genome.wustl.edu 37 8 69104850 69104850 + RNA SNP A A C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 8 69104850 69104850 A C SNP PREX2 ENST00000522247 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PREX2 HGNC ENSG00000046889 10 0 0 10 9 47.3684 PRDM14 0 genome.wustl.edu 37 8 70981763 70981763 + Silent SNP C C A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 8 70981763 70981763 C A SNP PRDM14 ENST00000276594 human ensembl 74_37 -1 known silent c.333 p.V111 0.004 NULL pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM14 HGNC ENSG00000147596 44 0 0 40 12 23.0769 KCNB2 0 genome.wustl.edu 37 8 73480224 73480224 + Missense_Mutation SNP C C G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 8 73480224 73480224 C G SNP KCNB2 ENST00000523207 human ensembl 74_37 +1 known missense c.255 p.N85K 0.353 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv8 pfam_K_chnl_volt-dep_Kv2,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_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB2 HGNC ENSG00000182674 103 0 0 98 93 48.6911 CNBD1 0 genome.wustl.edu 37 8 88296940 88296940 + Missense_Mutation SNP T T G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 8 88296940 88296940 T G SNP CNBD1 ENST00000518476 human ensembl 74_37 +1 known missense c.806 p.V269G 0.000 superfamily_cNMP-bd-like pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors CNBD1 HGNC ENSG00000176571 21 0 0 9 23 71.875 MUSK 0 genome.wustl.edu 37 9 113550077 113550077 + Missense_Mutation SNP T T C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 9 113550077 113550077 T C SNP MUSK ENST00000374448 human ensembl 74_37 +1 known missense c.1886 p.L629P 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_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MUSK HGNC ENSG00000030304 27 0 0 21 19 47.5 SPTAN1 0 genome.wustl.edu 37 9 131329241 131329241 + Missense_Mutation SNP C C G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 9 131329241 131329241 C G SNP SPTAN1 ENST00000358161 human ensembl 74_37 +1 known missense c.222 p.D74E 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 95 0 0 58 29 33.3333 ABL1 0 genome.wustl.edu 37 9 133738348 133738348 + Missense_Mutation SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 9 133738348 133738348 G A SNP ABL1 ENST00000372348 human ensembl 74_37 +1 known missense c.805 p.G269R 0.999 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 92 0 0 47 37 44.0476 DBH 0 genome.wustl.edu 37 9 136501612 136501612 + Missense_Mutation SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 9 136501612 136501612 C T SNP DBH ENST00000393056 human ensembl 74_37 +1 known missense c.119 p.S40L 0.966 NULL pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase - no_errors DBH HGNC ENSG00000123454 64 0 0 51 24 32 TMEM215 0 genome.wustl.edu 37 9 32784496 32784496 + Silent SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 9 32784496 32784496 G A SNP TMEM215 ENST00000342743 human ensembl 74_37 +1 known silent c.315 p.K105 0.999 NULL NULL - no_errors TMEM215 HGNC ENSG00000188133 103 0 0 63 34 35.0515 PTPRD 0 genome.wustl.edu 37 9 8389280 8389280 + Silent SNP T T C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 9 8389280 8389280 T C SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known silent c.4338 p.Q1446 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,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,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 168 1 0.591716 109 98 47.343 FBP1 0 genome.wustl.edu 37 9 97369109 97369109 + Silent SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 9 97369109 97369109 C T SNP FBP1 ENST00000375326 human ensembl 74_37 -1 known silent c.693 p.K231 1.000 pfam_FBPase_class-1/SBPase,prints_FBPtase pfam_FBPase_class-1/SBPase,pfam_Inositol_monophosphatase,prints_FBPtase,prints_SBPase - no_errors FBP1 HGNC ENSG00000165140 50 0 0 27 17 38.6364 NRK 0 genome.wustl.edu 37 X 105190451 105190451 + Missense_Mutation SNP A A C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 X 105190451 105190451 A C SNP NRK ENST00000428173 human ensembl 74_37 +1 known missense c.4351 p.K1451Q 1.000 pfam_Citron,smart_Citron pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors NRK HGNC ENSG00000123572 52 0 0 11 67 85.8974 SPANXN3 0 genome.wustl.edu 37 X 142596856 142596856 + Missense_Mutation SNP G G T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 X 142596856 142596856 G T SNP SPANXN3 ENST00000370503 human ensembl 74_37 -1 known missense c.214 p.Q72K 0.000 pfam_SPANX_prot pfam_SPANX_prot - no_errors SPANXN3 HGNC ENSG00000189252 112 0 0 20 206 91.1504 AFF2 0 genome.wustl.edu 37 X 147743836 147743836 + Missense_Mutation SNP C C A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 X 147743836 147743836 C A SNP AFF2 ENST00000370460 human ensembl 74_37 +1 known missense c.588 p.F196L 0.994 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 151 0 0 15 278 94.8805 FLNA 0 genome.wustl.edu 37 X 153592921 153592921 + Silent SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 X 153592921 153592921 G A SNP FLNA ENST00000369850 human ensembl 74_37 -1 known silent c.1995 p.D665 0.000 superfamily_Ig_E-set,smart_Filamin pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 59 0 0 14 111 88.8 SCML2 0 genome.wustl.edu 37 X 18352182 18352182 + Missense_Mutation SNP T T G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 X 18352182 18352182 T G SNP SCML2 ENST00000251900 human ensembl 74_37 -1 known missense c.10 p.T4P 0.100 NULL pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SCML2 HGNC ENSG00000102098 40 0 0 2 13 86.6667 MAGEB4 0 genome.wustl.edu 37 X 30261268 30261268 + Missense_Mutation SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 X 30261268 30261268 C T SNP MAGEB4 ENST00000378982 human ensembl 74_37 +1 known missense c.1016 p.S339F 0.000 NULL pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB4 HGNC ENSG00000120289 38 0 0 3 17 85 XIST 0 genome.wustl.edu 37 X 73066439 73066439 + RNA SNP T T C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 X 73066439 73066439 T C SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 59 0 0 34 5 12.8205 MAGEE2 0 genome.wustl.edu 37 X 75004529 75004529 + Nonsense_Mutation SNP C C A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 X 75004529 75004529 C A SNP MAGEE2 ENST00000373359 human ensembl 74_37 -1 known nonsense c.358 p.E120* 0.764 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEE2 HGNC ENSG00000186675 24 0 0 26 4 13.3333 COX7B 0 genome.wustl.edu 37 X 77155029 77155029 + RNA SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 X 77155029 77155029 C T SNP COX7B ENST00000373335 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors COX7B HGNC ENSG00000131174 26 0 0 4 12 75 KLHL4 0 genome.wustl.edu 37 X 86877393 86877393 + Silent SNP T T G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 X 86877393 86877393 T G SNP KLHL4 ENST00000373114 human ensembl 74_37 +1 known silent c.1107 p.S369 0.979 pfam_BACK,smart_BACK pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL4 HGNC ENSG00000102271 68 0 0 11 82 88.172 NAP1L3 0 genome.wustl.edu 37 X 92927344 92927344 + Silent SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 X 92927344 92927344 C T SNP NAP1L3 ENST00000373079 human ensembl 74_37 -1 known silent c.960 p.K320 0.993 pfam_NAP_family pfam_NAP_family - no_errors NAP1L3 HGNC ENSG00000186310 61 0 0 10 61 85.9155 CUBN 0 genome.wustl.edu 37 10 17165609 17165610 + Frame_Shift_Ins INS - - A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 10 17165609 17165610 - A INS CUBN ENST00000377833 human ensembl 74_37 -1 known frame_shift_ins c.467_466 p.C156fs 1.000:1.000 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_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 43 0 0 35 10 22.2222 ANXA7 0 genome.wustl.edu 37 10 75135833 75135834 + RNA INS - - A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 10 75135833 75135834 - A INS ANXA7 ENST00000463788 human ensembl 74_37 -1 known rna NULL NULL 0.032:0.003 - - - no_errors ANXA7 HGNC ENSG00000138279 12 0 0 14 2 12.5 TIMM10B 0 genome.wustl.edu 37 11 6502755 6502757 + In_Frame_Del DEL GCA GCA - TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 GCA GCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 11 6502755 6502757 GCA - DEL TIMM10B ENST00000254616 human ensembl 74_37 +1 known in_frame_del c.9_11 p.Q7in_frame_del 1.000:1.000:0.998 pfam_Tim10/DDP_fam_Znf pfam_Tim10/DDP_fam_Znf,superfamily_Tim10/DDP_fam_Znf - no_errors TIMM10B HGNC ENSG00000132286 38 0 0 10 2 16.6667 ZNF267 0 genome.wustl.edu 37 16 31926651 31926652 + Frame_Shift_Ins INS - - T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 16 31926651 31926652 - T INS ZNF267 ENST00000300870 human ensembl 74_37 +1 known frame_shift_ins c.1081_1082 p.N362fs 0.000:0.000 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 ZNF267 HGNC ENSG00000185947 198 0 0 48 73 60.3306 KSR1 0 genome.wustl.edu 37 17 25924413 25924414 + Frame_Shift_Ins INS - - C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 17 25924413 25924414 - C INS KSR1 ENST00000319524 human ensembl 74_37 +1 known frame_shift_ins c.1419_1420 p.N475fs 0.449:1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors KSR1 HGNC ENSG00000141068 46 0 0 78 7 8.23529 CNOT3 0 genome.wustl.edu 37 19 54659088 54659090 + In_Frame_Del DEL GAA GAA - TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 19 54659088 54659090 GAA - DEL CNOT3 ENST00000221232 human ensembl 74_37 +1 known in_frame_del c.2205_2207 p.K737in_frame_del 1.000:1.000:1.000 pfam_NOT,pirsf_CCR4-NOT_su3/5 pfam_Not_N,pfam_NOT,pirsf_CCR4-NOT_su3/5 - no_errors CNOT3 HGNC ENSG00000088038 39 0 0 16 8 33.3333 RPL29 0 genome.wustl.edu 37 3 52027854 52027865 + In_Frame_Del DEL CCTTGGCCTTGG CCTTGGCCTTGG - TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 CCTTGGCCTTGG CCTTGGCCTTGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 3 52027854 52027865 CCTTGGCCTTGG - DEL RPL29 ENST00000294189 human ensembl 74_37 -1 known in_frame_del c.391_380 p.AKAK127in_frame_del 0.483:0.488:0.663:0.795:0.884:0.891:0.926:0.933:0.936:0.934:0.976:0.974 NULL pfam_Ribosomal_L29e - no_errors RPL29 HGNC ENSG00000162244 78 0 0 32 9 21.9512 NKAPL 0 genome.wustl.edu 37 6 28227881 28227882 + Frame_Shift_Ins INS - - A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 6 28227881 28227882 - A INS NKAPL ENST00000343684 human ensembl 74_37 +1 known frame_shift_ins c.732_733 p.E246fs 0.002:0.005 NULL pfam_DUF926 - no_errors NKAPL HGNC ENSG00000189134 25 0 0 18 13 41.9355 MIR4668 0 genome.wustl.edu 37 9 114694384 114694384 + RNA DEL A A - TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 9 114694384 114694384 A - DEL MIR4668 ENST00000582284 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MIR4668 HGNC ENSG00000266315 43 0 0 31 6 16.2162 SETX 0 genome.wustl.edu 37 9 135158547 135158548 + RNA INS - - A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 9 135158547 135158548 - A INS SETX ENST00000474172 human ensembl 74_37 -1 known rna NULL NULL 0.028:0.010 - - - no_errors SETX HGNC ENSG00000107290 23 0 0 24 4 14.2857 PTCH1 0 genome.wustl.edu 37 9 98278884 98278887 + RNA DEL CTTC CTTC - TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 CTTC CTTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 9 98278884 98278887 CTTC - DEL PTCH1 ENST00000551425 human ensembl 74_37 -1 known rna NULL NULL 0.913:0.910:0.906:0.895 - - - no_errors PTCH1 HGNC ENSG00000185920 25 0 0 17 12 41.3793 FRMPD3 0 genome.wustl.edu 37 X 106841057 106841059 + In_Frame_Del DEL GAG GAG - TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 X 106841057 106841059 GAG - DEL FRMPD3 ENST00000276185 human ensembl 74_37 +1 known in_frame_del c.2047_2049 p.E686in_frame_del 1.000:1.000:1.000 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD3 HGNC ENSG00000147234 13 0 0 6 2 25