#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
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	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Start_position_hg18	i_TranscriptID	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
CUL1	8454	hgsc.bcm.edu	37	7	148494907	148494908	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr7:148494907_148494908insT	ENST00000325222.4	+	18	2182_2183	c.1903_1904insT	c.(1903-1905)attfs	p.I635fs	CUL1_ENST00000602748.1_Frame_Shift_Ins_p.I635fs|CUL1_ENST00000409469.1_Frame_Shift_Ins_p.I635fs	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	635					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)		p.L636fs*19(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			ATTGCAGGACATTTTGGCGCAA	0.366																																					p.I635fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1903_1904insT	7						.																																			148125841	SO:0001589	frameshift_variant	8454	exon18			U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.1907dupT	7.37:g.148494911_148494911dupT	ENSP00000326804:p.Ile635fs	Somatic		Capture	SOLID	Phase_I	148125840	NM_003592	D3DWG3|O60719|Q08AL6|Q8IYW1	Frame_Shift_Ins	INS	ENST00000325222.4	37	CCDS34772.1																																																																																				0.366	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592	
KIR3DL1	3811	hgsc.bcm.edu	37	19	55294468	55294469	+	Intron	INS	-	-	A	rs375594476		TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr19:55294468_55294469insA	ENST00000538269.1	+	2	61				CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL1_ENST00000336077.6_Frame_Shift_Ins_p.K271fs|KIR2DL1_ENST00000291633.7_Frame_Shift_Ins_p.K297fs|KIR2DL3_ENST00000434419.2_Frame_Shift_Ins_p.K271fs			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.N273fs*17(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		GGTGCTCCAACAAAAAAAGTAA	0.52																																					p.N270fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.810_811insA	19						.																																			59986281	SO:0001627	intron_variant	3802	exon6			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-34520->A	19.37:g.55294475_55294475dupA		Somatic		Capture	SOLID	Phase_I	59986280	NM_014218	O43473|Q14946|Q16541	Frame_Shift_Ins	INS	ENST00000538269.1	37																																																																																					0.520	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289	
SLC9A9	285195	hgsc.bcm.edu	37	3	143292979	143292980	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr3:143292979_143292980insA	ENST00000316549.6	-	8	1158_1159	c.950_951insT	c.(949-951)ttcfs	p.F317fs		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	317					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)	p.L318fs*45(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						AAGAAAGCAGGAAAAACAGGCC	0.495																																					p.F317fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.951_952insT	3						.																																			144775670	SO:0001589	frameshift_variant	285195	exon8			AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.951dupT	3.37:g.143292984_143292984dupA	ENSP00000320246:p.Phe317fs	Somatic		Capture	SOLID	Phase_I	144775669	NM_173653	A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Frame_Shift_Ins	INS	ENST00000316549.6	37	CCDS33872.1																																																																																				0.495	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653	
IFT80	57560	hgsc.bcm.edu	37	3	159997016	159997017	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr3:159997016_159997017insT	ENST00000326448.7	-	16	2232_2233	c.1800_1801insA	c.(1798-1803)aaatggfs	p.W601fs	IFT80_ENST00000483465.1_Frame_Shift_Ins_p.W464fs|IFT80_ENST00000496589.1_Frame_Shift_Ins_p.W464fs|RP11-432B6.3_ENST00000483754.1_Frame_Shift_Ins_p.W772fs	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	601					bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)		p.W601fs*12(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GCATCTTCCCATTTTGAACTGC	0.347																																					p.W464fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1390_1391insA	3						.																																			161479711	SO:0001589	frameshift_variant	57560	exon15			AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29262	protein-coding gene	gene with protein product		611177	"""WD repeat domain 56"", ""intraflagellar transport 80 homolog (Chlamydomonas)"""	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.1801dupA	3.37:g.159997020_159997020dupT	ENSP00000312778:p.Trp601fs	Somatic		Capture	SOLID	Phase_I	161479710	NM_001190242	B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Frame_Shift_Ins	INS	ENST00000326448.7	37	CCDS3188.1																																																																																				0.347	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352651.2	NM_020800	
SEC31A	22872	hgsc.bcm.edu	37	4	83788319	83788320	+	Frame_Shift_Ins	INS	-	-	T	rs142883890	byFrequency	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr4:83788319_83788320insT	ENST00000395310.2	-	9	1214_1215	c.1032_1033insA	c.(1030-1035)aaacaafs	p.Q345fs	SEC31A_ENST00000505472.1_Frame_Shift_Ins_p.Q345fs|SEC31A_ENST00000311785.7_Frame_Shift_Ins_p.Q345fs|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000432794.1_Frame_Shift_Ins_p.Q345fs|SEC31A_ENST00000448323.1_Frame_Shift_Ins_p.Q345fs|SEC31A_ENST00000500777.2_Frame_Shift_Ins_p.Q345fs|SEC31A_ENST00000264405.5_Frame_Shift_Ins_p.Q117fs|SEC31A_ENST00000508479.1_Frame_Shift_Ins_p.Q345fs|SEC31A_ENST00000508502.1_Frame_Shift_Ins_p.Q345fs|SEC31A_ENST00000513858.1_Frame_Shift_Ins_p.Q345fs|SEC31A_ENST00000326950.5_Frame_Shift_Ins_p.Q345fs|SEC31A_ENST00000509142.1_Frame_Shift_Ins_p.Q345fs|SEC31A_ENST00000505984.1_Frame_Shift_Ins_p.Q345fs|SEC31A_ENST00000348405.4_Frame_Shift_Ins_p.Q345fs|SEC31A_ENST00000443462.2_Frame_Shift_Ins_p.Q340fs|SEC31A_ENST00000355196.2_Frame_Shift_Ins_p.Q345fs	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	345	Interaction with SEC13.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)	p.Q345fs*3(2)	SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TTGTCAACTTGTTTCTGTCTTA	0.366																																					p.Q345fs												.	.	2	Insertion - Frameshift(2)	large_intestine(2)	c.1033_1034insA	4						.																																			84007344	SO:0001589	frameshift_variant	22872	exon9			AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.1033dupA	4.37:g.83788322_83788322dupT	ENSP00000378721:p.Gln345fs	Somatic		Capture	SOLID	Phase_I	84007343	NM_001077207	B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Frame_Shift_Ins	INS	ENST00000395310.2	37	CCDS3596.1																																																																																				0.366	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211	
SLC12A9	56996	hgsc.bcm.edu	37	7	100454655	100454655	+	Missense_Mutation	SNP	C	C	T	rs199624213		TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr7:100454655C>T	ENST00000354161.3	+	5	739	c.614C>T	c.(613-615)gCc>gTc	p.A205V	SLC12A9_ENST00000415287.1_Missense_Mutation_p.A116V|SLC12A9_ENST00000428758.1_Missense_Mutation_p.A205V|SLC12A9_ENST00000540482.1_Missense_Mutation_p.A205V|SLC12A9_ENST00000275729.3_Missense_Mutation_p.A116V	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	205					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)	p.A205V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGCTCCCTGGCCTCTGTGCTC	0.662													C|||	1	0.000199681	0.0	0.0	5008	,	,		16930	0.001		0.0	False		,,,				2504	0.0				p.A205V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C614T	7						.						113.0	91.0	98.0					7																	100454655		2203	4300	6503	100292591	SO:0001583	missense	56996	exon5			AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.614C>T	7.37:g.100454655C>T	ENSP00000275730:p.Ala205Val	Somatic		Capture	SOLID	Phase_I	100292591	NM_020246	B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Missense_Mutation	SNP	ENST00000354161.3	37	CCDS5707.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	4.026	0.002272	0.07819	.	.	ENSG00000146828	ENST00000540482;ENST00000428758;ENST00000275729;ENST00000415287;ENST00000354161	D;D;D;D;D	0.98313	-4.86;-4.86;-4.86;-4.86;-4.86	4.62	3.71	0.42584	Amino acid permease domain (1);	0.330076	0.29438	N	0.012151	D	0.91650	0.7361	N	0.03999	-0.3	0.31414	N	0.675137	B;B	0.12630	0.006;0.003	B;B	0.16722	0.015;0.016	D	0.86653	0.1899	10	0.15952	T	0.53	.	6.3644	0.21447	0.0:0.7096:0.1891:0.1014	.	116;205	Q9BXP2-2;Q9BXP2	.;S12A9_HUMAN	V	205;205;116;116;205	ENSP00000443702:A205V;ENSP00000408301:A205V;ENSP00000275729:A116V;ENSP00000413796:A116V;ENSP00000275730:A205V	ENSP00000275729:A116V	A	+	2	0	SLC12A9	100292591	1.000000	0.71417	0.998000	0.56505	0.069000	0.16628	1.366000	0.34193	0.885000	0.36088	0.462000	0.41574	GCC		0.662	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246	
KCND2	3751	hgsc.bcm.edu	37	7	120385963	120385963	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr7:120385963C>T	ENST00000331113.4	+	5	2562	c.1597C>T	c.(1597-1599)Cga>Tga	p.R533*	RP4-797C5.2_ENST00000450480.1_RNA	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	533					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.R533*(2)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CTGTTCACGACGACACAAAAA	0.448																																					p.R533X												KCND2,central_nervous_system,brain,Substitution - Nonsense,0	.	2	Substitution - Nonsense(2)	large_intestine(1)|central_nervous_system(1)	c.C1597T	7						.						150.0	123.0	132.0					7																	120385963		2203	4300	6503	120173199	SO:0001587	stop_gained	3751	exon5			AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.1597C>T	7.37:g.120385963C>T	ENSP00000333496:p.Arg533*	Somatic		Capture	SOLID	Phase_I	120173199	NM_012281	O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Nonsense_Mutation	SNP	ENST00000331113.4	37	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.582337	0.65992	.	.	ENSG00000184408	ENST00000331113	.	.	.	6.06	0.749	0.18381	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8473	0.92212	0.7067:0.2933:0.0:0.0	.	.	.	.	X	533	.	.	R	+	1	2	KCND2	120173199	0.012000	0.17670	0.942000	0.38095	0.975000	0.68041	0.143000	0.16115	0.107000	0.17824	-0.791000	0.03333	CGA		0.448	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281	
LRGUK	136332	hgsc.bcm.edu	37	7	133812220	133812220	+	Missense_Mutation	SNP	G	G	T	rs112091184	byFrequency	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr7:133812220G>T	ENST00000285928.2	+	1	169	c.100G>T	c.(100-102)Gca>Tca	p.A34S	LRGUK_ENST00000473068.1_3'UTR	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	34						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)	p.A34S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						ACAGTTTCGCGCAGAAAAAGA	0.582																																					p.A34S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G100T	7						.						99.0	96.0	97.0					7																	133812220		2203	4300	6503	133462760	SO:0001583	missense	136332	exon1			AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.100G>T	7.37:g.133812220G>T	ENSP00000285928:p.Ala34Ser	Somatic		Capture	SOLID	Phase_I	133462760	NM_144648	Q2M3I1	Missense_Mutation	SNP	ENST00000285928.2	37	CCDS5830.1	.	.	.	.	.	.	.	.	.	.	G	0.410	-0.913906	0.02415	.	.	ENSG00000155530	ENST00000285928	T	0.34472	1.36	3.56	-5.72	0.02406	.	1.555020	0.03874	N	0.276153	T	0.06280	0.0162	N	0.00347	-1.61	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20907	-1.0261	10	0.02654	T	1	.	0.2236	0.00171	0.2929:0.2234:0.2678:0.2158	.	34	Q96M69	LRGUK_HUMAN	S	34	ENSP00000285928:A34S	ENSP00000285928:A34S	A	+	1	0	LRGUK	133462760	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.738000	0.04871	-1.206000	0.02641	-1.150000	0.01838	GCA		0.582	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648	
BRAF	673	hgsc.bcm.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												p.V600E	Colon(40;35 892 2973 5743 27438)		Dom	yes		7	7q34	673	v-raf murine sarcoma viral oncogene homolog B1	yes	E	BRAF,pituitary,NS,Substitution - Missense,0	.	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	c.T1799A	7						.						112.0	104.0	107.0					7																	140453136		2203	4300	6503	140099605	SO:0001583	missense	673	exon15	Familial Cancer Database	CFC, CFCS	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu	Somatic		Capture	SOLID	Phase_I	140099605	NM_004333	A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333	
SKAP2	8935	hgsc.bcm.edu	37	7	26766511	26766511	+	Missense_Mutation	SNP	C	C	T	rs199985669		TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr7:26766511C>T	ENST00000345317.2	-	7	897	c.584G>A	c.(583-585)cGt>cAt	p.R195H	SKAP2_ENST00000489977.1_5'UTR|SKAP2_ENST00000539623.1_Missense_Mutation_p.R23H	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	195	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				B cell activation (GO:0042113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.R195H(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						CTGATATATACGTTTATCAGG	0.303													C|||	1	0.000199681	0.0	0.0	5008	,	,		16406	0.001		0.0	False		,,,				2504	0.0				p.R195H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G584A	7						.						93.0	86.0	88.0					7																	26766511		2202	4299	6501	26733036	SO:0001583	missense	8935	exon7				CCDS5400.1	7p15.2	2013-01-10	2006-09-28	2006-09-28	ENSG00000005020	ENSG00000005020		"""Pleckstrin homology (PH) domain containing"""	15687	protein-coding gene	gene with protein product		605215	"""src family associated phosphoprotein 2"""	SCAP2		9837776, 9755858	Standard	NM_003930		Approved	RA70, SKAP-HOM, SKAP55R, SAPS	uc003syc.3	O75563	OTTHUMG00000023495	ENST00000345317.2:c.584G>A	7.37:g.26766511C>T	ENSP00000005587:p.Arg195His	Somatic		Capture	SOLID	Phase_I	26733036	NM_003930	A4D173|Q53GP6|Q75MK6|Q75MZ4|Q9UBZ3|Q9UED8	Missense_Mutation	SNP	ENST00000345317.2	37	CCDS5400.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	23.1	4.377223	0.82682	.	.	ENSG00000005020	ENST00000345317;ENST00000539623;ENST00000535331	T;T	0.17691	2.26;2.26	5.71	5.71	0.89125	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.51924	0.1703	M	0.88310	2.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.58188	-0.7680	10	0.66056	D	0.02	-16.3262	19.921	0.97085	0.0:1.0:0.0:0.0	.	180;195	B7Z5N4;O75563	.;SKAP2_HUMAN	H	195;23;180	ENSP00000005587:R195H;ENSP00000443593:R23H	ENSP00000005587:R195H	R	-	2	0	SKAP2	26733036	1.000000	0.71417	0.978000	0.43139	0.992000	0.81027	7.484000	0.81180	2.712000	0.92718	0.644000	0.83932	CGT		0.303	SKAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214128.1		
BMPER	168667	hgsc.bcm.edu	37	7	34097738	34097738	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr7:34097738G>A	ENST00000297161.2	+	11	1369	c.995G>A	c.(994-996)cGc>cAc	p.R332H	BMPER_ENST00000426693.1_Missense_Mutation_p.R332H	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	332	VWFC 5. {ECO:0000255|PROSITE- ProRule:PRU00220}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)		p.R332H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						ACGGAGTGTCGCAATAAGCAG	0.493																																					p.R332H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G995A	7						.						280.0	210.0	234.0					7																	34097738		2203	4300	6503	34064263	SO:0001583	missense	168667	exon10				CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.995G>A	7.37:g.34097738G>A	ENSP00000297161:p.Arg332His	Somatic		Capture	SOLID	Phase_I	34064263	NM_133468	A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.766146	0.49574	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.72615	-0.67;-0.67	5.63	0.752	0.18398	von Willebrand factor, type C (4);	0.235946	0.45606	D	0.000346	T	0.55970	0.1954	L	0.33293	1	0.45477	D	0.998448	B	0.18166	0.026	B	0.12156	0.007	T	0.48139	-0.9061	10	0.44086	T	0.13	.	10.6665	0.45734	0.3263:0.0:0.6737:0.0	.	332	Q8N8U9	BMPER_HUMAN	H	332	ENSP00000297161:R332H;ENSP00000393950:R332H	ENSP00000297161:R332H	R	+	2	0	BMPER	34064263	1.000000	0.71417	0.983000	0.44433	0.974000	0.67602	2.282000	0.43461	0.140000	0.18849	-0.136000	0.14681	CGC		0.493	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468	
PKD1L1	168507	hgsc.bcm.edu	37	7	47849110	47849110	+	Silent	SNP	G	G	A	rs528480289		TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr7:47849110G>A	ENST00000289672.2	-	51	7697	c.7647C>T	c.(7645-7647)ggC>ggT	p.G2549G	C7orf69_ENST00000418326.2_Intron|PKD1L1_ENST00000462350.1_5'UTR|C7orf69_ENST00000258776.4_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2549					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.G2549G(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AGCTGAGGACGCCCTTGTCCA	0.438																																					p.G2549G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C7647T	7						.						51.0	44.0	47.0					7																	47849110		2203	4300	6503	47815635	SO:0001819	synonymous_variant	168507	exon51			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.7647C>T	7.37:g.47849110G>A		Somatic		Capture	SOLID	Phase_I	47815635	NM_138295	Q6UWK1	Silent	SNP	ENST00000289672.2	37	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	G	0.029	-1.348153	0.01266	.	.	ENSG00000158683	ENST00000433506	.	.	.	5.06	-10.1	0.00402	.	.	.	.	.	T	0.24392	0.0591	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.21690	-1.0238	4	.	.	.	-22.4369	8.5871	0.33664	0.552:0.0:0.2809:0.1672	.	.	.	.	C	140	.	.	R	-	1	0	PKD1L1	47815635	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.108000	0.01336	-2.107000	0.00840	-1.993000	0.00448	CGT		0.438	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295	
RABGEF1	27342	hgsc.bcm.edu	37	7	66274190	66274190	+	Silent	SNP	A	A	G			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr7:66274190A>G	ENST00000284957.5	+	9	1472	c.1395A>G	c.(1393-1395)caA>caG	p.Q465Q	KCTD7_ENST00000380828.2_Silent_p.Q505Q|KCTD7_ENST00000510829.2_Silent_p.Q465Q|RABGEF1_ENST00000439720.2_Silent_p.Q478Q|RABGEF1_ENST00000437078.2_Silent_p.Q479Q|KCTD7_ENST00000451741.2_Silent_p.Q465Q|GTF2IRD1P1_ENST00000457166.1_RNA|RABGEF1_ENST00000450873.2_Silent_p.Q465Q|RABGEF1_ENST00000484547.2_3'UTR			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	682	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein targeting to membrane (GO:0006612)	early endosome (GO:0005769)	DNA binding (GO:0003677)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|zinc ion binding (GO:0008270)	p.Q465Q(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						CTCCGAATCAACCGTTAGCAG	0.403																																					p.Q465Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1395G	7						.						71.0	70.0	70.0					7																	66274190		2203	4300	6503	65911625	SO:0001819	synonymous_variant	27342	exon9			AJ250042	CCDS5535.1, CCDS69308.1, CCDS75610.1	7q11.21	2010-07-09			ENSG00000154710	ENSG00000154710			17676	protein-coding gene	gene with protein product		609700				12505986, 11098082	Standard	NM_014504		Approved	rabex-5, RABEX5	uc003tvh.3	Q9UJ41	OTTHUMG00000129547	ENST00000284957.5:c.1395A>G	7.37:g.66274190A>G		Somatic		Capture	SOLID	Phase_I	65911625	NM_014504	B4DZM7|Q3HKR2|Q3HKR3|Q53FG0	Silent	SNP	ENST00000284957.5	37	CCDS5535.1																																																																																				0.403	RABGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251737.3	NM_014504	
AUTS2	26053	hgsc.bcm.edu	37	7	69364299	69364299	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr7:69364299C>T	ENST00000342771.4	+	2	658	c.337C>T	c.(337-339)Cgt>Tgt	p.R113C	AUTS2_ENST00000406775.2_Missense_Mutation_p.R113C|AUTS2_ENST00000403018.2_Missense_Mutation_p.R113C	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	113								p.R113C(1)		breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GCCTCAGGAACGTGTGGAGAA	0.468																																					p.R113C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C337T	7						.						83.0	76.0	78.0					7																	69364299		2203	4300	6503	69002235	SO:0001583	missense	26053	exon2			AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.337C>T	7.37:g.69364299C>T	ENSP00000344087:p.Arg113Cys	Somatic		Capture	SOLID	Phase_I	69002235	NM_015570	A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567495	0.86439	.	.	ENSG00000158321	ENST00000406775;ENST00000342771;ENST00000403018	T;T	0.40225	1.04;1.06	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000019	T	0.56093	0.1962	L	0.46157	1.445	0.34453	D	0.700857	D;D;D	0.89917	0.999;0.998;1.0	P;P;D	0.69824	0.862;0.804;0.966	T	0.61554	-0.7039	9	.	.	.	-11.4592	14.7174	0.69280	0.1446:0.8554:0.0:0.0	.	113;113;113	Q8WXX7-2;Q8WXX7;Q6PJU5	.;AUTS2_HUMAN;.	C	113	ENSP00000385263:R113C;ENSP00000344087:R113C	.	R	+	1	0	AUTS2	69002235	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.597000	0.46214	2.941000	0.99782	0.655000	0.94253	CGT		0.468	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2		
CROT	54677	hgsc.bcm.edu	37	7	86990865	86990865	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr7:86990865A>G	ENST00000331536.3	+	5	585	c.400A>G	c.(400-402)Aac>Gac	p.N134D	CROT_ENST00000442291.1_Missense_Mutation_p.N134D|CROT_ENST00000419147.2_Missense_Mutation_p.N162D	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	134					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)	p.N134D(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	GCATAACTTGAACTACTGGCA	0.403																																					p.N134D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A400G	7						.						81.0	78.0	79.0					7																	86990865		2203	4300	6503	86828801	SO:0001583	missense	54677	exon5				CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.400A>G	7.37:g.86990865A>G	ENSP00000331981:p.Asn134Asp	Somatic		Capture	SOLID	Phase_I	86828801	NM_021151	A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Missense_Mutation	SNP	ENST00000331536.3	37	CCDS5604.1	.	.	.	.	.	.	.	.	.	.	A	15.33	2.801289	0.50315	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	D;D;D	0.89196	-2.48;-2.48;-2.48	5.86	5.86	0.93980	.	0.179821	0.64402	D	0.000013	D	0.82490	0.5048	L	0.31664	0.95	0.30092	N	0.808271	B;B	0.23806	0.091;0.037	B;B	0.24006	0.05;0.034	T	0.71467	-0.4584	10	0.10636	T	0.68	-3.4367	16.2668	0.82588	1.0:0.0:0.0:0.0	.	162;134	E7EQF2;Q9UKG9	.;OCTC_HUMAN	D	162;134;134	ENSP00000413575:N162D;ENSP00000331981:N134D;ENSP00000411983:N134D	ENSP00000331981:N134D	N	+	1	0	CROT	86828801	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	3.495000	0.53280	2.240000	0.73641	0.533000	0.62120	AAC		0.403	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	NM_021151	
ZNF804B	219578	hgsc.bcm.edu	37	7	88847483	88847483	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr7:88847483G>T	ENST00000333190.4	+	2	732	c.123G>T	c.(121-123)aaG>aaT	p.K41N		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	41							metal ion binding (GO:0046872)	p.K41N(2)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTGCAGAAAAGAAGTCCACAG	0.343										HNSCC(36;0.09)																											p.K41N												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G123T	7						.						69.0	69.0	69.0					7																	88847483		2203	4300	6503	88685419	SO:0001583	missense	219578	exon2			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.123G>T	7.37:g.88847483G>T	ENSP00000329638:p.Lys41Asn	Somatic		Capture	SOLID	Phase_I	88685419	NM_181646	B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.592856	0.66219	.	.	ENSG00000182348	ENST00000333190	T	0.10763	2.84	5.05	4.17	0.49024	.	0.000000	0.52532	D	0.000066	T	0.16214	0.0390	N	0.24115	0.695	0.25143	N	0.99049	D	0.89917	1.0	D	0.72075	0.976	T	0.03068	-1.1076	10	0.87932	D	0	-12.5161	6.6374	0.22891	0.1562:0.1483:0.6955:0.0	.	41	A4D1E1	Z804B_HUMAN	N	41	ENSP00000329638:K41N	ENSP00000329638:K41N	K	+	3	2	ZNF804B	88685419	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.329000	0.52060	1.365000	0.46057	0.484000	0.47621	AAG		0.343	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646	
AKAP9	10142	hgsc.bcm.edu	37	7	91690676	91690676	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr7:91690676C>T	ENST00000359028.2	+	24	5965	c.5740C>T	c.(5740-5742)Cgc>Tgc	p.R1914C	AKAP9_ENST00000358100.2_Missense_Mutation_p.R1914C|AKAP9_ENST00000356239.3_Missense_Mutation_p.R1902C|AKAP9_ENST00000491695.1_3'UTR			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1914	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.R1914C(1)|p.R1902C(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACTTCGAGAGCGCCTTCATGA	0.478			T	BRAF	papillary thyroid																																p.R1902C			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C5704T	7						.						82.0	77.0	78.0					7																	91690676		2203	4300	6503	91528612	SO:0001583	missense	10142	exon23			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.5740C>T	7.37:g.91690676C>T	ENSP00000351922:p.Arg1914Cys	Somatic		Capture	SOLID	Phase_I	91528612	NM_147185	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37		.	.	.	.	.	.	.	.	.	.	C	15.54	2.863734	0.51482	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000265737	T;T;T	0.04654	3.59;3.6;3.58	5.69	5.69	0.88448	.	0.000000	0.40144	N	0.001171	T	0.15955	0.0384	L	0.49350	1.555	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.00475	-1.1717	10	0.33141	T	0.24	.	14.9593	0.71144	0.1427:0.8573:0.0:0.0	.	1914;1902;1902	Q99996;Q99996-2;Q99996-3	AKAP9_HUMAN;.;.	C	1902;1914;1914;1914;117	ENSP00000348573:R1902C;ENSP00000351922:R1914C;ENSP00000350813:R1914C	ENSP00000265737:R117C	R	+	1	0	AKAP9	91528612	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	2.025000	0.41059	2.840000	0.97914	0.655000	0.94253	CGC		0.478	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751	
TRPV6	55503	hgsc.bcm.edu	37	7	142571293	142571293	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr7:142571293C>T	ENST00000359396.3	-	13	1941	c.1696G>A	c.(1696-1698)Gcc>Acc	p.A566T	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	566					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)	p.A566T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					AGCAGTGTGGCGATGATGGCA	0.582																																					p.A566T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1696A	7						.						226.0	175.0	192.0					7																	142571293		2203	4300	6503	142281415	SO:0001583	missense	55503	exon13			AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1696G>A	7.37:g.142571293C>T	ENSP00000352358:p.Ala566Thr	Somatic		Capture	SOLID	Phase_I	142281415	NM_018646	A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.516561	0.44763	.	.	ENSG00000165125	ENST00000359396;ENST00000311470	D	0.85411	-1.98	5.57	5.57	0.84162	Ion transport (1);	0.117868	0.64402	D	0.000014	D	0.85553	0.5723	L	0.45352	1.415	0.50039	D	0.99984	D	0.57571	0.98	P	0.55871	0.786	T	0.80692	-0.1269	10	0.02654	T	1	-27.3589	18.5442	0.91040	0.0:1.0:0.0:0.0	.	566	Q9H1D0	TRPV6_HUMAN	T	566;398	ENSP00000352358:A566T	ENSP00000310825:A398T	A	-	1	0	TRPV6	142281415	1.000000	0.71417	0.992000	0.48379	0.189000	0.23516	5.929000	0.70096	2.613000	0.88420	0.655000	0.94253	GCC		0.582	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274	
PCSK2	5126	hgsc.bcm.edu	37	20	17446059	17446059	+	Missense_Mutation	SNP	C	C	T	rs550032490		TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr20:17446059C>T	ENST00000262545.2	+	11	1606	c.1291C>T	c.(1291-1293)Cgc>Tgc	p.R431C	PCSK2_ENST00000377899.1_Missense_Mutation_p.R412C|PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000536609.1_Missense_Mutation_p.R396C	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	431	Peptidase S8.				cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)	p.R431C(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TCAGTGGCGGCGCAATGGGGT	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		18953	0.0		0.0	False		,,,				2504	0.001				p.R431C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1291T	20						.						97.0	70.0	79.0					20																	17446059		2203	4300	6503	17394059	SO:0001583	missense	5126	exon11			AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1291C>T	20.37:g.17446059C>T	ENSP00000262545:p.Arg431Cys	Somatic		Capture	SOLID	Phase_I	17394059	NM_002594	B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	ENST00000262545.2	37	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.020415	0.35606	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	D;D;D	0.88124	-2.34;-2.34;-2.34	5.61	0.634	0.17718	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.83110	0.5183	L	0.49571	1.57	0.80722	D	1	B;B;B	0.27380	0.043;0.078;0.177	B;B;B	0.28232	0.038;0.038;0.087	T	0.78137	-0.2321	10	0.45353	T	0.12	-24.9218	15.2957	0.73906	0.5533:0.4467:0.0:0.0	.	396;412;431	B4DFQ3;B1ANH9;P16519	.;.;NEC2_HUMAN	C	412;431;396	ENSP00000367131:R412C;ENSP00000262545:R431C;ENSP00000437458:R396C	ENSP00000262545:R431C	R	+	1	0	PCSK2	17394059	1.000000	0.71417	0.971000	0.41717	0.739000	0.42172	3.013000	0.49582	0.218000	0.20820	-0.324000	0.08512	CGC		0.562	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594	
ZNF337	26152	hgsc.bcm.edu	37	20	25656945	25656945	+	Nonsense_Mutation	SNP	G	G	A	rs564453457		TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr20:25656945G>A	ENST00000376436.1	-	4	1518	c.979C>T	c.(979-981)Cga>Tga	p.R327*	RP4-694B14.5_ENST00000428254.1_RNA|RP4-694B14.5_ENST00000421829.1_RNA|ZNF337_ENST00000481610.1_5'Flank|ZNF337_ENST00000538750.1_Nonsense_Mutation_p.R295*|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000252979.5_Nonsense_Mutation_p.R327*			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	327					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R327*(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTATAGCCTCGCCCACACTCC	0.483																																					p.R327X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C979T	20						.						104.0	99.0	101.0					20																	25656945		2203	4300	6503	25604945	SO:0001587	stop_gained	26152	exon5				CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"""Zinc fingers, C2H2-type"", ""-"""	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.979C>T	20.37:g.25656945G>A	ENSP00000365619:p.Arg327*	Somatic		Capture	SOLID	Phase_I	25604945	NM_015655	B4DSM2|Q9Y3Y5	Nonsense_Mutation	SNP	ENST00000376436.1	37	CCDS13174.1	.	.	.	.	.	.	.	.	.	.	.	36	5.667182	0.96745	.	.	ENSG00000130684	ENST00000376436;ENST00000252979;ENST00000376412;ENST00000538750	.	.	.	1.34	0.246	0.15516	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	5.5033	0.16840	0.0:0.0:0.4186:0.5813	.	.	.	.	X	327;327;327;295	.	ENSP00000252979:R327X	R	-	1	2	ZNF337	25604945	0.997000	0.39634	0.033000	0.17914	0.977000	0.68977	1.441000	0.35035	0.098000	0.17522	0.306000	0.20318	CGA		0.483	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1		
SMOX	54498	hgsc.bcm.edu	37	20	4163062	4163062	+	Silent	SNP	G	G	A	rs145586949	byFrequency	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr20:4163062G>A	ENST00000305958.4	+	5	1161	c.936G>A	c.(934-936)tcG>tcA	p.S312S	SMOX_ENST00000379460.2_Silent_p.S312S|SMOX_ENST00000278795.3_Intron|SMOX_ENST00000346595.2_Intron|SMOX_ENST00000339123.6_Intron	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	312					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	N1-acetylspermine:oxygen oxidoreductase (N1-acetylspermidine-forming) activity (GO:0052895)|norspermine:oxygen oxidoreductase activity (GO:0052894)|polyamine oxidase activity (GO:0046592)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)	p.S312S(1)		breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	AGCAGTGGTCGGTGGTGGTGG	0.637													G|||	2	0.000399361	0.0008	0.0	5008	,	,		17743	0.001		0.0	False		,,,				2504	0.0				p.S312S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G936A	20						.	G	,,,	5,4401	11.4+/-27.6	0,5,2198	69.0	63.0	65.0		936,,,	-8.4	0.1	20	dbSNP_134	65	0,8600		0,0,4300	no	coding-synonymous,intron,intron,intron	SMOX	NM_175839.1,NM_175840.1,NM_175841.1,NM_175842.1	,,,	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	,,,	312/556,,,	4163062	5,13001	2203	4300	6503	4111062	SO:0001819	synonymous_variant	54498	exon5			AK000753	CCDS13075.1, CCDS13076.1, CCDS13077.1, CCDS13078.1, CCDS74702.1	20p13	2003-10-15	2003-10-15	2003-10-15	ENSG00000088826	ENSG00000088826			15862	protein-coding gene	gene with protein product		615854	"""chromosome 20 open reading frame 16"""	C20orf16		11454677, 12398765	Standard	NM_175839		Approved	FLJ20746, dJ779E11.1, PAO, PAOh1, MGC1010, SMO	uc002wkp.3	Q9NWM0	OTTHUMG00000031777	ENST00000305958.4:c.936G>A	20.37:g.4163062G>A		Somatic		Capture	SOLID	Phase_I	4111062	NM_175839	A2A2P5|A2A2P6|A8BE87|D3DVZ4|Q5TE26|Q5TE27|Q6UY28|Q8IX00|Q96LC3|Q96LC4|Q96QT3|Q9BW38|Q9H6H1|Q9NP51|Q9NPY1|Q9NPY2	Silent	SNP	ENST00000305958.4	37	CCDS13075.1																																																																																				0.637	SMOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077806.1	NM_175842	
CNBD2	140894	hgsc.bcm.edu	37	20	34611654	34611654	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr20:34611654T>C	ENST00000373973.3	+	11	1573	c.1400T>C	c.(1399-1401)aTg>aCg	p.M467T	CNBD2_ENST00000538900.1_Intron|CNBD2_ENST00000349339.1_Missense_Mutation_p.M463T			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	467								p.M463T(1)									GATGACGAGATGATAAAAAAG	0.393																																					p.M463T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1388C	20						.						121.0	117.0	119.0					20																	34611654		2203	4300	6503	34075068	SO:0001583	missense	140894	exon11			AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 152"", ""cyclic nucleotide (cNMP) binding domain containing 1"""	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.1400T>C	20.37:g.34611654T>C	ENSP00000363084:p.Met467Thr	Somatic		Capture	SOLID	Phase_I	34075068	NM_080834	Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Missense_Mutation	SNP	ENST00000373973.3	37		.	.	.	.	.	.	.	.	.	.	T	0.014	-1.596590	0.00857	.	.	ENSG00000149646	ENST00000373973;ENST00000349339	T;T	0.41065	1.01;1.01	4.72	0.884	0.19182	.	0.810057	0.11030	N	0.607295	T	0.16727	0.0402	N	0.04090	-0.28	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.27739	-1.0065	10	0.02654	T	1	0.009	8.8701	0.35311	0.0:0.7216:0.0:0.2784	.	463	Q96M20-2	.	T	467;463	ENSP00000363084:M467T;ENSP00000340954:M463T	ENSP00000340954:M463T	M	+	2	0	C20orf152	34075068	0.104000	0.21937	0.000000	0.03702	0.206000	0.24218	0.710000	0.25748	0.031000	0.15407	0.533000	0.62120	ATG		0.393	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000078960.2	NM_080834	
PREX1	57580	hgsc.bcm.edu	37	20	47296232	47296232	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr20:47296232C>T	ENST00000371941.3	-	12	1518	c.1496G>A	c.(1495-1497)gGc>gAc	p.G499D	PREX1_ENST00000396220.1_Missense_Mutation_p.G499D	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	499					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G499D(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CTTGTAGGTGCCATCGTCGTA	0.602																																					p.G499D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1496A	20						.						178.0	135.0	149.0					20																	47296232		2203	4300	6503	46729639	SO:0001583	missense	57580	exon12			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.1496G>A	20.37:g.47296232C>T	ENSP00000361009:p.Gly499Asp	Somatic		Capture	SOLID	Phase_I	46729639	NM_020820	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562940	0.86335	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.14144	2.53;2.53	4.52	4.52	0.55395	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.56097	U	0.000037	T	0.26666	0.0652	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	T	0.06320	-1.0833	10	0.87932	D	0	.	17.2427	0.87017	0.0:1.0:0.0:0.0	.	499	Q8TCU6	PREX1_HUMAN	D	499	ENSP00000361009:G499D;ENSP00000379522:G499D	ENSP00000361009:G499D	G	-	2	0	PREX1	46729639	1.000000	0.71417	0.994000	0.49952	0.632000	0.37999	7.730000	0.84881	2.073000	0.62155	0.442000	0.29010	GGC		0.602	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820	
TTC5	91875	hgsc.bcm.edu	37	14	20774089	20774089	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr14:20774089G>T	ENST00000258821.3	-	1	64	c.8C>A	c.(7-9)gCt>gAt	p.A3D	CTD-2292M16.7_ENST00000553419.1_RNA	NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	3					DNA repair (GO:0006281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.A3D(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		CTCTTCATCAGCCATCATCTC	0.522											OREG0022552	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A3D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8A	14						.						106.0	91.0	96.0					14																	20774089		2203	4300	6503	19843929	SO:0001583	missense	91875	exon1			BC008647	CCDS9546.1	14q11.2	2013-01-11			ENSG00000136319	ENSG00000136319		"""Tetratricopeptide (TTC) repeat domain containing"""	19274	protein-coding gene	gene with protein product						11511361	Standard	NM_138376		Approved	Strap	uc001vwt.3	Q8N0Z6	OTTHUMG00000029506	ENST00000258821.3:c.8C>A	14.37:g.20774089G>T	ENSP00000258821:p.Ala3Asp	Somatic	743	Capture	SOLID	Phase_I	19843929	NM_138376	A8MQ18|Q96HF9	Missense_Mutation	SNP	ENST00000258821.3	37	CCDS9546.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.476268	0.84640	.	.	ENSG00000136319	ENST00000258821	T	0.37058	1.22	4.95	4.95	0.65309	.	0.160346	0.53938	D	0.000045	T	0.40909	0.1136	N	0.25647	0.755	0.46774	D	0.999193	D	0.64830	0.994	P	0.56865	0.808	T	0.26360	-1.0105	10	0.66056	D	0.02	.	13.8614	0.63561	0.0:0.0:1.0:0.0	.	3	Q8N0Z6	TTC5_HUMAN	D	3	ENSP00000258821:A3D	ENSP00000258821:A3D	A	-	2	0	TTC5	19843929	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.300000	0.59079	2.726000	0.93360	0.655000	0.94253	GCT		0.522	TTC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073529.4	NM_138376	
DAD1	1603	hgsc.bcm.edu	37	14	23044032	23044032	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr14:23044032G>A	ENST00000250498.4	-	2	424	c.313C>T	c.(313-315)Cac>Tac	p.H105Y	DAD1_ENST00000538631.1_Intron|DAD1_ENST00000543337.1_Missense_Mutation_p.H77Y|DAD1_ENST00000489532.2_5'Flank	NM_001344.2	NP_001335.1	P61803	DAD1_HUMAN	defender against cell death 1	105					apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|cellular protein metabolic process (GO:0044267)|negative regulation of apoptotic process (GO:0043066)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)	p.H105Y(1)		large_intestine(2)|ovary(2)|prostate(1)	5	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0156)		ACAACAAGGTGCAGGATGGTG	0.438																																					p.H105Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C313T	14						.						149.0	141.0	144.0					14																	23044032		2203	4300	6503	22113872	SO:0001583	missense	1603	exon2			AK223129	CCDS9571.1	14q11.2	2013-03-06			ENSG00000129562	ENSG00000129562			2664	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 2 homolog (S. cerevisiae)"", ""oligosaccharyltransferase subunit 2 (non-catalytic)"""	600243					Standard	NM_001344		Approved	OST2	uc001wgl.2	P61803	OTTHUMG00000028685	ENST00000250498.4:c.313C>T	14.37:g.23044032G>A	ENSP00000250498:p.His105Tyr	Somatic		Capture	SOLID	Phase_I	22113872	NM_001344	D3DS25|O08552|O70364|P46966|P46968|Q6FGA3|Q96GB7	Missense_Mutation	SNP	ENST00000250498.4	37	CCDS9571.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.825193	0.90955	.	.	ENSG00000129562	ENST00000250498;ENST00000543337	T;T	0.50813	0.73;0.73	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.75774	0.3895	M	0.91510	3.215	0.80722	D	1	D	0.62365	0.991	D	0.76575	0.988	T	0.79612	-0.1731	10	0.54805	T	0.06	-23.0977	17.5081	0.87752	0.0:0.0:1.0:0.0	.	105	P61803	DAD1_HUMAN	Y	105;77	ENSP00000250498:H105Y;ENSP00000440821:H77Y	ENSP00000250498:H105Y	H	-	1	0	DAD1	22113872	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.077000	0.94016	2.740000	0.93945	0.313000	0.20887	CAC		0.438	DAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071617.2	NM_001344	
TM9SF1	10548	hgsc.bcm.edu	37	14	24658815	24658815	+	Missense_Mutation	SNP	C	C	A	rs191087215		TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr14:24658815C>A	ENST00000261789.4	-	6	1985	c.1627G>T	c.(1627-1629)Ggc>Tgc	p.G543C	TM9SF1_ENST00000530611.1_Missense_Mutation_p.G752C|IPO4_ENST00000354464.6_5'Flank|RP11-468E2.2_ENST00000561419.1_Silent_p.P79P|TM9SF1_ENST00000528669.1_Missense_Mutation_p.G526C|TM9SF1_ENST00000556387.1_Missense_Mutation_p.G752C|TM9SF1_ENST00000524835.1_Missense_Mutation_p.G456C	NM_006405.5	NP_006396.2	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	543					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)		p.G543C(1)		NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		ATGAAGAGGCCGGTGGAGCCA	0.542																																					p.G543C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1627T	14						.						76.0	80.0	79.0					14																	24658815		2203	4300	6503	23728655	SO:0001583	missense	10548	exon6			U94831	CCDS9617.1, CCDS41934.1, CCDS73623.1	14q11.2	2005-10-11			ENSG00000100926	ENSG00000100926			11864	protein-coding gene	gene with protein product						9332367	Standard	NM_006405		Approved	MP70, HMP70	uc010tob.1	O15321	OTTHUMG00000029322	ENST00000261789.4:c.1627G>T	14.37:g.24658815C>A	ENSP00000261789:p.Gly543Cys	Somatic		Capture	SOLID	Phase_I	23728655	NM_006405	D3DS65|Q86SZ6|Q96FI8	Missense_Mutation	SNP	ENST00000261789.4	37	CCDS9617.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.6|26.6	4.752869|4.752869	0.89753|0.89753	.|.	.|.	ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000254692|ENSG00000100926	ENST00000261789;ENST00000528669;ENST00000556387;ENST00000524835;ENST00000530611|ENST00000532632	T;T;T;T;T|T	0.51071|0.54279	0.72;0.72;0.72;0.72;0.72|0.58	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71753|0.71753	0.3377|0.3377	M|M	0.79343|0.79343	2.45|2.45	0.80722|0.80722	D|D	1|1	D|.	0.64830|.	0.994|.	D|.	0.70016|.	0.967|.	T|T	0.74009|0.74009	-0.3802|-0.3802	10|7	0.87932|0.87932	D|D	0|0	-11.2752|-11.2752	17.2626|17.2626	0.87075|0.87075	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	543|.	O15321|.	TM9S1_HUMAN|.	C|L	543;526;752;456;752|110	ENSP00000261789:G543C;ENSP00000432997:G526C;ENSP00000451949:G752C;ENSP00000434387:G456C;ENSP00000433967:G752C|ENSP00000436486:R110L	ENSP00000433967:G752C|ENSP00000436486:R110L	G|R	-|-	1|2	0|0	TM9SF1;RP11-468E2.1|TM9SF1	23728655|23728655	1.000000|1.000000	0.71417|0.71417	0.978000|0.978000	0.43139|0.43139	0.972000|0.972000	0.66771|0.66771	6.374000|6.374000	0.73132|0.73132	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GGC|CGG		0.542	TM9SF1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073136.2	NM_006405	
PPP1R36	145376	hgsc.bcm.edu	37	14	65053955	65053955	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr14:65053955G>A	ENST00000298705.1	+	10	851	c.755G>A	c.(754-756)cGa>cAa	p.R252Q	RP11-973N13.3_ENST00000554454.1_RNA|RP11-973N13.3_ENST00000556634.1_RNA	NM_172365.1	NP_758953.1	Q96LQ0	PPR36_HUMAN	protein phosphatase 1, regulatory subunit 36	252					negative regulation of phosphatase activity (GO:0010923)		phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)	p.R252Q(1)									ATTGTCTTCCGACGTCAACAC	0.403																																					p.R252Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G755A	14						.						137.0	129.0	132.0					14																	65053955		2203	4300	6503	64123708	SO:0001583	missense	145376	exon10				CCDS9767.1	14q23.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000165807	ENSG00000165807		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20097	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 50"""	C14orf50			Standard	NM_172365		Approved		uc001xhl.1	Q96LQ0	OTTHUMG00000141316	ENST00000298705.1:c.755G>A	14.37:g.65053955G>A	ENSP00000298705:p.Arg252Gln	Somatic		Capture	SOLID	Phase_I	64123708	NM_172365	Q6NTH6	Missense_Mutation	SNP	ENST00000298705.1	37	CCDS9767.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.634652	0.67130	.	.	ENSG00000165807	ENST00000298705	T	0.32023	1.47	5.55	2.77	0.32553	.	0.244284	0.28736	N	0.014301	T	0.24967	0.0606	L	0.34521	1.04	0.32972	D	0.522491	D	0.60575	0.988	P	0.46825	0.528	T	0.34551	-0.9824	10	0.54805	T	0.06	-5.8282	7.0479	0.25056	0.2714:0.0:0.7286:0.0	.	252	Q96LQ0	PPR36_HUMAN	Q	252	ENSP00000298705:R252Q	ENSP00000298705:R252Q	R	+	2	0	C14orf50	64123708	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.967000	0.29344	0.712000	0.32039	-0.137000	0.14449	CGA		0.403	PPP1R36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280667.1	NM_172365	
NRXN3	9369	hgsc.bcm.edu	37	14	80130218	80130218	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr14:80130218T>C	ENST00000557594.1	+	3	1480	c.527T>C	c.(526-528)gTa>gCa	p.V176A	NRXN3_ENST00000428277.2_Missense_Mutation_p.V176A|NRXN3_ENST00000554719.1_Missense_Mutation_p.V808A|RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000281127.7_Missense_Mutation_p.V176A|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000335750.5_Missense_Mutation_p.V808A	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	176	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)	p.V808A(1)|p.V176A(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TACCATGTGGTACGCTTCACC	0.493																																					p.V176A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T527C	14						.						135.0	117.0	123.0					14																	80130218		2203	4300	6503	79199971	SO:0001583	missense	9369	exon3			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.527T>C	14.37:g.80130218T>C	ENSP00000451672:p.Val176Ala	Somatic		Capture	SOLID	Phase_I	79199971	NM_138970	A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000557594.1	37		.	.	.	.	.	.	.	.	.	.	T	29.9	5.041352	0.93685	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750;ENST00000557594;ENST00000281127;ENST00000428277	D;D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17;-2.17	5.63	5.63	0.86233	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.94115	0.8113	M	0.88241	2.94	0.80722	D	1	P;P;P;P	0.50066	0.818;0.921;0.841;0.931	P;D;P;D	0.65233	0.86;0.933;0.901;0.91	D	0.94642	0.7831	9	.	.	.	.	16.1358	0.81487	0.0:0.0:0.0:1.0	.	176;176;176;808	Q9HDB5-4;Q9HDB5-2;Q9HDB5;Q9Y4C0-3	.;.;NRX3B_HUMAN;.	A	1181;1170;808;808;176;176;176	ENSP00000451648:V808A;ENSP00000338349:V808A;ENSP00000451672:V176A;ENSP00000281127:V176A;ENSP00000394426:V176A	.	V	+	2	0	NRXN3	79199971	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.980000	0.88113	2.261000	0.74972	0.460000	0.39030	GTA		0.493	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250	
SERPINA4	5267	hgsc.bcm.edu	37	14	95030339	95030339	+	Missense_Mutation	SNP	G	G	C	rs550133117		TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr14:95030339G>C	ENST00000557004.1	+	2	941	c.520G>C	c.(520-522)Gac>Cac	p.D174H	SERPINA4_ENST00000298841.5_Missense_Mutation_p.D174H|SERPINA4_ENST00000555095.1_Missense_Mutation_p.D174H|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	174					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.D174H(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CAACTTCTACGACACTGTGGG	0.483																																					p.D174H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G520C	14						.						178.0	162.0	167.0					14																	95030339		2203	4300	6503	94100092	SO:0001583	missense	5267	exon2			L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"""Serine (or cysteine) peptidase inhibitors"""	8948	protein-coding gene	gene with protein product		147935	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"""	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.520G>C	14.37:g.95030339G>C	ENSP00000450838:p.Asp174His	Somatic		Capture	SOLID	Phase_I	94100092	NM_006215	Q53XB5|Q86TR9|Q96BZ5	Missense_Mutation	SNP	ENST00000557004.1	37	CCDS9927.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.396278	0.42512	.	.	ENSG00000100665	ENST00000557004;ENST00000555095;ENST00000298841	D;D;D	0.84730	-1.89;-1.89;-1.89	4.41	2.58	0.30949	Serpin domain (3);	0.363396	0.22716	N	0.056515	D	0.88273	0.6392	L	0.59912	1.85	0.26718	N	0.970831	D;D	0.76494	0.999;0.983	D;P	0.74674	0.984;0.856	T	0.79150	-0.1922	10	0.72032	D	0.01	.	6.4881	0.22099	0.4035:0.0:0.5965:0.0	.	174;174	B2R815;P29622	.;KAIN_HUMAN	H	174	ENSP00000450838:D174H;ENSP00000451172:D174H;ENSP00000298841:D174H	ENSP00000298841:D174H	D	+	1	0	SERPINA4	94100092	0.870000	0.30015	0.001000	0.08648	0.002000	0.02628	2.017000	0.40981	0.431000	0.26258	-0.136000	0.14681	GAC		0.483	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410718.1	NM_006215	
CABIN1	23523	hgsc.bcm.edu	37	22	24480554	24480554	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr22:24480554C>T	ENST00000398319.2	+	21	3318	c.2933C>T	c.(2932-2934)gCa>gTa	p.A978V	CABIN1_ENST00000405822.2_Missense_Mutation_p.A928V|CABIN1_ENST00000263119.5_Missense_Mutation_p.A978V	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	978					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.A978V(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TGGGAGGATGCACTGTTCATG	0.418																																					p.A978V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2933T	22						.						219.0	202.0	208.0					22																	24480554		2203	4300	6503	22810554	SO:0001583	missense	23523	exon21			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.2933C>T	22.37:g.24480554C>T	ENSP00000381364:p.Ala978Val	Somatic		Capture	SOLID	Phase_I	22810554	NM_001199281	G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787280	0.90367	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	T;T;T	0.65364	0.02;-0.15;0.02	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.73233	0.3561	L	0.41492	1.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.68633	-0.5357	10	0.34782	T	0.22	.	19.2798	0.94048	0.0:1.0:0.0:0.0	.	928;978	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	V	978;928;978	ENSP00000263119:A978V;ENSP00000384694:A928V;ENSP00000381364:A978V	ENSP00000263119:A978V	A	+	2	0	CABIN1	22810554	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.687000	0.84139	2.880000	0.98712	0.650000	0.86243	GCA		0.418	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295	
ZNF491	126069	hgsc.bcm.edu	37	19	11917212	11917212	+	Silent	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr19:11917212C>T	ENST00000323169.5	+	3	775	c.444C>T	c.(442-444)acC>acT	p.T148T	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	148					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T148T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						TATACCTTACCCATGAACGAA	0.408																																					p.T148T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C444T	19						.						90.0	90.0	90.0					19																	11917212		2203	4300	6503	11778212	SO:0001819	synonymous_variant	126069	exon3			AK092110	CCDS12267.1	19p13.2	2013-01-08			ENSG00000177599	ENSG00000177599		"""Zinc fingers, C2H2-type"""	23706	protein-coding gene	gene with protein product							Standard	XM_005259730		Approved	FLJ34791	uc002mso.1	Q8N8L2	OTTHUMG00000156529	ENST00000323169.5:c.444C>T	19.37:g.11917212C>T		Somatic		Capture	SOLID	Phase_I	11778212	NM_152356	Q3MJ35|Q8NAT8	Silent	SNP	ENST00000323169.5	37	CCDS12267.1																																																																																				0.408	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344518.1	NM_152356	
ZFP82	284406	hgsc.bcm.edu	37	19	36884626	36884626	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr19:36884626C>A	ENST00000392161.3	-	5	858	c.616G>T	c.(616-618)Gcc>Tcc	p.A206S	ZFP82_ENST00000392171.1_Missense_Mutation_p.A206S	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	206					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A206S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGTCTGAAGGCCATCCCACAT	0.438																																					p.A206S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G616T	19						.						104.0	92.0	96.0					19																	36884626		2203	4300	6503	41576466	SO:0001583	missense	284406	exon5			AL834267	CCDS12493.1	19q13.13	2013-01-08	2012-11-27	2008-07-01		ENSG00000181007		"""Zinc fingers, C2H2-type"", ""-"""	28682	protein-coding gene	gene with protein product			"""zinc finger protein 545"", ""zinc finger protein 82 homolog (mouse)"", ""zinc finger protein 82"""	ZNF545		11853319	Standard	NM_133466		Approved	MGC45380, KIAA1948	uc002ody.1	Q8N141		ENST00000392161.3:c.616G>T	19.37:g.36884626C>A	ENSP00000431265:p.Ala206Ser	Somatic		Capture	SOLID	Phase_I	41576466	NM_133466	Q8NC63|Q8TF53	Missense_Mutation	SNP	ENST00000392161.3	37	CCDS12493.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465097	0.43839	.	.	ENSG00000181007	ENST00000392161;ENST00000392171	T;T	0.18338	2.22;2.22	4.62	2.46	0.29980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.393945	0.18684	N	0.134068	T	0.24812	0.0602	L	0.39633	1.23	0.25062	N	0.991052	D	0.55385	0.971	D	0.64506	0.926	T	0.04294	-1.0962	10	0.59425	D	0.04	.	4.6735	0.12701	0.0:0.6246:0.1818:0.1936	.	206	Q8N141	ZFP82_HUMAN	S	206	ENSP00000431265:A206S;ENSP00000446080:A206S	ENSP00000431265:A206S	A	-	1	0	ZFP82	41576466	0.000000	0.05858	0.993000	0.49108	0.883000	0.51084	-0.266000	0.08631	0.554000	0.29061	-0.140000	0.14226	GCC		0.438	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109552.2	NM_133466	
SLC17A7	57030	hgsc.bcm.edu	37	19	49938473	49938473	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr19:49938473A>C	ENST00000221485.3	-	3	557	c.386T>G	c.(385-387)gTc>gGc	p.V129G	SLC17A7_ENST00000543531.1_Missense_Mutation_p.V117G|SLC17A7_ENST00000600601.1_Missense_Mutation_p.V62G	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	129					glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)	p.V129G(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		AATCTGAGTGACAATGTAGCC	0.502																																					p.V129G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T386G	19						.						173.0	183.0	180.0					19																	49938473		2203	4300	6503	54630285	SO:0001583	missense	57030	exon3			AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"""Solute carriers"""	16704	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 1"""	605208	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"""			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7		ENST00000221485.3:c.386T>G	19.37:g.49938473A>C	ENSP00000221485:p.Val129Gly	Somatic		Capture	SOLID	Phase_I	54630285	NM_020309	B4DFR9|B4DG46|Q6PCD0	Missense_Mutation	SNP	ENST00000221485.3	37	CCDS12764.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.403860	0.83230	.	.	ENSG00000104888	ENST00000221485;ENST00000543531	T;T	0.61274	0.12;0.12	4.94	4.94	0.65067	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.41294	D	0.000920	T	0.73992	0.3658	M	0.85099	2.735	0.80722	D	1	P;P	0.48764	0.853;0.915	P;P	0.57468	0.756;0.821	T	0.78961	-0.1997	10	0.87932	D	0	.	12.8817	0.58020	1.0:0.0:0.0:0.0	.	62;129	B4DFR9;Q9P2U7	.;VGLU1_HUMAN	G	129;117	ENSP00000221485:V129G;ENSP00000441767:V117G	ENSP00000221485:V129G	V	-	2	0	SLC17A7	54630285	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	8.761000	0.91691	2.213000	0.71641	0.477000	0.44152	GTC		0.502	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465367.2		
SIGLEC8	27181	hgsc.bcm.edu	37	19	51961360	51961360	+	Silent	SNP	G	G	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr19:51961360G>T	ENST00000321424.3	-	1	348	c.282C>A	c.(280-282)ggC>ggA	p.G94G	SIGLEC8_ENST00000597352.1_5'Flank|SIGLEC8_ENST00000430817.1_Silent_p.G94G|SIGLEC8_ENST00000340550.5_Silent_p.G94G	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	94	Ig-like V-type.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.G94G(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GTTGGAATCGGCCCTGGGTCT	0.552																																					p.G94G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C282A	19						.						188.0	167.0	174.0					19																	51961360		2203	4300	6503	56653172	SO:0001819	synonymous_variant	27181	exon1			AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.282C>A	19.37:g.51961360G>T		Somatic		Capture	SOLID	Phase_I	56653172	NM_014442	Q7Z728	Silent	SNP	ENST00000321424.3	37	CCDS33086.1																																																																																				0.552	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442	
ELAVL1	1994	hgsc.bcm.edu	37	19	8028661	8028661	+	Silent	SNP	G	G	A			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr19:8028661G>A	ENST00000407627.2	-	6	816	c.687C>T	c.(685-687)agC>agT	p.S229S	ELAVL1_ENST00000593807.1_3'UTR|ELAVL1_ENST00000596459.1_Silent_p.S229S|ELAVL1_ENST00000351593.5_Silent_p.S256S	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	229					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|multicellular organismal development (GO:0007275)|positive regulation of translation (GO:0045727)|regulation of stem cell maintenance (GO:2000036)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|double-stranded RNA binding (GO:0003725)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)	p.S229S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CAGAGAGCCCGCTCATGTGAT	0.647																																					p.S229S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C687T	19						.						42.0	35.0	37.0					19																	8028661		2203	4300	6503	7934661	SO:0001819	synonymous_variant	1994	exon6			U38175	CCDS12193.1	19p13.2	2013-10-03	2013-10-03			ENSG00000066044		"""RNA binding motif (RRM) containing"""	3312	protein-coding gene	gene with protein product	"""embryonic lethal, abnormal vision, drosophila, homolog-like 1"", ""Hu antigen R"""	603466	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R)"""	HUR		8626503, 9003489	Standard	NM_001419		Approved	HuR, Hua, MelG	uc002mjb.3	Q15717		ENST00000407627.2:c.687C>T	19.37:g.8028661G>A		Somatic		Capture	SOLID	Phase_I	7934661	NM_001419	B4DVB8|Q53XN6|Q9BTT1	Silent	SNP	ENST00000407627.2	37	CCDS12193.1																																																																																				0.647	ELAVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461494.3	NM_001419	
ZNF426	79088	hgsc.bcm.edu	37	19	9639398	9639398	+	Silent	SNP	C	C	T	rs140733239	byFrequency	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr19:9639398C>T	ENST00000535489.1	-	6	1659	c.1323G>A	c.(1321-1323)acG>acA	p.T441T	ZNF426_ENST00000593003.1_Silent_p.T403T|ZNF426_ENST00000253115.2_Silent_p.T441T			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	441					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T441T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						GGGCACTGTGCGTTCGCATGT	0.433													C|||	2	0.000399361	0.0	0.0	5008	,	,		22023	0.0		0.0	False		,,,				2504	0.002				p.T441T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1323A	19						.	C		1,4405	2.1+/-5.4	0,1,2202	125.0	111.0	116.0		1323	0.1	0.0	19	dbSNP_134	116	0,8600		0,0,4300	no	coding-synonymous	ZNF426	NM_024106.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		441/555	9639398	1,13005	2203	4300	6503	9500398	SO:0001819	synonymous_variant	79088	exon8			AK095759	CCDS12215.1, CCDS74279.1	19p13.2	2013-01-08				ENSG00000130818		"""Zinc fingers, C2H2-type"", ""-"""	20725	protein-coding gene	gene with protein product							Standard	NM_024106		Approved	MGC2663	uc002mlq.3	Q9BUY5		ENST00000535489.1:c.1323G>A	19.37:g.9639398C>T		Somatic		Capture	SOLID	Phase_I	9500398	NM_024106	B3KTL2	Silent	SNP	ENST00000535489.1	37	CCDS12215.1																																																																																				0.433	ZNF426-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449905.1	NM_024106	
USP29	57663	hgsc.bcm.edu	37	19	57641922	57641922	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr19:57641922G>A	ENST00000254181.4	+	4	2333	c.1879G>A	c.(1879-1881)Gca>Aca	p.A627T	USP29_ENST00000598197.1_Missense_Mutation_p.A627T	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	627	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.A627T(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAATGGCTCTGCACTAGAGTC	0.498																																					p.A627T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1879A	19						.						74.0	72.0	72.0					19																	57641922		2203	4300	6503	62333734	SO:0001583	missense	57663	exon4				CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.1879G>A	19.37:g.57641922G>A	ENSP00000254181:p.Ala627Thr	Somatic		Capture	SOLID	Phase_I	62333734	NM_020903		Missense_Mutation	SNP	ENST00000254181.4	37	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	G	3.261	-0.151082	0.06585	.	.	ENSG00000131864	ENST00000254181	T	0.73681	-0.77	2.31	-1.98	0.07480	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	.	.	.	.	T	0.46367	0.1389	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.29058	-1.0024	9	0.11485	T	0.65	1.1323	6.2688	0.20943	0.4521:0.0:0.5479:0.0	.	627	Q9HBJ7	UBP29_HUMAN	T	627	ENSP00000254181:A627T	ENSP00000254181:A627T	A	+	1	0	USP29	62333734	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.431000	0.06965	-0.467000	0.06932	-0.670000	0.03821	GCA		0.498	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1		
NUDCD1	84955	hgsc.bcm.edu	37	8	110302029	110302029	+	Silent	SNP	A	A	C			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr8:110302029A>C	ENST00000239690.4	-	5	1148	c.774T>G	c.(772-774)ggT>ggG	p.G258G	NUDCD1_ENST00000427660.2_Silent_p.G229G	NM_032869.3	NP_116258.2			NudC domain containing 1											breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			CAAGATCTTGACCAGCCTGAA	0.328																																					p.G258G												.	.	0			c.T774G	8						.						74.0	74.0	74.0					8																	110302029		2203	4300	6503	110371205	SO:0001819	synonymous_variant	84955	exon5			AF283302	CCDS6312.1, CCDS47910.1	8q23	2005-02-07			ENSG00000120526	ENSG00000120526			24306	protein-coding gene	gene with protein product		606109				11416219	Standard	NM_032869		Approved	CML66, FLJ14991	uc003ynb.4	Q96RS6	OTTHUMG00000164931	ENST00000239690.4:c.774T>G	8.37:g.110302029A>C		Somatic		Capture	SOLID	Phase_I	110371205	NM_032869		Silent	SNP	ENST00000239690.4	37	CCDS6312.1																																																																																				0.328	NUDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380996.1	NM_032869	
CSMD3	114788	hgsc.bcm.edu	37	8	114031387	114031387	+	Silent	SNP	T	T	C			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr8:114031387T>C	ENST00000297405.5	-	6	1183	c.939A>G	c.(937-939)ccA>ccG	p.P313P	CSMD3_ENST00000343508.3_Silent_p.P273P|CSMD3_ENST00000352409.3_Silent_p.P313P|CSMD3_ENST00000455883.2_Silent_p.P313P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	313	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P313P(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TAATTGGTGGTGGTATATTCA	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.P313P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A939G	8						.						195.0	178.0	184.0					8																	114031387		2203	4300	6503	114100563	SO:0001819	synonymous_variant	114788	exon6			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.939A>G	8.37:g.114031387T>C		Somatic		Capture	SOLID	Phase_I	114100563	NM_198123	Q96PZ3	Silent	SNP	ENST00000297405.5	37	CCDS6315.1																																																																																				0.353	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
COL14A1	7373	hgsc.bcm.edu	37	8	121222106	121222106	+	Missense_Mutation	SNP	C	C	A	rs138187905		TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr8:121222106C>A	ENST00000297848.3	+	12	1703	c.1433C>A	c.(1432-1434)cCt>cAt	p.P478H	COL14A1_ENST00000537875.1_Missense_Mutation_p.P478H|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.P478H|COL14A1_ENST00000247781.3_Missense_Mutation_p.P383H	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1									p.P478H(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CTTTATGCTCCTCTAACAGAG	0.433																																					p.P478H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1433A	8						.						90.0	83.0	85.0					8																	121222106		2203	4300	6503	121291287	SO:0001583	missense	7373	exon12				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.1433C>A	8.37:g.121222106C>A	ENSP00000297848:p.Pro478His	Somatic		Capture	SOLID	Phase_I	121291287	NM_021110		Missense_Mutation	SNP	ENST00000297848.3	37	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.345117	0.61073	.	.	ENSG00000187955	ENST00000537875;ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31	5.31	5.31	0.75309	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.82504	0.5051	M	0.92077	3.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86389	0.1734	10	0.87932	D	0	.	19.1802	0.93620	0.0:1.0:0.0:0.0	.	478;478	Q05707-2;Q05707	.;COEA1_HUMAN	H	478;478;478;383;291	ENSP00000443974:P478H;ENSP00000311809:P478H;ENSP00000297848:P478H;ENSP00000247781:P383H;ENSP00000409461:P291H	ENSP00000247781:P383H	P	+	2	0	COL14A1	121291287	1.000000	0.71417	0.988000	0.46212	0.140000	0.21249	7.200000	0.77838	2.748000	0.94277	0.650000	0.86243	CCT		0.433	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110	
MTBP	27085	hgsc.bcm.edu	37	8	121467706	121467706	+	Silent	SNP	T	T	G			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr8:121467706T>G	ENST00000305949.1	+	6	561	c.516T>G	c.(514-516)ctT>ctG	p.L172L		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	172					cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)		p.L172L(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TACTGTTGCTTTCTGACAAAG	0.323																																					p.L172L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T516G	8						.						98.0	99.0	99.0					8																	121467706		2203	4299	6502	121536887	SO:0001819	synonymous_variant	27085	exon6				CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"""MDM2 (mouse double minute 2)-binding protein, 104kD"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"""			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.516T>G	8.37:g.121467706T>G		Somatic		Capture	SOLID	Phase_I	121536887	NM_022045	B4DUR5|Q9HA89	Silent	SNP	ENST00000305949.1	37	CCDS6333.1																																																																																				0.323	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	NM_022045	
ADCY8	114	hgsc.bcm.edu	37	8	131793086	131793086	+	Silent	SNP	G	G	A	rs145809062		TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr8:131793086G>A	ENST00000286355.5	-	18	5398	c.3306C>T	c.(3304-3306)ggC>ggT	p.G1102G	ADCY8_ENST00000377928.3_Silent_p.G971G	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1102					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.G1102G(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GTTTCTTAGCGCCGATAACGC	0.567										HNSCC(32;0.087)																											p.G1102G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3306T	8						.	G		1,4405	2.1+/-5.4	0,1,2202	108.0	108.0	108.0		3306	4.2	1.0	8	dbSNP_134	108	0,8600		0,0,4300	no	coding-synonymous	ADCY8	NM_001115.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1102/1252	131793086	1,13005	2203	4300	6503	131862268	SO:0001819	synonymous_variant	114	exon18			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.3306C>T	8.37:g.131793086G>A		Somatic		Capture	SOLID	Phase_I	131862268	NM_001115		Silent	SNP	ENST00000286355.5	37	CCDS6363.1																																																																																				0.567	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1		
ADAM28	10863	hgsc.bcm.edu	37	8	24207413	24207413	+	Missense_Mutation	SNP	C	C	T	rs139883608		TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr8:24207413C>T	ENST00000265769.4	+	19	2137	c.2027C>T	c.(2026-2028)gCg>gTg	p.A676V	RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000397649.3_Silent_p.G424G|RP11-624C23.1_ENST00000523700.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	676					spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A676V(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TTCCCAATGGCGGTCATTTTT	0.502																																					p.A676V	NSCLC(193;488 2149 22258 34798 40734)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2027T	8						.						182.0	174.0	177.0					8																	24207413		2203	4300	6503	24263358	SO:0001583	missense	10863	exon19			AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.2027C>T	8.37:g.24207413C>T	ENSP00000265769:p.Ala676Val	Somatic		Capture	SOLID	Phase_I	24263358	NM_014265	B2RMV5|Q9Y339|Q9Y3S0	Missense_Mutation	SNP	ENST00000265769.4	37	CCDS34865.1	.	.	.	.	.	.	.	.	.	.	C	8.293	0.818255	0.16607	.	.	ENSG00000042980	ENST00000265769	T	0.01474	4.85	5.34	4.47	0.54385	.	.	.	.	.	T	0.03011	0.0089	L	0.34521	1.04	0.34200	D	0.673083	D;D	0.71674	0.998;0.998	P;P	0.54238	0.746;0.746	T	0.56523	-0.7965	9	0.13470	T	0.59	.	10.2991	0.43642	0.0:0.9086:0.0:0.0914	.	676;676	B2RMV5;Q9UKQ2	.;ADA28_HUMAN	V	676	ENSP00000265769:A676V	ENSP00000265769:A676V	A	+	2	0	ADAM28	24263358	0.973000	0.33851	0.580000	0.28601	0.012000	0.07955	3.747000	0.55134	1.408000	0.46895	-0.417000	0.06048	GCG		0.502	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778	
ASH2L	9070	hgsc.bcm.edu	37	8	37978664	37978664	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr8:37978664C>T	ENST00000343823.6	+	10	1471	c.1162C>T	c.(1162-1164)Cga>Tga	p.R388*	ASH2L_ENST00000428278.2_Nonsense_Mutation_p.R294*|ASH2L_ENST00000545394.1_Nonsense_Mutation_p.R249*|RP11-90P5.5_ENST00000476186.2_RNA|ASH2L_ENST00000521652.1_Nonsense_Mutation_p.R294*|ASH2L_ENST00000250635.7_Nonsense_Mutation_p.R294*|RP11-90P5.4_ENST00000519081.1_RNA	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	388	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				cellular response to DNA damage stimulus (GO:0006974)|hemopoiesis (GO:0030097)|histone H3-K4 methylation (GO:0051568)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)	p.R388*(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				CCTACATGATCGAGGTATGTA	0.458											OREG0018719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R294X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C880T	8						.						106.0	101.0	103.0					8																	37978664		2203	4300	6503	38097821	SO:0001587	stop_gained	9070	exon10			AF056717	CCDS6101.1, CCDS47840.1, CCDS59100.1, CCDS64872.1	8p11.2	2013-01-28	2001-11-28		ENSG00000129691	ENSG00000129691		"""Zinc fingers, PHD-type"""	744	protein-coding gene	gene with protein product		604782	"""ash2 (absent, small, or homeotic, Drosophila, homolog)-like"""	ASH2L1		10393421	Standard	NM_004674		Approved	ASH2L2, ASH2, Bre2	uc003xkt.5	Q9UBL3	OTTHUMG00000164016	ENST00000343823.6:c.1162C>T	8.37:g.37978664C>T	ENSP00000340896:p.Arg388*	Somatic	874	Capture	SOLID	Phase_I	38097821	NM_001105214	A8K7C3|D3DSW9|O60659|O60660|Q96B62	Nonsense_Mutation	SNP	ENST00000343823.6	37	CCDS6101.1	.	.	.	.	.	.	.	.	.	.	C	38	7.182185	0.98118	.	.	ENSG00000129691	ENST00000343823;ENST00000250635;ENST00000545394;ENST00000428278;ENST00000521652	.	.	.	5.62	3.75	0.43078	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.9264	0.70881	0.368:0.632:0.0:0.0	.	.	.	.	X	388;294;249;294;294	.	ENSP00000250635:R294X	R	+	1	2	ASH2L	38097821	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	1.123000	0.31308	1.366000	0.46076	-0.182000	0.12963	CGA		0.458	ASH2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376749.4	NM_004674	
EYA1	2138	hgsc.bcm.edu	37	8	72129053	72129053	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr8:72129053C>T	ENST00000340726.3	-	14	1873	c.1234G>A	c.(1234-1236)Gca>Aca	p.A412T	EYA1_ENST00000388741.2_Missense_Mutation_p.A378T|EYA1_ENST00000419131.1_Missense_Mutation_p.A377T|EYA1_ENST00000303824.7_Missense_Mutation_p.A406T|EYA1_ENST00000388742.4_Missense_Mutation_p.A412T|EYA1_ENST00000388740.3_Missense_Mutation_p.A379T|EYA1_ENST00000388743.2_Missense_Mutation_p.A411T	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	412					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)	p.A412T(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CTGGTTGCTGCAGCAGGAAAG	0.438																																					p.A379T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1135A	8						.						128.0	117.0	121.0					8																	72129053		2203	4300	6503	72291607	SO:0001583	missense	2138	exon12			AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.1234G>A	8.37:g.72129053C>T	ENSP00000342626:p.Ala412Thr	Somatic		Capture	SOLID	Phase_I	72291607	NM_172060	A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	ENST00000340726.3	37	CCDS34906.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.184742	0.57909	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	D;D;D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54	5.34	5.34	0.76211	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.85039	0.5606	L	0.52266	1.64	0.80722	D	1	D;B;B;D;B	0.61080	0.989;0.071;0.071;0.989;0.254	P;B;B;P;B	0.57776	0.827;0.071;0.071;0.827;0.139	T	0.82452	-0.0450	10	0.32370	T	0.25	-21.3034	19.2408	0.93881	0.0:1.0:0.0:0.0	.	406;339;379;412;377	A6NCB9;Q0P517;Q99502-2;Q99502;G5E9R4	.;.;.;EYA1_HUMAN;.	T	412;412;380;379;406;378;411;377	ENSP00000373394:A412T;ENSP00000342626:A412T;ENSP00000373392:A379T;ENSP00000303221:A406T;ENSP00000373393:A378T;ENSP00000373395:A411T;ENSP00000410176:A377T	ENSP00000303221:A406T	A	-	1	0	EYA1	72291607	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.688000	0.68227	2.785000	0.95823	0.655000	0.94253	GCA		0.438	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060	
CRISPLD1	83690	hgsc.bcm.edu	37	8	75929600	75929600	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr8:75929600A>C	ENST00000262207.4	+	10	1510	c.1042A>C	c.(1042-1044)Aat>Cat	p.N348H	CRISPLD1_ENST00000523524.1_Missense_Mutation_p.N160H|CRISPLD1_ENST00000517786.1_Missense_Mutation_p.N162H	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	348	LCCL 1. {ECO:0000255|PROSITE- ProRule:PRU00123}.				face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)		p.N348H(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			TATAATAGACAATGATGGTGG	0.338																																					p.N348H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1042C	8						.						122.0	132.0	129.0					8																	75929600		2203	4297	6500	76092155	SO:0001583	missense	83690	exon10			AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"""LCCL domain containing cysteine-rich secretory protein 1"""	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.1042A>C	8.37:g.75929600A>C	ENSP00000262207:p.Asn348His	Somatic		Capture	SOLID	Phase_I	76092155	NM_031461	B2RA60|B7Z929	Missense_Mutation	SNP	ENST00000262207.4	37	CCDS6219.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.507161	0.85282	.	.	ENSG00000121005	ENST00000262207;ENST00000523524;ENST00000517786	D;D;D	0.90069	-2.61;-2.61;-2.61	5.42	5.42	0.78866	LCCL (5);	0.052439	0.85682	D	0.000000	D	0.95111	0.8416	M	0.90198	3.095	0.58432	D	0.99999	D;D	0.71674	0.998;0.997	D;D	0.66979	0.948;0.946	D	0.95907	0.8920	10	0.72032	D	0.01	.	15.6293	0.76888	1.0:0.0:0.0:0.0	.	162;348	B7Z929;Q9H336	.;CRLD1_HUMAN	H	348;160;162	ENSP00000262207:N348H;ENSP00000430105:N160H;ENSP00000429746:N162H	ENSP00000262207:N348H	N	+	1	0	CRISPLD1	76092155	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.680000	0.91225	2.276000	0.75962	0.528000	0.53228	AAT		0.338	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379117.1	NM_031461	
TRAPPC9	83696	hgsc.bcm.edu	37	8	141370288	141370288	+	Silent	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr8:141370288C>T	ENST00000438773.2	-	9	1489	c.1356G>A	c.(1354-1356)acG>acA	p.T452T	TRAPPC9_ENST00000389327.3_Silent_p.T443T|TRAPPC9_ENST00000389328.4_Silent_p.T550T	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	452					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)		p.T550T(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						AGCCTCTGTGCGTGCCTGCGA	0.502																																					p.T452T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1356A	8						.						65.0	57.0	59.0					8																	141370288		2203	4300	6503	141439470	SO:0001819	synonymous_variant	83696	exon9			BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.1356G>A	8.37:g.141370288C>T		Somatic		Capture	SOLID	Phase_I	141439470	NM_001160372	Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Silent	SNP	ENST00000438773.2	37	CCDS55278.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.320209	0.23994	.	.	ENSG00000167632	ENST00000520857	.	.	.	5.62	-0.991	0.10235	.	.	.	.	.	T	0.38558	0.1045	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28364	-1.0046	4	.	.	.	.	0.1534	0.00096	0.3156:0.2505:0.1931:0.2408	.	.	.	.	T	296	.	.	A	-	1	0	TRAPPC9	141439470	0.787000	0.28750	0.851000	0.33527	0.950000	0.60333	-0.074000	0.11450	-0.060000	0.13132	0.655000	0.94253	GCA		0.502	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466	
AGL	178	hgsc.bcm.edu	37	1	100327163	100327163	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr1:100327163C>T	ENST00000294724.4	+	3	665	c.187C>T	c.(187-189)Cgt>Tgt	p.R63C	AGL_ENST00000361522.4_Missense_Mutation_p.R46C|AGL_ENST00000361302.3_Missense_Mutation_p.R47C|AGL_ENST00000370163.3_Missense_Mutation_p.R63C|AGL_ENST00000370161.2_Missense_Mutation_p.R47C|AGL_ENST00000370165.3_Missense_Mutation_p.R63C|AGL_ENST00000361915.3_Missense_Mutation_p.R63C	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	63					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)	p.R63C(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		AGAAAAATTCCGTTCTCTGGA	0.358																																					p.R46C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C136T	1	GRCh37	CD000241	AGL	D		.						65.0	68.0	67.0					1																	100327163		2203	4300	6503	100099751	SO:0001583	missense	178	exon1			BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.187C>T	1.37:g.100327163C>T	ENSP00000294724:p.Arg63Cys	Somatic		Capture	SOLID	Phase_I	100099751	NM_000645	A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	CCDS759.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.890678	0.72524	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74	4.97	4.06	0.47325	.	0.387349	0.28989	N	0.013491	T	0.46541	0.1398	M	0.78049	2.395	0.80722	D	1	D;D;D	0.59357	0.985;0.985;0.975	P;P;P	0.54100	0.742;0.655;0.556	T	0.51356	-0.8716	10	0.49607	T	0.09	.	8.4296	0.32750	0.1908:0.7256:0.0:0.0836	.	46;47;63	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	C	63;63;63;63;47;47;46	ENSP00000355106:R63C;ENSP00000359184:R63C;ENSP00000359182:R63C;ENSP00000294724:R63C;ENSP00000354971:R47C;ENSP00000359180:R47C;ENSP00000354635:R46C	ENSP00000294724:R63C	R	+	1	0	AGL	100099751	0.998000	0.40836	0.988000	0.46212	0.993000	0.82548	3.826000	0.55738	1.093000	0.41377	0.563000	0.77884	CGT		0.358	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028	
OLFM3	118427	hgsc.bcm.edu	37	1	102269877	102269877	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr1:102269877C>T	ENST00000338858.5	-	6	1353	c.1354G>A	c.(1354-1356)Gct>Act	p.A452T	OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000370103.4_Missense_Mutation_p.A432T|OLFM3_ENST00000462354.1_5'UTR			Q96PB7	NOE3_HUMAN	olfactomedin 3	452	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)		p.A432T(1)|p.A452T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		GCATAGAGAGCTCGATCTCTT	0.428																																					p.A432T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1294A	1						.						204.0	190.0	195.0					1																	102269877		2203	4300	6503	102042465	SO:0001583	missense	118427	exon6			AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.1354G>A	1.37:g.102269877C>T	ENSP00000345192:p.Ala452Thr	Somatic		Capture	SOLID	Phase_I	102042465	NM_058170	Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	ENST00000338858.5	37		.	.	.	.	.	.	.	.	.	.	C	24.7	4.564098	0.86335	.	.	ENSG00000118733	ENST00000370103;ENST00000338858	D;D	0.89552	-2.53;-2.53	5.77	5.77	0.91146	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.94341	0.8181	M	0.80982	2.52	0.80722	D	1	P;D	0.69078	0.624;0.997	B;D	0.80764	0.3;0.994	D	0.93640	0.6964	10	0.54805	T	0.06	.	19.9831	0.97336	0.0:1.0:0.0:0.0	.	432;452	Q5T3V6;Q96PB7	.;NOE3_HUMAN	T	432;452	ENSP00000359121:A432T;ENSP00000345192:A452T	ENSP00000345192:A452T	A	-	1	0	OLFM3	102042465	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.728000	0.93425	0.650000	0.86243	GCT		0.428	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1		
KCNA2	3737	hgsc.bcm.edu	37	1	111145944	111145944	+	Silent	SNP	T	T	C			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr1:111145944T>C	ENST00000485317.1	-	3	2134	c.1461A>G	c.(1459-1461)acA>acG	p.T487T	KCNA2_ENST00000316361.4_Silent_p.T487T|KCNA2_ENST00000440270.1_Silent_p.T487T|KCNA2_ENST00000369770.3_Intron|KCNA2_ENST00000525120.1_5'Flank			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	487					optic nerve structural organization (GO:0021633)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.T487T(1)		endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	Dalfampridine(DB06637)	TCACATAGTTTGTGTTAGCCA	0.378																																					p.T487T	Pancreas(18;568 735 10587 23710 36357)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1461G	1						.						200.0	193.0	195.0					1																	111145944		2203	4300	6503	110947467	SO:0001819	synonymous_variant	3737	exon2			L02752	CCDS827.1, CCDS55625.1	1p13	2012-07-05			ENSG00000177301	ENSG00000177301		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6220	protein-coding gene	gene with protein product		176262				16382104	Standard	NM_004974		Approved	Kv1.2, HK4	uc009wfw.3	P16389	OTTHUMG00000011567	ENST00000485317.1:c.1461A>G	1.37:g.111145944T>C		Somatic		Capture	SOLID	Phase_I	110947467	NM_004974	Q86XG6	Silent	SNP	ENST00000485317.1	37	CCDS827.1																																																																																				0.378	KCNA2-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128001.2	NM_004974	
SPEN	23013	hgsc.bcm.edu	37	1	16199451	16199451	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr1:16199451G>A	ENST00000375759.3	+	2	428	c.224G>A	c.(223-225)cGc>cAc	p.R75H		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	75	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.R75H(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AGAGACCTACGCACGGATTAT	0.488																																					p.R75H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G224A	1						.						126.0	119.0	121.0					1																	16199451		2203	4300	6503	16072038	SO:0001583	missense	23013	exon2				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.224G>A	1.37:g.16199451G>A	ENSP00000364912:p.Arg75His	Somatic		Capture	SOLID	Phase_I	16072038	NM_015001	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.959513	0.53400	.	.	ENSG00000065526	ENST00000375759	T	0.07327	3.2	5.7	5.7	0.88788	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	.	.	.	.	T	0.28764	0.0713	L	0.58969	1.84	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00226	-1.1900	9	0.87932	D	0	-4.3052	19.8477	0.96722	0.0:0.0:1.0:0.0	.	75	Q96T58	MINT_HUMAN	H	75	ENSP00000364912:R75H	ENSP00000364912:R75H	R	+	2	0	SPEN	16072038	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.704000	0.92352	0.650000	0.86243	CGC		0.488	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001	
SPEN	23013	hgsc.bcm.edu	37	1	16258069	16258069	+	Silent	SNP	C	C	T	rs147483037	byFrequency	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr1:16258069C>T	ENST00000375759.3	+	11	5538	c.5334C>T	c.(5332-5334)gaC>gaT	p.D1778D		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1778					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.D1778D(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAAAGCCAGACGCCACTGCAG	0.532													C|||	2	0.000399361	0.0	0.0	5008	,	,		17524	0.0		0.0	False		,,,				2504	0.002				p.D1778D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5334T	1						.	C		1,4405	2.1+/-5.4	0,1,2202	82.0	89.0	87.0		5334	-2.2	0.0	1	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SPEN	NM_015001.2		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		1778/3665	16258069	2,13004	2203	4300	6503	16130656	SO:0001819	synonymous_variant	23013	exon11				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.5334C>T	1.37:g.16258069C>T		Somatic		Capture	SOLID	Phase_I	16130656	NM_015001	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	ENST00000375759.3	37	CCDS164.1																																																																																				0.532	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001	
FCRLB	127943	hgsc.bcm.edu	37	1	161693367	161693367	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr1:161693367G>A	ENST00000367948.2	+	5	478	c.263G>A	c.(262-264)cGg>cAg	p.R88Q	FCRLB_ENST00000392158.1_Missense_Mutation_p.R88Q|FCRLB_ENST00000367945.1_Missense_Mutation_p.R81Q|FCRLB_ENST00000336830.5_Missense_Mutation_p.R88Q|FCRLB_ENST00000367944.3_Missense_Mutation_p.R81Q|FCRLB_ENST00000367946.3_Missense_Mutation_p.R88Q			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	88	Ig-like C2-type 1.				negative regulation of immune response (GO:0050777)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)		p.R88Q(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			TGCCAGACACGGGGAGCACCC	0.577																																					p.R88Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G263A	1						.						79.0	70.0	73.0					1																	161693367		2203	4300	6503	159959991	SO:0001583	missense	127943	exon3			AY670683	CCDS30927.1, CCDS72962.1, CCDS72963.1, CCDS72964.1, CCDS72965.1	1q23.3	2013-01-11	2006-09-26	2006-09-26	ENSG00000162746	ENSG00000162746		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26431	protein-coding gene	gene with protein product		609251	"""Fc receptor-like and mucin-like 2"""	FCRLM2		15676285	Standard	NM_001288829		Approved	FLJ31052, FCRL2, FREB-2, FCRLY	uc001gbi.3	Q6BAA4	OTTHUMG00000133629	ENST00000367948.2:c.263G>A	1.37:g.161693367G>A	ENSP00000356925:p.Arg88Gln	Somatic		Capture	SOLID	Phase_I	159959991	NM_001002901	A2A3J5|A2A3J7|Q5VXA6|Q6BAA0|Q6BAA1|Q6BAA2|Q6BAA3|Q8IXZ7	Missense_Mutation	SNP	ENST00000367948.2	37	CCDS30927.1	.	.	.	.	.	.	.	.	.	.	G	18.37	3.609319	0.66558	.	.	ENSG00000162746	ENST00000367948;ENST00000367946;ENST00000367945;ENST00000336830;ENST00000367944;ENST00000392158	T;T;T;T;T;T	0.12672	2.66;2.66;2.66;2.66;2.66;2.66	5.61	5.61	0.85477	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.47455	D	0.000221	T	0.11324	0.0276	N	0.16098	0.37	0.35562	D	0.804729	D;D;D;D;D	0.89917	0.979;1.0;0.991;1.0;1.0	P;D;P;D;D	0.85130	0.585;0.997;0.682;0.997;0.997	T	0.31052	-0.9957	10	0.17832	T	0.49	.	15.1472	0.72667	0.0:0.0:1.0:0.0	.	81;81;88;88;88	Q6BAA4-3;Q6BAA4-5;Q6BAA4-2;Q6BAA4-4;Q6BAA4	.;.;.;.;FCRLB_HUMAN	Q	88;88;81;88;81;88	ENSP00000356925:R88Q;ENSP00000356923:R88Q;ENSP00000356922:R81Q;ENSP00000338598:R88Q;ENSP00000356921:R81Q;ENSP00000375999:R88Q	ENSP00000338598:R88Q	R	+	2	0	FCRLB	159959991	0.997000	0.39634	1.000000	0.80357	0.983000	0.72400	2.189000	0.42621	2.629000	0.89072	0.655000	0.94253	CGG		0.577	FCRLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083585.1	NM_152378	
PADI1	29943	hgsc.bcm.edu	37	1	17552314	17552314	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr1:17552314G>T	ENST00000375471.4	+	5	509	c.417G>T	c.(415-417)tgG>tgT	p.W139C		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	139					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.W139C(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	AGAAAACCTGGCGCTGGGGCC	0.582																																					p.W139C	Esophageal Squamous(80;414 1257 4580 27746 50832)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G417T	1						.						64.0	70.0	68.0					1																	17552314		2203	4300	6503	17424901	SO:0001583	missense	29943	exon5			AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"""Peptidyl arginine deiminases"""	18367	protein-coding gene	gene with protein product	"""peptidylarginine deiminase type I"", ""protein-arginine deiminase type-1"", ""hPAD-colony 10"""	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.417G>T	1.37:g.17552314G>T	ENSP00000364620:p.Trp139Cys	Somatic		Capture	SOLID	Phase_I	17424901	NM_013358	A1L4K6|Q70SX6	Missense_Mutation	SNP	ENST00000375471.4	37	CCDS178.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751836	0.69533	.	.	ENSG00000142623	ENST00000375471	T	0.52295	0.67	4.91	4.91	0.64330	Protein-arginine deiminase (PAD), central domain (2);	0.000000	0.85682	D	0.000000	T	0.73938	0.3651	M	0.88979	2.995	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80398	-0.1399	10	0.87932	D	0	-16.5782	16.6708	0.85266	0.0:0.0:1.0:0.0	.	139	Q9ULC6	PADI1_HUMAN	C	139	ENSP00000364620:W139C	ENSP00000364620:W139C	W	+	3	0	PADI1	17424901	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	5.001000	0.63946	2.274000	0.75844	0.305000	0.20034	TGG		0.582	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006621.1	NM_013358	
MAEL	84944	hgsc.bcm.edu	37	1	166987188	166987188	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr1:166987188C>T	ENST00000367872.4	+	10	1277	c.1033C>T	c.(1033-1035)Cgt>Tgt	p.R345C	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.R314C	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	345					cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)	p.R345C(2)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						GGATGCAGGGCGTTACCAGGT	0.443																																					p.R345C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1033T	1						.						147.0	123.0	131.0					1																	166987188		2203	4300	6503	165253812	SO:0001583	missense	84944	exon10			AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"""cancer/testis antigen 128"", ""spermatogenesis associated 35"""	611368	"""maelstrom homolog (Drosophila)"""			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.1033C>T	1.37:g.166987188C>T	ENSP00000356846:p.Arg345Cys	Somatic		Capture	SOLID	Phase_I	165253812	NM_032858	B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Missense_Mutation	SNP	ENST00000367872.4	37	CCDS1257.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.224676	0.79576	.	.	ENSG00000143194	ENST00000367872;ENST00000367870;ENST00000447624;ENST00000537744	T;T;T	0.60672	0.17;0.22;0.55	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000015	T	0.58963	0.2159	L	0.29908	0.895	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.75484	0.959;0.986	T	0.63721	-0.6573	10	0.72032	D	0.01	.	15.3142	0.74059	0.0:1.0:0.0:0.0	.	314;345	E9JVC3;Q96JY0	.;MAEL_HUMAN	C	345;314;314;67	ENSP00000356846:R345C;ENSP00000356844:R314C;ENSP00000402143:R314C	ENSP00000356844:R314C	R	+	1	0	MAEL	165253812	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.056000	0.57448	2.697000	0.92050	0.555000	0.69702	CGT		0.443	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083239.1	NM_032858	
ASTN1	460	hgsc.bcm.edu	37	1	176999988	176999988	+	Silent	SNP	A	A	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr1:176999988A>T	ENST00000367654.3	-	4	1177	c.966T>A	c.(964-966)tcT>tcA	p.S322S	ASTN1_ENST00000424564.2_Silent_p.S322S|MIR488_ENST00000365739.2_RNA|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Silent_p.S322S|ASTN1_ENST00000361833.2_Silent_p.S322S	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	322					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.S322S(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGGAGGTGTGAGAGAGAAGGG	0.478																																					p.S322S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T966A	1						.						171.0	163.0	166.0					1																	176999988		2203	4300	6503	175266611	SO:0001819	synonymous_variant	460	exon4			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.966T>A	1.37:g.176999988A>T		Somatic		Capture	SOLID	Phase_I	175266611	NM_004319	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37																																																																																					0.478	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319	
AXDND1	126859	hgsc.bcm.edu	37	1	179504046	179504046	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr1:179504046G>C	ENST00000367618.3	+	25	3367	c.2980G>C	c.(2980-2982)Gaa>Caa	p.E994Q		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	994	Glu-rich.							p.E994Q(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						agaacaacaagaagaagaaga	0.328																																					p.E994Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2980C	1						.						50.0	54.0	53.0					1																	179504046		2135	4283	6418	177770669	SO:0001583	missense	126859	exon25			BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.2980G>C	1.37:g.179504046G>C	ENSP00000356590:p.Glu994Gln	Somatic		Capture	SOLID	Phase_I	177770669	NM_144696	Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	G	10.13	1.266099	0.23136	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000434088	T;T	0.18657	2.2;2.21	4.81	4.81	0.61882	.	0.325544	0.22135	N	0.064137	T	0.23572	0.0570	N	0.19112	0.55	0.80722	D	1	D;D	0.64830	0.982;0.994	P;P	0.56960	0.709;0.81	T	0.01330	-1.1383	10	0.21014	T	0.42	-2.7717	13.5575	0.61768	0.0:0.0:1.0:0.0	.	878;994	E9PCJ4;Q5T1B0	.;AXDN1_HUMAN	Q	994;878;854	ENSP00000356590:E994Q;ENSP00000391716:E854Q	ENSP00000353471:E878Q	E	+	1	0	AXDND1	177770669	0.000000	0.05858	0.079000	0.20413	0.028000	0.11728	0.055000	0.14229	2.655000	0.90218	0.530000	0.56133	GAA		0.328	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696	
ASPM	259266	hgsc.bcm.edu	37	1	197111913	197111913	+	Missense_Mutation	SNP	C	C	T	rs545470771	byFrequency	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr1:197111913C>T	ENST00000367409.4	-	3	1725	c.1469G>A	c.(1468-1470)cGt>cAt	p.R490H	ASPM_ENST00000294732.7_Missense_Mutation_p.R490H	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	490					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.R490H(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AAGTATTGGACGTCTCTTAGG	0.338													.|||	2	0.000399361	0.0015	0.0	5008	,	,		16810	0.0		0.0	False		,,,				2504	0.0				p.R490H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1469A	1						.						132.0	136.0	135.0					1																	197111913		2202	4300	6502	195378536	SO:0001583	missense	259266	exon3			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.1469G>A	1.37:g.197111913C>T	ENSP00000356379:p.Arg490His	Somatic		Capture	SOLID	Phase_I	195378536	NM_018136	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.341902	0.61073	.	.	ENSG00000066279	ENST00000367409;ENST00000294732	T;T	0.61158	0.13;1.4	5.44	4.53	0.55603	.	0.174918	0.41712	D	0.000822	T	0.67627	0.2913	M	0.69823	2.125	0.26787	N	0.969483	D;D	0.89917	1.0;1.0	P;P	0.61800	0.894;0.828	T	0.61138	-0.7123	10	0.46703	T	0.11	.	7.2906	0.26364	0.0:0.7116:0.1401:0.1483	.	490;490	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	H	490	ENSP00000356379:R490H;ENSP00000294732:R490H	ENSP00000294732:R490H	R	-	2	0	ASPM	195378536	0.929000	0.31497	0.998000	0.56505	0.713000	0.41058	1.699000	0.37804	1.417000	0.47077	0.643000	0.83706	CGT		0.338	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136	
NFASC	23114	hgsc.bcm.edu	37	1	204953205	204953205	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr1:204953205G>A	ENST00000404076.1	+	20	2880	c.2458G>A	c.(2458-2460)Gcc>Acc	p.A820T	NFASC_ENST00000367171.4_Missense_Mutation_p.A826T|NFASC_ENST00000360049.4_Missense_Mutation_p.A837T|NFASC_ENST00000338515.6_Missense_Mutation_p.A841T|NFASC_ENST00000338586.6_Missense_Mutation_p.A841T|NFASC_ENST00000513543.1_Missense_Mutation_p.A837T|NFASC_ENST00000367172.4_Missense_Mutation_p.A841T|NFASC_ENST00000539706.1_Missense_Mutation_p.A837T|NFASC_ENST00000401399.1_Intron|NFASC_ENST00000367170.4_Missense_Mutation_p.A841T|NFASC_ENST00000404907.1_Missense_Mutation_p.A837T|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000339876.6_Intron			O94856	NFASC_HUMAN	neurofascin	841	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)		p.A837T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GAACAGCACAGCCATCAGCCT	0.572																																					p.A852T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2554A	1						.						114.0	100.0	105.0					1																	204953205		2203	4300	6503	203219828	SO:0001583	missense	23114	exon20			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000404076.1:c.2458G>A	1.37:g.204953205G>A	ENSP00000385676:p.Ala820Thr	Somatic		Capture	SOLID	Phase_I	203219828	NM_001160331	B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	ENST00000404076.1	37		.	.	.	.	.	.	.	.	.	.	G	17.36	3.370551	0.61624	.	.	ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000404076;ENST00000404907;ENST00000513543;ENST00000430393	T;T;T;T;T;T;T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54	5.41	5.41	0.78517	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.50627	D	0.000104	T	0.44159	0.1280	L	0.33189	0.99	0.80722	D	1	B;B;B;B;B	0.32467	0.197;0.175;0.164;0.164;0.372	B;B;B;B;B	0.33042	0.157;0.07;0.097;0.097;0.097	T	0.28364	-1.0046	10	0.15499	T	0.54	.	18.7905	0.91973	0.0:0.0:1.0:0.0	.	841;852;837;826;837	O94856;O94856-11;O94856-8;F8W791;O94856-3	NFASC_HUMAN;.;.;.;.	T	841;826;841;841;841;852;837;837;820;837;837;828	ENSP00000356140:A841T;ENSP00000356139:A826T;ENSP00000356138:A841T;ENSP00000342128:A841T;ENSP00000343509:A841T;ENSP00000438614:A837T;ENSP00000353154:A837T;ENSP00000385676:A820T;ENSP00000384061:A837T;ENSP00000425908:A837T;ENSP00000415031:A828T	ENSP00000295776:A852T	A	+	1	0	NFASC	203219828	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.692000	0.68256	2.537000	0.85549	0.563000	0.77884	GCC		0.572	NFASC-012	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000131243.1	NM_001005388	
RAB3GAP2	25782	hgsc.bcm.edu	37	1	220324741	220324741	+	Missense_Mutation	SNP	T	T	C	rs548997075		TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr1:220324741T>C	ENST00000358951.2	-	35	4150	c.4034A>G	c.(4033-4035)cAg>cGg	p.Q1345R		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	1345					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)	p.Q1345R(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TTGAAGGTCCTGGGGGTCCTG	0.338													T|||	1	0.000199681	0.0008	0.0	5008	,	,		18584	0.0		0.0	False		,,,				2504	0.0				p.Q1345R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4034G	1						.						107.0	113.0	111.0					1																	220324741		2203	4300	6503	218391364	SO:0001583	missense	25782	exon35			AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.4034A>G	1.37:g.220324741T>C	ENSP00000351832:p.Gln1345Arg	Somatic		Capture	SOLID	Phase_I	218391364	NM_012414	A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	ENST00000358951.2	37	CCDS31028.1	.	.	.	.	.	.	.	.	.	.	T	13.77	2.335323	0.41398	.	.	ENSG00000118873	ENST00000358951	T	0.31247	1.5	5.83	5.83	0.93111	.	0.340768	0.34652	N	0.003788	T	0.24812	0.0602	L	0.29908	0.895	0.33570	D	0.598454	B	0.27416	0.178	B	0.26770	0.073	T	0.30001	-0.9993	10	0.33141	T	0.24	.	14.7851	0.69796	0.0:0.0:0.0:1.0	.	1345	Q9H2M9	RBGPR_HUMAN	R	1345	ENSP00000351832:Q1345R	ENSP00000351832:Q1345R	Q	-	2	0	RAB3GAP2	218391364	0.991000	0.36638	1.000000	0.80357	0.866000	0.49608	2.344000	0.44010	2.224000	0.72417	0.528000	0.53228	CAG		0.338	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414	
HEATR1	55127	hgsc.bcm.edu	37	1	236761267	236761267	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr1:236761267G>A	ENST00000366582.3	-	5	628	c.514C>T	c.(514-516)Ccg>Tcg	p.P172S	HEATR1_ENST00000366581.2_Missense_Mutation_p.P172S|HEATR1_ENST00000483073.1_5'UTR	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	172					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.P172S(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTAGCTAACGGCACTCCAGAT	0.373																																					p.P172S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C514T	1						.						140.0	127.0	132.0					1																	236761267		2203	4300	6503	234827890	SO:0001583	missense	55127	exon5			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.514C>T	1.37:g.236761267G>A	ENSP00000355541:p.Pro172Ser	Somatic		Capture	SOLID	Phase_I	234827890	NM_018072	Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.824106	0.90873	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.39997	1.05;1.05	5.7	5.7	0.88788	.	0.051971	0.85682	D	0.000000	T	0.49626	0.1568	L	0.42008	1.315	0.80722	D	1	D	0.61080	0.989	P	0.52823	0.71	T	0.24048	-1.0171	10	0.25751	T	0.34	.	19.8243	0.96610	0.0:0.0:1.0:0.0	.	172	Q9H583	HEAT1_HUMAN	S	172	ENSP00000355541:P172S;ENSP00000355540:P172S	ENSP00000355540:P172S	P	-	1	0	HEATR1	234827890	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	8.922000	0.92789	2.692000	0.91855	0.467000	0.42956	CCG		0.373	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853	
RGS7	6000	hgsc.bcm.edu	37	1	240978053	240978053	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr1:240978053C>T	ENST00000407727.1	-	11	807	c.808G>A	c.(808-810)Gat>Aat	p.D270N	RGS7_ENST00000348120.2_Missense_Mutation_p.D217N|RGS7_ENST00000331110.7_Missense_Mutation_p.D244N|RGS7_ENST00000401882.1_Missense_Mutation_p.D217N|RGS7_ENST00000446183.2_Missense_Mutation_p.D186N|RGS7_ENST00000366563.1_Missense_Mutation_p.D270N|RGS7_ENST00000366565.1_Missense_Mutation_p.D270N|RGS7_ENST00000366562.4_Missense_Mutation_p.D270N|RGS7_ENST00000366564.1_Missense_Mutation_p.D270N			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	270	G protein gamma.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.D270N(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CGATGTCTATCTAACTGTATT	0.299																																					p.D270N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G808A	1						.						108.0	113.0	111.0					1																	240978053		2202	4298	6500	239044676	SO:0001583	missense	6000	exon12			BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.808G>A	1.37:g.240978053C>T	ENSP00000384428:p.Asp270Asn	Somatic		Capture	SOLID	Phase_I	239044676	NM_002924	Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	ENST00000407727.1	37		.	.	.	.	.	.	.	.	.	.	C	29.7	5.024512	0.93518	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56	6.06	6.06	0.98353	G-protein gamma domain (4);	0.000000	0.85682	D	0.000000	T	0.52964	0.1767	L	0.58925	1.835	0.58432	D	0.999998	D;D;D;D;D;B;D	0.89917	0.985;0.999;1.0;0.981;0.999;0.367;0.999	D;D;D;P;D;B;D	0.74023	0.944;0.981;0.982;0.908;0.967;0.092;0.981	T	0.23619	-1.0183	10	0.27785	T	0.31	-14.5676	19.609	0.95594	0.0:1.0:0.0:0.0	.	186;244;217;270;270;270;270	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3;P49802	.;.;.;.;.;.;RGS7_HUMAN	N	244;270;270;270;101;217;186;270;270;217	ENSP00000331485:D244N;ENSP00000355523:D270N;ENSP00000355522:D270N;ENSP00000355521:D270N;ENSP00000404399:D101N;ENSP00000341242:D217N;ENSP00000390138:D186N;ENSP00000355520:D270N;ENSP00000384428:D270N;ENSP00000385508:D217N	ENSP00000331485:D244N	D	-	1	0	RGS7	239044676	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.089000	0.71384	2.882000	0.98803	0.655000	0.94253	GAT		0.299	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924	
TMEM57	55219	hgsc.bcm.edu	37	1	25824847	25824847	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr1:25824847G>A	ENST00000374343.4	+	11	2064	c.1885G>A	c.(1885-1887)Gcc>Acc	p.A629T	TMEM57_ENST00000399766.3_Missense_Mutation_p.A402T|TMEM57_ENST00000399763.3_Missense_Mutation_p.A271T	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	629					brain development (GO:0007420)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|synapse (GO:0045202)		p.A629T(2)		breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		ATACAGTGCCGCCACCAGCCC	0.522																																					p.A629T												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G1885A	1						.						99.0	87.0	91.0					1																	25824847		2203	4300	6503	25697434	SO:0001583	missense	55219	exon11			AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178			25572	protein-coding gene	gene with protein product		610301				12459264, 15255972	Standard	XM_005245931		Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.1885G>A	1.37:g.25824847G>A	ENSP00000363463:p.Ala629Thr	Somatic		Capture	SOLID	Phase_I	25697434	NM_018202	B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Missense_Mutation	SNP	ENST00000374343.4	37	CCDS30638.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.402690	0.25291	.	.	ENSG00000204178	ENST00000399766;ENST00000399763;ENST00000374343	D	0.82167	-1.58	5.36	4.45	0.53987	.	0.163822	0.53938	N	0.000045	T	0.74779	0.3761	L	0.38175	1.15	0.37882	D	0.93041	P;D;B	0.54047	0.642;0.964;0.331	B;B;B	0.43274	0.039;0.414;0.057	T	0.73350	-0.4010	10	0.13470	T	0.59	-3.4149	13.2808	0.60212	0.077:0.0:0.923:0.0	.	271;402;629	Q8N5G2-2;Q8N5G2-3;Q8N5G2	.;.;MACOI_HUMAN	T	402;271;629	ENSP00000382668:A402T	ENSP00000363463:A629T	A	+	1	0	TMEM57	25697434	1.000000	0.71417	0.918000	0.36340	0.995000	0.86356	5.142000	0.64820	1.247000	0.43917	0.591000	0.81541	GCC		0.522	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009659.2	NM_018202	
WDTC1	23038	hgsc.bcm.edu	37	1	27620582	27620582	+	Silent	SNP	C	C	T	rs144990851		TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr1:27620582C>T	ENST00000319394.3	+	8	1267	c.732C>T	c.(730-732)gaC>gaT	p.D244D	WDTC1_ENST00000361771.3_Silent_p.D244D	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	244					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)	p.D244D(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CCCTTCCGGACGGTGCAGCCC	0.557																																					p.D244D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C732T	1						.	T		0,4406		0,0,2203	75.0	70.0	71.0		732	-2.5	0.9	1	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	WDTC1	NM_015023.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		244/677	27620582	1,13005	2203	4300	6503	27493169	SO:0001819	synonymous_variant	23038	exon8			AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29175	protein-coding gene	gene with protein product	"""adipose homolog (Drosophila)"", ""DDB1 and CUL4 associated factor 9"""					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.732C>T	1.37:g.27620582C>T		Somatic		Capture	SOLID	Phase_I	27493169	NM_015023	D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Silent	SNP	ENST00000319394.3	37																																																																																					0.557	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015023	
PUM1	9698	hgsc.bcm.edu	37	1	31409523	31409523	+	Silent	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr1:31409523C>T	ENST00000257075.5	-	21	3489	c.3396G>A	c.(3394-3396)gcG>gcA	p.A1132A	PUM1_ENST00000373747.3_Silent_p.A1135A|PUM1_ENST00000424085.2_Silent_p.A890A|PUM1_ENST00000423018.2_Silent_p.A990A|PUM1_ENST00000373741.4_Silent_p.A1170A|PUM1_ENST00000373742.2_Silent_p.A1073A|PUM1_ENST00000426105.2_Silent_p.A1134A|PUM1_ENST00000440538.2_Silent_p.A1108A|SNORD103A_ENST00000363284.1_RNA	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	1132	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.				membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)	p.A1132A(2)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		GGCCTGGCTCCGCCACGTCAA	0.542																																					p.A1134A												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.G3402A	1						.						100.0	77.0	85.0					1																	31409523		2203	4300	6503	31182110	SO:0001819	synonymous_variant	9698	exon21			AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"""pumilio (Drosophila) homolog 1"", ""pumilio homolog 1 (Drosophila)"""				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.3396G>A	1.37:g.31409523C>T		Somatic		Capture	SOLID	Phase_I	31182110	NM_001020658	A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Silent	SNP	ENST00000257075.5	37	CCDS338.1	.	.	.	.	.	.	.	.	.	.	C	9.984	1.228905	0.22542	.	.	ENSG00000134644	ENST00000525843;ENST00000498419	.	.	.	5.77	-8.54	0.00912	.	.	.	.	.	T	0.34978	0.0916	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43458	-0.9390	4	.	.	.	-7.9342	2.6823	0.05098	0.1523:0.3424:0.1201:0.3851	.	.	.	.	R	1071;846	.	.	G	-	1	0	PUM1	31182110	0.000000	0.05858	0.895000	0.35142	0.966000	0.64601	-3.466000	0.00461	-1.164000	0.02790	-0.455000	0.05494	GGA		0.542	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1		
YARS	8565	hgsc.bcm.edu	37	1	33246690	33246690	+	Missense_Mutation	SNP	G	G	A	rs376054085		TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr1:33246690G>A	ENST00000373477.4	-	10	2007	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W	YARS_ENST00000469100.1_5'UTR	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	367	tRNA-binding. {ECO:0000255|PROSITE- ProRule:PRU00209}.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)|tyrosyl-tRNA aminoacylation (GO:0006437)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|interleukin-8 receptor binding (GO:0005153)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)|tRNA binding (GO:0000049)|tyrosine-tRNA ligase activity (GO:0004831)	p.R367W(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	ATATCCAGCCGGGATGGGATG	0.507													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20105	0.0		0.0	False		,,,				2504	0.0				p.R367W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1099T	1						.	G	TRP/ARG	0,4406		0,0,2203	135.0	123.0	127.0		1099	5.5	1.0	1		127	1,8599	1.2+/-3.3	0,1,4299	no	missense	YARS	NM_003680.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	367/529	33246690	1,13005	2203	4300	6503	33019277	SO:0001583	missense	8565	exon10			U89436	CCDS368.1	1p35.1	2014-09-17			ENSG00000134684	ENSG00000134684	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	12840	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 1, cytoplasmic"""	603623				8552597, 9162081	Standard	NM_003680		Approved	YTS, YRS, tyrRS	uc001bvy.1	P54577	OTTHUMG00000003933	ENST00000373477.4:c.1099C>T	1.37:g.33246690G>A	ENSP00000362576:p.Arg367Trp	Somatic		Capture	SOLID	Phase_I	33019277	NM_003680	B3KWK4|D3DPQ4|O43276|Q53EN1	Missense_Mutation	SNP	ENST00000373477.4	37	CCDS368.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.553167	0.86127	0.0	1.16E-4	ENSG00000134684	ENST00000373477	T	0.74002	-0.8	5.47	5.47	0.80525	Nucleic acid-binding, OB-fold-like (1);tRNA-binding domain (1);Nucleic acid-binding, OB-fold (1);	0.158003	0.56097	D	0.000034	D	0.88463	0.6443	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.67725	0.953	D	0.90284	0.4317	10	0.72032	D	0.01	-13.3449	17.8828	0.88845	0.0:0.0:1.0:0.0	.	367	P54577	SYYC_HUMAN	W	367	ENSP00000362576:R367W	ENSP00000362576:R367W	R	-	1	2	YARS	33019277	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.473000	0.73572	2.735000	0.93741	0.591000	0.81541	CGG		0.507	YARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011225.1	NM_003680	
CDCA8	55143	hgsc.bcm.edu	37	1	38166110	38166110	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr1:38166110C>T	ENST00000373055.1	+	5	613	c.340C>T	c.(340-342)Cga>Tga	p.R114*	CDCA8_ENST00000327331.2_Nonsense_Mutation_p.R114*	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN	cell division cycle associated 8	114	Required for interaction with SENP3.				chromosome organization (GO:0051276)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)	chromocenter (GO:0010369)|chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)		p.R114*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCTTACAGCACGAAAGGTAAT	0.348																																					p.R114X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C340T	1						.						104.0	104.0	104.0					1																	38166110		2203	4300	6503	37938697	SO:0001587	stop_gained	55143	exon6			BG354581	CCDS424.1	1p34.3	2013-01-17			ENSG00000134690	ENSG00000134690			14629	protein-coding gene	gene with protein product	"""borealin"""	609977				12188893, 15260989	Standard	NM_001256875		Approved	FLJ12042, MESRGP, BOR, DasraB	uc001cbs.4	Q53HL2	OTTHUMG00000004320	ENST00000373055.1:c.340C>T	1.37:g.38166110C>T	ENSP00000362146:p.Arg114*	Somatic		Capture	SOLID	Phase_I	37938697	NM_018101	D3DPT4|Q53HN1|Q96AM3|Q9NVW5	Nonsense_Mutation	SNP	ENST00000373055.1	37	CCDS424.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.431652	0.62844	.	.	ENSG00000134690	ENST00000373055;ENST00000327331	.	.	.	4.25	3.25	0.37280	.	0.525914	0.18055	N	0.153149	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.4475	8.7663	0.34704	0.2252:0.7748:0.0:0.0	.	.	.	.	X	114	.	ENSP00000316121:R114X	R	+	1	2	CDCA8	37938697	0.998000	0.40836	0.997000	0.53966	0.271000	0.26615	1.103000	0.31062	2.356000	0.79943	0.650000	0.86243	CGA		0.348	CDCA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012473.1	NM_018101	
ST3GAL3	6487	hgsc.bcm.edu	37	1	44395838	44395838	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr1:44395838T>C	ENST00000361392.4	+	12	1250	c.1073T>C	c.(1072-1074)tTt>tCt	p.F358S	ST3GAL3_ENST00000372375.2_Missense_Mutation_p.F412S|ST3GAL3_ENST00000347631.2_Missense_Mutation_p.F373S|ST3GAL3_ENST00000531816.1_Missense_Mutation_p.F97L|ST3GAL3_ENST00000372377.4_3'UTR|ST3GAL3_ENST00000372367.1_Missense_Mutation_p.F197L|ST3GAL3_ENST00000330208.2_Silent_p.V144V|ST3GAL3_ENST00000372368.2_Missense_Mutation_p.F412S|ST3GAL3_ENST00000353126.3_Missense_Mutation_p.F260S|ST3GAL3_ENST00000335430.6_3'UTR|ST3GAL3_ENST00000332628.6_Missense_Mutation_p.F327S|ST3GAL3_ENST00000262915.3_Missense_Mutation_p.F427S|ST3GAL3_ENST00000372366.1_3'UTR|ST3GAL3_ENST00000372362.2_Silent_p.V144V|ST3GAL3_ENST00000533933.1_Missense_Mutation_p.F260S|ST3GAL3_ENST00000361812.4_Silent_p.V159V|ST3GAL3_ENST00000545417.1_Silent_p.V159V|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.F396S|ST3GAL3_ENST00000361400.4_Missense_Mutation_p.F342S|ST3GAL3_ENST00000531451.1_Silent_p.V128V|ST3GAL3_ENST00000372365.1_3'UTR|ST3GAL3_ENST00000372369.1_Missense_Mutation_p.F328S|ST3GAL3_ENST00000372374.2_Missense_Mutation_p.F327S|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.F427S|ST3GAL3_ENST00000528371.1_Missense_Mutation_p.F182L|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.F396S|ST3GAL3_ENST00000531993.1_Missense_Mutation_p.F244S	NM_001270459.1|NM_006279.3|NM_174964.2	NP_001257388.1|NP_006270.1|NP_777624.1	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	358					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|N-acetyllactosaminide alpha-2,3-sialyltransferase activity (GO:0008118)	p.F427S(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				GAGAAAGAGTTTCTGCGGAAG	0.552																																					p.F373S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1118C	1						.						192.0	178.0	183.0					1																	44395838		2203	4300	6503	44168425	SO:0001583	missense	6487	exon12			L23768	CCDS492.1, CCDS493.1, CCDS494.1, CCDS495.1, CCDS496.1, CCDS497.1, CCDS498.1, CCDS499.1, CCDS500.1, CCDS53310.1, CCDS57988.1, CCDS57989.1, CCDS57990.1, CCDS57991.1, CCDS57992.1, CCDS57993.1, CCDS57994.1	1p34.1	2014-01-31	2005-02-07	2005-02-07	ENSG00000126091	ENSG00000126091	2.4.99.6	"""Sialyltransferases"""	10866	protein-coding gene	gene with protein product	"""ST3Gal III"""	606494	"""sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase)"", ""mental retardation, non-syndromic, autosomal recessive, 12"""	SIAT6, MRT12		8333853, 21907012	Standard	NM_174963		Approved		uc001cjz.4	Q11203	OTTHUMG00000007561	ENST00000361392.4:c.1073T>C	1.37:g.44395838T>C	ENSP00000355341:p.Phe358Ser	Somatic		Capture	SOLID	Phase_I	44168425	NM_174964	A9Z1W2|D3DPX8|Q5T4W9|Q5T4X0|Q5T4X7|Q5T4X8|Q5T4X9|Q5T4Y0|Q5T4Y2|Q5T4Y3|Q5T4Y4|Q86UR6|Q86UR7|Q86UR8|Q86UR9|Q86US0|Q86US1|Q86US2|Q8IX41|Q8IX42|Q8IX43|Q8IX44|Q8IX45|Q8IX46|Q8IX47|Q8IX48|Q8IX49|Q8IX50|Q8IX51|Q8IX52|Q8IX53|Q8IX54|Q8IX55|Q8IX56|Q8IX57|Q8IX58	Missense_Mutation	SNP	ENST00000361392.4	37	CCDS492.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.52|14.52	2.560053|2.560053	0.45590|0.45590	.|.	.|.	ENSG00000126091|ENSG00000126091	ENST00000372367;ENST00000528371;ENST00000531816|ENST00000361392;ENST00000361400;ENST00000262915;ENST00000372375;ENST00000351035;ENST00000372374;ENST00000353126;ENST00000347631;ENST00000372369;ENST00000361746;ENST00000372368;ENST00000372372;ENST00000531993;ENST00000533933;ENST00000332628	T;T;T|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.75821|0.60424	-0.02;0.58;-0.97|1.49;1.49;1.49;1.49;1.49;1.49;1.63;1.49;1.49;1.49;1.49;1.49;0.19;1.63;1.49	4.5|4.5	4.5|4.5	0.54988|0.54988	.|.	0.056658|0.056658	0.64402|0.64402	D|D	0.000001|0.000001	T|T	0.75012|0.75012	0.3792|0.3792	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B;B;B|D;D;D;D;D;D;D;D;D;D;D;D	0.31817|0.89917	0.017;0.341;0.017|1.0;1.0;0.981;0.981;1.0;0.981;0.999;1.0;1.0;1.0;0.999;1.0	B;B;B|D;D;D;D;D;D;D;D;D;D;D;D	0.27500|0.91635	0.015;0.08;0.022|0.999;0.999;0.959;0.959;0.987;0.959;0.999;0.999;0.996;0.993;0.99;0.999	T|T	0.78553|0.78553	-0.2160|-0.2160	9|9	0.87932|0.66056	D|D	0|0.02	.|.	13.2177|13.2177	0.59869|0.59869	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	97;182;197|373;328;213;244;327;260;396;342;412;358;427;373	Q11203-22;Q11203-17;Q11203-24|Q11203-2;Q11203-5;Q11203-21;Q11203-16;Q11203-7;Q11203-8;Q11203-19;Q11203-15;Q11203-13;Q11203;Q11203-4;Q5T4W8	.;.;.|.;.;.;.;.;.;.;.;.;SIAT6_HUMAN;.;.	L|S	197;182;97|358;342;427;412;396;327;260;373;328;427;412;396;244;260;327	ENSP00000361442:F197L;ENSP00000434876:F182L;ENSP00000434378:F97L|ENSP00000355341:F358S;ENSP00000354748:F342S;ENSP00000262915:F427S;ENSP00000361450:F412S;ENSP00000316999:F396S;ENSP00000361449:F327S;ENSP00000330463:F260S;ENSP00000317192:F373S;ENSP00000361444:F328S;ENSP00000354657:F427S;ENSP00000361443:F412S;ENSP00000361447:F396S;ENSP00000432682:F244S;ENSP00000432965:F260S;ENSP00000329755:F327S	ENSP00000361442:F197L|ENSP00000262915:F427S	F|F	+|+	1|2	0|0	ST3GAL3|ST3GAL3	44168425|44168425	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	5.528000|5.528000	0.67129|0.67129	2.028000|2.028000	0.59812|0.59812	0.482000|0.482000	0.46254|0.46254	TTC|TTT		0.552	ST3GAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019964.1	NM_174963	
YIPF1	54432	hgsc.bcm.edu	37	1	54331941	54331941	+	Nonsense_Mutation	SNP	G	G	A	rs141323348		TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr1:54331941G>A	ENST00000072644.1	-	9	1099	c.763C>T	c.(763-765)Cga>Tga	p.R255*	YIPF1_ENST00000469457.1_5'UTR|YIPF1_ENST00000539954.1_Nonsense_Mutation_p.R280*|YIPF1_ENST00000371399.1_Nonsense_Mutation_p.R72*	NM_018982.4	NP_061855.1	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	255						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)		p.R255*(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						GCAACGCGTCGGTTATCCTCA	0.488																																					p.R255X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C763T	1						.	G	stop/ARG	0,4406		0,0,2203	107.0	90.0	96.0		763	5.6	1.0	1	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained	YIPF1	NM_018982.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		255/307	54331941	1,13005	2203	4300	6503	54104529	SO:0001587	stop_gained	54432	exon9			BC009674	CCDS584.1	1p33-p32.1	2008-02-05			ENSG00000058799	ENSG00000058799		"""Yip1 domain family"""	25231	protein-coding gene	gene with protein product						12477932	Standard	NM_018982		Approved	DJ167A19.1, FinGER1	uc001cvu.3	Q9Y548	OTTHUMG00000008074	ENST00000072644.1:c.763C>T	1.37:g.54331941G>A	ENSP00000072644:p.Arg255*	Somatic		Capture	SOLID	Phase_I	54104529	NM_018982	B2RCM7|D3DQ40|Q9NWJ1	Nonsense_Mutation	SNP	ENST00000072644.1	37	CCDS584.1	.	.	.	.	.	.	.	.	.	.	G	35	5.531805	0.96446	0.0	1.16E-4	ENSG00000058799	ENST00000371399;ENST00000072644;ENST00000539954	.	.	.	5.63	5.63	0.86233	.	0.055756	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-21.8567	19.7096	0.96089	0.0:0.0:1.0:0.0	.	.	.	.	X	72;255;280	.	ENSP00000072644:R255X	R	-	1	2	YIPF1	54104529	1.000000	0.71417	1.000000	0.80357	0.439000	0.31926	4.910000	0.63321	2.652000	0.90054	0.655000	0.94253	CGA		0.488	YIPF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022103.5	NM_018982	
ZRANB2	9406	hgsc.bcm.edu	37	1	71537804	71537804	+	Splice_Site	SNP	C	C	A			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr1:71537804C>A	ENST00000370920.3	-	6	814	c.513G>T	c.(511-513)gaG>gaT	p.E171D	ZRANB2_ENST00000254821.6_Splice_Site_p.E171D	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	171	Required for nuclear targeting.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E171D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						AATTGTTCACCTCATCTAACT	0.348																																					p.E171D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G513T	1						.						96.0	104.0	102.0					1																	71537804		2203	4300	6503	71310392	SO:0001630	splice_region_variant	9406	exon6			AF065391	CCDS659.1, CCDS660.1	1p31	2008-02-05	2006-06-28	2006-06-28	ENSG00000132485	ENSG00000132485		"""Zinc fingers, RAN-binding domain containing"""	13058	protein-coding gene	gene with protein product		604347	"""zinc finger protein 265"""	ZNF265		9931435	Standard	NM_005455		Approved	ZIS, ZIS1, ZIS2	uc001dft.3	O95218	OTTHUMG00000009660	ENST00000370920.3:c.513+1G>T	1.37:g.71537804C>A		Somatic		Capture	SOLID	Phase_I	71310392	NM_005455	D3DQ75|Q53GS3|Q59F92|Q5VV33|Q5VV34|Q8IXN6|Q9UP63	Missense_Mutation	SNP	ENST00000370920.3	37	CCDS659.1	.	.	.	.	.	.	.	.	.	.	C	5.689	0.311719	0.10789	.	.	ENSG00000132485	ENST00000370920;ENST00000254821	T;T	0.64803	-0.09;-0.12	5.56	5.56	0.83823	.	0.107964	0.64402	D	0.000006	T	0.22322	0.0538	N	0.04203	-0.255	0.47065	D	0.999306	B;B	0.02656	0.0;0.0	B;B	0.09377	0.0;0.004	T	0.15037	-1.0451	9	.	.	.	.	14.3821	0.66919	0.1478:0.8522:0.0:0.0	.	171;171	O95218;O95218-2	ZRAB2_HUMAN;.	D	171	ENSP00000359958:E171D;ENSP00000254821:E171D	.	E	-	3	2	ZRANB2	71310392	1.000000	0.71417	1.000000	0.80357	0.188000	0.23474	3.570000	0.53834	2.619000	0.88677	0.460000	0.39030	GAG		0.348	ZRANB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026636.1	NM_203350	Missense_Mutation
NEGR1	257194	hgsc.bcm.edu	37	1	72058513	72058513	+	Silent	SNP	G	G	A			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr1:72058513G>A	ENST00000357731.5	-	6	1166	c.927C>T	c.(925-927)agC>agT	p.S309S	NEGR1_ENST00000434200.1_Silent_p.S263S|NEGR1_ENST00000306821.3_Silent_p.S181S	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	309	Ig-like C2-type 3.				feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.S309S(1)		endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		TAAGAGGCAGGCTCGCATTGG	0.483																																					p.S309S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C927T	1						.						125.0	125.0	125.0					1																	72058513		2203	4300	6503	71831101	SO:0001819	synonymous_variant	257194	exon6			AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"""Immunoglobulin superfamily / I-set domain containing"""	17302	protein-coding gene	gene with protein product	"""a kindred of IgLON"", ""neurotractin"", ""IgLON family member 4"""	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.927C>T	1.37:g.72058513G>A		Somatic		Capture	SOLID	Phase_I	71831101	NM_173808	Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Silent	SNP	ENST00000357731.5	37	CCDS661.1																																																																																				0.483	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026722.4	NM_173808	
MSH4	4438	hgsc.bcm.edu	37	1	76378572	76378572	+	Nonstop_Mutation	SNP	A	A	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr1:76378572A>T	ENST00000263187.3	+	20	2915	c.2811A>T	c.(2809-2811)taA>taT	p.*937Y		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	0					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)	p.*937Y(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						CTGAAGAATAATCACAATTCT	0.289								Mismatch excision repair (MMR)																													p.X937Y												.	.	1	Nonstop extension(1)	large_intestine(1)	c.A2811T	1						.						30.0	33.0	32.0					1																	76378572		2197	4298	6495	76151160	SO:0001578	stop_lost	4438	exon20			U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.2811A>T	1.37:g.76378572A>T	ENSP00000263187:p.*937Tyrext*4	Somatic		Capture	SOLID	Phase_I	76151160	NM_002440	Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	ENST00000263187.3	37	CCDS670.1	.	.	.	.	.	.	.	.	.	.	A	1.132	-0.652080	0.03506	.	.	ENSG00000057468	ENST00000263187	.	.	.	4.79	-0.362	0.12560	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.0622	0.19844	0.5914:0.1255:0.2831:0.0	.	.	.	.	Y	937	.	.	X	+	3	2	MSH4	76151160	0.025000	0.19082	0.012000	0.15200	0.107000	0.19398	0.629000	0.24538	-0.160000	0.11002	-0.605000	0.04089	TAA		0.289	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440	
ST6GALNAC5	81849	hgsc.bcm.edu	37	1	77528665	77528665	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr1:77528665C>T	ENST00000477717.1	+	5	1020	c.785C>T	c.(784-786)cCc>cTc	p.P262L		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	262					glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)	p.P262L(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						TACAGGGATCCCAATCACCCT	0.373																																					p.P262L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C785T	1						.						102.0	101.0	102.0					1																	77528665		2203	4300	6503	77301253	SO:0001583	missense	81849	exon5				CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"""Sialyltransferases"""	19342	protein-coding gene	gene with protein product		610134	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"""	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.785C>T	1.37:g.77528665C>T	ENSP00000417583:p.Pro262Leu	Somatic		Capture	SOLID	Phase_I	77301253	NM_030965	B1AK82	Missense_Mutation	SNP	ENST00000477717.1	37	CCDS673.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063649	0.76187	.	.	ENSG00000117069	ENST00000477717;ENST00000438953	T	0.28666	1.6	6.08	4.22	0.49857	.	0.268840	0.44097	D	0.000488	T	0.17023	0.0409	L	0.39566	1.225	0.54753	D	0.999987	P	0.34815	0.47	B	0.39590	0.304	T	0.02617	-1.1133	10	0.24483	T	0.36	-15.2148	17.2029	0.86910	0.0:0.7622:0.2378:0.0	.	262	Q9BVH7	SIA7E_HUMAN	L	262;172	ENSP00000417583:P262L	ENSP00000406658:P172L	P	+	2	0	ST6GALNAC5	77301253	1.000000	0.71417	0.983000	0.44433	0.994000	0.84299	3.021000	0.49651	0.909000	0.36697	-0.122000	0.15005	CCC		0.373	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	NM_030965	
OR2L13	284521	hgsc.bcm.edu	37	1	248263443	248263443	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr1:248263443T>C	ENST00000358120.2	+	2	911	c.766T>C	c.(766-768)Tac>Cac	p.Y256H	OR2L13_ENST00000366478.2_Missense_Mutation_p.Y256H			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	256						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y256H(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			ACCTTTTGTCTACACCTATCT	0.453																																					p.Y256H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T766C	1						.						136.0	132.0	133.0					1																	248263443		2203	4300	6503	246330066	SO:0001583	missense	284521	exon3			BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.766T>C	1.37:g.248263443T>C	ENSP00000350836:p.Tyr256His	Somatic		Capture	SOLID	Phase_I	246330066	NM_175911	Q5VUR5	Missense_Mutation	SNP	ENST00000358120.2	37	CCDS1637.1	.	.	.	.	.	.	.	.	.	.	T	10.92	1.487596	0.26686	.	.	ENSG00000196071	ENST00000366478;ENST00000358120	T;T	0.00123	8.7;8.7	4.08	4.08	0.47627	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42294	D	0.000736	T	0.00468	0.0015	M	0.87971	2.92	0.09310	N	1	D	0.60160	0.987	P	0.62298	0.9	T	0.27839	-1.0062	10	0.87932	D	0	.	12.1525	0.54057	0.0:0.0:0.0:1.0	.	256	Q8N349	OR2LD_HUMAN	H	256	ENSP00000355434:Y256H;ENSP00000350836:Y256H	ENSP00000350836:Y256H	Y	+	1	0	OR2L13	246330066	0.105000	0.21958	0.011000	0.14972	0.294000	0.27393	2.539000	0.45718	1.680000	0.50976	0.454000	0.30748	TAC		0.453	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911	
ANGPTL5	253935	hgsc.bcm.edu	37	11	101765644	101765644	+	Silent	SNP	A	A	G			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr11:101765644A>G	ENST00000334289.3	-	8	1408	c.813T>C	c.(811-813)ttT>ttC	p.F271F		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	271	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular region (GO:0005576)		p.F271F(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		AGTGCATTTTAAAAAATCTCG	0.318																																					p.F271F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T813C	11						.						80.0	82.0	82.0					11																	101765644		2202	4298	6500	101270854	SO:0001819	synonymous_variant	253935	exon8			BC049170	CCDS8312.1	11q22.2	2013-02-06				ENSG00000187151		"""Fibrinogen C domain containing"""	19705	protein-coding gene	gene with protein product		607666				12624729	Standard	NM_178127		Approved		uc001pgl.3	Q86XS5		ENST00000334289.3:c.813T>C	11.37:g.101765644A>G		Somatic		Capture	SOLID	Phase_I	101270854	NM_178127	A8K658|Q86VR9	Silent	SNP	ENST00000334289.3	37	CCDS8312.1																																																																																				0.318	ANGPTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394138.1	NM_178127	
CWF19L2	143884	hgsc.bcm.edu	37	11	107219775	107219775	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr11:107219775T>A	ENST00000282251.5	-	14	2117	c.2090A>T	c.(2089-2091)tAt>tTt	p.Y697F	CWF19L2_ENST00000433523.1_Missense_Mutation_p.Y697F	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	697							catalytic activity (GO:0003824)	p.Y543F(1)		endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		TAAACATAAATAAACCTATAA	0.353																																					p.Y697F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2090T	11						.						52.0	50.0	51.0					11																	107219775		2201	4298	6499	106724985	SO:0001583	missense	143884	exon14			AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.2090A>T	11.37:g.107219775T>A	ENSP00000282251:p.Tyr697Phe	Somatic		Capture	SOLID	Phase_I	106724985	NM_152434	A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	ENST00000282251.5	37	CCDS8336.2	.	.	.	.	.	.	.	.	.	.	T	20.3	3.963165	0.74016	.	.	ENSG00000152404	ENST00000282251;ENST00000433523	T;T	0.51071	1.7;0.72	5.86	5.86	0.93980	Histidine triad motif (1);Histidine triad-like motif (1);Cwf19-like, C-terminal domain-1 (1);	0.000000	0.85682	D	0.000000	T	0.66147	0.2760	M	0.71920	2.185	0.80722	D	1	D	0.55605	0.972	D	0.64687	0.928	T	0.65643	-0.6118	10	0.40728	T	0.16	-18.8014	15.448	0.75248	0.0:0.0:0.0:1.0	.	697	Q2TBE0	C19L2_HUMAN	F	697	ENSP00000282251:Y697F;ENSP00000387533:Y697F	ENSP00000282251:Y697F	Y	-	2	0	CWF19L2	106724985	1.000000	0.71417	1.000000	0.80357	0.389000	0.30415	6.187000	0.72039	2.240000	0.73641	0.533000	0.62120	TAT		0.353	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434	
ARHGAP20	57569	hgsc.bcm.edu	37	11	110479770	110479770	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr11:110479770G>T	ENST00000260283.4	-	9	997	c.713C>A	c.(712-714)tCt>tAt	p.S238Y	ARHGAP20_ENST00000533353.1_Missense_Mutation_p.S212Y|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.S212Y|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.S215Y|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.S202Y|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.S202Y	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	238	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.S238Y(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		ATCTCTCTCAGAGCCCTTAGA	0.373																																					p.S238Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C713A	11						.						104.0	116.0	112.0					11																	110479770		2201	4298	6499	109984980	SO:0001583	missense	57569	exon9			AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.713C>A	11.37:g.110479770G>T	ENSP00000260283:p.Ser238Tyr	Somatic		Capture	SOLID	Phase_I	109984980	NM_020809	A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	ENST00000260283.4	37	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.640151	0.47153	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07;2.07	5.76	4.82	0.62117	Ras-association (2);	0.474819	0.25581	N	0.029691	T	0.39937	0.1097	M	0.61703	1.905	0.30645	N	0.756089	D;D	0.63046	0.992;0.99	D;P	0.62955	0.909;0.852	T	0.45629	-0.9248	10	0.72032	D	0.01	.	12.2303	0.54484	0.0:0.1296:0.7359:0.1345	.	238;215	Q9P2F6;Q9P2F6-3	RHG20_HUMAN;.	Y	238;212;215;202;212;202	ENSP00000260283:S238Y;ENSP00000349660:S212Y;ENSP00000432076:S215Y;ENSP00000436319:S202Y;ENSP00000436522:S212Y;ENSP00000431399:S202Y	ENSP00000260283:S238Y	S	-	2	0	ARHGAP20	109984980	1.000000	0.71417	0.994000	0.49952	0.473000	0.32948	3.988000	0.56951	1.510000	0.48803	0.655000	0.94253	TCT		0.373	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809	
DSCAML1	57453	hgsc.bcm.edu	37	11	117403108	117403108	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr11:117403108G>A	ENST00000321322.6	-	4	822	c.821C>T	c.(820-822)gCa>gTa	p.A274V	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	214	Ig-like C2-type 3.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.A274V(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGAGAGGCGTGCCCCATTGCT	0.637																																					p.A274V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C821T	11						.						90.0	72.0	78.0					11																	117403108		2201	4296	6497	116908318	SO:0001583	missense	57453	exon4				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.821C>T	11.37:g.117403108G>A	ENSP00000315465:p.Ala274Val	Somatic		Capture	SOLID	Phase_I	116908318	NM_020693	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.709442	0.89018	.	.	ENSG00000177103	ENST00000321322	T	0.78003	-1.14	4.96	4.96	0.65561	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.88782	0.6530	M	0.80183	2.485	0.58432	D	0.999997	D	0.76494	0.999	D	0.91635	0.999	D	0.89262	0.3598	9	0.56958	D	0.05	.	18.7783	0.91920	0.0:0.0:1.0:0.0	.	214	Q8TD84	DSCL1_HUMAN	V	274	ENSP00000315465:A274V	ENSP00000315465:A274V	A	-	2	0	DSCAML1	116908318	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.430000	0.80321	2.731000	0.93534	0.650000	0.86243	GCA		0.637	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693	
HSPA8	3312	hgsc.bcm.edu	37	11	122931912	122931912	+	Missense_Mutation	SNP	A	A	G	rs75739900		TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr11:122931912A>G	ENST00000532636.1	-	2	240	c.121T>C	c.(121-123)Tat>Cat	p.Y41H	HSPA8_ENST00000526110.1_Missense_Mutation_p.Y41H|HSPA8_ENST00000534319.1_5'Flank|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000453788.2_Missense_Mutation_p.Y41H|HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000227378.3_Missense_Mutation_p.Y41H|HSPA8_ENST00000533540.1_Missense_Mutation_p.Y41H|HSPA8_ENST00000534624.1_Missense_Mutation_p.Y41H|SNORD14C_ENST00000365382.1_RNA			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	41					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AAGGCGACATAGCTTGGAGTG	0.463																																					p.Y41H	Colon(21;486 594 5900 6733 14272)											.	.	0			c.T121C	11						.						99.0	82.0	87.0					11																	122931912		2202	4299	6501	122437122	SO:0001583	missense	3312	exon2			Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.121T>C	11.37:g.122931912A>G	ENSP00000437125:p.Tyr41His	Somatic		Capture	SOLID	Phase_I	122437122	NM_153201	Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.483750	0.84854	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000526110;ENST00000525463;ENST00000525624;ENST00000534567;ENST00000527387;ENST00000532182;ENST00000524590;ENST00000530391	T;T;T;T;T;T;T;T;T;T;T;T;T	0.03951	5.39;5.39;5.39;5.39;5.39;5.39;3.75;5.39;5.39;5.39;5.39;5.39;5.39	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.35335	0.0928	H	0.98218	4.175	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;1.0	D;D;D;D;D	0.91635	0.993;0.999;0.997;0.995;0.998	T	0.58831	-0.7567	10	0.87932	D	0	-22.5338	13.9807	0.64304	1.0:0.0:0.0:0.0	.	41;41;41;41;41	B4DTX2;Q53GZ6;E7ET08;P11142-2;P11142	.;.;.;.;HSP7C_HUMAN	H	41	ENSP00000437125:Y41H;ENSP00000437189:Y41H;ENSP00000432083:Y41H;ENSP00000404372:Y41H;ENSP00000227378:Y41H;ENSP00000433584:Y41H;ENSP00000436762:Y41H;ENSP00000435154:Y41H;ENSP00000431641:Y41H;ENSP00000436183:Y41H;ENSP00000434415:Y41H;ENSP00000434565:Y41H;ENSP00000434851:Y41H	ENSP00000227378:Y41H	Y	-	1	0	HSPA8	122437122	1.000000	0.71417	0.995000	0.50966	0.781000	0.44180	9.337000	0.96545	1.748000	0.51833	0.397000	0.26171	TAT		0.463	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1		
OR10S1	219873	hgsc.bcm.edu	37	11	123847864	123847864	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr11:123847864G>A	ENST00000531945.1	-	1	624	c.535C>T	c.(535-537)Cgc>Tgc	p.R179C		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	179						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R179C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TAGAGCAGGCGGAAGGTGAGG	0.552																																					p.R179C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C535T	11						.						103.0	89.0	93.0					11																	123847864		2202	4299	6501	123353074	SO:0001583	missense	219873	exon1			BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"""GPCR / Class A : Olfactory receptors"""	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.535C>T	11.37:g.123847864G>A	ENSP00000431914:p.Arg179Cys	Somatic		Capture	SOLID	Phase_I	123353074	NM_001004474	B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	ENST00000531945.1	37	CCDS31701.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.307406	0.23821	.	.	ENSG00000196248	ENST00000531945	T	0.00188	8.59	4.89	0.961	0.19638	GPCR, rhodopsin-like superfamily (1);	0.657762	0.12864	N	0.432873	T	0.00210	0.0006	L	0.60012	1.86	0.21386	N	0.999708	B	0.20261	0.043	B	0.14578	0.011	T	0.28427	-1.0044	10	0.56958	D	0.05	0.5192	9.555	0.39332	0.3687:0.0:0.6313:0.0	.	179	Q8NGN2	O10S1_HUMAN	C	179	ENSP00000431914:R179C	ENSP00000431914:R179C	R	-	1	0	OR10S1	123353074	0.000000	0.05858	0.266000	0.24541	0.844000	0.47949	0.602000	0.24134	0.042000	0.15717	-0.257000	0.10917	CGC		0.552	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	NM_001004474	
TMEM41B	440026	hgsc.bcm.edu	37	11	9305135	9305135	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr11:9305135C>T	ENST00000528080.1	-	7	1050	c.712G>A	c.(712-714)Gca>Aca	p.A238T	TMEM41B_ENST00000527813.1_Silent_p.S191S	NM_015012.3	NP_055827.1	Q5BJD5	TM41B_HUMAN	transmembrane protein 41B	238					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)		p.A238T(1)		kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		GAAGGAGGTGCGACACCTGAA	0.333																																					p.A238T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G712A	11						.						48.0	46.0	46.0					11																	9305135		2201	4296	6497	9261711	SO:0001583	missense	440026	exon7			D26067	CCDS31424.1, CCDS53600.1	11p15.3	2008-02-05			ENSG00000166471	ENSG00000166471			28948	protein-coding gene	gene with protein product						7584026, 7584028	Standard	NM_015012		Approved	KIAA0033	uc001mhn.2	Q5BJD5	OTTHUMG00000165719	ENST00000528080.1:c.712G>A	11.37:g.9305135C>T	ENSP00000433126:p.Ala238Thr	Somatic		Capture	SOLID	Phase_I	9261711	NM_015012	D3DQU9|E9PP29|Q15055|Q4G0P0	Missense_Mutation	SNP	ENST00000528080.1	37	CCDS31424.1	.	.	.	.	.	.	.	.	.	.	C	34	5.391767	0.95988	.	.	ENSG00000166471	ENST00000299596;ENST00000528080	T;T	0.58652	0.32;0.32	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.77994	0.4214	M	0.83312	2.635	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.74112	-0.3770	10	0.22706	T	0.39	-2.6072	19.7302	0.96179	0.0:1.0:0.0:0.0	.	238	Q5BJD5	TM41B_HUMAN	T	238	ENSP00000299596:A238T;ENSP00000433126:A238T	ENSP00000299596:A238T	A	-	1	0	TMEM41B	9261711	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	7.818000	0.86416	2.655000	0.90218	0.655000	0.94253	GCA		0.333	TMEM41B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385940.2		
DCDC1	341019	hgsc.bcm.edu	37	11	31327200	31327200	+	Missense_Mutation	SNP	G	G	A	rs140758606		TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr11:31327200G>A	ENST00000452803.1	-	6	917	c.716C>T	c.(715-717)aCg>aTg	p.T239M	DCDC1_ENST00000597505.1_Missense_Mutation_p.T239M|RP1-296L11.1_ENST00000528872.1_RNA	NM_181807.3	NP_861523.2	P59894	DCDC1_HUMAN	doublecortin domain containing 1	239	Doublecortin. {ECO:0000255|PROSITE- ProRule:PRU00072}.				intracellular signal transduction (GO:0035556)			p.T239M(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GGGCTCTCCCGTTGAAACATA	0.423													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15862	0.0		0.0	False		,,,				2504	0.0				p.T239M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C716T	11						.	G	MET/THR	1,4403	2.1+/-5.4	0,1,2201	122.0	122.0	122.0		716	1.9	0.7	11	dbSNP_134	122	2,8596	2.2+/-6.3	0,2,4297	yes	missense	DCDC1	NM_181807.3	81	0,3,6498	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging	239/355	31327200	3,12999	2202	4299	6501	31283776	SO:0001583	missense	341019	exon6			AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000452803.1:c.716C>T	11.37:g.31327200G>A	ENSP00000389792:p.Thr239Met	Somatic		Capture	SOLID	Phase_I	31283776	NM_181807	A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000452803.1	37	CCDS7872.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	14.79	2.640701	0.47153	2.27E-4	2.33E-4	ENSG00000188682	ENST00000452803	D	0.93488	-3.23	5.95	1.91	0.25777	Doublecortin domain (3);	0.318320	0.26609	N	0.023429	D	0.89273	0.6668	M	0.67953	2.075	0.23454	N	0.997643	P	0.50369	0.934	B	0.37650	0.255	T	0.82526	-0.0413	10	0.62326	D	0.03	-4.5744	7.1162	0.25418	0.1942:0.0:0.6839:0.122	.	239	P59894	DCDC1_HUMAN	M	239	ENSP00000389792:T239M	ENSP00000343496:T239M	T	-	2	0	DCDC1	31283776	0.913000	0.31002	0.662000	0.29724	0.959000	0.62525	0.914000	0.28624	0.420000	0.25954	0.650000	0.86243	ACG		0.423	DCDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316531.1	NM_181807	
OR8I2	120586	hgsc.bcm.edu	37	11	55861571	55861572	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	AC	AC	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr11:55861571_55861572delAC	ENST00000302124.2	+	1	819_820	c.788_789delAC	c.(787-789)aacfs	p.N263fs		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	263						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T264fs*42(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					CAACCTGATAACACATCATCGC	0.485																																					p.263_263del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.788_789del	11						.																																			55618148	SO:0001589	frameshift_variant	120586	exon1			AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.788_789delAC	11.37:g.55861573_55861574delAC	ENSP00000303864:p.Asn263fs	Somatic		Capture	SOLID	Phase_I	55618147	NM_001003750	B2RNN4|Q6IFC0|Q96RC5	Frame_Shift_Del	DEL	ENST00000302124.2	37	CCDS31517.1																																																																																				0.485	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750	
CWF19L2	143884	hgsc.bcm.edu	37	11	107299703	107299705	+	In_Frame_Del	DEL	ATG	ATG	-			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	ATG	ATG	ATG	-	ATG	ATG	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr11:107299703_107299705delATG	ENST00000282251.5	-	8	1280_1282	c.1253_1255delCAT	c.(1252-1257)tcatgg>tgg	p.S418del	CWF19L2_ENST00000433523.1_In_Frame_Del_p.S418del	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	418							catalytic activity (GO:0003824)	p.S264delS(1)		endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		GAGCGACTCCATGATGTTAATCT	0.419																																					p.418_419del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.1253_1255del	11						.																																			106804915	SO:0001651	inframe_deletion	143884	exon8			AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.1253_1255delCAT	11.37:g.107299706_107299708delATG	ENSP00000282251:p.Ser418del	Somatic		Capture	SOLID	Phase_I	106804913	NM_152434	A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	In_Frame_Del	DEL	ENST00000282251.5	37	CCDS8336.2																																																																																				0.419	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434	
VPS26B	112936	hgsc.bcm.edu	37	11	134109979	134109979	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr11:134109979A>G	ENST00000281187.5	+	3	953	c.475A>G	c.(475-477)Aac>Gac	p.N159D	VPS26B_ENST00000525095.2_Missense_Mutation_p.N159D|VPS26B_ENST00000530402.1_3'UTR	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B (S. pombe)	159					protein transport (GO:0015031)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)		p.N159D(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		CCCAGAGCTGAACTCTTCCAT	0.448																																					p.N159D	Colon(171;1263 1952 15904 45703 47982)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A475G	11						.						196.0	166.0	176.0					11																	134109979		2201	4297	6498	133615189	SO:0001583	missense	112936	exon3				CCDS8495.1	11q25	2008-02-05	2007-01-12		ENSG00000151502	ENSG00000151502			28119	protein-coding gene	gene with protein product		610027	"""vacuolar protein sorting 26 homolog B (yeast)"""			16190980	Standard	NM_052875		Approved	MGC10485, Pep8b	uc001qhe.3	Q4G0F5	OTTHUMG00000167175	ENST00000281187.5:c.475A>G	11.37:g.134109979A>G	ENSP00000281187:p.Asn159Asp	Somatic		Capture	SOLID	Phase_I	133615189	NM_052875	Q96A55	Missense_Mutation	SNP	ENST00000281187.5	37	CCDS8495.1	.	.	.	.	.	.	.	.	.	.	A	18.66	3.672133	0.67928	.	.	ENSG00000151502	ENST00000281187;ENST00000525095	T	0.06528	3.29	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.13157	0.0319	M	0.79614	2.46	0.80722	D	1	B	0.16166	0.016	B	0.26517	0.07	T	0.01795	-1.1272	10	0.39692	T	0.17	-0.1835	15.5312	0.75964	1.0:0.0:0.0:0.0	.	159	Q4G0F5	VP26B_HUMAN	D	159;158	ENSP00000281187:N159D	ENSP00000281187:N159D	N	+	1	0	VPS26B	133615189	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.339000	0.96797	2.078000	0.62432	0.528000	0.53228	AAC		0.448	VPS26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393591.1	NM_052875	
BVES	11149	hgsc.bcm.edu	37	6	105572452	105572452	+	Silent	SNP	T	T	C			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr6:105572452T>C	ENST00000314641.5	-	5	834	c.618A>G	c.(616-618)tcA>tcG	p.S206S	BVES_ENST00000336775.5_Silent_p.S206S|BVES_ENST00000446408.2_Silent_p.S206S	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	206					epithelial cell-cell adhesion (GO:0090136)|hematopoietic progenitor cell differentiation (GO:0002244)|muscle organ development (GO:0007517)|positive regulation of locomotion (GO:0040017)|positive regulation of receptor recycling (GO:0001921)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|regulation of Rac GTPase activity (GO:0032314)|sinoatrial node cell development (GO:0060931)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cAMP binding (GO:0030552)|structural molecule activity (GO:0005198)	p.S206S(1)		NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				GCATCTGAGTTGATCTAAATT	0.338																																					p.S206S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A618G	6						.						91.0	98.0	96.0					6																	105572452		2203	4298	6501	105679145	SO:0001819	synonymous_variant	11149	exon5			AF124512	CCDS5051.1	6q21	2008-11-25			ENSG00000112276	ENSG00000112276			1152	protein-coding gene	gene with protein product	"""popeye domain containing 1"""	604577				10441744, 10882522	Standard	NM_147147		Approved	HBVES, POP1, POPDC1	uc003pqx.3	Q8NE79	OTTHUMG00000015291	ENST00000314641.5:c.618A>G	6.37:g.105572452T>C		Somatic		Capture	SOLID	Phase_I	105679145	NM_007073	A8K1R4|E1P5D8|Q5T550|Q5T551|Q8IWC6|Q9HBV0|Q9UNG6	Silent	SNP	ENST00000314641.5	37	CCDS5051.1																																																																																				0.338	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406075.1	NM_147147	
PKIB	5570	hgsc.bcm.edu	37	6	123039059	123039059	+	Silent	SNP	C	C	T	rs148112687		TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr6:123039059C>T	ENST00000368448.1	+	5	747	c.120C>T	c.(118-120)gaC>gaT	p.D40D	PKIB_ENST00000368446.1_Silent_p.D49D|PKIB_ENST00000368452.2_Silent_p.D40D|PKIB_ENST00000258014.3_Silent_p.D47D|PKIB_ENST00000354275.2_Silent_p.D40D|PKIB_ENST00000392490.1_Silent_p.D40D|PKIB_ENST00000392491.2_Silent_p.D40D			Q9C010	IPKB_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor beta	40							cAMP-dependent protein kinase inhibitor activity (GO:0004862)	p.D40D(1)		large_intestine(3)|lung(1)	4				GBM - Glioblastoma multiforme(226;0.164)		CTGCCACAGACGGAACCTCAG	0.502																																					p.D40D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C120T	6						.	C	,,	0,4406		0,0,2203	110.0	103.0	105.0		120,120,120	-10.5	0.0	6	dbSNP_134	105	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	PKIB	NM_032471.4,NM_181794.1,NM_181795.1	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	40/79,40/79,40/79	123039059	1,13005	2203	4300	6503	123080758	SO:0001819	synonymous_variant	5570	exon3				CCDS5126.1, CCDS59033.1	6q21-q22.1	2008-05-27			ENSG00000135549	ENSG00000135549			9018	protein-coding gene	gene with protein product		606914		PRKACN2		10880337	Standard	NM_181795		Approved		uc003pzc.4	Q9C010	OTTHUMG00000015488	ENST00000368448.1:c.120C>T	6.37:g.123039059C>T		Somatic		Capture	SOLID	Phase_I	123080758	NM_032471	B2RCK2|Q567T9|Q5T0Z7	Silent	SNP	ENST00000368448.1	37	CCDS5126.1																																																																																				0.502	PKIB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042035.1		
C6orf58	352999	hgsc.bcm.edu	37	6	127901547	127901547	+	Missense_Mutation	SNP	C	C	T	rs537631071	byFrequency	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr6:127901547C>T	ENST00000329722.7	+	3	538	c.526C>T	c.(526-528)Cgt>Tgt	p.R176C		NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	176						extracellular vesicular exosome (GO:0070062)		p.R176C(1)		kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		TTCTAGCTGTCGTTCATCCTT	0.413													C|||	2	0.000399361	0.0	0.0	5008	,	,		17365	0.002		0.0	False		,,,				2504	0.0				p.R176C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C526T	6						.						175.0	163.0	167.0					6																	127901547		2203	4300	6503	127943240	SO:0001583	missense	352999	exon3			BC062712	CCDS34533.1	6q22.33	2011-12-13			ENSG00000184530	ENSG00000184530			20960	protein-coding gene	gene with protein product							Standard	NM_001010905		Approved		uc003qbh.4	Q6P5S2	OTTHUMG00000015530	ENST00000329722.7:c.526C>T	6.37:g.127901547C>T	ENSP00000328069:p.Arg176Cys	Somatic		Capture	SOLID	Phase_I	127943240	NM_001010905	B4E1I0|Q5VUP2	Missense_Mutation	SNP	ENST00000329722.7	37	CCDS34533.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.600401	0.46423	.	.	ENSG00000184530	ENST00000329722	T	0.45668	0.89	4.7	2.88	0.33553	.	1.577900	0.02992	N	0.146968	T	0.35008	0.0917	L	0.46157	1.445	0.20764	N	0.999853	D	0.76494	0.999	D	0.63192	0.912	T	0.06661	-1.0814	10	0.41790	T	0.15	-2.9079	3.5092	0.07701	0.1748:0.563:0.1694:0.0928	.	176	Q6P5S2	CF058_HUMAN	C	176	ENSP00000328069:R176C	ENSP00000328069:R176C	R	+	1	0	C6orf58	127943240	0.018000	0.18449	0.470000	0.27216	0.685000	0.39939	0.382000	0.20635	0.686000	0.31488	-0.181000	0.13052	CGT		0.413	C6orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042152.1	NM_001010905	
PTPRK	5796	hgsc.bcm.edu	37	6	128561246	128561246	+	Silent	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr6:128561246C>T	ENST00000368215.3	-	5	626	c.627G>A	c.(625-627)ggG>ggA	p.G209G	PTPRK_ENST00000368210.3_Silent_p.G209G|PTPRK_ENST00000368213.5_Silent_p.G209G|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368207.3_Silent_p.G209G|PTPRK_ENST00000368226.4_Silent_p.G209G|PTPRK_ENST00000368227.3_Silent_p.G209G|PTPRK_ENST00000532331.1_Silent_p.G209G			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	209	Ig-like C2-type.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.G209G(1)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TAGCGTTTTGCCCTGCATTCA	0.423																																					p.G209G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G627A	6						.						141.0	115.0	124.0					6																	128561246		2203	4300	6503	128602939	SO:0001819	synonymous_variant	5796	exon5			L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.627G>A	6.37:g.128561246C>T		Somatic		Capture	SOLID	Phase_I	128602939	NM_002844	B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Silent	SNP	ENST00000368215.3	37																																																																																					0.423	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1		
MAP7	9053	hgsc.bcm.edu	37	6	136693765	136693765	+	Splice_Site	SNP	T	T	C			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr6:136693765T>C	ENST00000354570.3	-	8	1162		c.e8-2		MAP7_ENST00000438100.2_Splice_Site|MAP7_ENST00000432797.2_Splice_Site|MAP7_ENST00000454590.1_Splice_Site|MAP7_ENST00000544465.1_Splice_Site	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7						cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)	p.?(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TGCAAGATGCTGAACGAGGAC	0.478																																					p.S280S												.	.	1	Unknown(1)	large_intestine(1)	c.A840G	6						.						169.0	148.0	155.0					6																	136693765		2203	4300	6503	136735458	SO:0001630	splice_region_variant	9053	exon8			X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.752-2A>G	6.37:g.136693765T>C		Somatic		Capture	SOLID	Phase_I	136735458	NM_001198609	B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Splice_Site	SNP	ENST00000354570.3	37	CCDS5178.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.122277	0.77436	.	.	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000438100;ENST00000432797;ENST00000345567	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1607	0.81704	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MAP7	136735458	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.065000	0.64344	2.226000	0.72624	0.482000	0.46254	.		0.478	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	NM_003980	Intron
SYNE1	23345	hgsc.bcm.edu	37	6	152631610	152631610	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr6:152631610G>A	ENST00000367255.5	-	89	17541	c.16940C>T	c.(16939-16941)gCc>gTc	p.A5647V	SYNE1_ENST00000448038.1_Missense_Mutation_p.A5576V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A5259V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A5576V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A5647V|SYNE1_ENST00000356820.4_Missense_Mutation_p.A171V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5647					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.A5647V(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTGCTCCAAGGCAGCTTGTAA	0.433										HNSCC(10;0.0054)																											p.A171V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C512T	6						.						104.0	103.0	103.0					6																	152631610		2203	4300	6503	152673303	SO:0001583	missense	23345	exon4			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.16940C>T	6.37:g.152631610G>A	ENSP00000356224:p.Ala5647Val	Somatic		Capture	SOLID	Phase_I	152673303	NM_015293	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327610	0.81690	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.50548	1.38;1.38;1.38;1.38;0.74;1.38	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000009	T	0.64136	0.2571	M	0.72118	2.19	0.53688	D	0.99997	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.74348	0.961;0.961;0.983	T	0.57963	-0.7720	10	0.39692	T	0.17	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	5647;5647;5576	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	V	5647;5576;5647;5576;5259;171	ENSP00000356224:A5647V;ENSP00000396024:A5576V;ENSP00000265368:A5647V;ENSP00000390975:A5576V;ENSP00000341887:A5259V;ENSP00000349276:A171V	ENSP00000265368:A5647V	A	-	2	0	SYNE1	152673303	1.000000	0.71417	0.811000	0.32455	0.720000	0.41350	7.876000	0.87215	2.882000	0.98803	0.655000	0.94253	GCC		0.433	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
IGF2R	3482	hgsc.bcm.edu	37	6	160455519	160455519	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Visver			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr6:160455519T>C	ENST00000356956.1	+	10	1428	c.1280T>C	c.(1279-1281)aTg>aCg	p.M427T		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	427					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)	p.M427T(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	TTTCAGCGGATGAGCGTCATA	0.453																																					p.M427T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1280C	6						.						137.0	123.0	128.0					6																	160455519		2203	4300	6503	160375509	SO:0001583	missense	3482	exon10			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.1280T>C	6.37:g.160455519T>C	ENSP00000349437:p.Met427Thr	Somatic		Capture	SOLID	Phase_I	160375509	NM_000876	Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	T	17.67	3.447807	0.63178	.	.	ENSG00000197081	ENST00000356956	T	0.03607	3.87	5.5	5.5	0.81552	Mannose-6-phosphate receptor, binding (1);	0.000000	0.85682	D	0.000000	T	0.05547	0.0146	L	0.54863	1.705	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.21280	-1.0250	10	0.02654	T	1	-18.7454	15.6029	0.76639	0.0:0.0:0.0:1.0	.	427	P11717	MPRI_HUMAN	T	427	ENSP00000349437:M427T	ENSP00000349437:M427T	M	+	2	0	IGF2R	160375509	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	7.671000	0.83941	2.090000	0.63153	0.533000	0.62120	ATG		0.453	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876	
PLG	5340	hgsc.bcm.edu	37	6	161137733	161137733	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr6:161137733G>A	ENST00000308192.9	+	7	788	c.725G>A	c.(724-726)cGg>cAg	p.R242Q		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	242	Kringle 2. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.R242Q(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AGGGAGCTGCGGCCTTGGTGT	0.478																																					p.R242Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G725A	6						.						67.0	64.0	65.0					6																	161137733		2203	4300	6503	161057723	SO:0001583	missense	5340	exon7			M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.725G>A	6.37:g.161137733G>A	ENSP00000308938:p.Arg242Gln	Somatic		Capture	SOLID	Phase_I	161057723	NM_000301	Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.962362	0.53400	.	.	ENSG00000122194	ENST00000308192	T	0.63417	-0.04	5.26	4.37	0.52481	Kringle (4);Kringle-like fold (1);Kringle, conserved site (1);	0.221335	0.22588	U	0.058135	T	0.43010	0.1228	L	0.49455	1.56	0.33742	D	0.619561	P	0.40266	0.71	B	0.39027	0.288	T	0.44952	-0.9294	10	0.30854	T	0.27	.	13.7555	0.62935	0.0808:0.0:0.9192:0.0	.	242	P00747	PLMN_HUMAN	Q	242	ENSP00000308938:R242Q	ENSP00000308938:R242Q	R	+	2	0	PLG	161057723	0.931000	0.31567	0.007000	0.13788	0.522000	0.34438	3.634000	0.54302	2.616000	0.88540	0.563000	0.77884	CGG		0.478	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301	
ZSCAN16	80345	hgsc.bcm.edu	37	6	28097635	28097635	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr6:28097635A>C	ENST00000340487.4	+	4	1103	c.954A>C	c.(952-954)aaA>aaC	p.K318N	ZSCAN16-AS1_ENST00000602810.1_RNA|ZSCAN16-AS1_ENST00000600652.1_RNA	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	318					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K318N(1)		large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						CAGGTGAAAAACCCTATGAAT	0.403																																					p.K318N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A954C	6						.						63.0	62.0	63.0					6																	28097635		2203	4300	6503	28205614	SO:0001583	missense	80345	exon4			AK025844	CCDS4644.1	6p21.33	2013-01-08	2007-02-20	2007-02-20	ENSG00000196812	ENSG00000196812		"""-"", ""Zinc fingers, C2H2-type"""	20813	protein-coding gene	gene with protein product			"""zinc finger protein 392"", ""zinc finger protein 435"""	ZNF392, ZNF435			Standard	NM_025231		Approved	FLJ22191, dJ265C24.3	uc003nkm.3	Q9H4T2	OTTHUMG00000014509	ENST00000340487.4:c.954A>C	6.37:g.28097635A>C	ENSP00000366527:p.Lys318Asn	Somatic		Capture	SOLID	Phase_I	28205614	NM_025231	Q9H6K2	Missense_Mutation	SNP	ENST00000340487.4	37	CCDS4644.1	.	.	.	.	.	.	.	.	.	.	A	19.70	3.876987	0.72180	.	.	ENSG00000196812	ENST00000340487	T	0.26067	1.76	5.08	-0.218	0.13142	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36932	N	0.002324	T	0.28167	0.0695	M	0.82433	2.59	0.29127	N	0.879891	D	0.76494	0.999	P	0.62740	0.906	T	0.04991	-1.0913	10	0.87932	D	0	.	4.9365	0.13943	0.493:0.2728:0.2341:0.0	.	318	Q9H4T2	ZSC16_HUMAN	N	318	ENSP00000366527:K318N	ENSP00000366527:K318N	K	+	3	2	ZSCAN16	28205614	0.021000	0.18746	0.882000	0.34594	0.999000	0.98932	-0.434000	0.06939	-0.003000	0.14444	0.533000	0.62120	AAA		0.403	ZSCAN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040177.1	NM_025231	
ZBED9	114821	hgsc.bcm.edu	37	6	28543516	28543516	+	Silent	SNP	T	T	C			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr6:28543516T>C	ENST00000452236.2	-	3	1583	c.966A>G	c.(964-966)ggA>ggG	p.G322G	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1												p.G322G(1)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TGCGAGTACGTCCACCATGTC	0.388																																					p.G322G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A966G	6						.						267.0	235.0	246.0					6																	28543516		2203	4300	6503	28651495	SO:0001819	synonymous_variant	114821	exon3																														ENST00000452236.2:c.966A>G	6.37:g.28543516T>C		Somatic		Capture	SOLID	Phase_I	28651495	NM_052923		Silent	SNP	ENST00000452236.2	37	CCDS34355.1																																																																																				0.388	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3		
IBTK	25998	hgsc.bcm.edu	37	6	82933863	82933863	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr6:82933863C>T	ENST00000306270.7	-	7	1414	c.865G>A	c.(865-867)Gtt>Att	p.V289I	IBTK_ENST00000510291.1_Missense_Mutation_p.V289I|IBTK_ENST00000503631.1_Missense_Mutation_p.V289I	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	289					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)	p.V289I(1)		central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		CCTGCTGCAACGCCAATGATT	0.348																																					p.V289I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G865A	6						.						136.0	127.0	130.0					6																	82933863		2201	4300	6501	82990582	SO:0001583	missense	25998	exon7			AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	17853	protein-coding gene	gene with protein product		606457	"""Bruton agammaglobulinemia tyrosine kinase inhibitor"""	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.865G>A	6.37:g.82933863C>T	ENSP00000305721:p.Val289Ile	Somatic		Capture	SOLID	Phase_I	82990582	NM_015525	Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Missense_Mutation	SNP	ENST00000306270.7	37	CCDS34490.1	.	.	.	.	.	.	.	.	.	.	c	18.91	3.723757	0.68959	.	.	ENSG00000005700	ENST00000306270;ENST00000503631;ENST00000510291	T;T;T	0.79141	-1.24;-1.24;-1.24	5.2	4.33	0.51752	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.122336	0.53938	N	0.000044	T	0.73513	0.3596	L	0.31157	0.91	0.54753	D	0.999983	D;D;D;D	0.76494	0.999;0.998;0.998;0.999	D;P;P;P	0.81914	0.995;0.906;0.891;0.906	T	0.73257	-0.4040	10	0.28530	T	0.3	-9.8329	13.9668	0.64213	0.0:0.9262:0.0:0.0738	.	289;289;289;289	E9PDR5;E7EPI0;Q9P2D0-2;Q9P2D0	.;.;.;IBTK_HUMAN	I	289	ENSP00000305721:V289I;ENSP00000422762:V289I;ENSP00000426405:V289I	ENSP00000305721:V289I	V	-	1	0	IBTK	82990582	1.000000	0.71417	0.957000	0.39632	0.880000	0.50808	5.755000	0.68750	1.199000	0.43173	-0.642000	0.03964	GTT		0.348	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2	NM_015525	
RNGTT	8732	hgsc.bcm.edu	37	6	89554125	89554125	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr6:89554125G>T	ENST00000369485.4	-	11	1406	c.1220C>A	c.(1219-1221)cCa>cAa	p.P407Q	RNGTT_ENST00000538899.1_Missense_Mutation_p.P347Q|RNGTT_ENST00000265607.6_Missense_Mutation_p.P407Q|RNGTT_ENST00000369475.3_Missense_Mutation_p.P407Q	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	407	GTase.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA processing (GO:0006396)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|mRNA guanylyltransferase activity (GO:0004484)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA guanylyltransferase activity (GO:0008192)|triphosphatase activity (GO:0050355)	p.P407Q(1)		endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		GACGCTAAATGGTTCCTGTGT	0.328																																					p.P407Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1220A	6						.						152.0	152.0	152.0					6																	89554125		2203	4300	6503	89610844	SO:0001583	missense	8732	exon11			AF025654	CCDS5017.1	6q16	2011-06-09			ENSG00000111880	ENSG00000111880	2.7.7.50	"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	10073	protein-coding gene	gene with protein product		603512				9828141, 9512541	Standard	NM_001286428		Approved	HCE, HCE1, hCAP	uc003pmr.2	O60942	OTTHUMG00000015190	ENST00000369485.4:c.1220C>A	6.37:g.89554125G>T	ENSP00000358497:p.Pro407Gln	Somatic		Capture	SOLID	Phase_I	89610844	NM_003800	E1P513|E1P514|O43483|O60257|O60351|Q5TCW8|Q8WUM8	Missense_Mutation	SNP	ENST00000369485.4	37	CCDS5017.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.796225	0.90453	.	.	ENSG00000111880	ENST00000369485;ENST00000265607;ENST00000538899;ENST00000536746;ENST00000369475	D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96	5.7	5.7	0.88788	mRNA capping enzyme (1);	0.045536	0.85682	D	0.000000	D	0.94165	0.8128	M	0.92555	3.32	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.995;0.999	D	0.94684	0.7868	10	0.72032	D	0.01	-4.2282	19.8201	0.96590	0.0:0.0:1.0:0.0	.	347;407;407;407	B4DSJ8;Q5TCW7;O60942-2;O60942	.;.;.;MCE1_HUMAN	Q	407;407;347;378;407	ENSP00000358497:P407Q;ENSP00000265607:P407Q;ENSP00000442609:P347Q;ENSP00000358487:P407Q	ENSP00000265607:P407Q	P	-	2	0	RNGTT	89610844	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.760000	0.98935	2.693000	0.91896	0.563000	0.77884	CCA		0.328	RNGTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041469.1		
FAM120B	84498	hgsc.bcm.edu	37	6	170626692	170626692	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr6:170626692C>T	ENST00000476287.1	+	2	322	c.214C>T	c.(214-216)Cga>Tga	p.R72*	FAM120B_ENST00000540480.1_Nonsense_Mutation_p.R84*|FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000537664.1_Nonsense_Mutation_p.R95*	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	72					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.R72*(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		TTCTGCTTTGCGAGATTTTGT	0.443																																					p.R72X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C214T	6						.						133.0	129.0	131.0					6																	170626692		2203	4300	6503	170468617	SO:0001587	stop_gained	84498	exon2			AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"""PPARgamma constitutive coactivator 1"", ""constitutive coactivator of PPAR-gamma"""	612266	"""KIAA1838"""	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.214C>T	6.37:g.170626692C>T	ENSP00000417970:p.Arg72*	Somatic		Capture	SOLID	Phase_I	170468617	NM_032448	B4DL34|Q86V68|Q96JI9	Nonsense_Mutation	SNP	ENST00000476287.1	37	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	C	35	5.535989	0.96460	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	.	.	.	5.98	1.61	0.23674	.	0.123569	0.53938	D	0.000047	.	.	.	.	.	.	0.24531	N	0.994114	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-12.0974	10.0913	0.42449	0.2921:0.5216:0.1863:0.0	.	.	.	.	X	84;95;72	.	ENSP00000436640:R72X	R	+	1	2	FAM120B	170468617	0.979000	0.34478	0.687000	0.30102	0.866000	0.49608	0.165000	0.16564	0.795000	0.33922	0.655000	0.94253	CGA		0.443	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448	
PLXDC1	57125	hgsc.bcm.edu	37	17	37262157	37262157	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr17:37262157G>A	ENST00000315392.4	-	7	972	c.761C>T	c.(760-762)aCc>aTc	p.T254I	PLXDC1_ENST00000539608.1_Missense_Mutation_p.T181I|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000394316.2_Missense_Mutation_p.T254I|PLXDC1_ENST00000444911.2_Missense_Mutation_p.T214I	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1	254					angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)	p.T254I(1)		kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						CGATAGGCCGGTTTTGACAGG	0.597																																					p.T254I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C761T	17						.						130.0	129.0	129.0					17																	37262157		2203	4300	6503	34515683	SO:0001583	missense	57125	exon7			AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"""tumor endothelial marker 7 precursor"""	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.761C>T	17.37:g.37262157G>A	ENSP00000323927:p.Thr254Ile	Somatic		Capture	SOLID	Phase_I	34515683	NM_020405	B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	Missense_Mutation	SNP	ENST00000315392.4	37	CCDS11333.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.33|10.33	1.319246|1.319246	0.23994|0.23994	.|.	.|.	ENSG00000161381|ENSG00000161381	ENST00000444435|ENST00000315392;ENST00000394318;ENST00000539608;ENST00000444911;ENST00000394316;ENST00000441877	.|T;T;T;T;T	.|0.76578	.|-1.03;-1.03;-1.03;-1.03;-1.03	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	.|0.269484	.|0.36303	.|N	.|0.002674	T|T	0.52693|0.52693	0.1750|0.1750	N|N	0.01576|0.01576	-0.805|-0.805	0.24935|0.24935	N|N	0.991891|0.991891	.|B	.|0.23735	.|0.09	.|B	.|0.16722	.|0.016	T|T	0.41645|0.41645	-0.9497|-0.9497	5|10	.|0.25751	.|T	.|0.34	-7.6698|-7.6698	15.5258|15.5258	0.75905|0.75905	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|254	.|Q8IUK5	.|PXDC1_HUMAN	S|I	38|254;181;181;214;254;181	.|ENSP00000323927:T254I;ENSP00000441881:T181I;ENSP00000409687:T214I;ENSP00000377851:T254I;ENSP00000393227:T181I	.|ENSP00000323927:T254I	P|T	-|-	1|2	0|0	PLXDC1|PLXDC1	34515683|34515683	1.000000|1.000000	0.71417|0.71417	0.951000|0.951000	0.38953|0.38953	0.648000|0.648000	0.38561|0.38561	3.835000|3.835000	0.55805|0.55805	2.440000|2.440000	0.82611|0.82611	0.561000|0.561000	0.74099|0.74099	CCG|ACC		0.597	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256892.2	NM_020405	
KRT20	54474	hgsc.bcm.edu	37	17	39041267	39041267	+	Silent	SNP	G	G	A	rs142087896	byFrequency	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr17:39041267G>A	ENST00000167588.3	-	1	212	c.171C>T	c.(169-171)agC>agT	p.S57S		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	57	Head.				apoptotic process (GO:0006915)|cellular response to stress (GO:0033554)|intermediate filament organization (GO:0045109)|regulation of protein secretion (GO:0050708)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)	p.S57S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				CTGTGAGATCGCTCCCATAGT	0.592																																					p.S57S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C171T	17						.						82.0	76.0	78.0					17																	39041267		2203	4300	6503	36294793	SO:0001819	synonymous_variant	54474	exon1			BC031559	CCDS11379.1	17q21.2	2013-01-16			ENSG00000171431	ENSG00000171431		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	20412	protein-coding gene	gene with protein product		608218				8359595, 12515621, 16831889	Standard	NM_019010		Approved	CK20, K20, MGC35423	uc002hvl.3	P35900	OTTHUMG00000133366	ENST00000167588.3:c.171C>T	17.37:g.39041267G>A		Somatic		Capture	SOLID	Phase_I	36294793	NM_019010	B2R6W7	Silent	SNP	ENST00000167588.3	37	CCDS11379.1																																																																																				0.592	KRT20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257202.2		
ACLY	47	hgsc.bcm.edu	37	17	40068759	40068759	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr17:40068759G>A	ENST00000352035.2	-	3	326	c.196C>T	c.(196-198)Cgt>Tgt	p.R66C	ACLY_ENST00000353196.1_Missense_Mutation_p.R66C|ACLY_ENST00000393896.2_Missense_Mutation_p.R66C|ACLY_ENST00000537919.1_Missense_Mutation_p.R66C|ACLY_ENST00000590151.1_Missense_Mutation_p.R66C	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	66	ATP-grasp.				ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)	p.R66C(1)	NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				AGTTTTCCACGACGTTTGATC	0.502																																					p.R66C	Colon(64;807 1396 15971 30971)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C196T	17						.						117.0	92.0	101.0					17																	40068759		2203	4300	6503	37322285	SO:0001583	missense	47	exon3			X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.196C>T	17.37:g.40068759G>A	ENSP00000253792:p.Arg66Cys	Somatic		Capture	SOLID	Phase_I	37322285	NM_198830	B4DIM0|B4E3P0|Q13037|Q9BRL0	Missense_Mutation	SNP	ENST00000352035.2	37	CCDS11412.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.574654	0.86542	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	T;T;T;T	0.80738	-1.41;-1.41;-1.16;-1.41	5.76	5.76	0.90799	ATP-grasp fold, succinyl-CoA synthetase-type (1);	0.000000	0.85682	D	0.000000	D	0.92126	0.7504	M	0.90814	3.15	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.982;0.999;1.0;1.0;0.999	D	0.92979	0.6404	10	0.87932	D	0	.	19.9504	0.97197	0.0:0.0:1.0:0.0	.	66;120;120;66;66	B4E3P0;B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;.;ACLY_HUMAN	C	66;120;66;66;66	ENSP00000253792:R66C;ENSP00000345398:R66C;ENSP00000445349:R66C;ENSP00000377474:R66C	ENSP00000253792:R66C	R	-	1	0	ACLY	37322285	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.192000	0.72069	2.720000	0.93068	0.591000	0.81541	CGT		0.502	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096	
EFTUD2	9343	hgsc.bcm.edu	37	17	42956952	42956952	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr17:42956952A>G	ENST00000426333.2	-	9	971	c.674T>C	c.(673-675)gTg>gCg	p.V225A	EFTUD2_ENST00000591382.1_Missense_Mutation_p.V225A|EFTUD2_ENST00000592576.1_Missense_Mutation_p.V215A|EFTUD2_ENST00000402521.3_Missense_Mutation_p.V190A	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	225	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.V225A(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				GAAAAGGACCACTCCATCTGA	0.488																																					p.V225A	Ovarian(10;65 485 10258 29980 30707)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T674C	17						.						111.0	97.0	102.0					17																	42956952		2203	4300	6503	40312478	SO:0001583	missense	9343	exon9			D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 116 kD"""	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.674T>C	17.37:g.42956952A>G	ENSP00000392094:p.Val225Ala	Somatic		Capture	SOLID	Phase_I	40312478	NM_004247	B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	ENST00000426333.2	37	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	A	13.68	2.310927	0.40895	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.68181	-0.31;-0.31	6.02	6.02	0.97574	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (2);	0.113687	0.64402	D	0.000012	T	0.47303	0.1438	N	0.13299	0.325	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.003	T	0.47886	-0.9082	10	0.02654	T	1	-2.7388	16.542	0.84395	1.0:0.0:0.0:0.0	.	215;225	B4DMC0;Q15029	.;U5S1_HUMAN	A	225;215;190	ENSP00000392094:V225A;ENSP00000385873:V190A	ENSP00000262414:V215A	V	-	2	0	EFTUD2	40312478	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.339000	0.96797	2.304000	0.77564	0.528000	0.53228	GTG		0.488	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247	
CLTC	1213	hgsc.bcm.edu	37	17	57737881	57737881	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr17:57737881A>G	ENST00000269122.3	+	7	1373	c.1099A>G	c.(1099-1101)Aaa>Gaa	p.K367E	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.K367E	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	367	Globular terminal domain.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)	p.K367E(1)	CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CTTTGCCCGGAAATTTAATGC	0.418			T	"""ALK, TFE3"""	"""ALCL, renal """																																p.K367E			Dom	yes		17	17q11-qter	1213	"""clathrin, heavy polypeptide (Hc)"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1099G	17						.						170.0	183.0	179.0					17																	57737881		2203	4300	6503	55092663	SO:0001583	missense	1213	exon7			X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.1099A>G	17.37:g.57737881A>G	ENSP00000269122:p.Lys367Glu	Somatic		Capture	SOLID	Phase_I	55092663	NM_004859	D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	A	16.81	3.226176	0.58668	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.43294	0.95;0.95	6.08	6.08	0.98989	Armadillo-type fold (1);	0.042064	0.85682	D	0.000000	T	0.59555	0.2202	L	0.51914	1.62	0.80722	D	1	D;B	0.56968	0.978;0.001	D;B	0.77557	0.99;0.017	T	0.55108	-0.8192	10	0.36615	T	0.2	.	16.6512	0.85203	1.0:0.0:0.0:0.0	.	367;367	Q00610;Q00610-2	CLH1_HUMAN;.	E	367	ENSP00000269122:K367E;ENSP00000376763:K367E	ENSP00000269122:K367E	K	+	1	0	CLTC	55092663	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	9.339000	0.96797	2.333000	0.79357	0.482000	0.46254	AAA		0.418	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859	
USP32	84669	hgsc.bcm.edu	37	17	58348792	58348792	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr17:58348792C>T	ENST00000300896.4	-	6	816	c.622G>A	c.(622-624)Gct>Act	p.A208T	USP32_ENST00000393003.3_Missense_Mutation_p.A208T	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	208					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.A208T(1)		NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CGGGATTGAGCCTTCAATAAC	0.398																																					p.A208T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G622A	17						.						147.0	128.0	134.0					17																	58348792		2203	4300	6503	55703574	SO:0001583	missense	84669	exon6			AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.622G>A	17.37:g.58348792C>T	ENSP00000300896:p.Ala208Thr	Somatic		Capture	SOLID	Phase_I	55703574	NM_032582	Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.603406	0.66445	.	.	ENSG00000170832	ENST00000300896;ENST00000393003	T;T	0.66995	-0.24;-0.24	5.35	5.35	0.76521	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.62221	0.2410	N	0.02011	-0.69	0.80722	D	1	D;P	0.69078	0.997;0.915	D;B	0.73380	0.98;0.297	T	0.73610	-0.3928	10	0.38643	T	0.18	.	19.061	0.93093	0.0:1.0:0.0:0.0	.	208;208	Q7Z5T3;Q8NFA0	.;UBP32_HUMAN	T	208	ENSP00000300896:A208T;ENSP00000376727:A208T	ENSP00000300896:A208T	A	-	1	0	USP32	55703574	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.763000	0.85283	2.490000	0.84030	0.563000	0.77884	GCT		0.398	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582	
TMEM104	54868	hgsc.bcm.edu	37	17	72773492	72773492	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr17:72773492C>T	ENST00000335464.5	+	2	185	c.23C>T	c.(22-24)aCc>aTc	p.T8I	NAT9_ENST00000580632.1_5'Flank|NAT9_ENST00000582524.1_5'Flank|NAT9_ENST00000583476.1_5'Flank|NAT9_ENST00000581136.1_5'Flank|NAT9_ENST00000582870.1_5'Flank|NAT9_ENST00000357814.3_5'Flank|NAT9_ENST00000578822.1_5'Flank|TMEM104_ENST00000417024.2_Missense_Mutation_p.T8I|TMEM104_ENST00000582773.1_Missense_Mutation_p.T8I|NAT9_ENST00000583757.1_5'Flank|TMEM104_ENST00000582330.1_Missense_Mutation_p.T8I|NAT9_ENST00000580301.1_5'Flank|NAT9_ENST00000580216.1_5'Flank	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	8						integral component of membrane (GO:0016021)		p.T8I(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					ATTACAGAGACCGGGGAACTC	0.498																																					p.T8I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C23T	17						.						84.0	80.0	82.0					17																	72773492		2203	4300	6503	70285087	SO:0001583	missense	54868	exon2			AK074029	CCDS32723.1	17q25.1	2005-12-19				ENSG00000109066			25984	protein-coding gene	gene with protein product							Standard	NM_017728		Approved	FLJ20255, FLJ00021	uc002jls.4	Q8NE00		ENST00000335464.5:c.23C>T	17.37:g.72773492C>T	ENSP00000334849:p.Thr8Ile	Somatic		Capture	SOLID	Phase_I	70285087	NM_017728	Q8TEU1|Q9NT56|Q9NXH1	Missense_Mutation	SNP	ENST00000335464.5	37	CCDS32723.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.043531	0.55003	.	.	ENSG00000109066	ENST00000335464;ENST00000417024	T;T	0.51325	1.51;0.71	4.81	4.81	0.61882	.	0.147581	0.56097	D	0.000022	T	0.58864	0.2152	L	0.39898	1.24	0.80722	D	1	D;D;B	0.76494	0.999;0.984;0.331	D;P;B	0.70016	0.967;0.877;0.099	T	0.57171	-0.7857	10	0.40728	T	0.16	-27.5877	15.7722	0.78180	0.0:1.0:0.0:0.0	.	8;8;8	B4DKL7;Q8NE00-2;Q8NE00	.;.;TM104_HUMAN	I	8	ENSP00000334849:T8I;ENSP00000397676:T8I	ENSP00000334849:T8I	T	+	2	0	TMEM104	70285087	0.974000	0.33945	1.000000	0.80357	0.802000	0.45316	4.637000	0.61346	2.392000	0.81423	0.561000	0.74099	ACC		0.498	TMEM104-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444442.1	NM_017728	
DNAH2	146754	hgsc.bcm.edu	37	17	7640505	7640505	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr17:7640505C>T	ENST00000572933.1	+	8	2559	c.1099C>T	c.(1099-1101)Ctc>Ttc	p.L367F	DNAH2_ENST00000389173.2_Missense_Mutation_p.L367F|DNAH2_ENST00000082259.3_Missense_Mutation_p.L367F|DNAH2_ENST00000570791.1_Missense_Mutation_p.L367F			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	367	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L367F(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GCTGATCAGTCTCATCCGCAT	0.517																																					p.L367F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1099T	17						.						124.0	107.0	113.0					17																	7640505		2203	4300	6503	7581230	SO:0001583	missense	146754	exon7			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.1099C>T	17.37:g.7640505C>T	ENSP00000458355:p.Leu367Phe	Somatic		Capture	SOLID	Phase_I	7581230	NM_020877	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.121775	0.77436	.	.	ENSG00000183914	ENST00000360606;ENST00000389173;ENST00000082259	T;T	0.55413	0.52;0.52	5.67	5.67	0.87782	Dynein heavy chain, domain-1 (1);	0.000000	0.85682	D	0.000000	T	0.62478	0.2431	M	0.63843	1.955	0.58432	D	0.999999	D;B	0.57899	0.981;0.39	P;B	0.52159	0.691;0.234	T	0.58295	-0.7661	10	0.30078	T	0.28	.	18.5321	0.90996	0.0:1.0:0.0:0.0	.	367;367	Q9P225;Q9P225-3	DYH2_HUMAN;.	F	367	ENSP00000373825:L367F;ENSP00000082259:L367F	ENSP00000082259:L367F	L	+	1	0	DNAH2	7581230	0.999000	0.42202	1.000000	0.80357	0.952000	0.60782	4.060000	0.57477	2.686000	0.91538	0.561000	0.74099	CTC		0.517	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	
FMNL1	752	hgsc.bcm.edu	37	17	43323687	43323689	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	CAT	CAT	CAT	-	CAT	CAT	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr17:43323687_43323689delCAT	ENST00000331495.3	+	25	3537_3539	c.3201_3203delCAT	c.(3199-3204)gacatc>gac	p.I1069del	FMNL1_ENST00000328118.3_In_Frame_Del_p.I1069del|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|CTD-2020K17.4_ENST00000589518.1_RNA|FMNL1_ENST00000587489.1_In_Frame_Del_p.I647del|CTD-2020K17.4_ENST00000420431.2_RNA|CTD-2020K17.4_ENST00000591361.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	1069	DAD. {ECO:0000255|PROSITE- ProRule:PRU00577}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)	p.I1069delI(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						CCATTGAAGACATCATCACAGGT	0.562											OREG0024478	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.1067_1068del	GBM(164;1247 1997 8702 11086 51972)											.	.	1	Deletion - In frame(1)	large_intestine(1)	c.3201_3203del	17						.																																			40679472	SO:0001651	inframe_deletion	752	exon25			AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"""formin-like"""	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.3201_3203delCAT	17.37:g.43323690_43323692delCAT	ENSP00000329219:p.Ile1069del	Somatic	915	Capture	SOLID	Phase_I	40679470	NM_005892	D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	In_Frame_Del	DEL	ENST00000331495.3	37	CCDS11497.1																																																																																				0.562	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450198.1	NM_005892	
GRB2	2885	hgsc.bcm.edu	37	17	73322036	73322036	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr17:73322036C>A	ENST00000392562.1	-	4	1024	c.242G>T	c.(241-243)gGg>gTg	p.G81V	GRB2_ENST00000578961.1_Missense_Mutation_p.G81V|GRB2_ENST00000392563.1_Intron|GRB2_ENST00000316804.5_Missense_Mutation_p.G81V|GRB2_ENST00000316615.5_Intron|GRB2_ENST00000392564.1_Missense_Mutation_p.G81V|GRB2_ENST00000462266.1_5'UTR			P62993	GRB2_HUMAN	growth factor receptor-bound protein 2	81	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				aging (GO:0007568)|anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell-cell signaling (GO:0007267)|cellular response to ionizing radiation (GO:0071479)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of MAPK cascade (GO:0043408)|signal transduction in response to DNA damage (GO:0042770)|T cell costimulation (GO:0031295)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Grb2-EGFR complex (GO:0070436)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|identical protein binding (GO:0042802)|insulin receptor substrate binding (GO:0043560)|neurotrophin TRKA receptor binding (GO:0005168)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)	p.G81V(1)		breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	AAGAAAGGCCCCATCGTGCCG	0.512																																					p.G81V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G242T	17						.						116.0	111.0	113.0					17																	73322036		2203	4300	6503	70833631	SO:0001583	missense	2885	exon4				CCDS11721.1, CCDS11722.1	17q24-q25	2013-02-14			ENSG00000177885	ENSG00000177885		"""SH2 domain containing"""	4566	protein-coding gene	gene with protein product		108355					Standard	NM_002086		Approved	NCKAP2	uc002jnx.4	P62993	OTTHUMG00000134332	ENST00000392562.1:c.242G>T	17.37:g.73322036C>A	ENSP00000376345:p.Gly81Val	Somatic		Capture	SOLID	Phase_I	70833631	NM_002086	P29354|Q14450|Q63057|Q63059	Missense_Mutation	SNP	ENST00000392562.1	37	CCDS11721.1	.	.	.	.	.	.	.	.	.	.	C	32	5.125550	0.94429	.	.	ENSG00000177885	ENST00000316804;ENST00000392562;ENST00000392564	T;T;T	0.76186	-1.0;-1.0;-1.0	5.8	5.8	0.92144	SH2 motif (5);	0.147080	0.64402	D	0.000007	D	0.93615	0.7961	H	0.99834	4.825	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96205	0.9148	10	0.87932	D	0	-20.1763	20.1269	0.97984	0.0:1.0:0.0:0.0	.	81	P62993	GRB2_HUMAN	V	81	ENSP00000339007:G81V;ENSP00000376345:G81V;ENSP00000376347:G81V	ENSP00000339007:G81V	G	-	2	0	GRB2	70833631	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.788000	0.85771	2.775000	0.95449	0.585000	0.79938	GGG		0.512	GRB2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259476.1		
CLDN17	26285	hgsc.bcm.edu	37	21	31538422	31538422	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr21:31538422C>T	ENST00000286808.3	-	1	549	c.514G>A	c.(514-516)Gct>Act	p.A172T		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	172					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.A172T(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						AGGACAGCAGCGCTTGCCCAG	0.517																																					p.A172T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G514A	21						.						85.0	81.0	82.0					21																	31538422		2203	4300	6503	30460293	SO:0001583	missense	26285	exon1			AJ250712	CCDS13586.1	21q22.1	2008-07-31			ENSG00000156282	ENSG00000156282		"""Claudins"""	2038	protein-coding gene	gene with protein product						12736707	Standard	NM_012131		Approved	MGC126552, MGC126554	uc011acv.2	P56750	OTTHUMG00000081873	ENST00000286808.3:c.514G>A	21.37:g.31538422C>T	ENSP00000286808:p.Ala172Thr	Somatic		Capture	SOLID	Phase_I	30460293	NM_012131	Q3MJB5|Q6UY37	Missense_Mutation	SNP	ENST00000286808.3	37	CCDS13586.1	.	.	.	.	.	.	.	.	.	.	C	6.784	0.513643	0.12944	.	.	ENSG00000156282	ENST00000286808	D	0.89617	-2.54	4.63	-6.58	0.01836	.	0.538081	0.19908	N	0.103356	T	0.81346	0.4803	M	0.63428	1.95	0.09310	N	1	B	0.16166	0.016	B	0.21151	0.033	T	0.65455	-0.6164	10	0.42905	T	0.14	.	5.1855	0.15182	0.3549:0.2676:0.0:0.3775	.	172	P56750	CLD17_HUMAN	T	172	ENSP00000286808:A172T	ENSP00000286808:A172T	A	-	1	0	CLDN17	30460293	0.000000	0.05858	0.000000	0.03702	0.127000	0.20565	-2.261000	0.01176	-1.370000	0.02144	-0.742000	0.03525	GCT		0.517	CLDN17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000182261.1	NM_012131	
KCNE1	3753	hgsc.bcm.edu	37	21	35821712	35821712	+	Missense_Mutation	SNP	G	G	A	rs74315446		TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr21:35821712G>A	ENST00000337385.3	-	3	596	c.221C>T	c.(220-222)tCg>tTg	p.S74L	KCNE1_ENST00000416357.2_Missense_Mutation_p.S74L|KCNE1_ENST00000399284.1_Missense_Mutation_p.S74L|KCNE1_ENST00000399289.3_Missense_Mutation_p.S74L|KCNE1_ENST00000399286.2_Missense_Mutation_p.S74L|KCNE1_ENST00000432085.1_Missense_Mutation_p.S74L	NM_001270402.1|NM_001270403.1	NP_001257331.1|NP_001257332.1	P15382	KCNE1_HUMAN	potassium voltage-gated channel, Isk-related family, member 1	74			S -> L (in LQT5). {ECO:0000269|PubMed:9354802}.		cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular response to cAMP (GO:0071320)|membrane repolarization (GO:0086009)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|protein N-linked glycosylation (GO:0006487)|protein O-linked glycosylation (GO:0006493)|regulation of delayed rectifier potassium channel activity (GO:1902259)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	potassium channel regulator activity (GO:0015459)|telethonin binding (GO:0031433)|voltage-gated potassium channel activity (GO:0005249)	p.S74L(1)		large_intestine(4)|lung(1)|ovary(2)	7					Indapamide(DB00808)	TGGGTCGTTCGAGTGCTCCAG	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		20703	0.0		0.001	False		,,,				2504	0.0				p.S74L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C221T	21	GRCh37	CM970799	KCNE1	M	rs74315446	.						96.0	81.0	86.0					21																	35821712		2203	4300	6503	34743582	SO:0001583	missense	3753	exon3			L28168	CCDS13636.1	21q22.1-q22.2	2014-09-17			ENSG00000180509	ENSG00000180509		"""Potassium channels"""	6240	protein-coding gene	gene with protein product		176261				8432548	Standard	NM_001127670		Approved	minK, ISK, JLNS2, LQT5	uc010gmp.4	P15382	OTTHUMG00000086236	ENST00000337385.3:c.221C>T	21.37:g.35821712G>A	ENSP00000337255:p.Ser74Leu	Somatic		Capture	SOLID	Phase_I	34743582	NM_001127668	A5H1P2|Q8N709|Q91Z94	Missense_Mutation	SNP	ENST00000337385.3	37	CCDS13636.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	18.16	3.561128	0.65538	.	.	ENSG00000180509	ENST00000399289;ENST00000337385;ENST00000432085;ENST00000399286;ENST00000416357;ENST00000399284	D;D;D;D;D;D	0.94650	-3.48;-3.48;-3.48;-3.48;-3.48;-3.48	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.97480	0.9175	M	0.84433	2.695	0.51482	D	0.999926	D	0.89917	1.0	D	0.79108	0.992	D	0.98258	1.0497	10	0.87932	D	0	-29.1492	18.2468	0.89989	0.0:0.0:1.0:0.0	.	74	P15382	KCNE1_HUMAN	L	74	ENSP00000382228:S74L;ENSP00000337255:S74L;ENSP00000412498:S74L;ENSP00000382226:S74L;ENSP00000416258:S74L;ENSP00000382225:S74L	ENSP00000337255:S74L	S	-	2	0	KCNE1	34743582	1.000000	0.71417	0.941000	0.38009	0.175000	0.22909	8.375000	0.90135	2.398000	0.81561	0.591000	0.81541	TCG		0.567	KCNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194155.1		
RCAN1	1827	hgsc.bcm.edu	37	21	35895966	35895966	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr21:35895966T>C	ENST00000313806.4	-	2	425	c.295A>G	c.(295-297)Acc>Gcc	p.T99A	RCAN1_ENST00000492600.1_Missense_Mutation_p.T44A|RCAN1_ENST00000381132.2_Missense_Mutation_p.T44A|RCAN1_ENST00000443408.2_5'UTR|RCAN1_ENST00000399272.1_Missense_Mutation_p.T18A|RCAN1_ENST00000481448.1_Missense_Mutation_p.T89A|RCAN1_ENST00000489903.1_5'UTR|RCAN1_ENST00000487990.1_5'UTR|RCAN1_ENST00000381135.3_Missense_Mutation_p.T89A|RCAN1_ENST00000482533.1_5'UTR	NM_004414.5	NP_004405.3	P53805	RCAN1_HUMAN	regulator of calcineurin 1	99					blood circulation (GO:0008015)|calcineurin-NFAT signaling cascade (GO:0033173)|central nervous system development (GO:0007417)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of smooth muscle cell differentiation (GO:0051151)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|response to ischemia (GO:0002931)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|short-term memory (GO:0007614)|signal transduction (GO:0007165)|skeletal muscle fiber development (GO:0048741)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T99A(1)		breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						TACTGAAAGGTGATGTCCTTG	0.408																																					p.T99A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A295G	21						.						119.0	119.0	119.0					21																	35895966		2203	4300	6503	34817836	SO:0001583	missense	1827	exon2				CCDS13637.1, CCDS33551.1, CCDS42921.1, CCDS74788.1, CCDS74790.1	21q22.1-q22.2	2010-08-11	2007-06-26	2007-06-26	ENSG00000159200	ENSG00000159200			3040	protein-coding gene	gene with protein product		602917	"""Down syndrome critical region gene 1"""	DSCR1		8595418	Standard	XM_005260929		Approved		uc002yue.3	P53805	OTTHUMG00000086235	ENST00000313806.4:c.295A>G	21.37:g.35895966T>C	ENSP00000320768:p.Thr99Ala	Somatic		Capture	SOLID	Phase_I	34817836	NM_004414	D3DSF9|O00582|O00583|Q53XT0|Q6IBC6|Q7Z555|Q96R03|Q9BU69|Q9UF15|Q9UME4	Missense_Mutation	SNP	ENST00000313806.4	37	CCDS13637.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.328756	0.81690	.	.	ENSG00000159200	ENST00000313806;ENST00000381132;ENST00000399272;ENST00000481448;ENST00000381135	.	.	.	5.1	5.1	0.69264	.	0.151798	0.56097	D	0.000024	T	0.69024	0.3065	L	0.46157	1.445	0.80722	D	1	D;D;B;D	0.64830	0.994;0.967;0.273;0.992	P;P;B;D	0.74348	0.9;0.897;0.115;0.983	T	0.69072	-0.5242	9	0.44086	T	0.13	-26.7178	14.8471	0.70267	0.0:0.0:0.0:1.0	.	44;99;18;44	B7Z1F0;P53805;P53805-3;Q6FGP2	.;RCAN1_HUMAN;.;.	A	99;44;18;89;89	.	ENSP00000320768:T99A	T	-	1	0	RCAN1	34817836	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.139000	0.50577	2.040000	0.60383	0.533000	0.62120	ACC		0.408	RCAN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194142.1		
TXNDC11	51061	hgsc.bcm.edu	37	16	11824572	11824572	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr16:11824572G>A	ENST00000356957.3	-	4	735	c.628C>T	c.(628-630)Cgc>Tgc	p.R210C	TXNDC11_ENST00000283033.5_Missense_Mutation_p.R210C			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	210	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)	p.R210C(1)		endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						ATCACCCGGCGGACAAACTTC	0.353																																					p.R210C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C628T	16						.						106.0	106.0	106.0					16																	11824572		2197	4300	6497	11732073	SO:0001583	missense	51061	exon4			BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"""EF-hand binding protein 1"""					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.628C>T	16.37:g.11824572G>A	ENSP00000349439:p.Arg210Cys	Somatic		Capture	SOLID	Phase_I	11732073	NM_015914	O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Missense_Mutation	SNP	ENST00000356957.3	37		.	.	.	.	.	.	.	.	.	.	G	17.33	3.362749	0.61403	.	.	ENSG00000153066	ENST00000356957;ENST00000283033;ENST00000436567	T;T	0.23348	1.91;1.91	4.89	4.89	0.63831	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.059126	0.64402	D	0.000001	T	0.31827	0.0809	M	0.66297	2.02	0.80722	D	1	B;B	0.23316	0.077;0.083	B;B	0.22386	0.039;0.015	T	0.12967	-1.0527	10	0.54805	T	0.06	-25.1981	17.2245	0.86965	0.0:0.0:1.0:0.0	.	210;210	Q6PKC3;Q6PKC3-2	TXD11_HUMAN;.	C	210;210;153	ENSP00000349439:R210C;ENSP00000283033:R210C	ENSP00000283033:R210C	R	-	1	0	TXNDC11	11732073	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.654000	0.74387	2.528000	0.85240	0.591000	0.81541	CGC		0.353	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000437057.1	NM_015914	
MKL2	57496	hgsc.bcm.edu	37	16	14354945	14354945	+	Silent	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr16:14354945C>T	ENST00000341243.5	+	15	2911	c.2911C>T	c.(2911-2913)Cta>Tta	p.L971L	MKL2_ENST00000318282.5_Silent_p.L932L|MKL2_ENST00000574045.1_Silent_p.L932L|MKL2_ENST00000571589.1_Silent_p.L982L			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	971					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.L932L(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGAGAACCAACTAGAAGCTTT	0.488																																					p.L932L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2794T	16						.						97.0	101.0	100.0					16																	14354945		2197	4300	6497	14262446	SO:0001819	synonymous_variant	57496	exon17			AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.2911C>T	16.37:g.14354945C>T		Somatic		Capture	SOLID	Phase_I	14262446	NM_014048	A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Silent	SNP	ENST00000341243.5	37																																																																																					0.488	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048	
PALB2	79728	hgsc.bcm.edu	37	16	23641416	23641416	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr16:23641416G>A	ENST00000261584.4	-	5	2211	c.2059C>T	c.(2059-2061)Cca>Tca	p.P687S		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	687					DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P687S(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TGCGAGTTTGGCCTTTTGGGA	0.423			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks																													p.P687S		yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	16	16p12.1	79728	partner and localizer of BRCA2		"""L, O, E"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2059T	16						.						125.0	122.0	123.0					16																	23641416		2197	4300	6497	23548917	SO:0001583	missense	79728	exon5				CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"""Fanconi anemia, complementation groups"""	26144	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group N"""	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.2059C>T	16.37:g.23641416G>A	ENSP00000261584:p.Pro687Ser	Somatic		Capture	SOLID	Phase_I	23548917	NM_024675	A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Missense_Mutation	SNP	ENST00000261584.4	37	CCDS32406.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.587967	0.28268	.	.	ENSG00000083093	ENST00000261584	T	0.22134	1.97	5.64	-4.31	0.03698	.	1.010590	0.07935	N	0.978170	T	0.12220	0.0297	L	0.43701	1.375	0.09310	N	1	B	0.23377	0.084	B	0.22601	0.04	T	0.37820	-0.9689	10	0.21540	T	0.41	0.5278	0.1675	0.00110	0.2754:0.24:0.2401:0.2446	.	687	Q86YC2	PALB2_HUMAN	S	687	ENSP00000261584:P687S	ENSP00000261584:P687S	P	-	1	0	PALB2	23548917	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.197000	0.09518	-0.974000	0.03550	-0.345000	0.07892	CCA		0.423	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675	
GLYR1	84656	hgsc.bcm.edu	37	16	4864565	4864565	+	Silent	SNP	G	G	A	rs201145933		TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr16:4864565G>A	ENST00000321919.9	-	11	1066	c.990C>T	c.(988-990)tgC>tgT	p.C330C	GLYR1_ENST00000591451.1_Silent_p.C324C|GLYR1_ENST00000436648.5_Silent_p.C249C|GLYR1_ENST00000381983.3_Silent_p.C313C	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	330					pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)	p.C330C(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						GATCCGACACGCAGGCGAAAG	0.607																																					p.C330C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C990T	16						.						62.0	60.0	61.0					16																	4864565		2197	4300	6497	4804566	SO:0001819	synonymous_variant	84656	exon11			AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"""nuclear protein 60kDa"""	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.990C>T	16.37:g.4864565G>A		Somatic		Capture	SOLID	Phase_I	4804566	NM_032569	B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Silent	SNP	ENST00000321919.9	37	CCDS10524.1																																																																																				0.607	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251717.2	NM_032569	
ABCC12	94160	hgsc.bcm.edu	37	16	48174684	48174684	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr16:48174684C>T	ENST00000311303.3	-	4	916	c.571G>A	c.(571-573)Gcc>Acc	p.A191T	ABCC12_ENST00000448542.1_Missense_Mutation_p.A191T|ABCC12_ENST00000416054.1_Missense_Mutation_p.A191T	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	191	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.A191T(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				AACCGGATGGCCGTGCGGTAG	0.527																																					p.A191T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G571A	16						.						101.0	104.0	103.0					16																	48174684		2201	4300	6501	46732185	SO:0001583	missense	94160	exon4			AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.571G>A	16.37:g.48174684C>T	ENSP00000311030:p.Ala191Thr	Somatic		Capture	SOLID	Phase_I	46732185	NM_033226	Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.350769	0.61183	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939;ENST00000416054	D;D;D	0.89123	-2.47;-2.47;-2.47	6.07	5.12	0.69794	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.054763	0.64402	D	0.000001	D	0.93871	0.8039	M	0.79123	2.44	0.51767	D	0.999936	D;D	0.65815	0.995;0.991	D;D	0.70716	0.97;0.97	D	0.94489	0.7700	10	0.87932	D	0	.	14.0718	0.64865	0.0:0.9271:0.0:0.0729	.	191;191	Q96J65-2;Q96J65	.;MRP9_HUMAN	T	191	ENSP00000311030:A191T;ENSP00000401855:A191T;ENSP00000413046:A191T	ENSP00000311030:A191T	A	-	1	0	ABCC12	46732185	0.988000	0.35896	0.222000	0.23844	0.005000	0.04900	5.046000	0.64226	1.571000	0.49722	0.655000	0.94253	GCC		0.527	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226	
NLRC5	84166	hgsc.bcm.edu	37	16	57088995	57088995	+	Silent	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr16:57088995C>T	ENST00000262510.6	+	26	3873	c.3648C>T	c.(3646-3648)ggC>ggT	p.G1216G	NLRC5_ENST00000308149.7_Silent_p.G1216G|RP11-322D14.2_ENST00000562970.1_RNA|NLRC5_ENST00000539144.1_Silent_p.G1216G|NLRC5_ENST00000436936.1_Silent_p.G1216G	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1216					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)	p.G1216G(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AGGAGGAAGGCGTGTGCTGTG	0.577																																					p.G1216G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3648T	16						.						141.0	105.0	117.0					16																	57088995		2198	4300	6498	55646496	SO:0001819	synonymous_variant	84166	exon26			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.3648C>T	16.37:g.57088995C>T		Somatic		Capture	SOLID	Phase_I	55646496	NM_032206	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Silent	SNP	ENST00000262510.6	37	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	C	8.748	0.920552	0.17982	.	.	ENSG00000140853	ENST00000538805	.	.	.	4.83	-8.5	0.00927	.	.	.	.	.	T	0.15825	0.0381	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.20538	-1.0272	4	.	.	.	.	2.6248	0.04926	0.2109:0.1588:0.1044:0.5258	.	.	.	.	C	969	.	.	R	+	1	0	NLRC5	55646496	0.000000	0.05858	0.000000	0.03702	0.516000	0.34256	-1.743000	0.01834	-1.546000	0.01717	-0.482000	0.04802	CGT		0.577	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206	
DDX19B	11269	hgsc.bcm.edu	37	16	70359507	70359507	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr16:70359507G>A	ENST00000288071.6	+	7	768	c.523G>A	c.(523-525)Gcc>Acc	p.A175T	DDX19B_ENST00000355992.3_Missense_Mutation_p.A144T|DDX19B_ENST00000563392.1_Missense_Mutation_p.A66T|RP11-529K1.2_ENST00000562077.1_RNA|DDX19B_ENST00000568625.1_Missense_Mutation_p.A66T|DDX19B_ENST00000563206.1_Missense_Mutation_p.A180T|DDX19B_ENST00000393657.2_Missense_Mutation_p.A66T|RP11-529K1.3_ENST00000567706.1_Missense_Mutation_p.A175T|DDX19B_ENST00000451014.3_Missense_Mutation_p.A149T	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B	175	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|N-terminal lobe.				mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)	p.A175T(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				GTATGAGCTCGCCCTCCAAAC	0.413																																					p.A66T	Esophageal Squamous(26;382 757 1343 9728 15939)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G196A	16						.						190.0	178.0	182.0					16																	70359507		2198	4300	6498	68917008	SO:0001583	missense	11269	exon5			AJ237946	CCDS10888.1, CCDS32475.1, CCDS42187.1, CCDS58478.1	16q22.3	2012-02-23	2012-02-23	2005-07-13	ENSG00000157349	ENSG00000157349		"""DEAD-boxes"""	2742	protein-coding gene	gene with protein product		605812	"""DEAD (Asp-Glu-Ala-As) box polypeptide 19"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 19 (Dbp5, yeast, homolog)"""	DDX19		10428971	Standard	NM_007242		Approved	DBP5	uc002eyo.4	Q9UMR2	OTTHUMG00000137577	ENST00000288071.6:c.523G>A	16.37:g.70359507G>A	ENSP00000288071:p.Ala175Thr	Somatic		Capture	SOLID	Phase_I	68917008	NM_001014449	B3KNE9|B4DXS6|E7EMK4|Q6FIB7|Q6IAE0|Q96KE7|Q9H0U0	Missense_Mutation	SNP	ENST00000288071.6	37	CCDS10888.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.710770	0.89112	.	.	ENSG00000157349	ENST00000451014;ENST00000355992;ENST00000393657;ENST00000288071	T;T;T;T	0.20332	2.08;2.08;2.08;2.08	5.49	4.55	0.56014	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.51092	0.1654	M	0.89414	3.03	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.87578	0.978;0.998;0.93	T	0.59894	-0.7368	10	0.72032	D	0.01	-8.4137	12.0563	0.53538	0.0822:0.0:0.9178:0.0	.	149;144;175	E7EMK4;Q9UMR2-2;Q9UMR2	.;.;DD19B_HUMAN	T	149;144;66;175	ENSP00000392639:A149T;ENSP00000348271:A144T;ENSP00000377267:A66T;ENSP00000288071:A175T	ENSP00000288071:A175T	A	+	1	0	DDX19B	68917008	1.000000	0.71417	0.583000	0.28640	0.802000	0.45316	9.263000	0.95617	1.569000	0.49696	0.655000	0.94253	GCC		0.413	DDX19B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268965.3	NM_007242	
FANCA	2175	hgsc.bcm.edu	37	16	89877149	89877149	+	Missense_Mutation	SNP	C	C	T	rs375648811		TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr16:89877149C>T	ENST00000389301.3	-	5	518	c.488G>A	c.(487-489)cGt>cAt	p.R163H	FANCA_ENST00000568369.1_Missense_Mutation_p.R163H|FANCA_ENST00000563673.1_Missense_Mutation_p.R163H|FANCA_ENST00000389302.3_Missense_Mutation_p.R163H|FANCA_ENST00000543736.1_Intron|FANCA_ENST00000534992.1_Missense_Mutation_p.R163H	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	163					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.R163H(1)		breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GAAGGAAAGACGGGAGAACAT	0.373			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.R163H		yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"""Fanconi anemia, complementation group A"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G488A	16						.	C	HIS/ARG,HIS/ARG	1,4395	2.1+/-5.4	0,1,2197	107.0	108.0	108.0		488,488	4.0	0.8	16		108	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FANCA	NM_000135.2,NM_001018112.1	29,29	0,2,6496	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	163/1456,163/298	89877149	2,12994	2198	4300	6498	88404650	SO:0001583	missense	2175	exon5	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.488G>A	16.37:g.89877149C>T	ENSP00000373952:p.Arg163His	Somatic		Capture	SOLID	Phase_I	88404650	NM_000135	A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	ENST00000389301.3	37	CCDS32515.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.753202	0.49362	2.27E-4	1.16E-4	ENSG00000187741	ENST00000389301;ENST00000389302;ENST00000534992	T;T;T	0.45668	0.89;0.89;0.89	4.96	4.01	0.46588	.	0.129460	0.35291	N	0.003307	T	0.60843	0.2300	M	0.71581	2.175	0.39878	D	0.973597	D;P;P;P;D	0.89917	1.0;0.779;0.779;0.779;1.0	D;B;B;B;D	0.87578	0.998;0.219;0.219;0.219;0.998	T	0.65504	-0.6152	10	0.72032	D	0.01	-14.5811	10.6982	0.45911	0.0:0.9094:0.0:0.0906	.	163;163;163;163;163	B4DRI7;A0PJU8;F5H8D5;O15360-2;O15360	.;.;.;.;FANCA_HUMAN	H	163	ENSP00000373952:R163H;ENSP00000373953:R163H;ENSP00000443675:R163H	ENSP00000373952:R163H	R	-	2	0	FANCA	88404650	0.973000	0.33851	0.843000	0.33291	0.057000	0.15508	2.457000	0.45005	1.233000	0.43693	0.650000	0.86243	CGT		0.373	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1		
SS18	6760	hgsc.bcm.edu	37	18	23637640	23637640	+	Missense_Mutation	SNP	G	G	A	rs149811250		TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr18:23637640G>A	ENST00000415083.2	-	4	353	c.298C>T	c.(298-300)Cgc>Tgc	p.R100C	SS18_ENST00000542420.2_Missense_Mutation_p.R77C|SS18_ENST00000542743.1_Missense_Mutation_p.R48C|SS18_ENST00000545952.1_Missense_Mutation_p.R48C|SS18_ENST00000539849.1_Missense_Mutation_p.R18C|SS18_ENST00000269137.7_Missense_Mutation_p.R100C|SS18_ENST00000585241.1_5'UTR	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	100	Transcriptional activation.				cell morphogenesis (GO:0000902)|ephrin receptor signaling pathway (GO:0048013)|intracellular signal transduction (GO:0035556)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)	p.R100C(1)	SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					TTGTGAGAGCGTGGAGGTGGG	0.527			T	"""SSX1,  SSX2"""	synovial sarcoma																																p.R100C			Dom	yes		18	18q11.2	6760	"""synovial sarcoma translocation, chromosome 18"""		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C298T	18						.	G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	100.0	101.0	101.0		298,298	5.3	1.0	18	dbSNP_134	101	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SS18	NM_001007559.1,NM_005637.2	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	100/419,100/388	23637640	1,13005	2203	4300	6503	21891638	SO:0001583	missense	6760	exon4			X79201	CCDS32807.1, CCDS54183.1	18q11.2	2008-07-28				ENSG00000141380			11340	protein-coding gene	gene with protein product		600192		SSXT		8152806, 7951320, 16484776	Standard	XM_005258334		Approved	SYT	uc002kvm.3	Q15532		ENST00000415083.2:c.298C>T	18.37:g.23637640G>A	ENSP00000414516:p.Arg100Cys	Somatic		Capture	SOLID	Phase_I	21891638	NM_005637	B0YJ95|Q16404|Q4VAX1|Q9BXC6	Missense_Mutation	SNP	ENST00000415083.2	37	CCDS32807.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.448250	0.43429	0.0	1.16E-4	ENSG00000141380	ENST00000415083;ENST00000269138;ENST00000269137;ENST00000542420;ENST00000542743;ENST00000539849;ENST00000545952	T;T;T;T;T	0.33654	1.44;1.44;1.43;1.4;1.43	5.32	5.32	0.75619	.	0.107658	0.64402	D	0.000002	T	0.42810	0.1219	N	0.22421	0.69	0.80722	D	1	D;D;D	0.76494	0.994;0.994;0.999	B;P;P	0.57324	0.353;0.451;0.818	T	0.19844	-1.0293	10	0.39692	T	0.17	-5.0074	19.1982	0.93698	0.0:0.0:1.0:0.0	.	48;100;100	B4E2J6;Q4VAX0;Q15532	.;.;SSXT_HUMAN	C	103;100;100;77;48;18;48	ENSP00000269137:R100C;ENSP00000438066:R77C;ENSP00000444551:R48C;ENSP00000444647:R18C;ENSP00000443097:R48C	ENSP00000269137:R100C	R	-	1	0	SS18	21891638	1.000000	0.71417	0.991000	0.47740	0.744000	0.42396	9.242000	0.95408	2.773000	0.95371	0.655000	0.94253	CGC		0.527	SS18-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446226.1		
DSG4	147409	hgsc.bcm.edu	37	18	28966731	28966731	+	Silent	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr18:28966731C>T	ENST00000308128.4	+	3	300	c.165C>T	c.(163-165)gcC>gcT	p.A55A	DSG4_ENST00000359747.4_Silent_p.A55A|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	55	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A55A(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TCAAGTTTGCCGCAGCCTGTC	0.448																																					p.A55A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C165T	18						.						108.0	100.0	103.0					18																	28966731		2203	4300	6503	27220729	SO:0001819	synonymous_variant	147409	exon3			AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.165C>T	18.37:g.28966731C>T		Somatic		Capture	SOLID	Phase_I	27220729	NM_001134453	A2RUI1|Q6Y9L9|Q8IXV4	Silent	SNP	ENST00000308128.4	37	CCDS11897.1																																																																																				0.448	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986	
TYMS	7298	hgsc.bcm.edu	37	18	672957	672957	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr18:672957A>G	ENST00000323274.10	+	7	1041	c.902A>G	c.(901-903)tAc>tGc	p.Y301C	ENOSF1_ENST00000383578.3_3'UTR|TYMS_ENST00000581920.1_3'UTR|ENOSF1_ENST00000319815.6_3'UTR|ENOSF1_ENST00000583973.1_5'Flank|TYMS_ENST00000323224.7_Missense_Mutation_p.Y267C|TYMS_ENST00000323250.5_Missense_Mutation_p.Y218C	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN	thymidylate synthetase	301					aging (GO:0007568)|cartilage development (GO:0051216)|circadian rhythm (GO:0007623)|deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|developmental growth (GO:0048589)|dTMP biosynthetic process (GO:0006231)|dTTP biosynthetic process (GO:0006235)|dUMP metabolic process (GO:0046078)|G1/S transition of mitotic cell cycle (GO:0000082)|immortalization of host cell by virus (GO:0019088)|intestinal epithelial cell maturation (GO:0060574)|mitotic cell cycle (GO:0000278)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|organ regeneration (GO:0031100)|polysaccharide metabolic process (GO:0005976)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to organophosphorus (GO:0046683)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|response to vitamin A (GO:0033189)|small molecule metabolic process (GO:0044281)|tetrahydrofolate metabolic process (GO:0046653)|uracil metabolic process (GO:0019860)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cofactor binding (GO:0048037)|drug binding (GO:0008144)|folic acid binding (GO:0005542)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|thymidylate synthase activity (GO:0004799)	p.Y301C(1)		endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8					Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Methotrexate(DB00563)|Pemetrexed(DB00642)|Pralatrexate(DB06813)|Raltitrexed(DB00293)|Trifluridine(DB00432)|Trimethoprim(DB00440)	ATTGAAGGGTACAATCCGCAT	0.438																																					p.Y301C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A902G	18						.						102.0	105.0	104.0					18																	672957		2203	4300	6503	662957	SO:0001583	missense	7298	exon7			X02308	CCDS11821.1	18p11.31-p11.21	2014-09-17			ENSG00000176890	ENSG00000176890	2.1.1.45		12441	protein-coding gene	gene with protein product		188350		TS			Standard	NM_001071		Approved	Tsase, TMS, HsT422	uc010dka.1	P04818	OTTHUMG00000131473	ENST00000323274.10:c.902A>G	18.37:g.672957A>G	ENSP00000315644:p.Tyr301Cys	Somatic		Capture	SOLID	Phase_I	662957	NM_001071	Q8WYK3|Q8WYK4	Missense_Mutation	SNP	ENST00000323274.10	37	CCDS11821.1	.	.	.	.	.	.	.	.	.	.	A	17.00	3.276257	0.59649	.	.	ENSG00000176890	ENST00000323274;ENST00000323224;ENST00000323250	.	.	.	5.9	5.9	0.94986	Thymidylate synthase/dCMP hydroxymethylase domain (2);	0.053667	0.85682	D	0.000000	D	0.92031	0.7475	H	0.99811	4.8	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95676	0.8728	9	0.87932	D	0	-34.7118	16.3101	0.82865	1.0:0.0:0.0:0.0	.	218;267;301	Q8WYK4;Q8WYK3;P04818	.;.;TYSY_HUMAN	C	301;267;218	.	ENSP00000314727:Y267C	Y	+	2	0	TYMS	662957	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.000000	0.93564	2.247000	0.74100	0.528000	0.53228	TAC		0.438	TYMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254316.1	NM_001071	
LAMA1	284217	hgsc.bcm.edu	37	18	7013899	7013899	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr18:7013899T>C	ENST00000389658.3	-	23	3371	c.3278A>G	c.(3277-3279)gAc>gGc	p.D1093G		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1093	Laminin EGF-like 13. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.D1093G(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CCCCCTCAGGTCACAGTCACA	0.592																																					p.D1093G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3278G	18						.						56.0	50.0	52.0					18																	7013899		2203	4300	6503	7003899	SO:0001583	missense	284217	exon23			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.3278A>G	18.37:g.7013899T>C	ENSP00000374309:p.Asp1093Gly	Somatic		Capture	SOLID	Phase_I	7003899	NM_005559		Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	T	13.92	2.380526	0.42207	.	.	ENSG00000101680	ENST00000389658	T	0.63913	-0.07	5.91	5.91	0.95273	EGF-like, laminin (3);	0.058674	0.64402	D	0.000004	T	0.79776	0.4504	M	0.90977	3.165	0.43187	D	0.995014	P	0.49185	0.92	P	0.54174	0.744	T	0.83129	-0.0114	10	0.48119	T	0.1	.	16.3385	0.83074	0.0:0.0:0.0:1.0	.	1093	P25391	LAMA1_HUMAN	G	1093	ENSP00000374309:D1093G	ENSP00000374309:D1093G	D	-	2	0	LAMA1	7003899	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	4.605000	0.61119	2.250000	0.74265	0.523000	0.50628	GAC		0.592	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	
TTR	7276	hgsc.bcm.edu	37	18	29178561	29178561	+	Missense_Mutation	SNP	C	C	T	rs371566010		TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr18:29178561C>T	ENST00000237014.3	+	4	544	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C		NM_000371.3	NP_000362.1	P02766	TTHY_HUMAN	transthyretin	123					extracellular matrix organization (GO:0030198)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	hormone binding (GO:0042562)|identical protein binding (GO:0042802)	p.R123C(1)|p.R123S(1)		cervix(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	13			OV - Ovarian serous cystadenocarcinoma(10;0.00523)		Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diflunisal(DB00861)|Dimethyl sulfoxide(DB01093)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	CTCCGGCCCCCGCCGCTACAC	0.562																																					p.R123C												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C367T	18	GRCh37	CM035093	TTR	M		.	C	CYS/ARG	0,4406		0,0,2203	67.0	62.0	64.0		367	6.0	0.2	18		64	1,8599		0,1,4299	no	missense	TTR	NM_000371.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	123/148	29178561	1,13005	2203	4300	6503	27432559	SO:0001583	missense	7276	exon4			M10605	CCDS11899.1	18q12.1	2014-09-17	2008-07-31		ENSG00000118271	ENSG00000118271			12405	protein-coding gene	gene with protein product		176300	"""prealbumin, amyloidosis type I"", ""carpal tunnel syndrome 1"""	PALB, CTS1		8309582	Standard	NM_000371		Approved	HsT2651, CTS	uc002kwx.4	P02766	OTTHUMG00000131984	ENST00000237014.3:c.367C>T	18.37:g.29178561C>T	ENSP00000237014:p.Arg123Cys	Somatic		Capture	SOLID	Phase_I	27432559	NM_000371	Q549C7|Q6IB96|Q9UBZ6|Q9UCM9	Missense_Mutation	SNP	ENST00000237014.3	37	CCDS11899.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.467553	0.63625	0.0	1.16E-4	ENSG00000118271	ENST00000237014;ENST00000432547;ENST00000541025	D	0.96168	-3.93	5.98	5.98	0.97165	Transthyretin/hydroxyisourate hydrolase, superfamily (4);	0.000000	0.85682	D	0.000000	D	0.98324	0.9444	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.98691	1.0696	10	0.87932	D	0	-19.9086	20.0317	0.97542	0.0:1.0:0.0:0.0	.	123	P02766	TTHY_HUMAN	C	123;160;123	ENSP00000237014:R123C	ENSP00000237014:R123C	R	+	1	0	TTR	27432559	1.000000	0.71417	0.241000	0.24154	0.034000	0.12701	6.061000	0.71148	2.837000	0.97791	0.591000	0.81541	CGC		0.562	TTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254948.1	NM_000371	
ATP2B2	491	hgsc.bcm.edu	37	3	10370505	10370505	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr3:10370505G>A	ENST00000352432.4	-	22	3794	c.3725C>T	c.(3724-3726)tCg>tTg	p.S1242L	MIR378B_ENST00000578876.1_RNA|ATP2B2_ENST00000467702.2_5'UTR|ATP2B2_ENST00000360273.2_Missense_Mutation_p.S1242L|ATP2B2_ENST00000397077.1_Missense_Mutation_p.S1197L|ATP2B2_ENST00000343816.4_Missense_Mutation_p.S1228L|ATP2B2_ENST00000383800.4_Missense_Mutation_p.S1197L			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	1242					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)	p.S1197L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CAGCTAAAGCGACGTCTCCAG	0.622																																					p.S1197L	Ovarian(125;1619 1709 15675 19819 38835)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3590T	3						.						93.0	83.0	86.0					3																	10370505		2203	4300	6503	10345505	SO:0001583	missense	491	exon20			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.3725C>T	3.37:g.10370505G>A	ENSP00000324172:p.Ser1242Leu	Somatic		Capture	SOLID	Phase_I	10345505	NM_001683	O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520538	0.85495	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000429937;ENST00000452124	D;D;D;D;D;D	0.95307	-3.67;-3.62;-3.62;-3.67;-3.66;-3.6	5.97	5.97	0.96955	.	0.286503	0.33875	N	0.004474	D	0.97390	0.9146	M	0.77820	2.39	0.58432	D	0.999999	P;P;D	0.89917	0.83;0.896;1.0	B;B;D	0.85130	0.173;0.331;0.997	D	0.97371	0.9976	10	0.87932	D	0	-1.3334	20.417	0.99027	0.0:0.0:1.0:0.0	.	1177;1209;1242	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	L	1242;1197;1197;1242;1228;1177;431;1098	ENSP00000324172:S1242L;ENSP00000373311:S1197L;ENSP00000380267:S1197L;ENSP00000353414:S1242L;ENSP00000344677:S1228L;ENSP00000414854:S1098L	ENSP00000344677:S1228L	S	-	2	0	ATP2B2	10345505	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.370000	0.73114	2.832000	0.97577	0.585000	0.79938	TCG		0.622	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683	
FBXO40	51725	hgsc.bcm.edu	37	3	121345690	121345690	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr3:121345690G>A	ENST00000338040.4	+	4	2477	c.2063G>A	c.(2062-2064)cGt>cAt	p.R688H		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	688					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R688H(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		TGTCAGCCCCGTGAGCAGGCC	0.488																																					p.R688H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2063A	3						.						95.0	94.0	94.0					3																	121345690		2203	4300	6503	122828380	SO:0001583	missense	51725	exon4			AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"""F-boxes /  ""other"""""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.2063G>A	3.37:g.121345690G>A	ENSP00000337510:p.Arg688His	Somatic		Capture	SOLID	Phase_I	122828380	NM_016298	B2RAX7|Q32M70|Q9ULM5	Missense_Mutation	SNP	ENST00000338040.4	37	CCDS33835.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.123972	0.37533	.	.	ENSG00000163833	ENST00000338040	T	0.33865	1.39	6.17	-11.9	0.00025	.	1.243050	0.05185	N	0.502148	T	0.18173	0.0436	N	0.16368	0.405	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.29088	-1.0023	10	0.46703	T	0.11	4.7126	10.2721	0.43489	0.5093:0.1594:0.3313:0.0	.	688	Q9UH90	FBX40_HUMAN	H	688	ENSP00000337510:R688H	ENSP00000337510:R688H	R	+	2	0	FBXO40	122828380	0.000000	0.05858	0.001000	0.08648	0.590000	0.36582	-1.029000	0.03585	-1.717000	0.01385	-0.136000	0.14681	CGT		0.488	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1	NM_016298	
KPNA1	3836	hgsc.bcm.edu	37	3	122215372	122215372	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr3:122215372T>C	ENST00000344337.6	-	2	217	c.41A>G	c.(40-42)tAc>tGc	p.Y14C		NM_002264.3	NP_002255.3	P52294	IMA5_HUMAN	karyopherin alpha 1 (importin alpha 5)	14	IBB. {ECO:0000255|PROSITE- ProRule:PRU00561}.				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|regulation of DNA recombination (GO:0000018)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)	p.Y14C(1)		NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		TTTGTTCTTGTAACTTTTCAG	0.428																																					p.Y14C	Melanoma(12;340 801 11196 19797)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A41G	3						.						160.0	150.0	153.0					3																	122215372		2203	4300	6503	123698062	SO:0001583	missense	3836	exon2			S75295	CCDS3013.1	3q21	2013-02-14			ENSG00000114030	ENSG00000114030		"""Importins"", ""Armadillo repeat containing"""	6394	protein-coding gene	gene with protein product		600686				8052633	Standard	NM_002264		Approved	SRP1, RCH2, NPI-1, IPOA5	uc003efe.2	P52294	OTTHUMG00000159487	ENST00000344337.6:c.41A>G	3.37:g.122215372T>C	ENSP00000343701:p.Tyr14Cys	Somatic		Capture	SOLID	Phase_I	123698062	NM_002264	D3DN93|Q6IBQ9|Q9BQ56	Missense_Mutation	SNP	ENST00000344337.6	37	CCDS3013.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.287483	0.80803	.	.	ENSG00000114030	ENST00000344337;ENST00000465882;ENST00000482287;ENST00000476916;ENST00000493510	T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15	5.43	5.43	0.79202	Importin-alpha, importin-beta-binding domain (2);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83339	0.5233	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.87501	0.2433	10	0.87932	D	0	-5.9408	14.8156	0.70031	0.0:0.0:0.0:1.0	.	14	P52294	IMA1_HUMAN	C	14	ENSP00000343701:Y14C;ENSP00000419890:Y14C;ENSP00000417166:Y14C;ENSP00000417319:Y14C;ENSP00000419257:Y14C	ENSP00000343701:Y14C	Y	-	2	0	KPNA1	123698062	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	7.344000	0.79328	2.279000	0.76181	0.533000	0.62120	TAC		0.428	KPNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355740.1	NM_002264	
PXYLP1	92370	hgsc.bcm.edu	37	3	141011879	141011879	+	Silent	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr3:141011879C>T	ENST00000286353.4	+	6	1412	c.1275C>T	c.(1273-1275)ggC>ggT	p.G425G	ACPL2_ENST00000508812.1_Silent_p.G416G|ACPL2_ENST00000393010.2_Silent_p.G425G|ACPL2_ENST00000502783.1_Silent_p.G387G|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000504264.1_Silent_p.G408G|ACPL2_ENST00000393007.1_Silent_p.G409G	NM_001037172.1|NM_001282728.1	NP_001032249.1|NP_001269657.1	Q8TE99	PXYP1_HUMAN		425						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)	p.G425G(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						TTTACAATGGCGTCGATGTCA	0.512																																					p.G425G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1275T	3						.						135.0	129.0	131.0					3																	141011879		2203	4300	6503	142494569	SO:0001819	synonymous_variant	92370	exon8																														ENST00000286353.4:c.1275C>T	3.37:g.141011879C>T		Somatic		Capture	SOLID	Phase_I	142494569	NM_152282	D3DNF5|Q49AJ2|W0TR04	Silent	SNP	ENST00000286353.4	37	CCDS3116.1	.	.	.	.	.	.	.	.	.	.	C	6.716	0.500818	0.12822	.	.	ENSG00000155893	ENST00000332228	.	.	.	5.72	-11.4	0.00090	.	.	.	.	.	T	0.32194	0.0821	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49781	-0.8903	5	0.27082	T	0.32	.	1.5171	0.02508	0.1762:0.2141:0.1898:0.4199	.	.	.	.	V	221	.	ENSP00000327587:A221V	A	+	2	0	ACPL2	142494569	0.000000	0.05858	0.000000	0.03702	0.976000	0.68499	-2.670000	0.00844	-3.748000	0.00112	-0.302000	0.09304	GCG		0.512	ACPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359533.2		
ATR	545	hgsc.bcm.edu	37	3	142185282	142185282	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr3:142185282G>A	ENST00000350721.4	-	40	6902	c.6781C>T	c.(6781-6783)Cct>Tct	p.P2261S	RP11-383G6.3_ENST00000460977.1_RNA|ATR_ENST00000383101.3_Missense_Mutation_p.P2197S	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2261					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.P2261S(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GATTGTAGAGGAATGAGGATT	0.398								Other conserved DNA damage response genes																													p.P2261S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6781T	3						.						186.0	166.0	172.0					3																	142185282		2203	4300	6503	143667972	SO:0001583	missense	545	exon40			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.6781C>T	3.37:g.142185282G>A	ENSP00000343741:p.Pro2261Ser	Somatic		Capture	SOLID	Phase_I	143667972	NM_001184	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	CCDS3124.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.396433|4.396433	0.83011|0.83011	.|.	.|.	ENSG00000175054|ENSG00000175054	ENST00000350721;ENST00000383101|ENST00000513291	T;T|.	0.79554|.	-1.28;-1.28|.	5.36|5.36	4.49|4.49	0.54785|0.54785	Protein kinase-like domain (1);|.	0.051549|.	0.85682|.	N|.	0.000000|.	D|D	0.83280|0.83280	0.5220|0.5220	M|M	0.90870|0.90870	3.155|3.155	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.65443|.	0.935|.	D|D	0.86704|0.86704	0.1931|0.1931	10|5	0.62326|.	D|.	0.03|.	-8.7904|-8.7904	14.0249|14.0249	0.64580|0.64580	0.0735:0.0:0.9265:0.0|0.0735:0.0:0.9265:0.0	.|.	2261|.	Q13535|.	ATR_HUMAN|.	S|F	2261;2197|107	ENSP00000343741:P2261S;ENSP00000372581:P2197S|.	ENSP00000343741:P2261S|.	P|S	-|-	1|2	0|0	ATR|ATR	143667972|143667972	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	9.852000|9.852000	0.99516|0.99516	1.256000|1.256000	0.44068|0.44068	0.585000|0.585000	0.79938|0.79938	CCT|TCC		0.398	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184	
ATR	545	hgsc.bcm.edu	37	3	142212036	142212036	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr3:142212036C>A	ENST00000350721.4	-	35	6137	c.6016G>T	c.(6016-6018)Gtg>Ttg	p.V2006L	ATR_ENST00000383101.3_Missense_Mutation_p.V1942L	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2006	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V2006L(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AATCGGCCCACTAGTAGCATA	0.348								Other conserved DNA damage response genes																													p.V2006L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6016T	3						.						104.0	101.0	102.0					3																	142212036		2203	4300	6503	143694726	SO:0001583	missense	545	exon35			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.6016G>T	3.37:g.142212036C>A	ENSP00000343741:p.Val2006Leu	Somatic		Capture	SOLID	Phase_I	143694726	NM_001184	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.788633	0.49997	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.63913	-0.07;-0.07	5.49	5.49	0.81192	PIK-related kinase (1);PIK-related kinase, FAT (1);	0.000000	0.85682	D	0.000000	T	0.58119	0.2100	L	0.37897	1.145	0.80722	D	1	P	0.48162	0.906	P	0.48654	0.585	T	0.54596	-0.8270	10	0.02654	T	1	-16.8603	19.375	0.94505	0.0:1.0:0.0:0.0	.	2006	Q13535	ATR_HUMAN	L	2006;1942	ENSP00000343741:V2006L;ENSP00000372581:V1942L	ENSP00000343741:V2006L	V	-	1	0	ATR	143694726	1.000000	0.71417	0.995000	0.50966	0.944000	0.59088	4.736000	0.62059	2.585000	0.87301	0.650000	0.86243	GTG		0.348	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184	
MED12L	116931	hgsc.bcm.edu	37	3	150903145	150903145	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr3:150903145C>T	ENST00000474524.1	+	11	1561	c.1523C>T	c.(1522-1524)aCg>aTg	p.T508M	MED12L_ENST00000422248.2_Missense_Mutation_p.T508M|MED12L_ENST00000273432.4_Missense_Mutation_p.T368M|MED12L_ENST00000309237.4_Missense_Mutation_p.T508M|RNA5SP145_ENST00000363124.1_RNA	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	508						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.T508M(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCTGTGGTGACGCTGTTATGT	0.537																																					p.T508M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1523T	3						.						130.0	106.0	114.0					3																	150903145		2203	4300	6503	152385835	SO:0001583	missense	116931	exon11			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1523C>T	3.37:g.150903145C>T	ENSP00000417235:p.Thr508Met	Somatic		Capture	SOLID	Phase_I	152385835	NM_053002	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.675368	0.29783	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524;ENST00000273432	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	5.51	5.51	0.81932	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.053634	0.85682	D	0.000000	T	0.21631	0.0521	L	0.32530	0.975	0.45366	D	0.998356	B;B;P;P	0.42078	0.405;0.359;0.77;0.652	B;B;B;B	0.32211	0.058;0.142;0.124;0.048	T	0.03795	-1.1003	10	0.54805	T	0.06	-14.3066	13.6976	0.62589	0.0:0.924:0.0:0.076	.	368;508;508;508	F8WAE6;Q86YW9;Q86YW9-2;Q86YW9-3	.;MD12L_HUMAN;.;.	M	508;508;508;368	ENSP00000403308:T508M;ENSP00000310760:T508M;ENSP00000417235:T508M;ENSP00000273432:T368M	ENSP00000273432:T368M	T	+	2	0	MED12L	152385835	0.958000	0.32768	0.952000	0.39060	0.038000	0.13279	2.203000	0.42752	2.589000	0.87451	0.591000	0.81541	ACG		0.537	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002	
MBNL1	4154	hgsc.bcm.edu	37	3	152163093	152163093	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr3:152163093G>A	ENST00000463374.1	+	4	1083	c.572G>A	c.(571-573)gGc>gAc	p.G191D	MBNL1_ENST00000492948.1_Missense_Mutation_p.G191D|MBNL1_ENST00000324210.5_Missense_Mutation_p.G191D|MBNL1_ENST00000545754.1_Missense_Mutation_p.G123D|MBNL1_ENST00000498502.1_Missense_Mutation_p.G191D|MBNL1_ENST00000493459.1_Missense_Mutation_p.G134D|MBNL1_ENST00000282486.6_Missense_Mutation_p.G191D|MBNL1_ENST00000324196.5_Missense_Mutation_p.G191D|MBNL1_ENST00000485910.1_Missense_Mutation_p.G123D|MBNL1_ENST00000355460.2_Missense_Mutation_p.G191D|MBNL1_ENST00000282488.7_Missense_Mutation_p.G123D|MBNL1_ENST00000485509.1_Missense_Mutation_p.G191D|MBNL1_ENST00000357472.3_Missense_Mutation_p.G191D	NM_207293.1	NP_997176.1	Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	191					alternative mRNA splicing, via spliceosome (GO:0000380)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|mRNA splice site selection (GO:0006376)|myoblast differentiation (GO:0045445)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|skeletal muscle tissue development (GO:0007519)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.G123D(1)|p.G191D(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TACCAACGTGGCAATTGCAAC	0.408																																					p.G191D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G572A	3						.						120.0	96.0	104.0					3																	152163093		2203	4300	6503	153645783	SO:0001583	missense	4154	exon4			Y13829	CCDS3163.1, CCDS3164.1, CCDS3165.1, CCDS3166.1, CCDS3167.1, CCDS3168.1, CCDS54656.1	3q25	2013-01-18	2012-02-23	2003-03-14	ENSG00000152601	ENSG00000152601		"""Zinc fingers, CCCH-type domain containing"""	6923	protein-coding gene	gene with protein product		606516	"""muscleblind (Drosophila)-like"", ""muscleblind-like (Drosophila)"""	MBNL			Standard	NM_021038		Approved	KIAA0428, EXP42, EXP40, EXP35, EXP	uc003ezm.3	Q9NR56	OTTHUMG00000159163	ENST00000463374.1:c.572G>A	3.37:g.152163093G>A	ENSP00000418108:p.Gly191Asp	Somatic		Capture	SOLID	Phase_I	153645783	NM_207293	E9PBW7|O43311|O43797|Q86UV8|Q86UV9|Q96P92|Q96RE3	Missense_Mutation	SNP	ENST00000463374.1	37	CCDS3165.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.292617|5.292617	0.95546|0.95546	.|.	.|.	ENSG00000152601|ENSG00000152601	ENST00000464596|ENST00000282486;ENST00000282488;ENST00000355460;ENST00000493459;ENST00000324210;ENST00000460591;ENST00000498502;ENST00000324196;ENST00000545754;ENST00000357472;ENST00000485910;ENST00000463374;ENST00000465907;ENST00000492948;ENST00000485509;ENST00000478535	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.76709	.|-1.04;0.9;-1.04;-1.04;-1.04;0.01;-1.04;-1.04;0.9;-1.04;0.9;-1.04;0.9;-1.04;-1.04;0.01	5.32|5.32	5.32|5.32	0.75619|0.75619	.|Zinc finger, CCCH-type (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.90024|0.90024	0.6885|0.6885	M|M	0.87827|0.87827	2.91|2.91	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.996;1.0	.|D;D;D;D;D;D;D;D;D	.|0.97110	.|0.995;0.996;1.0;0.998;0.995;0.997;0.997;0.976;0.991	D|D	0.91572|0.91572	0.5272|0.5272	5|10	.|0.87932	.|D	.|0	-8.3299|-8.3299	19.0161|19.0161	0.92896|0.92896	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|191;191;123;123;191;191;134;191;191	.|C9JP00;E9PBW7;Q9NR56-3;Q96RE3;Q9NR56;Q86UV8;Q86VM6;Q9NR56-2;Q96P92	.|.;.;.;.;MBNL1_HUMAN;.;.;.;.	T|D	190|191;123;191;134;191;99;191;191;123;191;123;191;123;191;191;94	.|ENSP00000282486:G191D;ENSP00000282488:G123D;ENSP00000347637:G191D;ENSP00000419347:G134D;ENSP00000319429:G191D;ENSP00000420680:G99D;ENSP00000420327:G191D;ENSP00000319374:G191D;ENSP00000437491:G123D;ENSP00000350064:G191D;ENSP00000418427:G123D;ENSP00000418108:G191D;ENSP00000417630:G123D;ENSP00000420103:G191D;ENSP00000418876:G191D;ENSP00000418508:G94D	.|ENSP00000282486:G191D	A|G	+|+	1|2	0|0	MBNL1|MBNL1	153645783|153645783	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.731000|9.731000	0.98807|0.98807	2.486000|2.486000	0.83907|0.83907	0.591000|0.591000	0.81541|0.81541	GCA|GGC		0.408	MBNL1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353604.1	NM_021038	
PTX3	5806	hgsc.bcm.edu	37	3	157160572	157160572	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr3:157160572G>T	ENST00000295927.3	+	3	1095	c.950G>T	c.(949-951)tGc>tTc	p.C317F	VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000362010.2_Intron	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	pentraxin 3, long	317	Pentaxin.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of exo-alpha-sialidase activity (GO:1903016)|negative regulation of glycoprotein metabolic process (GO:1903019)|negative regulation of viral entry into host cell (GO:0046597)|opsonization (GO:0008228)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phagocytosis (GO:0050766)|response to yeast (GO:0001878)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	(1->3)-beta-D-glucan binding (GO:0001872)|complement component C1q binding (GO:0001849)|virion binding (GO:0046790)	p.C317F(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			AAGAATGGCTGCTGTGTGGGT	0.483																																					p.C317F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G950T	3						.						119.0	116.0	117.0					3																	157160572		2203	4300	6503	158643266	SO:0001583	missense	5806	exon3			X63613	CCDS3180.1	3q25	2010-03-11	2010-03-11		ENSG00000163661	ENSG00000163661			9692	protein-coding gene	gene with protein product		602492	"""pentaxin-related gene, rapidly induced by IL-1 beta"", ""tumor necrosis factor, alpha-induced protein 5"", ""pentraxin-related gene, rapidly induced by IL-1 beta"""	TNFAIP5		1429570	Standard	NM_002852		Approved	TSG-14	uc003fbl.4	P26022	OTTHUMG00000158750	ENST00000295927.3:c.950G>T	3.37:g.157160572G>T	ENSP00000295927:p.Cys317Phe	Somatic		Capture	SOLID	Phase_I	158643266	NM_002852	B2R6T6|Q38M82	Missense_Mutation	SNP	ENST00000295927.3	37	CCDS3180.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.857980	0.71834	.	.	ENSG00000163661	ENST00000295927	T	0.08458	3.09	5.71	5.71	0.89125	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.189379	0.47455	D	0.000228	T	0.29389	0.0732	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.00269	-1.1861	10	0.72032	D	0.01	-14.4367	19.8579	0.96771	0.0:0.0:1.0:0.0	.	317	P26022	PTX3_HUMAN	F	317	ENSP00000295927:C317F	ENSP00000295927:C317F	C	+	2	0	PTX3	158643266	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.986000	0.93492	2.687000	0.91594	0.655000	0.94253	TGC		0.483	PTX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352028.1	NM_002852	
XYLB	9942	hgsc.bcm.edu	37	3	38438605	38438605	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr3:38438605A>G	ENST00000207870.3	+	17	1483	c.1393A>G	c.(1393-1395)Act>Gct	p.T465A	XYLB_ENST00000542835.1_Missense_Mutation_p.T328A|XYLB_ENST00000472721.1_3'UTR	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	465					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|D-xylose metabolic process (GO:0042732)|generation of precursor metabolites and energy (GO:0006091)|xylulose catabolic process (GO:0005998)|xylulose metabolic process (GO:0005997)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|xylulokinase activity (GO:0004856)	p.T465A(1)		endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		TGTTATAGACACTGCCAACTC	0.527																																					p.T465A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1393G	3						.						206.0	182.0	190.0					3																	38438605		2203	4300	6503	38413609	SO:0001583	missense	9942	exon17			AB015046	CCDS2678.1	3p22-p21.3	2006-12-18	2001-12-04		ENSG00000093217	ENSG00000093217			12839	protein-coding gene	gene with protein product		604049	"""xylulokinase (H. influenzae) homolog"""			9763671	Standard	NM_005108		Approved	FLJ10343, FLJ12539	uc003cic.2	O75191	OTTHUMG00000131294	ENST00000207870.3:c.1393A>G	3.37:g.38438605A>G	ENSP00000207870:p.Thr465Ala	Somatic		Capture	SOLID	Phase_I	38413609	NM_005108	B2RAW4|B4DDT2|B9EH64	Missense_Mutation	SNP	ENST00000207870.3	37	CCDS2678.1	.	.	.	.	.	.	.	.	.	.	A	9.765	1.171164	0.21621	.	.	ENSG00000093217	ENST00000207870;ENST00000542835	D;D	0.85556	-2.0;-2.0	5.27	5.27	0.74061	Carbohydrate kinase, FGGY, C-terminal (1);	0.301633	0.31797	N	0.007051	T	0.77824	0.4188	L	0.45581	1.43	0.38929	D	0.957901	B;B	0.24186	0.099;0.05	B;B	0.25140	0.058;0.058	T	0.70691	-0.4802	10	0.06757	T	0.87	.	11.5117	0.50496	1.0:0.0:0.0:0.0	.	328;465	B4DDT2;O75191	.;XYLB_HUMAN	A	465;328	ENSP00000207870:T465A;ENSP00000443659:T328A	ENSP00000207870:T465A	T	+	1	0	XYLB	38413609	1.000000	0.71417	0.998000	0.56505	0.838000	0.47535	3.709000	0.54853	2.216000	0.71823	0.482000	0.46254	ACT		0.527	XYLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254062.2	NM_005108	
ACKR2	1238	hgsc.bcm.edu	37	3	42906145	42906145	+	Missense_Mutation	SNP	G	G	T	rs574627315		TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr3:42906145G>T	ENST00000422265.1	+	3	326	c.151G>T	c.(151-153)Gtc>Ttc	p.V51F	RP11-141M3.5_ENST00000471537.1_RNA|ACKR2_ENST00000442925.1_Missense_Mutation_p.V51F|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000273145.2_Missense_Mutation_p.V51F	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2	51					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)|neutrophil activation (GO:0042119)|receptor-mediated endocytosis (GO:0006898)	actin filament (GO:0005884)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-X-C chemokine receptor activity (GO:0016494)|chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)	p.V51F(1)									CTTCCTCCCAGTCTTCTATAG	0.502																																					p.V51F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G151T	3						.						189.0	160.0	170.0					3																	42906145		2203	4300	6503	42881149	SO:0001583	missense	1238	exon3			U94888	CCDS2706.1	3p21.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144648	ENSG00000144648		"""GPCR / Class A : Chemokine receptors : Atypical"""	1565	protein-coding gene	gene with protein product		602648	"""chemokine binding protein 2"""	CMKBR9, CCBP2		9364936, 9405404, 16148	Standard	NM_001296		Approved	CCR10, D6, CCR9	uc003cme.3	O00590	OTTHUMG00000133040	ENST00000422265.1:c.151G>T	3.37:g.42906145G>T	ENSP00000416996:p.Val51Phe	Somatic		Capture	SOLID	Phase_I	42881149	NM_001296	B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Missense_Mutation	SNP	ENST00000422265.1	37	CCDS2706.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.963040	0.34659	.	.	ENSG00000144648	ENST00000442925;ENST00000422265;ENST00000273145	T;T;T	0.39997	1.05;1.05;1.05	5.52	-4.65	0.03339	.	0.481828	0.17150	N	0.185082	T	0.33294	0.0858	M	0.70842	2.15	0.09310	N	0.999999	P;P	0.46706	0.79;0.883	B;B	0.39876	0.312;0.312	T	0.26883	-1.0090	9	.	.	.	.	7.6954	0.28592	0.5158:0.2045:0.2797:0.0	.	51;51	O00590;Q7Z7I1	CCBP2_HUMAN;.	F	51	ENSP00000396150:V51F;ENSP00000416996:V51F;ENSP00000273145:V51F	.	V	+	1	0	CCBP2	42881149	0.000000	0.05858	0.006000	0.13384	0.717000	0.41224	-1.348000	0.02629	-0.812000	0.04363	0.563000	0.77884	GTC		0.502	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256645.2	NM_001296	
SETD2	29072	hgsc.bcm.edu	37	3	47143015	47143015	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr3:47143015A>C	ENST00000409792.3	-	8	4990	c.4948T>G	c.(4948-4950)Ttt>Gtt	p.F1650V		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1650	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.F1650V(1)|p.F1147V(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GTGGTAAAAAACCCAACCCTC	0.393			"""N, F, S, Mis"""		clear cell renal carcinoma																																p.F1650V			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T4948G	3						.						153.0	152.0	153.0					3																	47143015		2203	4300	6503	47118019	SO:0001583	missense	29072	exon8			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4948T>G	3.37:g.47143015A>C	ENSP00000386759:p.Phe1650Val	Somatic		Capture	SOLID	Phase_I	47118019	NM_014159	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	A	29.7	5.026371	0.93518	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	D	0.81579	-1.51	5.94	5.94	0.96194	SET domain (3);	0.000000	0.56097	D	0.000038	D	0.89822	0.6826	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.90824	0.4711	10	0.72032	D	0.01	.	16.4075	0.83691	1.0:0.0:0.0:0.0	.	1650;1650	F2Z317;Q9BYW2	.;SETD2_HUMAN	V	1650	ENSP00000386759:F1650V	ENSP00000386759:F1650V	F	-	1	0	SETD2	47118019	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	9.238000	0.95380	2.275000	0.75901	0.528000	0.53228	TTT		0.393	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159	
MAGI1	9223	hgsc.bcm.edu	37	3	65372862	65372862	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr3:65372862T>A	ENST00000330909.8	-	15	2455	c.2456A>T	c.(2455-2457)gAg>gTg	p.E819V	MAGI1_ENST00000402939.2_Intron|MAGI1_ENST00000483466.1_Missense_Mutation_p.E819V|MAGI1_ENST00000497477.2_Intron	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	819	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)	p.E819V(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TCTCTCTCTCTCACCCTTGCT	0.388																																					p.E819V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2456T	3						.						120.0	119.0	119.0					3																	65372862		2203	4300	6503	65347902	SO:0001583	missense	9223	exon15			AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000330909.8:c.2456A>T	3.37:g.65372862T>A	ENSP00000331157:p.Glu819Val	Somatic		Capture	SOLID	Phase_I	65347902	NM_015520	A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000330909.8	37	CCDS33781.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.24|14.24	2.475334|2.475334	0.43942|0.43942	.|.	.|.	ENSG00000151276|ENSG00000151276	ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466|ENST00000460329	T;T;T|.	0.17528|.	2.27;2.27;2.27|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	.|.	.|.	.|.	.|.	T|.	0.47948|.	0.1473|.	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	B;D;B|.	0.61080|.	0.113;0.989;0.005|.	B;D;B|.	0.75020|.	0.013;0.985;0.022|.	T|.	0.45556|.	-0.9253|.	9|.	0.26408|.	T|.	0.33|.	.|.	14.6668|14.6668	0.68915|0.68915	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	819;819;819|.	A8K188;Q96QZ7-3;Q96QZ7-5|.	.;.;.|.	V|X	819;715;694;819|700	ENSP00000331157:E819V;ENSP00000418177:E694V;ENSP00000420323:E819V|.	ENSP00000331157:E819V|.	E|R	-|-	2|1	0|2	MAGI1|MAGI1	65347902|65347902	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	4.860000|4.860000	0.62961|0.62961	2.199000|2.199000	0.70637|0.70637	0.533000|0.533000	0.62120|0.62120	GAG|AGA		0.388	MAGI1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000349127.2	NM_004742	
FOXP1	27086	hgsc.bcm.edu	37	3	71021818	71021818	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr3:71021818G>A	ENST00000318789.4	-	18	2065	c.1540C>T	c.(1540-1542)Cgt>Tgt	p.R514C	FOXP1_ENST00000493089.1_Missense_Mutation_p.R513C|FOXP1_ENST00000475937.1_Missense_Mutation_p.R514C|FOXP1_ENST00000468577.1_Intron|FOXP1_ENST00000484350.1_Missense_Mutation_p.R438C|FOXP1_ENST00000498215.1_Missense_Mutation_p.R514C|FOXP1_ENST00000491238.1_Missense_Mutation_p.R516C	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	514					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R514C(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		AGATTATGACGCACTGCATTC	0.383			T	PAX5	ALL																																p.R514C			Dom	yes		3	3p14.1	27086	forkhead box P1		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1540T	3						.						440.0	357.0	385.0					3																	71021818		2203	4300	6503	71104508	SO:0001583	missense	27086	exon18			AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.1540C>T	3.37:g.71021818G>A	ENSP00000318902:p.Arg514Cys	Somatic		Capture	SOLID	Phase_I	71104508	NM_032682	A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Missense_Mutation	SNP	ENST00000318789.4	37	CCDS2914.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.140933	0.77775	.	.	ENSG00000114861	ENST00000318789;ENST00000358280;ENST00000475937;ENST00000497355;ENST00000491238;ENST00000493089;ENST00000498215;ENST00000484350	D;D;D;D;D;D;D	0.98120	-4.73;-4.73;-4.73;-4.73;-4.73;-4.73;-4.73	5.81	5.81	0.92471	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);Transcription factor, fork head, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99474	0.9813	H	0.99634	4.67	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.996;1.0;0.999	D	0.97889	1.0296	10	0.87932	D	0	.	20.4375	0.99097	0.0:0.0:1.0:0.0	.	513;513;438;514	B3KV70;G5E9V8;Q8NAN6;Q9H334	.;.;.;FOXP1_HUMAN	C	514;326;514;410;516;513;514;438	ENSP00000318902:R514C;ENSP00000419393:R514C;ENSP00000418225:R410C;ENSP00000420736:R516C;ENSP00000418524:R513C;ENSP00000418102:R514C;ENSP00000417857:R438C	ENSP00000318902:R514C	R	-	1	0	FOXP1	71104508	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.906000	0.99361	0.655000	0.94253	CGT		0.383	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682	
MECOM	2122	hgsc.bcm.edu	37	3	168849256	168849256	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr3:168849256C>T	ENST00000464456.1	-	3	1210	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K	MECOM_ENST00000468789.1_Missense_Mutation_p.E4K|MECOM_ENST00000264674.3_Missense_Mutation_p.E68K|MECOM_ENST00000494292.1_Missense_Mutation_p.E192K|MECOM_ENST00000460814.1_Missense_Mutation_p.E4K|MECOM_ENST00000472280.1_Missense_Mutation_p.E4K|MECOM_ENST00000392736.3_Missense_Mutation_p.E4K|MECOM_ENST00000433243.2_Missense_Mutation_p.E4K	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E4K(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GGATAGTCTTCGCTCTTCATG	0.458																																					p.E68K												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G202A	3						.						163.0	105.0	125.0					3																	168849256		2203	4300	6503	170331950	SO:0001583	missense	2122	exon4			S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.10G>A	3.37:g.168849256C>T	ENSP00000419770:p.Glu4Lys	Somatic		Capture	SOLID	Phase_I	170331950	NM_001105077	Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318597	0.81469	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243;ENST00000484519;ENST00000460890;ENST00000487503;ENST00000494597;ENST00000475754;ENST00000481315;ENST00000466623	T;T;T;T;T;T;T;T;T;T;T;T;T	0.36699	2.92;3.38;3.34;3.49;2.92;3.38;3.34;3.49;5.0;5.88;5.88;5.88;1.24	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000018	T	0.42988	0.1227	N	0.08118	0	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.80764	0.994;0.994;0.986;0.971;0.986	T	0.53760	-0.8393	10	0.52906	T	0.07	-14.9094	19.5021	0.95100	0.0:1.0:0.0:0.0	.	192;4;192;68;4	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	K	68;4;4;4;192;4;4;4;4;4;4;4;4;4;4	ENSP00000264674:E68K;ENSP00000376493:E4K;ENSP00000419770:E4K;ENSP00000420048:E4K;ENSP00000417899:E192K;ENSP00000419995:E4K;ENSP00000420466:E4K;ENSP00000394302:E4K;ENSP00000417299:E4K;ENSP00000417922:E4K;ENSP00000419757:E4K;ENSP00000420072:E4K;ENSP00000418828:E4K	ENSP00000264674:E68K	E	-	1	0	MECOM	170331950	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	7.487000	0.81328	2.605000	0.88082	0.555000	0.69702	GAA		0.458	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991	
TMEM52B	120939	hgsc.bcm.edu	37	12	10339037	10339037	+	Silent	SNP	C	C	T	rs372597210		TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr12:10339037C>T	ENST00000381923.2	+	5	560	c.156C>T	c.(154-156)ggC>ggT	p.G52G	TMEM52B_ENST00000298530.3_Silent_p.G32G|TMEM52B_ENST00000536952.1_Silent_p.G52G			Q4KMG9	TM52B_HUMAN	transmembrane protein 52B	52						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.G32G(1)									TGGTAATTGGCGCGCTGCTTC	0.582																																					p.G32G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C96T	12						.	C		0,4406		0,0,2203	106.0	89.0	94.0		96	-10.9	0.0	12		94	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C12orf59	NM_153022.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		32/164	10339037	1,13005	2203	4300	6503	10230304	SO:0001819	synonymous_variant	120939	exon3			AY358845	CCDS8619.1, CCDS66314.1	12p13.2	2012-08-15	2012-08-15	2012-08-15	ENSG00000165685	ENSG00000165685			26438	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 59"""	C12orf59		12975309	Standard	XM_005253299		Approved	FLJ31166	uc001qxq.3	Q4KMG9	OTTHUMG00000168410	ENST00000381923.2:c.156C>T	12.37:g.10339037C>T		Somatic		Capture	SOLID	Phase_I	10230304	NM_153022	Q96NA7	Silent	SNP	ENST00000381923.2	37																																																																																					0.582	TMEM52B-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000399645.1	NM_153022	
APPL2	55198	hgsc.bcm.edu	37	12	105583847	105583847	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr12:105583847A>G	ENST00000258530.3	-	15	1553	c.1328T>C	c.(1327-1329)cTg>cCg	p.L443P	APPL2_ENST00000551662.1_Missense_Mutation_p.L449P|APPL2_ENST00000539978.2_Missense_Mutation_p.L400P	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)	p.L443P(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						AGGCGCGATCAGCTCCTCTGC	0.463																																					p.L443P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1328C	12						.						127.0	119.0	122.0					12																	105583847		2203	4300	6503	104107977	SO:0001583	missense	55198	exon15			AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"""Pleckstrin homology (PH) domain containing"""	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.1328T>C	12.37:g.105583847A>G	ENSP00000258530:p.Leu443Pro	Somatic		Capture	SOLID	Phase_I	104107977	NM_018171	B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000258530.3	37	CCDS9101.1	.	.	.	.	.	.	.	.	.	.	A	15.84	2.952972	0.53293	.	.	ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000551662	T;T;T	0.32515	2.26;1.45;2.03	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.36936	0.0985	M	0.71036	2.16	0.80722	D	1	B;B;B	0.19445	0.036;0.021;0.008	B;B;B	0.17433	0.004;0.018;0.001	T	0.15464	-1.0436	10	0.51188	T	0.08	-16.1729	15.9051	0.79423	1.0:0.0:0.0:0.0	.	449;400;443	F8W1P5;B7Z1Q8;Q8NEU8	.;.;DP13B_HUMAN	P	443;400;449	ENSP00000258530:L443P;ENSP00000444472:L400P;ENSP00000446917:L449P	ENSP00000258530:L443P	L	-	2	0	APPL2	104107977	1.000000	0.71417	0.268000	0.24571	0.069000	0.16628	9.078000	0.94023	2.151000	0.67156	0.456000	0.33151	CTG		0.463	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406238.3	NM_018171	
PWP1	11137	hgsc.bcm.edu	37	12	108082511	108082511	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr12:108082511A>G	ENST00000412830.3	+	3	419	c.251A>G	c.(250-252)gAc>gGc	p.D84G	PWP1_ENST00000541166.1_Missense_Mutation_p.D22G	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	84					transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.D84G(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						CCAGAGGATGACAGGACGCTT	0.507																																					p.D84G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A251G	12						.						147.0	135.0	139.0					12																	108082511		2203	4300	6503	106606641	SO:0001583	missense	11137	exon3			BC000067	CCDS9114.1	12q23.3	2013-06-10				ENSG00000136045		"""WD repeat domain containing"""	17015	protein-coding gene	gene with protein product	"""endonuclein"""					7828893, 11850830	Standard	NM_007062		Approved	IEF-SSP-9502	uc001tmo.1	Q13610	OTTHUMG00000169913	ENST00000412830.3:c.251A>G	12.37:g.108082511A>G	ENSP00000387365:p.Asp84Gly	Somatic		Capture	SOLID	Phase_I	106606641	NM_007062	A8K3R6|Q7Z3X9	Missense_Mutation	SNP	ENST00000412830.3	37	CCDS9114.1	.	.	.	.	.	.	.	.	.	.	.	9.923	1.212685	0.22289	.	.	ENSG00000136045	ENST00000412830;ENST00000547995;ENST00000258531;ENST00000546068;ENST00000538327;ENST00000541166	T;T	0.73152	-0.54;-0.72	5.5	4.35	0.52113	.	0.397729	0.29799	N	0.011173	T	0.56717	0.2004	L	0.40543	1.245	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.41197	-0.9522	10	0.23302	T	0.38	.	7.1044	0.25356	0.7731:0.1482:0.0787:0.0	.	84	Q13610	PWP1_HUMAN	G	84;22;84;84;84;22	ENSP00000387365:D84G;ENSP00000445249:D22G	ENSP00000258531:D84G	D	+	2	0	PWP1	106606641	0.990000	0.36364	0.391000	0.26233	0.784000	0.44337	3.504000	0.53347	1.029000	0.39812	0.472000	0.43445	GAC		0.507	PWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406539.1	NM_007062	
ERC1	23085	hgsc.bcm.edu	37	12	1219382	1219382	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr12:1219382C>T	ENST00000397203.2	+	5	1592	c.1186C>T	c.(1186-1188)Cgt>Tgt	p.R396C	ERC1_ENST00000589028.1_Missense_Mutation_p.R396C|ERC1_ENST00000543086.3_Missense_Mutation_p.R396C|ERC1_ENST00000360905.4_Missense_Mutation_p.R396C|ERC1_ENST00000546231.2_Missense_Mutation_p.R396C|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000355446.5_Missense_Mutation_p.R396C			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	396					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)	p.R396C(1)		NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			CTCTATGGAGCGTGGGCTTCG	0.378																																					p.R396C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1186T	12						.						71.0	73.0	72.0					12																	1219382		2203	4300	6503	1089643	SO:0001583	missense	23085	exon5			AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.1186C>T	12.37:g.1219382C>T	ENSP00000380386:p.Arg396Cys	Somatic		Capture	SOLID	Phase_I	1089643	NM_178039	A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	ENST00000397203.2	37	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.074648	0.76415	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000543086;ENST00000542302;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971;ENST00000536573	T;T;T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.70640	0.3247	M	0.68593	2.085	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.83275	0.947;0.992;0.955;0.969;0.996	T	0.72243	-0.4350	10	0.72032	D	0.01	-9.5948	14.8612	0.70382	0.1436:0.8564:0.0:0.0	.	172;33;396;396;396	F5H327;F5GZU8;Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;.;.;RB6I2_HUMAN	C	396;396;396;396;396;396;396;396;396;396;172;33	ENSP00000340054:R396C;ENSP00000380386:R396C;ENSP00000438546:R396C;ENSP00000445336:R396C;ENSP00000442739:R396C;ENSP00000347621:R396C;ENSP00000354158:R396C;ENSP00000410064:R396C	ENSP00000340054:R396C	R	+	1	0	ERC1	1089643	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.025000	0.49681	2.751000	0.94390	0.585000	0.79938	CGT		0.378	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064	
ACACB	32	hgsc.bcm.edu	37	12	109698378	109698378	+	Missense_Mutation	SNP	C	C	T	rs143111072		TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr12:109698378C>T	ENST00000338432.7	+	48	6709	c.6590C>T	c.(6589-6591)gCg>gTg	p.A2197V	ACACB_ENST00000377854.5_Missense_Mutation_p.A2127V|ACACB_ENST00000543201.1_3'UTR|ACACB_ENST00000377848.3_Missense_Mutation_p.A2197V			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2197	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.A2197V(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	CCGCCCTATGCGGAGCTCCGG	0.527																																					p.A2197V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6590T	12						.	C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	154.0	155.0	154.0		6590	4.2	0.1	12	dbSNP_134	154	1,8599	1.2+/-3.3	0,1,4299	no	missense	ACACB	NM_001093.3	64	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	2197/2459	109698378	2,13004	2203	4300	6503	108182761	SO:0001583	missense	32	exon47			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.6590C>T	12.37:g.109698378C>T	ENSP00000341044:p.Ala2197Val	Somatic		Capture	SOLID	Phase_I	108182761	NM_001093	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.638519	0.87760	2.27E-4	1.16E-4	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027	T;T;T	0.31247	1.5;1.5;1.5	5.09	4.19	0.49359	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.049386	0.85682	D	0.000000	T	0.56819	0.2011	M	0.86651	2.83	0.80722	D	1	D	0.76494	0.999	P	0.59357	0.856	T	0.68372	-0.5426	10	0.87932	D	0	.	15.533	0.75980	0.0:0.7388:0.2612:0.0	.	2197	O00763	ACACB_HUMAN	V	2197;2197;2127;1428	ENSP00000341044:A2197V;ENSP00000367079:A2197V;ENSP00000367085:A2127V	ENSP00000341044:A2197V	A	+	2	0	ACACB	108182761	0.995000	0.38212	0.092000	0.20876	0.858000	0.48976	3.267000	0.51577	1.462000	0.47948	0.655000	0.94253	GCG		0.527	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093	
SCNN1A	6337	hgsc.bcm.edu	37	12	6464981	6464981	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr12:6464981G>T	ENST00000228916.2	-	5	1039	c.941C>A	c.(940-942)tCc>tAc	p.S314Y	SCNN1A_ENST00000543768.1_Missense_Mutation_p.S337Y|SCNN1A_ENST00000360168.3_Missense_Mutation_p.S373Y|SCNN1A_ENST00000396966.2_Missense_Mutation_p.S314Y|SCNN1A_ENST00000540037.1_Missense_Mutation_p.S14Y|SCNN1A_ENST00000358945.3_Missense_Mutation_p.S314Y|SCNN1A_ENST00000538979.1_5'UTR	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	314					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)	p.S314Y(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	CCAGAGGTTGGAGTTGTTCTT	0.488																																					p.S373Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1118A	12						.						260.0	232.0	242.0					12																	6464981		2203	4300	6503	6335242	SO:0001583	missense	6337	exon4			Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10599	protein-coding gene	gene with protein product		600228	"""sodium channel, nonvoltage-gated 1 alpha"", ""sodium channel, non-voltage-gated 1 alpha"""	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.941C>A	12.37:g.6464981G>T	ENSP00000228916:p.Ser314Tyr	Somatic		Capture	SOLID	Phase_I	6335242	NM_001159576	A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Missense_Mutation	SNP	ENST00000228916.2	37	CCDS8543.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676336	0.67928	.	.	ENSG00000111319	ENST00000360168;ENST00000358945;ENST00000540037;ENST00000228916;ENST00000396966;ENST00000543768	T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	4.64	4.64	0.57946	.	0.199101	0.35555	N	0.003129	T	0.75481	0.3855	M	0.81682	2.555	0.39258	D	0.964164	D;D;P	0.58970	0.984;0.984;0.925	P;P;P	0.60173	0.87;0.87;0.795	T	0.80402	-0.1397	10	0.72032	D	0.01	-39.7225	11.3288	0.49465	0.0:0.1841:0.8159:0.0	.	337;314;373	B4E2Q5;P37088;P37088-2	.;SCNNA_HUMAN;.	Y	373;314;14;314;314;337	ENSP00000353292:S373Y;ENSP00000351825:S314Y;ENSP00000440876:S14Y;ENSP00000228916:S314Y;ENSP00000380166:S314Y;ENSP00000438739:S337Y	ENSP00000228916:S314Y	S	-	2	0	SCNN1A	6335242	1.000000	0.71417	0.974000	0.42286	0.896000	0.52359	3.842000	0.55858	2.306000	0.77630	0.561000	0.74099	TCC		0.488	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399055.1		
CD163	9332	hgsc.bcm.edu	37	12	7640635	7640635	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr12:7640635C>T	ENST00000359156.4	-	7	1671	c.1469G>A	c.(1468-1470)cGt>cAt	p.R490H	CD163_ENST00000396620.3_Missense_Mutation_p.R490H|CD163_ENST00000541972.1_Missense_Mutation_p.R478H|CD163_ENST00000432237.2_Missense_Mutation_p.R490H|CD163_ENST00000539632.1_5'Flank	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	490	SRCR 5. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.R490H(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	CACTTCAACACGTCCAGAACA	0.478																																					p.R490H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1469A	12						.						61.0	52.0	55.0					12																	7640635		2203	4300	6503	7531902	SO:0001583	missense	9332	exon7			Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.1469G>A	12.37:g.7640635C>T	ENSP00000352071:p.Arg490His	Somatic		Capture	SOLID	Phase_I	7531902	NM_203416	C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.967874	0.92855	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.36340	1.26;1.26;1.26;1.26	5.33	5.33	0.75918	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.283835	0.30302	N	0.009934	T	0.64516	0.2605	M	0.82433	2.59	0.49687	D	0.999815	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.995;0.999;0.993	T	0.69250	-0.5194	10	0.87932	D	0	.	16.8765	0.86053	0.0:1.0:0.0:0.0	.	490;490;490	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	H	490;478;490;490	ENSP00000352071:R490H;ENSP00000444071:R478H;ENSP00000379863:R490H;ENSP00000403885:R490H	ENSP00000352071:R490H	R	-	2	0	CD163	7531902	0.616000	0.27035	1.000000	0.80357	0.979000	0.70002	3.317000	0.51968	2.663000	0.90544	0.655000	0.94253	CGT		0.478	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416	
PTPRO	5800	hgsc.bcm.edu	37	12	15742431	15742431	+	Silent	SNP	G	G	A			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr12:15742431G>A	ENST00000281171.4	+	25	3783	c.3453G>A	c.(3451-3453)agG>agA	p.R1151R	PTPRO_ENST00000544244.1_Silent_p.R312R|PTPRO_ENST00000445537.2_Silent_p.R340R|PTPRO_ENST00000348962.2_Silent_p.R1123R|PTPRO_ENST00000442921.2_Silent_p.R340R|PTPRO_ENST00000542557.1_Silent_p.R312R	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1151	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)	p.R1151R(1)		NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CCCTGGACAGGCTCTTGCAGC	0.478																																					p.R1123R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3369A	12						.						208.0	187.0	194.0					12																	15742431		2203	4300	6503	15633698	SO:0001819	synonymous_variant	5800	exon24			U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.3453G>A	12.37:g.15742431G>A		Somatic		Capture	SOLID	Phase_I	15633698	NM_002848	A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Silent	SNP	ENST00000281171.4	37	CCDS8675.1																																																																																				0.478	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1		
C2CD5	9847	hgsc.bcm.edu	37	12	22635624	22635624	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr12:22635624C>T	ENST00000333957.4	-	14	1859	c.1604G>A	c.(1603-1605)aGt>aAt	p.S535N	C2CD5_ENST00000542676.1_Missense_Mutation_p.S535N|C2CD5_ENST00000446597.1_Missense_Mutation_p.S535N|C2CD5_ENST00000396028.2_Missense_Mutation_p.S526N|C2CD5_ENST00000545552.1_Missense_Mutation_p.S548N|C2CD5_ENST00000544930.1_Missense_Mutation_p.S350N|C2CD5_ENST00000536386.1_Missense_Mutation_p.S537N	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	535					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)	p.S535N(1)									CAAGAGATTACTGATAGCTGT	0.353																																					p.S535N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1604A	12						.						177.0	168.0	171.0					12																	22635624		2202	4300	6502	22526891	SO:0001583	missense	9847	exon14			AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.1604G>A	12.37:g.22635624C>T	ENSP00000334229:p.Ser535Asn	Somatic		Capture	SOLID	Phase_I	22526891	NM_014802	B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	ENST00000333957.4	37	CCDS31758.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.590679	0.66219	.	.	ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552;ENST00000544930	T;T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55;0.55	5.59	5.59	0.84812	.	0.113762	0.64402	D	0.000006	T	0.75598	0.3871	M	0.82323	2.585	0.47994	D	0.999563	D;D;D;D;D;B	0.76494	0.999;0.998;0.973;0.998;0.992;0.256	D;P;P;D;P;B	0.68765	0.96;0.886;0.781;0.914;0.781;0.055	T	0.77958	-0.2392	10	0.59425	D	0.04	-23.219	19.6014	0.95563	0.0:1.0:0.0:0.0	.	537;535;350;537;526;535	F5H2A1;B4DRN7;F5H3N1;B7ZLL0;Q86YS7-2;Q86YS7	.;.;.;.;.;K0528_HUMAN	N	535;535;537;526;535;548;350	ENSP00000334229:S535N;ENSP00000388756:S535N;ENSP00000439392:S537N;ENSP00000379345:S526N;ENSP00000441951:S535N;ENSP00000443204:S548N;ENSP00000445288:S350N	ENSP00000334229:S535N	S	-	2	0	KIAA0528	22526891	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.568000	0.67385	2.622000	0.88805	0.650000	0.86243	AGT		0.353	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802	
PDZRN4	29951	hgsc.bcm.edu	37	12	41961644	41961644	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr12:41961644G>T	ENST00000402685.2	+	9	1535	c.1527G>T	c.(1525-1527)gaG>gaT	p.E509D	PDZRN4_ENST00000539469.2_Missense_Mutation_p.E251D|PDZRN4_ENST00000298919.7_Missense_Mutation_p.E249D	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	509							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E251D(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TAAACTTGGAGATGTTGGAAG	0.403																																					p.E509D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1527T	12						.						98.0	89.0	92.0					12																	41961644		2203	4300	6503	40247911	SO:0001583	missense	29951	exon9			AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.1527G>T	12.37:g.41961644G>T	ENSP00000384197:p.Glu509Asp	Somatic		Capture	SOLID	Phase_I	40247911	NM_001164595	Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	G	8.245	0.807807	0.16467	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.72505	-0.66;3.79;3.79	4.85	1.02	0.19986	.	0.246393	0.34362	N	0.004031	T	0.43986	0.1272	N	0.21194	0.64	0.35733	D	0.818055	P;B;B	0.38922	0.651;0.0;0.0	B;B;B	0.32677	0.15;0.007;0.002	T	0.49041	-0.8980	10	0.08381	T	0.77	-11.5463	6.6789	0.23110	0.6051:0.0:0.3949:0.0	.	509;249;251	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	D	509;251;249	ENSP00000384197:E509D;ENSP00000439990:E251D;ENSP00000298919:E249D	ENSP00000298919:E249D	E	+	3	2	PDZRN4	40247911	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	0.876000	0.28092	0.326000	0.23384	0.585000	0.79938	GAG		0.403	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377	
SPATS2	65244	hgsc.bcm.edu	37	12	49918574	49918574	+	Silent	SNP	C	C	A			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr12:49918574C>A	ENST00000553127.1	+	14	1734	c.1221C>A	c.(1219-1221)gcC>gcA	p.A407A	SPATS2_ENST00000552918.1_Silent_p.A407A|SPATS2_ENST00000321898.6_Silent_p.A407A			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	407	Ser-rich.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.A407A(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						CCACCTGTGCCTCTCCTCCCA	0.527																																					p.A407A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1221A	12						.						174.0	160.0	164.0					12																	49918574		2203	4300	6503	48204841	SO:0001819	synonymous_variant	65244	exon13			AK023179	CCDS31794.1	12q13.12	2009-06-12							18650	protein-coding gene	gene with protein product		611667				11944913, 17989879	Standard	NM_023071		Approved	SPATA10, SCR59, FLJ13117	uc001rud.2	Q86XZ4		ENST00000553127.1:c.1221C>A	12.37:g.49918574C>A		Somatic		Capture	SOLID	Phase_I	48204841	NM_023071	A8K8G9|Q9H7D4|Q9H8Y7|Q9H8Z8	Silent	SNP	ENST00000553127.1	37	CCDS31794.1																																																																																				0.527	SPATS2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404023.1	NM_023071	
STAT2	6773	hgsc.bcm.edu	37	12	56740261	56740261	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr12:56740261C>T	ENST00000314128.4	-	21	2032	c.2009G>A	c.(2008-2010)cGg>cAg	p.R670Q	STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000557235.1_Missense_Mutation_p.R666Q			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	670					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.R670Q(1)		NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						AGCTTCATCCCGGGGGATTCG	0.498																																					p.R666Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1997A	12						.						87.0	84.0	85.0					12																	56740261		2203	4300	6503	55026528	SO:0001583	missense	6773	exon21			BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.2009G>A	12.37:g.56740261C>T	ENSP00000315768:p.Arg670Gln	Somatic		Capture	SOLID	Phase_I	55026528	NM_198332	B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Missense_Mutation	SNP	ENST00000314128.4	37	CCDS8917.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339087	0.81911	.	.	ENSG00000170581	ENST00000314128;ENST00000557235	D;D	0.96940	-4.18;-4.18	5.71	5.71	0.89125	SH2 motif (1);	0.060083	0.64402	D	0.000003	D	0.93949	0.8063	M	0.71581	2.175	0.80722	D	1	P;P	0.45176	0.765;0.852	B;B	0.32624	0.149;0.054	D	0.93895	0.7183	10	0.72032	D	0.01	-28.7727	12.3725	0.55261	0.0:0.9219:0.0:0.0781	.	666;670	G3V2M6;P52630	.;STAT2_HUMAN	Q	670;666	ENSP00000315768:R670Q;ENSP00000450751:R666Q	ENSP00000315768:R670Q	R	-	2	0	STAT2	55026528	0.991000	0.36638	1.000000	0.80357	0.995000	0.86356	2.474000	0.45154	2.873000	0.98535	0.561000	0.74099	CGG		0.498	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419	
MYO1A	4640	hgsc.bcm.edu	37	12	57436899	57436899	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr12:57436899C>T	ENST00000442789.2	-	13	1342	c.1055G>A	c.(1054-1056)cGc>cAc	p.R352H	MYO1A_ENST00000300119.3_Missense_Mutation_p.R352H|MYO1A_ENST00000544473.1_Missense_Mutation_p.R190H	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	352	Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R352H(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GTCAAAGAGGCGGCTGTAGAT	0.557																																					p.R352H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1055A	12						.						106.0	95.0	99.0					12																	57436899		2203	4300	6503	55723166	SO:0001583	missense	4640	exon12			L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.1055G>A	12.37:g.57436899C>T	ENSP00000393392:p.Arg352His	Somatic		Capture	SOLID	Phase_I	55723166	NM_005379	Q9UQD7	Missense_Mutation	SNP	ENST00000442789.2	37	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.336325	0.81801	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473;ENST00000492945	D;D;D;D	0.89552	-2.53;-2.53;-2.53;-2.53	5.17	5.17	0.71159	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.94876	0.8344	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95148	0.8270	10	0.87932	D	0	.	16.5838	0.84722	0.0:1.0:0.0:0.0	.	352	Q9UBC5	MYO1A_HUMAN	H	352;352;190;48	ENSP00000300119:R352H;ENSP00000393392:R352H;ENSP00000440514:R190H;ENSP00000452229:R48H	ENSP00000300119:R352H	R	-	2	0	MYO1A	55723166	1.000000	0.71417	1.000000	0.80357	0.330000	0.28571	7.587000	0.82613	2.861000	0.98227	0.655000	0.94253	CGC		0.557	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379	
CAND1	55832	hgsc.bcm.edu	37	12	67696228	67696228	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr12:67696228T>C	ENST00000545606.1	+	8	1563	c.1126T>C	c.(1126-1128)Tct>Cct	p.S376P		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	376					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)		p.S376P(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		CAAGACCGTCTCTCCTGCACT	0.433																																					p.S376P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1126C	12						.						205.0	190.0	195.0					12																	67696228		2203	4300	6503	65982495	SO:0001583	missense	55832	exon8				CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.1126T>C	12.37:g.67696228T>C	ENSP00000442318:p.Ser376Pro	Somatic		Capture	SOLID	Phase_I	65982495	NM_018448	B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	ENST00000545606.1	37	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	T	32	5.112095	0.94339	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000540047;ENST00000544619	T;T	0.65364	-0.15;-0.15	5.66	5.66	0.87406	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78272	0.4257	M	0.75447	2.3	0.80722	D	1	D;P	0.57899	0.981;0.59	D;B	0.68621	0.959;0.424	T	0.78826	-0.2051	9	.	.	.	-14.2396	16.2026	0.82095	0.0:0.0:0.0:1.0	.	376;376	Q86VP6-2;Q86VP6	.;CAND1_HUMAN	P	376;376;218;84	ENSP00000442318:S376P;ENSP00000444089:S84P	.	S	+	1	0	CAND1	65982495	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.970000	0.88000	2.285000	0.76669	0.533000	0.62120	TCT		0.433	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448	
CAND1	55832	hgsc.bcm.edu	37	12	67698505	67698505	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr12:67698505C>T	ENST00000545606.1	+	9	1851	c.1414C>T	c.(1414-1416)Cac>Tac	p.H472Y		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	472					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)		p.H472Y(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		CCTAACTCAACACATTCCTGT	0.353																																					p.H472Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1414T	12						.						97.0	94.0	95.0					12																	67698505		2203	4300	6503	65984772	SO:0001583	missense	55832	exon9				CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.1414C>T	12.37:g.67698505C>T	ENSP00000442318:p.His472Tyr	Somatic		Capture	SOLID	Phase_I	65984772	NM_018448	B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	ENST00000545606.1	37	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.121246	0.37436	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000540047	T	0.63580	-0.05	5.94	5.94	0.96194	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79913	0.4528	M	0.74389	2.26	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.77915	-0.2409	9	.	.	.	-8.9829	20.3523	0.98815	0.0:1.0:0.0:0.0	.	472	Q86VP6	CAND1_HUMAN	Y	472;472;314	ENSP00000442318:H472Y	.	H	+	1	0	CAND1	65984772	1.000000	0.71417	0.999000	0.59377	0.524000	0.34500	7.738000	0.84966	2.821000	0.97095	0.484000	0.47621	CAC		0.353	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448	
FBXW8	26259	hgsc.bcm.edu	37	12	117423185	117423185	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr12:117423185C>T	ENST00000309909.5	+	6	1092	c.1010C>T	c.(1009-1011)gCg>gTg	p.A337V	FBXW8_ENST00000455858.2_Missense_Mutation_p.A271V|FBXW8_ENST00000551773.1_3'UTR|RP11-231I16.1_ENST00000548738.1_RNA			Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	337					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|labyrinthine layer blood vessel development (GO:0060716)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|spongiotrophoblast layer development (GO:0060712)	Cul7-RING ubiquitin ligase complex (GO:0031467)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)		p.A337V(1)		endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		CAGATAGCTGCGGAATTTGAA	0.468																																					p.A337V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1010T	12						.						139.0	113.0	122.0					12																	117423185		2203	4300	6503	115907568	SO:0001583	missense	26259	exon6			AF176707	CCDS9182.1, CCDS44988.1	12q24.23	2013-01-09	2007-02-08	2003-06-13				"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13597	protein-coding gene	gene with protein product		609073	"""F-box only protein 29"", ""F-box and WD-40 domain protein 8"""	FBXO29		10531035, 10531037	Standard	NM_012174		Approved	FBX29, FBW6, FBW8	uc001twg.1	Q8N3Y1	OTTHUMG00000169329	ENST00000309909.5:c.1010C>T	12.37:g.117423185C>T	ENSP00000310686:p.Ala337Val	Somatic		Capture	SOLID	Phase_I	115907568	NM_153348	Q9UK95	Missense_Mutation	SNP	ENST00000309909.5	37	CCDS9182.1	.	.	.	.	.	.	.	.	.	.	C	9.007	0.981591	0.18812	.	.	ENSG00000174989	ENST00000309909;ENST00000455858;ENST00000505227	T;T	0.08896	3.04;3.06	5.85	5.85	0.93711	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.491774	0.21594	N	0.072046	T	0.08846	0.0219	L	0.36672	1.1	0.09310	N	1	B;B	0.25235	0.024;0.121	B;B	0.15484	0.003;0.013	T	0.17776	-1.0358	10	0.41790	T	0.15	-5.2584	15.4983	0.75673	0.0:0.7578:0.2422:0.0	.	337;271	Q8N3Y1;Q8N3Y1-2	FBXW8_HUMAN;.	V	337;271;271	ENSP00000310686:A337V;ENSP00000389144:A271V	ENSP00000310686:A337V	A	+	2	0	FBXW8	115907568	0.796000	0.28864	0.206000	0.23566	0.525000	0.34531	1.045000	0.30341	2.771000	0.95319	0.561000	0.74099	GCG		0.468	FBXW8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403561.1	NM_012174	
INO80	54617	hgsc.bcm.edu	37	15	41365658	41365658	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr15:41365658C>T	ENST00000361937.3	-	11	1787	c.1363G>A	c.(1363-1365)Gct>Act	p.A455T	INO80_ENST00000401393.3_Missense_Mutation_p.A455T			Q9ULG1	INO80_HUMAN	INO80 complex subunit	455	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.A455T(2)		NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GCATTTTCAGCATTCTTCAGG	0.373																																					p.A455T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1363A	15						.						159.0	146.0	150.0					15																	41365658		2203	4300	6503	39152950	SO:0001583	missense	54617	exon11			AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.1363G>A	15.37:g.41365658C>T	ENSP00000355205:p.Ala455Thr	Somatic		Capture	SOLID	Phase_I	39152950	NM_017553	A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	C	33	5.246552	0.95305	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.93076	-3.16;-3.16	5.45	4.48	0.54585	.	0.000000	0.85682	D	0.000000	D	0.95294	0.8473	M	0.73962	2.25	0.80722	D	1	D	0.61697	0.99	P	0.57204	0.815	D	0.95111	0.8238	10	0.51188	T	0.08	.	15.6652	0.77225	0.0:0.8627:0.1373:0.0	.	455	Q9ULG1	INO80_HUMAN	T	455	ENSP00000355205:A455T;ENSP00000384686:A455T	ENSP00000355205:A455T	A	-	1	0	INO80	39152950	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.780000	0.68956	2.563000	0.86464	0.591000	0.81541	GCT		0.373	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553	
CAPN3	825	hgsc.bcm.edu	37	15	42702171	42702171	+	Missense_Mutation	SNP	G	G	A	rs190793093	byFrequency	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr15:42702171G>A	ENST00000397163.3	+	19	2312	c.2093G>A	c.(2092-2094)cGt>cAt	p.R698H	RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000561817.1_Missense_Mutation_p.R33H|CAPN3_ENST00000397204.4_Missense_Mutation_p.R33H|CAPN3_ENST00000349748.3_Missense_Mutation_p.R606H|CAPN3_ENST00000569136.1_Missense_Mutation_p.R33H|CAPN3_ENST00000562199.1_3'UTR|CAPN3_ENST00000357568.3_Missense_Mutation_p.R692H|CAPN3_ENST00000337571.4_Missense_Mutation_p.R33H|CAPN3_ENST00000356316.3_Missense_Mutation_p.R605H|CAPN3_ENST00000397200.4_Missense_Mutation_p.R186H|CAPN3_ENST00000318023.7_Missense_Mutation_p.R692H	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	698	Domain IV.|EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.		R -> P (in LGMD2A).		apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.R692H(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		GAGTCCTGCCGTAGCATGATT	0.602													G|||	2	0.000399361	0.0015	0.0	5008	,	,		13217	0.0		0.0	False		,,,				2504	0.0				p.R33H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G98A	15	GRCh37	CM990320	CAPN3	M	rs190793093	.						128.0	106.0	114.0					15																	42702171		2203	4299	6502	40489463	SO:0001583	missense	825	exon4			X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.2093G>A	15.37:g.42702171G>A	ENSP00000380349:p.Arg698His	Somatic		Capture	SOLID	Phase_I	40489463	NM_173089	A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	ENST00000397163.3	37	CCDS45245.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	35	5.449625	0.96205	.	.	ENSG00000092529	ENST00000356316;ENST00000337522;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023;ENST00000397200;ENST00000337571;ENST00000397204	T;T;T;T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28	4.79	4.79	0.61399	EF-hand-like domain (1);	0.000000	0.85682	U	0.000000	D	0.91597	0.7345	M	0.89785	3.06	0.80722	D	1	D;D;D;D;D;D;P	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.757	D;D;D;D;D;D;P	0.97110	1.0;1.0;1.0;1.0;1.0;0.999;0.493	D	0.93144	0.6544	10	0.66056	D	0.02	.	18.0246	0.89264	0.0:0.0:1.0:0.0	.	563;611;33;606;692;698;605	C6EVS4;C6EVS3;A4FTZ9;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;.;CAN3_HUMAN;.	H	605;186;698;692;606;692;186;33;33	ENSP00000348667:R605H;ENSP00000380349:R698H;ENSP00000350181:R692H;ENSP00000183936:R606H;ENSP00000326281:R692H;ENSP00000380384:R186H;ENSP00000336840:R33H;ENSP00000380387:R33H	ENSP00000326281:R692H	R	+	2	0	CAPN3	40489463	1.000000	0.71417	0.946000	0.38457	0.926000	0.56050	9.657000	0.98554	2.480000	0.83734	0.491000	0.48974	CGT		0.602	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1		
ZSCAN29	146050	hgsc.bcm.edu	37	15	43656218	43656218	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr15:43656218C>A	ENST00000396976.2	-	4	1719	c.1585G>T	c.(1585-1587)Gca>Tca	p.A529S	ZSCAN29_ENST00000562072.1_Intron|ZSCAN29_ENST00000396972.1_Intron|ZSCAN29_ENST00000568898.1_Intron	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	529					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.A529S(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		GCCTCGTCTGCTTCCTCAGCT	0.562																																					p.A529S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1585T	15						.						102.0	88.0	92.0					15																	43656218		2201	4299	6500	41443510	SO:0001583	missense	146050	exon4			AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"""-"", ""Zinc fingers, C2H2-type"""	26673	protein-coding gene	gene with protein product			"""zinc finger protein 690"""	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.1585G>T	15.37:g.43656218C>A	ENSP00000380174:p.Ala529Ser	Somatic		Capture	SOLID	Phase_I	41443510	NM_152455	B3KVB9|Q32M75|Q32M76|Q8NA40	Missense_Mutation	SNP	ENST00000396976.2	37	CCDS10095.2	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.041081	0.00402	.	.	ENSG00000140265	ENST00000396976	T	0.06933	3.24	5.06	0.0486	0.14285	.	1.241800	0.05309	N	0.524494	T	0.03477	0.0100	N	0.14661	0.345	0.28030	N	0.934164	B	0.31077	0.307	B	0.27380	0.079	T	0.31420	-0.9944	10	0.05833	T	0.94	-0.6322	0.9385	0.01350	0.1674:0.4099:0.163:0.2597	.	529	Q8IWY8	ZSC29_HUMAN	S	529	ENSP00000380174:A529S	ENSP00000380174:A529S	A	-	1	0	ZSCAN29	41443510	0.633000	0.27181	0.002000	0.10522	0.001000	0.01503	0.804000	0.27098	-0.129000	0.11620	-1.107000	0.02091	GCA		0.562	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253278.1	NM_152455	
FBN1	2200	hgsc.bcm.edu	37	15	48720624	48720624	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr15:48720624G>A	ENST00000316623.5	-	57	7371	c.6916C>T	c.(6916-6918)Cgc>Tgc	p.R2306C		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2306	EGF-like 40; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.R2306C(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTGAGGCAGCGCCCATTCTCA	0.493																																					p.R2306C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6916T	15						.						141.0	105.0	117.0					15																	48720624		2198	4296	6494	46507916	SO:0001583	missense	2200	exon57			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.6916C>T	15.37:g.48720624G>A	ENSP00000325527:p.Arg2306Cys	Somatic		Capture	SOLID	Phase_I	46507916	NM_000138	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	G	32	5.171501	0.94807	.	.	ENSG00000166147	ENST00000316623;ENST00000389087	D	0.92199	-2.99	5.76	5.76	0.90799	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.053024	0.85682	D	0.000000	D	0.94660	0.8278	M	0.65677	2.01	0.80722	D	1	D	0.76494	0.999	P	0.57679	0.825	D	0.93569	0.6902	10	0.40728	T	0.16	.	19.5738	0.95432	0.0:0.0:1.0:0.0	.	2306	P35555	FBN1_HUMAN	C	2306;874	ENSP00000325527:R2306C	ENSP00000325527:R2306C	R	-	1	0	FBN1	46507916	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	9.869000	0.99810	2.719000	0.93026	0.555000	0.69702	CGC		0.493	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		
ATP8B4	79895	hgsc.bcm.edu	37	15	50273465	50273465	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr15:50273465T>C	ENST00000284509.6	-	11	916	c.775A>G	c.(775-777)Agt>Ggt	p.S259G	RNA5SP394_ENST00000364216.1_RNA|ATP8B4_ENST00000559829.1_Missense_Mutation_p.S259G|ATP8B4_ENST00000558959.1_5'UTR	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	259						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.S259G(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GTCTTACCACTATTCTGCATT	0.294																																					p.S259G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A775G	15						.						185.0	166.0	172.0					15																	50273465		2195	4295	6490	48060757	SO:0001583	missense	79895	exon11			AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.775A>G	15.37:g.50273465T>C	ENSP00000284509:p.Ser259Gly	Somatic		Capture	SOLID	Phase_I	48060757	NM_024837	Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	T	18.28	3.589276	0.66105	.	.	ENSG00000104043	ENST00000284509	D	0.91180	-2.8	5.52	5.52	0.82312	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.046204	0.85682	D	0.000000	D	0.93080	0.7797	M	0.89163	3.01	0.47037	D	0.999293	B	0.26512	0.151	B	0.36766	0.232	D	0.92390	0.5920	10	0.66056	D	0.02	.	13.8714	0.63622	0.0:0.0:0.0:1.0	.	259	Q8TF62	AT8B4_HUMAN	G	259	ENSP00000284509:S259G	ENSP00000284509:S259G	S	-	1	0	ATP8B4	48060757	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	3.186000	0.50942	2.211000	0.71520	0.533000	0.62120	AGT		0.294	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837	
TLN2	83660	hgsc.bcm.edu	37	15	63040619	63040619	+	Silent	SNP	C	C	T	rs151024322		TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr15:63040619C>T	ENST00000561311.1	+	32	4325	c.4095C>T	c.(4093-4095)tgC>tgT	p.C1365C	TLN2_ENST00000306829.6_Silent_p.C1365C			Q9Y4G6	TLN2_HUMAN	talin 2	1365					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.C1365C(2)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AGAAAGAGTGCGATAATGCCC	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		18194	0.0		0.001	False		,,,				2504	0.0				p.C1365C												.	.	2	Substitution - coding silent(2)	ovary(1)|large_intestine(1)	c.C4095T	15						.	C		2,4404	4.2+/-10.8	0,2,2201	99.0	97.0	98.0		4095	3.8	1.0	15	dbSNP_134	98	12,8588	9.8+/-36.6	0,12,4288	no	coding-synonymous	TLN2	NM_015059.2		0,14,6489	TT,TC,CC		0.1395,0.0454,0.1076		1365/2543	63040619	14,12992	2203	4300	6503	60827911	SO:0001819	synonymous_variant	83660	exon30			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.4095C>T	15.37:g.63040619C>T		Somatic		Capture	SOLID	Phase_I	60827911	NM_015059	A6NLB8	Silent	SNP	ENST00000561311.1	37	CCDS32261.1																																																																																				0.498	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2		
RASGRF1	5923	hgsc.bcm.edu	37	15	79324608	79324608	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr15:79324608C>T	ENST00000419573.3	-	7	1283	c.1009G>A	c.(1009-1011)Gtc>Atc	p.V337I	RASGRF1_ENST00000558480.2_Missense_Mutation_p.V337I|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	337	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.V337I(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TGGTTGCGGACGAACTCTTGG	0.582																																					p.V337I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1009A	15						.						182.0	107.0	133.0					15																	79324608		2196	4293	6489	77111663	SO:0001583	missense	5923	exon7			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.1009G>A	15.37:g.79324608C>T	ENSP00000405963:p.Val337Ile	Somatic		Capture	SOLID	Phase_I	77111663	NM_002891	F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665587	0.88251	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.61627	0.09	4.35	4.35	0.52113	Dbl homology (DH) domain (5);	0.000000	0.64402	D	0.000001	T	0.65801	0.2726	L	0.39566	1.225	0.80722	D	1	D;D;D;D	0.76494	0.994;0.995;0.999;0.994	P;P;D;P	0.64595	0.787;0.881;0.927;0.811	T	0.69124	-0.5228	10	0.66056	D	0.02	.	14.4226	0.67193	0.0:1.0:0.0:0.0	.	337;337;337;337	A8K270;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	I	337	ENSP00000405963:V337I	ENSP00000378224:V337I	V	-	1	0	RASGRF1	77111663	1.000000	0.71417	0.686000	0.30086	0.954000	0.61252	7.469000	0.80959	2.258000	0.74832	0.491000	0.48974	GTC		0.582	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891	
MTHFS	10588	hgsc.bcm.edu	37	15	80137599	80137599	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr15:80137599C>T	ENST00000258874.3	-	3	625	c.565G>A	c.(565-567)Gac>Aac	p.D189N	RP11-38G5.4_ENST00000567415.1_lincRNA|ST20-MTHFS_ENST00000479961.1_Missense_Mutation_p.D165N|ST20-MTHFS_ENST00000494999.1_5'Flank	NM_006441.3	NP_006432.1	P49914	MTHFS_HUMAN	5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)	189					formate metabolic process (GO:0015942)|tetrahydrofolate metabolic process (GO:0046653)	cytoplasm (GO:0005737)	5-formyltetrahydrofolate cyclo-ligase activity (GO:0030272)|ATP binding (GO:0005524)|folic acid binding (GO:0005542)|metal ion binding (GO:0046872)	p.D189N(1)		endometrium(3)|large_intestine(1)|liver(1)	5				all cancers(203;0.00467)		ACCTTCATGTCGTTTTCATTC	0.433																																					p.D165N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G493A	15						.						161.0	143.0	149.0					15																	80137599		2203	4300	6503	77924654	SO:0001583	missense	10588	exon4			L38928	CCDS10311.1	15q24.3	2014-05-15			ENSG00000136371	ENSG00000136371	6.3.3.2		7437	protein-coding gene	gene with protein product		604197				8522195	Standard	NM_006441		Approved	HsT19268	uc002bex.4	P49914	OTTHUMG00000144174	ENST00000258874.3:c.565G>A	15.37:g.80137599C>T	ENSP00000258874:p.Asp189Asn	Somatic		Capture	SOLID	Phase_I	77924654	NM_001199760	H3BQ75	Missense_Mutation	SNP	ENST00000258874.3	37	CCDS10311.1	.	.	.	.	.	.	.	.	.	.	C	36	5.688327	0.96784	.	.	ENSG00000136371	ENST00000258874	D	0.95980	-3.87	6.03	6.03	0.97812	5-formyltetrahydrofolate cyclo-ligase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.98160	0.9392	H	0.97491	4.015	0.80722	D	1	D	0.59767	0.986	P	0.51487	0.671	D	0.98858	1.0761	10	0.87932	D	0	-38.9945	20.5666	0.99351	0.0:1.0:0.0:0.0	.	189	P49914	MTHFS_HUMAN	N	189	ENSP00000258874:D189N	ENSP00000258874:D189N	D	-	1	0	MTHFS	77924654	1.000000	0.71417	0.453000	0.27007	0.966000	0.64601	7.111000	0.77077	2.854000	0.98071	0.655000	0.94253	GAC		0.433	MTHFS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291374.2	NM_006441	
ADAMTSL3	57188	hgsc.bcm.edu	37	15	84659898	84659898	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr15:84659898C>T	ENST00000286744.5	+	23	4129	c.3905C>T	c.(3904-3906)tCt>tTt	p.S1302F	AC027807.1_ENST00000408557.1_RNA|ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.S1302F	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1302	Ig-like C2-type 3.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.S1302F(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AACCATCTGTCTGTTGTGGTT	0.473																																					p.S1302F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3905T	15						.						255.0	233.0	241.0					15																	84659898		2203	4300	6503	82450902	SO:0001583	missense	57188	exon23			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.3905C>T	15.37:g.84659898C>T	ENSP00000286744:p.Ser1302Phe	Somatic		Capture	SOLID	Phase_I	82450902	NM_207517	A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.866282	0.32977	.	.	ENSG00000156218	ENST00000286744	T	0.66099	-0.19	5.34	3.47	0.39725	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.214100	0.06356	N	0.710739	T	0.63474	0.2514	N	0.21194	0.64	0.09310	N	1	P;P	0.52170	0.951;0.933	P;P	0.56514	0.8;0.564	T	0.52646	-0.8548	10	0.66056	D	0.02	.	8.7674	0.34711	0.0:0.7734:0.0:0.2266	.	1302;1302	P82987-2;P82987	.;ATL3_HUMAN	F	1302	ENSP00000286744:S1302F	ENSP00000286744:S1302F	S	+	2	0	ADAMTSL3	82450902	0.943000	0.32029	0.093000	0.20910	0.138000	0.21146	2.064000	0.41432	0.636000	0.30508	0.655000	0.94253	TCT		0.473	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517	
BOD1L1	259282	hgsc.bcm.edu	37	4	13582788	13582788	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr4:13582788C>T	ENST00000040738.5	-	20	8771	c.8636G>A	c.(8635-8637)cGc>cAc	p.R2879H		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2879						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R2879H(1)									AGGGTATTTGCGAGGTCTTCC	0.313																																					p.R2879H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G8636A	4						.						54.0	52.0	52.0					4																	13582788		2201	4297	6498	13191886	SO:0001583	missense	259282	exon20			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.8636G>A	4.37:g.13582788C>T	ENSP00000040738:p.Arg2879His	Somatic		Capture	SOLID	Phase_I	13191886	NM_148894	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	24.9	4.586297	0.86851	.	.	ENSG00000038219	ENST00000040738	T	0.19669	2.13	5.52	5.52	0.82312	AT hook, DNA-binding motif (1);	0.000000	0.56097	D	0.000030	T	0.38214	0.1032	L	0.36672	1.1	0.49915	D	0.999831	D	0.89917	1.0	D	0.85130	0.997	T	0.08534	-1.0717	10	0.66056	D	0.02	-3.9732	16.5824	0.84717	0.0:1.0:0.0:0.0	.	2879	Q8NFC6	BOD1L_HUMAN	H	2879	ENSP00000040738:R2879H	ENSP00000040738:R2879H	R	-	2	0	BOD1L	13191886	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	4.513000	0.60476	2.598000	0.87819	0.655000	0.94253	CGC		0.313	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894	
QRFPR	84109	hgsc.bcm.edu	37	4	122250622	122250622	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr4:122250622A>T	ENST00000394427.2	-	6	1554	c.1143T>A	c.(1141-1143)aaT>aaA	p.N381K	Y_RNA_ENST00000384419.1_RNA|QRFPR_ENST00000334383.5_3'UTR	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	381					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)	p.N381K(1)		endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						CCTCCACTGGATTCTCTCTGA	0.403																																					p.N381K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1143A	4						.						231.0	229.0	230.0					4																	122250622		2203	4300	6503	122470072	SO:0001583	missense	84109	exon6			AF411117	CCDS3719.1	4q27	2012-08-10	2008-12-18	2008-12-18	ENSG00000186867	ENSG00000186867		"""GPCR / Class A : RF amide peptide receptors"""	15565	protein-coding gene	gene with protein product		606925	"""G protein-coupled receptor 103"""	GPR103		11574155	Standard	NM_198179		Approved		uc010inj.1	Q96P65	OTTHUMG00000133036	ENST00000394427.2:c.1143T>A	4.37:g.122250622A>T	ENSP00000377948:p.Asn381Lys	Somatic		Capture	SOLID	Phase_I	122470072	NM_198179		Missense_Mutation	SNP	ENST00000394427.2	37	CCDS3719.1	.	.	.	.	.	.	.	.	.	.	A	11.62	1.693667	0.30052	.	.	ENSG00000186867	ENST00000394427	T	0.71579	-0.58	5.16	-5.35	0.02697	.	0.533387	0.20129	N	0.098637	T	0.48259	0.1490	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46596	-0.9180	10	0.06236	T	0.91	.	13.6201	0.62132	0.5149:0.0:0.4851:0.0	.	381	Q96P65	QRFPR_HUMAN	K	381	ENSP00000377948:N381K	ENSP00000377948:N381K	N	-	3	2	QRFPR	122470072	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.344000	0.07780	-1.122000	0.02945	0.260000	0.18958	AAT		0.403	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256641.2	NM_198179	
MMAA	166785	hgsc.bcm.edu	37	4	146560420	146560420	+	Silent	SNP	G	G	A			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr4:146560420G>A	ENST00000281317.5	+	2	1339	c.129G>A	c.(127-129)ccG>ccA	p.P43P	MMAA_ENST00000541599.1_5'UTR	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	43					cellular lipid metabolic process (GO:0044255)|cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)	p.P43P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTGCTCAGCCGTTTAATTCTC	0.418																																					p.P43P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G129A	4						.						140.0	136.0	138.0					4																	146560420		2203	4300	6503	146779870	SO:0001819	synonymous_variant	166785	exon2			AF524841	CCDS3766.1	4q31.1	2011-05-12	2005-07-11			ENSG00000151611			18871	protein-coding gene	gene with protein product		607481	"""methylmalonic aciduria (cobalamin deficiency) type A"""			12438653	Standard	NM_172250		Approved	cblA	uc003ikh.4	Q8IVH4		ENST00000281317.5:c.129G>A	4.37:g.146560420G>A		Somatic		Capture	SOLID	Phase_I	146779870	NM_172250	B3KX40|Q495G7	Silent	SNP	ENST00000281317.5	37	CCDS3766.1																																																																																				0.418	MMAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364668.2		
CD38	952	hgsc.bcm.edu	37	4	15839763	15839763	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr4:15839763C>T	ENST00000226279.3	+	5	771	c.634C>T	c.(634-636)Cgc>Tgc	p.R212C		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	212					apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|female pregnancy (GO:0007565)|long term synaptic depression (GO:0060292)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone resorption (GO:0045779)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell growth (GO:0030307)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hydroperoxide (GO:0033194)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|phosphorus-oxygen lyase activity (GO:0016849)|transferase activity (GO:0016740)	p.R212C(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						CAATGGATCCCGCAGTAAAAT	0.378																																					p.R212C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C634T	4						.						142.0	132.0	135.0					4																	15839763		2203	4300	6503	15448861	SO:0001583	missense	952	exon5			D84276	CCDS3417.1	4p15.32	2010-05-04	2006-03-28		ENSG00000004468	ENSG00000004468	3.2.2.5	"""CD molecules"""	1667	protein-coding gene	gene with protein product	"""ADP-ribosyl cyclase 1"", ""NAD(+) nucleosidase"""	107270	"""CD38 antigen (p45)"""			9074508, 2319135	Standard	NM_001775		Approved		uc003gol.1	P28907	OTTHUMG00000048206	ENST00000226279.3:c.634C>T	4.37:g.15839763C>T	ENSP00000226279:p.Arg212Cys	Somatic		Capture	SOLID	Phase_I	15448861	NM_001775	O00121|O00122|Q96HY4	Missense_Mutation	SNP	ENST00000226279.3	37	CCDS3417.1	.	.	.	.	.	.	.	.	.	.	C	2.589	-0.295557	0.05532	.	.	ENSG00000004468	ENST00000226279;ENST00000510674	T;T	0.16073	2.37;2.37	5.47	-10.9	0.00192	NAD(P)-binding domain (1);	2.707430	0.01168	N	0.006817	T	0.09379	0.0231	N	0.17082	0.46	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.38607	-0.9653	10	0.48119	T	0.1	1.632	6.8346	0.23929	0.0881:0.5006:0.1645:0.2469	.	212	P28907	CD38_HUMAN	C	212;100	ENSP00000226279:R212C;ENSP00000423047:R100C	ENSP00000226279:R212C	R	+	1	0	CD38	15448861	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-6.068000	0.00082	-6.383000	0.00004	-2.076000	0.00381	CGC		0.378	CD38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250322.2	NM_001775	
FBXW7	55294	hgsc.bcm.edu	37	4	153249384	153249384	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr4:153249384C>T	ENST00000281708.4	-	9	2623	c.1394G>A	c.(1393-1395)cGt>cAt	p.R465H	FBXW7_ENST00000263981.5_Missense_Mutation_p.R385H|FBXW7_ENST00000296555.5_Missense_Mutation_p.R347H|FBXW7_ENST00000603548.1_Missense_Mutation_p.R465H|FBXW7_ENST00000603841.1_Missense_Mutation_p.R465H|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289H	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	465			R -> C (in a acute lymphoblastic leukemia cell line). {ECO:0000269|PubMed:11565033}.|R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R465H(69)|p.R385H(16)|p.R226H(16)|p.R465L(4)|p.R347H(4)|p.R465Y(2)|p.?(1)|p.R385L(1)|p.R226L(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ATGCATACAACGCACAGTGGA	0.408			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																p.R385H			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	FBXW7,large_intestine,NS,Substitution - Missense,0	.	114	Substitution - Missense(113)|Unknown(1)	haematopoietic_and_lymphoid_tissue(40)|large_intestine(39)|endometrium(24)|lung(5)|ovary(4)|cervix(1)|biliary_tract(1)	c.G1154A	4						.						253.0	218.0	230.0					4																	153249384		2203	4300	6503	153468834	SO:0001583	missense	55294	exon8			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1394G>A	4.37:g.153249384C>T	ENSP00000281708:p.Arg465His	Somatic		Capture	SOLID	Phase_I	153468834	NM_018315	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	C	32	5.178201	0.94846	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	6.05	6.05	0.98169	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.63827	0.2544	L	0.56124	1.755	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	T	0.62469	-0.6848	10	0.87932	D	0	-17.2313	20.6013	0.99457	0.0:1.0:0.0:0.0	.	289;465;347;385	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	H	465;347;385;289	ENSP00000281708:R465H;ENSP00000296555:R347H;ENSP00000263981:R385H;ENSP00000377528:R289H	ENSP00000263981:R385H	R	-	2	0	FBXW7	153468834	1.000000	0.71417	0.960000	0.40013	0.996000	0.88848	7.818000	0.86416	2.878000	0.98634	0.650000	0.86243	CGT		0.408	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1		
CPE	1363	hgsc.bcm.edu	37	4	166388900	166388900	+	Missense_Mutation	SNP	C	C	T	rs144727363		TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr4:166388900C>T	ENST00000402744.4	+	3	845	c.565C>T	c.(565-567)Cgg>Tgg	p.R189W		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	189					cardiac left ventricle morphogenesis (GO:0003214)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|insulin processing (GO:0030070)|metabolic process (GO:0008152)|neuropeptide signaling pathway (GO:0007218)|protein localization to membrane (GO:0072657)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)	carboxypeptidase activity (GO:0004180)|cell adhesion molecule binding (GO:0050839)|metallocarboxypeptidase activity (GO:0004181)|neurexin family protein binding (GO:0042043)|zinc ion binding (GO:0008270)	p.R189W(1)		endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AGATCTGAACCGGAACTTTCC	0.383													C|||	1	0.000199681	0.0	0.0	5008	,	,		17760	0.001		0.0	False		,,,				2504	0.0				p.R189W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C565T	4						.	C	TRP/ARG	0,4406		0,0,2203	77.0	75.0	76.0		565	4.5	1.0	4	dbSNP_134	76	2,8598	2.2+/-6.3	0,2,4298	no	missense	CPE	NM_001873.2	101	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	189/477	166388900	2,13004	2203	4300	6503	166608350	SO:0001583	missense	1363	exon3			X51405	CCDS3810.1	4q32.3	2012-02-10			ENSG00000109472	ENSG00000109472	3.4.17.10		2303	protein-coding gene	gene with protein product	"""carboxypeptidase H"", ""enkephalin convertase"", ""insulin granule-associated carboxypeptidase"", ""cobalt-stimulated chromaffin granule carboxypeptidase"""	114855				2334405	Standard	NM_001873		Approved		uc003irg.4	P16870	OTTHUMG00000150252	ENST00000402744.4:c.565C>T	4.37:g.166388900C>T	ENSP00000386104:p.Arg189Trp	Somatic		Capture	SOLID	Phase_I	166608350	NM_001873	A8K4N1|B3KR42|B4DFN4|D3DP33|Q9UIU9	Missense_Mutation	SNP	ENST00000402744.4	37	CCDS3810.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.990105	0.74589	0.0	2.33E-4	ENSG00000109472	ENST00000513982;ENST00000402744;ENST00000261510;ENST00000431967;ENST00000511992	T;T;T;T	0.19394	2.15;2.15;2.15;2.15	5.34	4.49	0.54785	Peptidase M14, carboxypeptidase A (3);	0.058681	0.64402	N	0.000002	T	0.49287	0.1548	H	0.96833	3.89	0.80722	D	1	D	0.55385	0.971	P	0.49561	0.615	T	0.69591	-0.5104	10	0.87932	D	0	-10.9349	14.3947	0.67003	0.268:0.732:0.0:0.0	.	189	P16870	CBPE_HUMAN	W	77;189;153;77;77	ENSP00000424830:R77W;ENSP00000386104:R189W;ENSP00000416601:R77W;ENSP00000423699:R77W	ENSP00000261510:R153W	R	+	1	2	CPE	166608350	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.897000	0.39799	1.213000	0.43380	0.650000	0.86243	CGG		0.383	CPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317094.2	NM_001873	
TLL1	7092	hgsc.bcm.edu	37	4	166914001	166914001	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr4:166914001A>G	ENST00000061240.2	+	3	973	c.326A>G	c.(325-327)tAc>tGc	p.Y109C	TLL1_ENST00000507499.1_Missense_Mutation_p.Y109C|TLL1_ENST00000513213.1_Missense_Mutation_p.Y109C	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	109					cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.Y109C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GGGGCCCTCTACCAACTTATA	0.358																																					p.Y109C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A326G	4						.						118.0	117.0	118.0					4																	166914001		2203	4299	6502	167133451	SO:0001583	missense	7092	exon3			AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.326A>G	4.37:g.166914001A>G	ENSP00000061240:p.Tyr109Cys	Somatic		Capture	SOLID	Phase_I	167133451	NM_012464	B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	A	19.39	3.819272	0.71028	.	.	ENSG00000038295	ENST00000061240;ENST00000507499;ENST00000513213;ENST00000506144	T;T;T;D	0.81996	0.47;0.4;0.31;-1.56	5.52	5.52	0.82312	.	0.253374	0.33772	U	0.004579	D	0.86393	0.5922	M	0.63428	1.95	0.58432	D	0.999996	D;D	0.64830	0.979;0.994	P;P	0.53722	0.594;0.733	D	0.86073	0.1539	10	0.39692	T	0.17	.	15.6377	0.76966	1.0:0.0:0.0:0.0	.	109;109	E9PD25;O43897	.;TLL1_HUMAN	C	109;109;109;9	ENSP00000061240:Y109C;ENSP00000426082:Y109C;ENSP00000422937:Y109C;ENSP00000423748:Y9C	ENSP00000061240:Y109C	Y	+	2	0	TLL1	167133451	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	7.999000	0.88496	2.101000	0.63845	0.460000	0.39030	TAC		0.358	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1		
ANXA10	11199	hgsc.bcm.edu	37	4	169049307	169049307	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr4:169049307C>T	ENST00000359299.3	+	2	277	c.91C>T	c.(91-93)Caa>Taa	p.Q31*		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	31						mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)	p.Q31*(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		AGGAGCACTCCAAGGATTTGG	0.378																																					p.Q31X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C91T	4						.						108.0	108.0	108.0					4																	169049307		2203	4300	6503	169285882	SO:0001587	stop_gained	11199	exon2			AJ238979	CCDS34096.1	4q32.3	2008-02-05			ENSG00000109511	ENSG00000109511		"""Annexins"""	534	protein-coding gene	gene with protein product		608008				10458909	Standard	NM_007193		Approved	ANX14	uc003irm.3	Q9UJ72	OTTHUMG00000161275	ENST00000359299.3:c.91C>T	4.37:g.169049307C>T	ENSP00000352248:p.Gln31*	Somatic		Capture	SOLID	Phase_I	169285882	NM_007193	Q96IQ5|Q9UJV4	Nonsense_Mutation	SNP	ENST00000359299.3	37	CCDS34096.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.583672	0.86748	.	.	ENSG00000109511	ENST00000359299;ENST00000393751	.	.	.	5.66	5.66	0.87406	.	0.075655	0.53938	D	0.000046	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.6596	0.85238	0.0:1.0:0.0:0.0	.	.	.	.	X	31	.	ENSP00000352248:Q31X	Q	+	1	0	ANXA10	169285882	1.000000	0.71417	1.000000	0.80357	0.140000	0.21249	2.999000	0.49473	2.685000	0.91497	0.591000	0.81541	CAA		0.378	ANXA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364348.2	NM_007193	
GLRA3	8001	hgsc.bcm.edu	37	4	175636667	175636667	+	Silent	SNP	T	T	C			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr4:175636667T>C	ENST00000274093.3	-	5	1048	c.546A>G	c.(544-546)gtA>gtG	p.V182V	GLRA3_ENST00000340217.5_Silent_p.V182V	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	182					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.V182V(1)		endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	TACATGTTTGTACATCCATGG	0.279																																					p.V182V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A546G	4						.						80.0	83.0	82.0					4																	175636667		2203	4295	6498	175873242	SO:0001819	synonymous_variant	8001	exon5			AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"""Ligand-gated ion channels / Glycine receptors"""	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.546A>G	4.37:g.175636667T>C		Somatic		Capture	SOLID	Phase_I	175873242	NM_001042543	D3DP44|O75816|Q5D0E3	Silent	SNP	ENST00000274093.3	37	CCDS3822.1																																																																																				0.279	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313427.1		
WDFY3	23001	hgsc.bcm.edu	37	4	85781626	85781626	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr4:85781626C>T	ENST00000295888.4	-	4	526	c.119G>A	c.(118-120)cGg>cAg	p.R40Q	WDFY3_ENST00000322366.6_Missense_Mutation_p.R40Q	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	40					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.R40Q(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AGTCATGTGCCGGGGAGGATG	0.567																																					p.R40Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G119A	4						.						139.0	128.0	132.0					4																	85781626		2203	4300	6503	86000650	SO:0001583	missense	23001	exon4			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.119G>A	4.37:g.85781626C>T	ENSP00000295888:p.Arg40Gln	Somatic		Capture	SOLID	Phase_I	86000650	NM_014991	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.158851	0.57368	.	.	ENSG00000163625	ENST00000322366;ENST00000295888;ENST00000509172	T;T	0.62788	-0.0;-0.0	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.33585	0.0868	N	0.01352	-0.895	0.80722	D	1	B;B	0.29552	0.248;0.248	B;B	0.12837	0.008;0.008	T	0.36866	-0.9730	10	0.15952	T	0.53	.	19.8968	0.96969	0.0:1.0:0.0:0.0	.	40;40	E2QRK8;Q8IZQ1	.;WDFY3_HUMAN	Q	40	ENSP00000318466:R40Q;ENSP00000295888:R40Q	ENSP00000295888:R40Q	R	-	2	0	WDFY3	86000650	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.591000	0.82666	2.691000	0.91804	0.655000	0.94253	CGG		0.567	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991	
SPARCL1	8404	hgsc.bcm.edu	37	4	88412017	88412017	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr4:88412017G>T	ENST00000282470.6	-	6	1775	c.1305C>A	c.(1303-1305)agC>agA	p.S435R	SPARCL1_ENST00000418378.1_Missense_Mutation_p.S435R|SPARCL1_ENST00000503414.1_Missense_Mutation_p.S310R	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	435	Follistatin-like.				signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.S435R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		TACACTGGAAGCTCATGCAAG	0.418																																					p.S435R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1305A	4						.						100.0	98.0	99.0					4																	88412017		2203	4300	6503	88631041	SO:0001583	missense	8404	exon7			X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"""EF-hand domain containing"""	11220	protein-coding gene	gene with protein product		606041	"""SPARC-like 1 (mast9, hevin)"""			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.1305C>A	4.37:g.88412017G>T	ENSP00000282470:p.Ser435Arg	Somatic		Capture	SOLID	Phase_I	88631041	NM_001128310	B4E2Z0|E7ESU2|Q14800	Missense_Mutation	SNP	ENST00000282470.6	37	CCDS3622.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.799701	0.50208	.	.	ENSG00000152583	ENST00000282470;ENST00000418378;ENST00000438050;ENST00000503414	T;T;T	0.44083	0.93;0.93;0.93	4.9	2.99	0.34606	Follistatin-like, N-terminal (1);Osteonectin-like, conserved site (1);Follistatin/Osteonectin EGF domain (1);	0.268585	0.40818	N	0.001005	T	0.35828	0.0945	L	0.40543	1.245	0.27718	N	0.945219	P	0.44344	0.833	B	0.43508	0.422	T	0.21965	-1.0230	10	0.72032	D	0.01	-7.7754	9.6144	0.39683	0.1939:0.0:0.8061:0.0	.	435	Q14515	SPRL1_HUMAN	R	435;435;310;310	ENSP00000282470:S435R;ENSP00000414856:S435R;ENSP00000422903:S310R	ENSP00000282470:S435R	S	-	3	2	SPARCL1	88631041	1.000000	0.71417	0.952000	0.39060	0.708000	0.40852	3.638000	0.54332	0.617000	0.30160	0.650000	0.86243	AGC		0.418	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253059.2		
FAM149A	25854	hgsc.bcm.edu	37	4	187086507	187086507	+	Silent	SNP	C	C	T	rs372069368		TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr4:187086507C>T	ENST00000356371.5	+	11	1926	c.1926C>T	c.(1924-1926)ggC>ggT	p.G642G	FAM149A_ENST00000389354.5_Silent_p.G351G|FAM149A_ENST00000503432.1_Silent_p.G351G|FAM149A_ENST00000227065.4_Silent_p.G351G|FAM149A_ENST00000514153.1_Silent_p.G351G|FAM149A_ENST00000502970.1_Silent_p.G351G			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	642								p.G351G(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		GGCCGACTGGCGTGGACCACA	0.547																																					p.G351G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1053T	4						.	C	,	0,4406		0,0,2203	109.0	102.0	104.0		1053,1053	2.9	0.3	4		104	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	FAM149A	NM_001006655.2,NM_015398.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	351/483,351/483	187086507	1,13005	2203	4300	6503	187323501	SO:0001819	synonymous_variant	25854	exon10			AK057166	CCDS34117.1	4q35.1	2012-04-19			ENSG00000109794	ENSG00000109794			24527	protein-coding gene	gene with protein product							Standard	NM_015398		Approved	DKFZP564J102, MST119, MSTP119	uc010isl.3	A5PLN7	OTTHUMG00000160565	ENST00000356371.5:c.1926C>T	4.37:g.187086507C>T		Somatic		Capture	SOLID	Phase_I	187323501	NM_001006655	B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	Silent	SNP	ENST00000356371.5	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.607|0.607	-0.826695|-0.826695	0.02734|0.02734	0.0|0.0	1.16E-4|1.16E-4	ENSG00000109794|ENSG00000109794	ENST00000510843|ENST00000512271	.|.	.|.	.|.	5.55|5.55	2.88|2.88	0.33553|0.33553	.|.	.|.	.|.	.|.	.|.	T|T	0.54447|0.54447	0.1859|0.1859	.|.	.|.	.|.	0.48395|0.48395	D|D	0.999646|0.999646	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.45160|0.45160	-0.9280|-0.9280	4|4	.|.	.|.	.|.	-23.0647|-23.0647	5.9883|5.9883	0.19446|0.19446	0.1527:0.6884:0.0:0.159|0.1527:0.6884:0.0:0.159	.|.	.|.	.|.	.|.	V|C	29|29	.|.	.|.	A|R	+|+	2|1	0|0	FAM149A|FAM149A	187323501|187323501	0.088000|0.088000	0.21588|0.21588	0.286000|0.286000	0.24833|0.24833	0.007000|0.007000	0.05969|0.05969	0.199000|0.199000	0.17237|0.17237	0.444000|0.444000	0.26612|0.26612	0.655000|0.655000	0.94253|0.94253	GCG|CGT		0.547	FAM149A-201	KNOWN	basic	protein_coding	protein_coding		NM_001006655	
ACTRT1	139741	hgsc.bcm.edu	37	X	127185065	127185065	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chrX:127185065C>T	ENST00000371124.3	-	1	1317	c.1121G>A	c.(1120-1122)aGg>aAg	p.R374K		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	374						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R374K(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						TTAAAAGCACCTTCTTTGAAC	0.468																																					p.R374K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1121A	X						.						165.0	156.0	159.0					X																	127185065		2203	4300	6503	127012746	SO:0001583	missense	139741	exon1			AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.1121G>A	X.37:g.127185065C>T	ENSP00000360165:p.Arg374Lys	Somatic		Capture	SOLID	Phase_I	127012746	NM_138289	Q6X7C1|Q96L10	Missense_Mutation	SNP	ENST00000371124.3	37	CCDS14611.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.941944	0.00479	.	.	ENSG00000123165	ENST00000371124	T	0.23754	1.89	4.23	-5.8	0.02347	.	0.418815	0.22847	N	0.054907	T	0.08582	0.0213	N	0.01505	-0.83	0.18873	N	0.999988	B	0.13594	0.008	B	0.17098	0.017	T	0.19192	-1.0313	10	0.87932	D	0	.	13.5975	0.61998	0.0:0.2168:0.0:0.7832	.	374	Q8TDG2	ACTT1_HUMAN	K	374	ENSP00000360165:R374K	ENSP00000360165:R374K	R	-	2	0	ACTRT1	127012746	0.042000	0.20092	0.142000	0.22268	0.004000	0.04260	0.214000	0.17541	-1.678000	0.01454	-0.914000	0.02751	AGG		0.468	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289	
SH3KBP1	30011	hgsc.bcm.edu	37	X	19713827	19713827	+	Silent	SNP	G	G	A	rs184591130		TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chrX:19713827G>A	ENST00000397821.3	-	5	713	c.423C>T	c.(421-423)aaC>aaT	p.N141N	SH3KBP1_ENST00000379698.4_Silent_p.N104N|SH3KBP1_ENST00000379697.3_Silent_p.N141N	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	141	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.N141N(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						CAGTCTTCCCGTTGAGAACAC	0.478													G|||	4	0.0010596	0.0	0.0	3775	,	,		15136	0.004		0.0	False		,,,				2504	0.0				p.N104N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C312T	X						.						142.0	115.0	124.0					X																	19713827		2203	4300	6503	19623748	SO:0001819	synonymous_variant	30011	exon4			AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.423C>T	X.37:g.19713827G>A		Somatic		Capture	SOLID	Phase_I	19623748	NM_001024666	B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Silent	SNP	ENST00000397821.3	37	CCDS14193.1																																																																																				0.478	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055992.1	NM_031892	
OTC	5009	hgsc.bcm.edu	37	X	38268011	38268011	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chrX:38268011C>A	ENST00000039007.4	+	7	832	c.680C>A	c.(679-681)gCt>gAt	p.A227D	TM4SF2_ENST00000465127.1_Intron	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	227					ammonia homeostasis (GO:0097272)|arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|liver development (GO:0001889)|midgut development (GO:0007494)|ornithine catabolic process (GO:0006593)|protein homotrimerization (GO:0070207)|response to biotin (GO:0070781)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|ornithine carbamoyltransferase activity (GO:0004585)|phosphate ion binding (GO:0042301)|phospholipid binding (GO:0005543)	p.A227D(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	GAGCCGGATGCTAGTGTAACC	0.318																																					p.A227D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C680A	X						.						125.0	94.0	104.0					X																	38268011		2202	4300	6502	38152955	SO:0001583	missense	5009	exon7			K02100	CCDS14247.1	Xp21.1	2014-06-28			ENSG00000036473	ENSG00000036473	2.1.3.3		8512	protein-coding gene	gene with protein product		300461					Standard	NM_000531		Approved		uc004def.4	P00480	OTTHUMG00000022727	ENST00000039007.4:c.680C>A	X.37:g.38268011C>A	ENSP00000039007:p.Ala227Asp	Somatic		Capture	SOLID	Phase_I	38152955	NM_000531	A8K9P2|D3DWB0|Q3KNR1|Q6B0I1|Q9NYJ5	Missense_Mutation	SNP	ENST00000039007.4	37	CCDS14247.1	.	.	.	.	.	.	.	.	.	.	C	3.840	-0.034046	0.07543	.	.	ENSG00000036473	ENST00000039007	D	0.98926	-5.24	5.88	5.02	0.67125	Aspartate/ornithine carbamoyltransferase, Asp/Orn-binding domain (1);	0.484707	0.25741	N	0.028609	D	0.96034	0.8708	L	0.33668	1.02	0.25282	N	0.989421	B	0.18968	0.032	B	0.23018	0.043	D	0.89978	0.4098	10	0.30854	T	0.27	-7.3273	10.6736	0.45772	0.0:0.8323:0.0:0.1677	.	227	P00480	OTC_HUMAN	D	227	ENSP00000039007:A227D	ENSP00000039007:A227D	A	+	2	0	OTC	38152955	0.035000	0.19736	0.811000	0.32455	0.105000	0.19272	0.309000	0.19332	1.235000	0.43724	0.600000	0.82982	GCT		0.318	OTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059006.2		
GPR174	84636	hgsc.bcm.edu	37	X	78426550	78426550	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chrX:78426550G>T	ENST00000276077.1	+	1	82	c.46G>T	c.(46-48)Gat>Tat	p.D16Y		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.D16Y(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						AGACAATACAGATTTTCGATA	0.383										HNSCC(63;0.18)																											p.D16Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G46T	X						.						109.0	92.0	98.0					X																	78426550		2203	4300	6503	78313206	SO:0001583	missense	84636	exon1			AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"""GPCR / Class A : Orphans"""	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.46G>T	X.37:g.78426550G>T	ENSP00000276077:p.Asp16Tyr	Somatic		Capture	SOLID	Phase_I	78313206	NM_032553	Q2M3F7	Missense_Mutation	SNP	ENST00000276077.1	37	CCDS14443.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.399165	0.25291	.	.	ENSG00000147138	ENST00000276077	T	0.38077	1.16	5.0	5.0	0.66597	.	0.352176	0.25241	N	0.032093	T	0.29945	0.0749	N	0.08118	0	0.45439	D	0.99841	P	0.50819	0.939	P	0.53593	0.73	T	0.19321	-1.0309	10	0.72032	D	0.01	.	9.7615	0.40534	0.0976:0.0:0.9024:0.0	.	16	Q9BXC1	GP174_HUMAN	Y	16	ENSP00000276077:D16Y	ENSP00000276077:D16Y	D	+	1	0	GPR174	78313206	1.000000	0.71417	0.809000	0.32408	0.068000	0.16541	4.797000	0.62503	2.069000	0.61940	0.538000	0.68166	GAT		0.383	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057327.1	NM_032553	
ARHGAP36	158763	hgsc.bcm.edu	37	X	130215697	130215697	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chrX:130215697C>T	ENST00000276211.5	+	2	403	c.58C>T	c.(58-60)Ccc>Tcc	p.P20S	ARHGAP36_ENST00000370921.1_5'Flank|ARHGAP36_ENST00000370922.1_Intron	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	20					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.P20S(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CAGAATCATGCCCCCTTTGCT	0.512																																					p.P20S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C58T	X						.						174.0	121.0	139.0					X																	130215697		2203	4300	6503	130043378	SO:0001583	missense	158763	exon2				CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.58C>T	X.37:g.130215697C>T	ENSP00000276211:p.Pro20Ser	Somatic		Capture	SOLID	Phase_I	130043378	NM_144967	B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.362986	0.61403	.	.	ENSG00000147256	ENST00000276211	T	0.14516	2.5	4.16	4.16	0.48862	.	0.521980	0.16273	N	0.221692	T	0.10637	0.0260	N	0.19112	0.55	0.80722	D	1	P	0.48694	0.914	B	0.42995	0.404	T	0.05886	-1.0858	10	0.87932	D	0	.	10.8111	0.46547	0.0:1.0:0.0:0.0	.	20	Q6ZRI8	RHG36_HUMAN	S	20	ENSP00000276211:P20S	ENSP00000276211:P20S	P	+	1	0	ARHGAP36	130043378	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	1.441000	0.35035	2.315000	0.78130	0.544000	0.68410	CCC		0.512	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967	
LRP1B	53353	hgsc.bcm.edu	37	2	141214077	141214077	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr2:141214077A>C	ENST00000389484.3	-	62	10881	c.9910T>G	c.(9910-9912)Ttc>Gtc	p.F3304V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3304	EGF-like 13. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.F3304V(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCCAGATAGAAGTTAGTGGGA	0.438										TSP Lung(27;0.18)																											p.F3304V	Colon(99;50 2074 2507 20106)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T9910G	2						.						112.0	104.0	106.0					2																	141214077		2203	4300	6503	140930547	SO:0001583	missense	53353	exon62			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.9910T>G	2.37:g.141214077A>C	ENSP00000374135:p.Phe3304Val	Somatic		Capture	SOLID	Phase_I	140930547	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.274865	0.80580	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.96554	-4.05	5.31	5.31	0.75309	Growth factor, receptor (1);Epidermal growth factor-like (1);	0.000000	0.85682	U	0.000000	D	0.97666	0.9235	M	0.70842	2.15	0.58432	D	0.999996	D	0.76494	0.999	D	0.78314	0.991	D	0.98113	1.0421	10	0.54805	T	0.06	.	15.2549	0.73576	1.0:0.0:0.0:0.0	.	3304	Q9NZR2	LRP1B_HUMAN	V	3304;3242	ENSP00000374135:F3304V	ENSP00000374135:F3304V	F	-	1	0	LRP1B	140930547	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.307000	0.96226	1.992000	0.58205	0.528000	0.53228	TTC		0.438	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
ZEB2	9839	hgsc.bcm.edu	37	2	145156556	145156556	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr2:145156556A>G	ENST00000558170.2	-	8	3382	c.2198T>C	c.(2197-2199)gTa>gCa	p.V733A	ZEB2_ENST00000303660.4_Missense_Mutation_p.V733A|ZEB2_ENST00000409487.3_Missense_Mutation_p.V733A|ZEB2_ENST00000539609.3_Missense_Mutation_p.V709A	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	733					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.V733A(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CATAGGTTTTACAGGAGACCT	0.453																																					p.V709A	Melanoma(33;1235 1264 5755 16332)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2126C	2						.						220.0	229.0	226.0					2																	145156556		2203	4300	6503	144873026	SO:0001583	missense	9839	exon7			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.2198T>C	2.37:g.145156556A>G	ENSP00000454157:p.Val733Ala	Somatic		Capture	SOLID	Phase_I	144873026	NM_001171653	A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	A	2.619	-0.289012	0.05605	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	T;T;T	0.12672	2.68;2.66;2.66	5.04	5.04	0.67666	.	0.228496	0.44902	D	0.000415	T	0.09468	0.0233	N	0.19112	0.55	0.34516	D	0.707623	B;B;B;B	0.16396	0.017;0.01;0.01;0.01	B;B;B;B	0.16289	0.015;0.01;0.007;0.007	T	0.16988	-1.0384	10	0.12766	T	0.61	-0.7164	15.0878	0.72167	1.0:0.0:0.0:0.0	.	709;598;732;733	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	A	709;733;733	ENSP00000443792:V709A;ENSP00000302501:V733A;ENSP00000386854:V733A	ENSP00000302501:V733A	V	-	2	0	ZEB2	144873026	1.000000	0.71417	0.050000	0.19076	0.850000	0.48378	7.256000	0.78350	2.030000	0.59900	0.533000	0.62120	GTA		0.453	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795	
SCN1A	6323	hgsc.bcm.edu	37	2	166903407	166903407	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr2:166903407A>G	ENST00000303395.4	-	9	1249	c.1250T>C	c.(1249-1251)tTg>tCg	p.L417S	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.L417S|SCN1A_ENST00000423058.2_Missense_Mutation_p.L417S|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.L417S|AC010127.3_ENST00000595268.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	417					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.L417S(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGCCAGGATCAAATTTATTAG	0.423																																					p.L417S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1250C	2						.						105.0	100.0	102.0					2																	166903407		2203	4300	6503	166611653	SO:0001583	missense	6323	exon9			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.1250T>C	2.37:g.166903407A>G	ENSP00000303540:p.Leu417Ser	Somatic		Capture	SOLID	Phase_I	166611653	NM_001165964	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.563790	0.86335	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.99282	-5.68;-5.68;-5.68;-5.68	5.31	5.31	0.75309	Ion transport (1);	0.000000	0.51477	D	0.000087	D	0.99746	0.9899	H	0.99726	4.73	0.54753	D	0.999981	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.997;0.999	D	0.96779	0.9574	10	0.87932	D	0	.	15.5638	0.76273	1.0:0.0:0.0:0.0	.	417;417;417	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	S	417	ENSP00000407030:L417S;ENSP00000303540:L417S;ENSP00000364554:L417S;ENSP00000386312:L417S	ENSP00000303540:L417S	L	-	2	0	SCN1A	166611653	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	9.284000	0.95882	2.132000	0.65825	0.533000	0.62120	TTG		0.423	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920	
TTN	7273	hgsc.bcm.edu	37	2	179611640	179611640	+	Intron	SNP	G	G	A			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr2:179611640G>A	ENST00000591111.1	-	46	10585				TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.R5163C|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R5163C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAATCGGAACGCCATATTTCA	0.388																																					p.R5163C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C15487T	2						.						120.0	118.0	119.0					2																	179611640		2203	4299	6502	179319885	SO:0001627	intron_variant	7273	exon46			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-4992C>T	2.37:g.179611640G>A		Somatic		Capture	SOLID	Phase_I	179319885	NM_133379	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	14.38	2.517794	0.44763	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.62498	0.02	5.95	5.95	0.96441	.	.	.	.	.	T	0.66287	0.2774	L	0.29908	0.895	0.80722	D	1	D	0.67145	0.996	P	0.62298	0.9	T	0.67887	-0.5554	9	0.66056	D	0.02	.	12.8053	0.57610	0.077:0.0:0.923:0.0	.	5163	Q8WZ42-6	.	C	5163;444	ENSP00000354117:R5163C	ENSP00000304714:R444C	R	-	1	0	TTN	179319885	0.576000	0.26700	0.926000	0.36857	0.512000	0.34134	2.678000	0.46900	2.825000	0.97269	0.655000	0.94253	CGT		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
CERKL	375298	hgsc.bcm.edu	37	2	182409509	182409509	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr2:182409509C>T	ENST00000339098.5	-	12	1360	c.1361G>A	c.(1360-1362)aGt>aAt	p.S454N	CERKL_ENST00000409440.3_Missense_Mutation_p.S410N|CERKL_ENST00000374970.2_Missense_Mutation_p.S359N|CERKL_ENST00000374969.2_Missense_Mutation_p.S315N|CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000410087.3_Missense_Mutation_p.S428N			Q49MI3	CERKL_HUMAN	ceramide kinase-like	454					negative regulation of apoptotic process (GO:0043066)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.S428N(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			AAGAGCCATACTTCCATTATT	0.279																																					p.S428N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1283A	2						.						46.0	47.0	47.0					2																	182409509		2200	4296	6496	182117754	SO:0001583	missense	375298	exon11			BC020465	CCDS33340.1, CCDS33341.1, CCDS42789.1, CCDS46466.1, CCDS54425.1	2q31.3	2005-01-04			ENSG00000188452	ENSG00000188452			21699	protein-coding gene	gene with protein product			"""retinitis pigmentosa 26 (autosomal recessive)"""	RP26		14681825	Standard	NR_027689		Approved		uc002uny.3	Q49MI3	OTTHUMG00000154315	ENST00000339098.5:c.1361G>A	2.37:g.182409509C>T	ENSP00000341159:p.Ser454Asn	Somatic		Capture	SOLID	Phase_I	182117754	NM_201548	B2RPL2|B4DEY1|Q49MH9|Q49MI0|Q49MI1|Q49MI2|Q5DVJ2|Q5DVJ4|Q5DVJ5|Q6UZF6|Q6ZP59	Missense_Mutation	SNP	ENST00000339098.5	37	CCDS42789.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742893	0.89573	.	.	ENSG00000188452	ENST00000410087;ENST00000409440;ENST00000374969;ENST00000339098;ENST00000374970	T;T;T;T;T	0.13901	2.55;2.55;2.55;2.55;2.55	5.98	5.98	0.97165	.	0.041465	0.85682	D	0.000000	T	0.36054	0.0953	M	0.70842	2.15	0.43988	D	0.996687	D;D;D;D;D	0.76494	0.998;0.991;0.996;0.999;0.998	D;D;D;D;D	0.75484	0.919;0.921;0.986;0.969;0.919	T	0.00862	-1.1536	10	0.28530	T	0.3	.	15.8734	0.79141	0.0:0.8653:0.1347:0.0	.	410;315;359;428;454	B4DEY1;Q49MI3-4;Q49MI3-3;Q49MI3-2;Q49MI3	.;.;.;.;CERKL_HUMAN	N	428;410;315;454;359	ENSP00000386725:S428N;ENSP00000387080:S410N;ENSP00000364108:S315N;ENSP00000341159:S454N;ENSP00000364109:S359N	ENSP00000341159:S454N	S	-	2	0	CERKL	182117754	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.667000	0.68067	2.838000	0.97847	0.655000	0.94253	AGT		0.279	CERKL-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334811.1		
CASP8	841	hgsc.bcm.edu	37	2	202141689	202141689	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr2:202141689C>T	ENST00000432109.2	+	8	989	c.800C>T	c.(799-801)gCa>gTa	p.A267V	CASP8_ENST00000323492.7_Missense_Mutation_p.A252V|CASP8_ENST00000264274.9_Intron|CASP8_ENST00000264275.5_Missense_Mutation_p.A284V|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000392258.3_3'UTR|CASP8_ENST00000358485.4_Missense_Mutation_p.A326V	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	267					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)	p.A284V(1)|p.A326V(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CACTTGGATGCAGGTACAGTA	0.383										HNSCC(4;0.00038)																											p.A252V	Melanoma(82;831 1348 20716 36952 40159)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C755T	2						.						71.0	63.0	66.0					2																	202141689		2203	4300	6503	201849934	SO:0001583	missense	841	exon6			U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.800C>T	2.37:g.202141689C>T	ENSP00000412523:p.Ala267Val	Somatic		Capture	SOLID	Phase_I	201849934	NM_033356	O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	ENST00000432109.2	37	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.097640	0.56075	.	.	ENSG00000064012	ENST00000392263;ENST00000432109;ENST00000264275;ENST00000450491;ENST00000358485;ENST00000392261;ENST00000323492	T;T;T;T;T;T	0.61392	2.06;2.06;2.06;0.11;2.06;2.06	5.49	1.09	0.20402	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.672817	0.15250	N	0.272390	T	0.69287	0.3094	L	0.49126	1.545	0.80722	D	1	D;D;D;P;P;D	0.89917	1.0;1.0;0.98;0.681;0.796;1.0	D;D;B;B;B;P	0.91635	0.999;0.998;0.434;0.228;0.139;0.885	T	0.69694	-0.5076	10	0.87932	D	0	.	13.8086	0.63248	0.5231:0.4769:0.0:0.0	.	267;252;326;267;252;284	Q14790-7;A8MU92;Q14790-9;Q14790;Q14790-2;Q14790-4	.;.;.;CASP8_HUMAN;.;.	V	252;267;284;149;326;252;252	ENSP00000376091:A252V;ENSP00000412523:A267V;ENSP00000264275:A284V;ENSP00000391709:A149V;ENSP00000351273:A326V;ENSP00000325722:A252V	ENSP00000264275:A284V	A	+	2	0	CASP8	201849934	1.000000	0.71417	0.997000	0.53966	0.340000	0.28889	2.268000	0.43338	0.163000	0.19507	-0.310000	0.09108	GCA		0.383	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228	
RHBDD1	84236	hgsc.bcm.edu	37	2	227860176	227860176	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr2:227860176G>A	ENST00000341329.3	+	7	1128	c.886G>A	c.(886-888)Ggg>Agg	p.G296R	RHBDD1_ENST00000392062.2_Missense_Mutation_p.G296R|RHBDD1_ENST00000493526.1_3'UTR	NM_032276.3	NP_115652.2	Q8TEB9	RHBL4_HUMAN	rhomboid domain containing 1	296					apoptotic process (GO:0006915)|cellular response to unfolded protein (GO:0034620)|cellular response to UV (GO:0034644)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|membrane protein intracellular domain proteolysis (GO:0031293)|membrane protein proteolysis (GO:0033619)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein processing (GO:0010954)|positive regulation of secretion (GO:0051047)|post-translational protein modification (GO:0043687)|spermatid differentiation (GO:0048515)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of endoplasmic reticulum membrane (GO:0030176)|mitochondrion (GO:0005739)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)	p.G296R(1)		breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		ACCACCCTACGGGTTTCATCT	0.463																																					p.G296R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G886A	2						.						75.0	73.0	73.0					2																	227860176		2203	4300	6503	227568420	SO:0001583	missense	84236	exon9			AK074258	CCDS2464.1	2q36.3	2012-07-09			ENSG00000144468	ENSG00000144468			23081	protein-coding gene	gene with protein product						12838346	Standard	NM_032276		Approved	DKFZp547E052	uc002voi.3	Q8TEB9	OTTHUMG00000133178	ENST00000341329.3:c.886G>A	2.37:g.227860176G>A	ENSP00000344779:p.Gly296Arg	Somatic		Capture	SOLID	Phase_I	227568420	NM_001167608	Q495B9|Q53S43|Q5EBM8|Q6P5V8|Q8IV60|Q9H057	Missense_Mutation	SNP	ENST00000341329.3	37	CCDS2464.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.016229	0.93404	.	.	ENSG00000144468	ENST00000341329;ENST00000392062	T;T	0.54675	0.56;0.56	5.36	4.48	0.54585	.	0.049475	0.85682	D	0.000000	T	0.60143	0.2246	M	0.69823	2.125	0.40735	D	0.982786	D;B	0.56746	0.977;0.263	P;B	0.50352	0.638;0.031	T	0.65360	-0.6187	10	0.51188	T	0.08	-9.5844	12.5366	0.56145	0.0:0.1673:0.8327:0.0	.	87;296	Q8TEB9-2;Q8TEB9	.;RHBD1_HUMAN	R	296	ENSP00000344779:G296R;ENSP00000375914:G296R	ENSP00000344779:G296R	G	+	1	0	RHBDD1	227568420	1.000000	0.71417	0.881000	0.34555	0.480000	0.33159	3.034000	0.49751	1.388000	0.46506	0.655000	0.94253	GGG		0.463	RHBDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256885.2		
ADAM17	6868	hgsc.bcm.edu	37	2	9676856	9676856	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr2:9676856C>T	ENST00000310823.3	-	3	514	c.332G>A	c.(331-333)tGg>tAg	p.W111*	ADAM17_ENST00000497134.1_Nonsense_Mutation_p.W111*	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	111					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)	p.W111*(1)		breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		GAAGTCCTGCCATTTTACAGT	0.408																																					p.W111X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G332A	2						.						196.0	166.0	176.0					2																	9676856		2203	4300	6503	9594307	SO:0001587	stop_gained	6868	exon3			U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	195	protein-coding gene	gene with protein product		603639	"""tumor necrosis factor, alpha, converting enzyme"""	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.332G>A	2.37:g.9676856C>T	ENSP00000309968:p.Trp111*	Somatic		Capture	SOLID	Phase_I	9594307	NM_003183	O60226	Nonsense_Mutation	SNP	ENST00000310823.3	37	CCDS1665.1	.	.	.	.	.	.	.	.	.	.	C	36	5.825704	0.96996	.	.	ENSG00000151694	ENST00000310823;ENST00000497134;ENST00000538558	.	.	.	5.42	5.42	0.78866	.	0.467350	0.22954	N	0.053625	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	19.2137	0.93767	0.0:1.0:0.0:0.0	.	.	.	.	X	111	.	ENSP00000309968:W111X	W	-	2	0	ADAM17	9594307	1.000000	0.71417	0.997000	0.53966	0.835000	0.47333	4.142000	0.58044	2.529000	0.85273	0.585000	0.79938	TGG		0.408	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206857.1		
DNMT3A	1788	hgsc.bcm.edu	37	2	25457158	25457158	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr2:25457158G>A	ENST00000264709.3	-	23	3066	c.2729C>T	c.(2728-2730)gCg>gTg	p.A910V	DNMT3A_ENST00000402667.1_Missense_Mutation_p.A687V|DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000321117.5_Missense_Mutation_p.A910V|DNMT3A_ENST00000380746.4_Missense_Mutation_p.A721V	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	910	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.A910V(4)|p.A721V(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTACACACACGCAAAATACTC	0.498			"""Mis, F, N, S"""		AML																																p.A910V			Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	.	.	5	Substitution - Missense(5)	haematopoietic_and_lymphoid_tissue(2)|endometrium(2)|large_intestine(1)	c.C2729T	2						.						73.0	70.0	71.0					2																	25457158		2203	4300	6503	25310662	SO:0001583	missense	1788	exon23				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2729C>T	2.37:g.25457158G>A	ENSP00000264709:p.Ala910Val	Somatic		Capture	SOLID	Phase_I	25310662	NM_175629	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428382	0.83667	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.96967	-4.19;-4.19;-4.19;-4.19	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.96414	0.8830	M	0.77820	2.39	0.80722	D	1	D;P	0.65815	0.995;0.922	P;B	0.45794	0.493;0.014	D	0.96757	0.9558	10	0.62326	D	0.03	-4.1862	18.0755	0.89426	0.0:0.0:1.0:0.0	.	910;721	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	V	721;910;910;687	ENSP00000370122:A721V;ENSP00000324375:A910V;ENSP00000264709:A910V;ENSP00000384237:A687V	ENSP00000264709:A910V	A	-	2	0	DNMT3A	25310662	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.864000	0.99589	2.595000	0.87683	0.561000	0.74099	GCG		0.498	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552	
PROKR1	10887	hgsc.bcm.edu	37	2	68882420	68882420	+	Silent	SNP	G	G	A			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr2:68882420G>A	ENST00000303786.3	+	3	1314	c.894G>A	c.(892-894)gcG>gcA	p.A298A	PROKR1_ENST00000394342.2_Silent_p.A298A			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	298					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.A298A(1)		endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TATGCTGGGCGCCCTTCTACG	0.592																																					p.A298A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G894A	2						.						130.0	99.0	109.0					2																	68882420		2203	4300	6503	68735924	SO:0001819	synonymous_variant	10887	exon2			AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"""GPCR / Class A : Prokineticin receptors"""	4524	protein-coding gene	gene with protein product		607122	"""G protein-coupled receptor 73"""	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.894G>A	2.37:g.68882420G>A		Somatic		Capture	SOLID	Phase_I	68735924	NM_138964	A5JUU2|Q53QT9|Q8NFJ7	Silent	SNP	ENST00000303786.3	37	CCDS1889.1																																																																																				0.592	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251760.2		
DYSF	8291	hgsc.bcm.edu	37	2	71908181	71908181	+	Silent	SNP	G	G	A			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr2:71908181G>A	ENST00000258104.3	+	53	6274	c.5997G>A	c.(5995-5997)gaG>gaA	p.E1999E	DYSF_ENST00000409762.1_Silent_p.E2016E|DYSF_ENST00000394120.2_Silent_p.E2000E|DYSF_ENST00000413539.2_Silent_p.E2030E|DYSF_ENST00000409366.1_Silent_p.E2021E|DYSF_ENST00000409651.1_Silent_p.E2031E|DYSF_ENST00000410041.1_Silent_p.E2017E|DYSF_ENST00000410020.3_Silent_p.E2038E|DYSF_ENST00000409744.1_Silent_p.E2007E|DYSF_ENST00000429174.2_Silent_p.E2020E|DYSF_ENST00000409582.3_Silent_p.E2037E|DYSF_ENST00000479049.2_3'UTR	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1999					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)	p.E1999E(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						AGCATGAGGAGCGGCCTGCTG	0.607																																					p.E2031E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G6093A	2						.						63.0	60.0	61.0					2																	71908181		2203	4300	6503	71761689	SO:0001819	synonymous_variant	8291	exon54			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.5997G>A	2.37:g.71908181G>A		Somatic		Capture	SOLID	Phase_I	71761689	NM_001130982	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	ENST00000258104.3	37	CCDS1918.1																																																																																				0.607	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494	
PID1	55022	hgsc.bcm.edu	37	2	229890388	229890388	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr2:229890388G>T	ENST00000354069.6	-	3	743	c.713C>A	c.(712-714)tCc>tAc	p.S238Y	PID1_ENST00000392055.3_Missense_Mutation_p.S205Y|PID1_ENST00000392054.3_Missense_Mutation_p.S236Y|PID1_ENST00000482518.2_Intron|PID1_ENST00000409462.1_Missense_Mutation_p.S156Y			Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	238	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to cytokine stimulus (GO:0071345)|cellular response to fatty acid (GO:0071398)|cellular response to interleukin-6 (GO:0071354)|cellular response to leptin stimulus (GO:0044320)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|mitochondrion morphogenesis (GO:0070584)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of mitochondrial DNA replication (GO:0090298)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of fat cell proliferation (GO:0070346)|positive regulation of gene expression (GO:0010628)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial fusion (GO:0010635)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S236Y(1)		breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		AACCTCTTCGGAGGAGCTGTT	0.527																																					p.S205Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C614A	2						.						92.0	92.0	92.0					2																	229890388		2203	4300	6503	229598632	SO:0001583	missense	55022	exon3			AK096636	CCDS2471.1, CCDS42830.1	2q36.3	2007-02-02			ENSG00000153823	ENSG00000153823			26084	protein-coding gene	gene with protein product		612930				17124247, 16815647, 15221005	Standard	NM_001100818		Approved	NYGGF4, FLJ20701	uc002vps.4	Q7Z2X4	OTTHUMG00000133191	ENST00000354069.6:c.713C>A	2.37:g.229890388G>T	ENSP00000283937:p.Ser238Tyr	Somatic		Capture	SOLID	Phase_I	229598632	NM_001100818	B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Missense_Mutation	SNP	ENST00000354069.6	37		.	.	.	.	.	.	.	.	.	.	G	17.97	3.518202	0.64634	.	.	ENSG00000153823	ENST00000392054;ENST00000409462;ENST00000392055;ENST00000542363;ENST00000354069	.	.	.	5.96	5.96	0.96718	.	0.172346	0.53938	D	0.000055	T	0.64897	0.2640	L	0.36672	1.1	0.39621	D	0.970031	D;P;D;D	0.65815	0.972;0.924;0.995;0.991	P;P;P;P	0.58172	0.46;0.46;0.834;0.687	T	0.61023	-0.7146	8	.	.	.	-32.3088	19.3963	0.94608	0.0:0.0:1.0:0.0	.	156;205;236;238	Q7Z2X4-3;Q7Z2X4-4;Q7Z2X4-2;Q7Z2X4	.;.;.;PCLI1_HUMAN	Y	236;156;205;238;238	.	.	S	-	2	0	PID1	229598632	1.000000	0.71417	0.633000	0.29310	0.661000	0.39034	7.456000	0.80751	2.814000	0.96858	0.655000	0.94253	TCC		0.527	PID1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000331810.2	NM_017933	
RNF20	56254	hgsc.bcm.edu	37	9	104309234	104309234	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr9:104309234G>T	ENST00000389120.3	+	7	970	c.880G>T	c.(880-882)Gaa>Taa	p.E294*	AL591377.1_ENST00000584534.1_RNA	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	294					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E294*(1)		breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		ACACTTAGCAGAAGTCCTAGA	0.468																																					p.E294X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G880T	9						.						78.0	72.0	74.0					9																	104309234		2203	4300	6503	103349055	SO:0001587	stop_gained	56254	exon7			AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.880G>T	9.37:g.104309234G>T	ENSP00000373772:p.Glu294*	Somatic		Capture	SOLID	Phase_I	103349055	NM_019592	A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Nonsense_Mutation	SNP	ENST00000389120.3	37	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	G	38	6.896579	0.97916	.	.	ENSG00000155827	ENST00000389120	.	.	.	5.53	5.53	0.82687	.	0.042860	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-15.4531	19.4339	0.94783	0.0:0.0:1.0:0.0	.	.	.	.	X	294	.	ENSP00000373772:E294X	E	+	1	0	RNF20	103349055	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.656000	0.83736	2.755000	0.94549	0.650000	0.86243	GAA		0.468	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592	
TXNDC8	255220	hgsc.bcm.edu	37	9	113096533	113096533	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr9:113096533C>A	ENST00000374511.3	-	2	140	c.92G>T	c.(91-93)cGg>cTg	p.R31L	TXNDC8_ENST00000374507.4_Missense_Mutation_p.R31L|TXNDC8_ENST00000423740.2_Missense_Mutation_p.R31L|TXNDC8_ENST00000374510.4_Missense_Mutation_p.R31L			Q6A555	TXND8_HUMAN	thioredoxin domain containing 8 (spermatozoa)	31	Thioredoxin.				acrosome assembly (GO:0001675)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|sperm flagellum (GO:0036126)		p.R31L(1)		endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						GGGACCACACCGTTTCGAAGA	0.353																																					p.R31L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G92T	9						.						63.0	59.0	61.0					9																	113096533		2203	4300	6503	112136354	SO:0001583	missense	255220	exon2			BC035743	CCDS35104.1, CCDS69639.1, CCDS75872.1	9q31.3	2007-08-16	2007-08-16	2007-08-16	ENSG00000204193	ENSG00000204193			31454	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 3"""						Standard	XM_005251879		Approved	bA427L11.2, TRX6, SPTRX-3	uc004bes.3	Q6A555	OTTHUMG00000020481	ENST00000374511.3:c.92G>T	9.37:g.113096533C>A	ENSP00000363635:p.Arg31Leu	Somatic		Capture	SOLID	Phase_I	112136354	NM_001003936	A1L4I2|A6NDK7|Q5T934	Missense_Mutation	SNP	ENST00000374511.3	37		.	.	.	.	.	.	.	.	.	.	C	12.01	1.809845	0.31961	.	.	ENSG00000204193	ENST00000374511;ENST00000374510;ENST00000423740;ENST00000374507	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	5.14	4.25	0.50352	.	0.226724	0.31335	N	0.007825	T	0.13927	0.0337	N	0.19112	0.55	0.22803	N	0.998712	B;B	0.10296	0.0;0.003	B;B	0.10450	0.0;0.005	T	0.18304	-1.0341	10	0.72032	D	0.01	-2.6011	9.7474	0.40455	0.0:0.907:0.0:0.093	.	31;31	B7ZME0;Q6A555-2	.;.	L	31	ENSP00000363635:R31L;ENSP00000363634:R31L;ENSP00000408768:R31L;ENSP00000363631:R31L	ENSP00000363631:R31L	R	-	2	0	TXNDC8	112136354	1.000000	0.71417	1.000000	0.80357	0.264000	0.26372	2.287000	0.43505	1.397000	0.46682	-0.133000	0.14855	CGG		0.353	TXNDC8-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001003936	
FAM214B	80256	hgsc.bcm.edu	37	9	35106314	35106314	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr9:35106314C>T	ENST00000378561.1	-	5	4208	c.1153G>A	c.(1153-1155)Gtc>Atc	p.V385I	FAM214B_ENST00000378566.1_Missense_Mutation_p.V80I|FAM214B_ENST00000605392.1_5'Flank|FAM214B_ENST00000378557.1_Missense_Mutation_p.V385I|FAM214B_ENST00000322813.5_Missense_Mutation_p.V385I|FAM214B_ENST00000605244.1_Missense_Mutation_p.V385I|FAM214B_ENST00000378554.2_Missense_Mutation_p.V385I|FAM214B_ENST00000488109.2_Missense_Mutation_p.V385I|FAM214B_ENST00000603301.1_Missense_Mutation_p.V385I			Q7L5A3	F214B_HUMAN	family with sequence similarity 214, member B	385						nucleus (GO:0005634)		p.V385I(1)									GGCAGCGTGACGTGCTGGGGG	0.532																																					p.V385I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1153A	9						.						103.0	96.0	98.0					9																	35106314		2203	4300	6503	35096314	SO:0001583	missense	80256	exon6			AB040972	CCDS6578.1	9p13.2	2011-12-01	2011-12-01	2011-12-01	ENSG00000005238	ENSG00000005238			25666	protein-coding gene	gene with protein product			"""KIAA1539"""	KIAA1539		10819331	Standard	NM_025182		Approved	FLJ11560, bA182N22.6	uc003zwo.3	Q7L5A3	OTTHUMG00000019847	ENST00000378561.1:c.1153G>A	9.37:g.35106314C>T	ENSP00000367823:p.Val385Ile	Somatic		Capture	SOLID	Phase_I	35096314	NM_025182	B1AML4|B1AML5|D3DRN5|O60377|Q9BQ60|Q9HAI9|Q9P1Y9	Missense_Mutation	SNP	ENST00000378561.1	37	CCDS6578.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.296001	0.81025	.	.	ENSG00000005238	ENST00000378566;ENST00000322813;ENST00000378561;ENST00000378557;ENST00000378554	.	.	.	5.38	5.38	0.77491	.	0.057631	0.64402	D	0.000002	T	0.67636	0.2914	L	0.41415	1.275	0.58432	D	0.999991	D	0.89917	1.0	D	0.65323	0.934	T	0.63202	-0.6690	9	0.34782	T	0.22	-25.5577	18.939	0.92598	0.0:1.0:0.0:0.0	.	385	Q7L5A3	K1539_HUMAN	I	80;385;385;385;385	.	ENSP00000319897:V385I	V	-	1	0	KIAA1539	35096314	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.809000	0.47971	2.813000	0.96785	0.655000	0.94253	GTC		0.532	FAM214B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052261.1	NM_025182	
TRPM3	80036	hgsc.bcm.edu	37	9	73230930	73230930	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr9:73230930T>C	ENST00000377111.2	-	17	2627	c.2384A>G	c.(2383-2385)gAc>gGc	p.D795G	TRPM3_ENST00000408909.2_Missense_Mutation_p.D654G|TRPM3_ENST00000360823.2_Missense_Mutation_p.D657G|TRPM3_ENST00000423814.3_Missense_Mutation_p.D822G|TRPM3_ENST00000396285.1_Missense_Mutation_p.D642G|TRPM3_ENST00000377105.1_Missense_Mutation_p.D654G|TRPM3_ENST00000357533.2_Missense_Mutation_p.D799G|TRPM3_ENST00000396280.5_Missense_Mutation_p.D644G|TRPM3_ENST00000358082.3_Missense_Mutation_p.D657G|TRPM3_ENST00000396292.4_Missense_Mutation_p.D667G|TRPM3_ENST00000377110.3_Missense_Mutation_p.D795G|TRPM3_ENST00000377106.1_Missense_Mutation_p.D667G	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	820					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)	p.D667G(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ATAGGGCATGTCGTCTTTGTT	0.403																																					p.D795G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2384G	9						.						129.0	118.0	122.0					9																	73230930		2203	4300	6503	72420750	SO:0001583	missense	80036	exon17			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.2384A>G	9.37:g.73230930T>C	ENSP00000366315:p.Asp795Gly	Somatic		Capture	SOLID	Phase_I	72420750	NM_001007471	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37		.	.	.	.	.	.	.	.	.	.	T	17.35	3.366788	0.61513	.	.	ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	T;T;T;T;T;T;T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84	5.54	5.54	0.83059	.	0.156649	0.56097	D	0.000027	T	0.77772	0.4180	L	0.60455	1.87	0.51767	D	0.99993	B;B;P;B;B;P;B;B	0.37663	0.001;0.001;0.454;0.001;0.001;0.604;0.002;0.001	B;B;P;B;B;B;B;B	0.44946	0.005;0.003;0.465;0.003;0.002;0.22;0.005;0.001	T	0.80127	-0.1512	10	0.87932	D	0	-27.5931	15.8422	0.78857	0.0:0.0:0.0:1.0	.	795;795;785;799;657;654;767;642	Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.;.;.;.;.;.;.;.	G	795;795;667;657;654;799;654;642;667;657;822	ENSP00000366315:D795G;ENSP00000366314:D795G;ENSP00000366310:D667G;ENSP00000354066:D657G;ENSP00000366309:D654G;ENSP00000350140:D799G;ENSP00000386127:D654G;ENSP00000379581:D642G;ENSP00000379587:D667G;ENSP00000350791:D657G;ENSP00000389542:D822G	ENSP00000350140:D799G	D	-	2	0	TRPM3	72420750	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.525000	0.81892	2.323000	0.78572	0.528000	0.53228	GAC		0.403	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945	
GNA14	9630	hgsc.bcm.edu	37	9	80046325	80046325	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr9:80046325C>T	ENST00000341700.6	-	4	1018	c.505G>A	c.(505-507)Gtg>Atg	p.V169M	GNA14_ENST00000464095.1_5'UTR	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	169					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.V169M(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						TGGGTAGGCACGAATGATGGT	0.483																																					p.V169M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G505A	9						.						222.0	171.0	188.0					9																	80046325		2203	4300	6503	79236145	SO:0001583	missense	9630	exon4			AF105201	CCDS6657.1	9q21	2008-05-23			ENSG00000156049	ENSG00000156049			4382	protein-coding gene	gene with protein product		604397				10191087, 17620339	Standard	NM_004297		Approved		uc004aku.3	O95837	OTTHUMG00000020058	ENST00000341700.6:c.505G>A	9.37:g.80046325C>T	ENSP00000365807:p.Val169Met	Somatic		Capture	SOLID	Phase_I	79236145	NM_004297	B1ALW3	Missense_Mutation	SNP	ENST00000341700.6	37	CCDS6657.1	.	.	.	.	.	.	.	.	.	.	C	7.240	0.601101	0.13939	.	.	ENSG00000156049	ENST00000341700	D	0.88975	-2.45	5.42	5.42	0.78866	G protein alpha subunit, helical insertion (2);	0.216128	0.42420	D	0.000716	T	0.82162	0.4977	L	0.33339	1.005	0.39400	D	0.966569	B	0.17038	0.02	B	0.17098	0.017	T	0.78132	-0.2323	10	0.54805	T	0.06	.	8.4823	0.33049	0.1544:0.7675:0.0:0.078	.	169	O95837	GNA14_HUMAN	M	169	ENSP00000365807:V169M	ENSP00000365807:V169M	V	-	1	0	GNA14	79236145	0.066000	0.20996	0.888000	0.34837	0.003000	0.03518	0.261000	0.18442	2.705000	0.92388	0.655000	0.94253	GTG		0.483	GNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052759.1		
SLC28A3	64078	hgsc.bcm.edu	37	9	86900449	86900449	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr9:86900449G>T	ENST00000376238.4	-	14	1507	c.1458C>A	c.(1456-1458)tgC>tgA	p.C486*	SLC28A3_ENST00000537648.1_Nonsense_Mutation_p.C417*|RP11-380F14.2_ENST00000419815.1_RNA	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	486					pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)	p.C486*(1)		endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	AGATGTAGGAGCAGATTAGCT	0.428																																					p.C486X	Ovarian(106;425 1539 34835 42413 43572)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1458A	9						.						79.0	76.0	77.0					9																	86900449		2203	4300	6503	86090269	SO:0001587	stop_gained	64078	exon15			AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"""Solute carriers"""	16484	protein-coding gene	gene with protein product		608269	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"""			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.1458C>A	9.37:g.86900449G>T	ENSP00000365413:p.Cys486*	Somatic		Capture	SOLID	Phase_I	86090269	NM_022127	A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Nonsense_Mutation	SNP	ENST00000376238.4	37	CCDS6670.1	.	.	.	.	.	.	.	.	.	.	G	37	6.005365	0.97195	.	.	ENSG00000197506	ENST00000376238;ENST00000537648	.	.	.	5.74	3.49	0.39957	.	0.044623	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.2216	5.616	0.17432	0.462:0.0:0.538:0.0	.	.	.	.	X	486;417	.	ENSP00000365413:C486X	C	-	3	2	SLC28A3	86090269	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	1.201000	0.32259	1.219000	0.43474	0.561000	0.74099	TGC		0.428	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052874.1	NM_022127	
FANCC	2176	hgsc.bcm.edu	37	9	98011452	98011452	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr9:98011452A>G	ENST00000289081.3	-	2	376	c.122T>C	c.(121-123)tTc>tCc	p.F41S	FANCC_ENST00000375305.1_Missense_Mutation_p.F41S	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	41					DNA repair (GO:0006281)|germ cell development (GO:0007281)|myeloid cell homeostasis (GO:0002262)|nucleotide-excision repair (GO:0006289)|protein complex assembly (GO:0006461)|removal of superoxide radicals (GO:0019430)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.F41S(1)		kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				GAACTCCTGGAACTGAGCCAC	0.428			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.F41S		yes	Rec		Fanconi anaemia C	9	9q22.3	2176	"""Fanconi anemia, complementation group C"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T122C	9						.						116.0	109.0	112.0					9																	98011452		2203	4300	6503	97051273	SO:0001583	missense	2176	exon2	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	BC006303	CCDS35071.1, CCDS75861.1	9q22.3	2014-09-17			ENSG00000158169	ENSG00000158169		"""Fanconi anemia, complementation groups"""	3584	protein-coding gene	gene with protein product		613899		FACC		1303234	Standard	NM_001243743		Approved	FAC, FA3	uc004avh.3	Q00597	OTTHUMG00000020279	ENST00000289081.3:c.122T>C	9.37:g.98011452A>G	ENSP00000289081:p.Phe41Ser	Somatic		Capture	SOLID	Phase_I	97051273	NM_000136	B1ALR8	Missense_Mutation	SNP	ENST00000289081.3	37	CCDS35071.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.011295	0.75046	.	.	ENSG00000158169	ENST00000289081;ENST00000375305;ENST00000433829	T;T;T	0.54479	0.57;0.57;0.57	5.13	5.13	0.70059	.	0.062040	0.64402	D	0.000003	T	0.67767	0.2928	L	0.54323	1.7	0.34967	D	0.752722	D;D	0.76494	0.999;0.999	D;D	0.72338	0.977;0.958	T	0.77707	-0.2487	10	0.87932	D	0	-21.1415	15.4	0.74830	1.0:0.0:0.0:0.0	.	41;41	B1ALR7;Q00597	.;FANCC_HUMAN	S	41	ENSP00000289081:F41S;ENSP00000364454:F41S;ENSP00000406908:F41S	ENSP00000289081:F41S	F	-	2	0	FANCC	97051273	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	6.219000	0.72231	2.281000	0.76405	0.528000	0.53228	TTC		0.428	FANCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053219.1	NM_000136	
PTCH1	5727	hgsc.bcm.edu	37	9	98238392	98238392	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr9:98238392G>A	ENST00000331920.6	-	12	1951	c.1652C>T	c.(1651-1653)aCg>aTg	p.T551M	PTCH1_ENST00000430669.2_Missense_Mutation_p.T485M|PTCH1_ENST00000421141.1_Missense_Mutation_p.T400M|PTCH1_ENST00000429896.2_Missense_Mutation_p.T400M|PTCH1_ENST00000375274.2_Missense_Mutation_p.T550M|PTCH1_ENST00000437951.1_Missense_Mutation_p.T485M|PTCH1_ENST00000418258.1_Missense_Mutation_p.T400M	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	551	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.T551M(2)|p.T550M(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GCTGATGGACGTGAGGGCCAC	0.587																																					p.T400M												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C1199T	9	GRCh37	CI973735	PTCH1	I		.						83.0	61.0	69.0					9																	98238392		2203	4300	6503	97278213	SO:0001583	missense	5727	exon12			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.1652C>T	9.37:g.98238392G>A	ENSP00000332353:p.Thr551Met	Somatic		Capture	SOLID	Phase_I	97278213	NM_001083605	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	G	33	5.276225	0.95459	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274;ENST00000375271	D;D;D;D;D;D;D;D	0.94417	-3.42;-3.42;-3.42;-3.42;-3.42;-3.42;-3.42;-3.42	5.63	5.63	0.86233	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.97729	0.9255	M	0.87269	2.87	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.993;0.993;0.994	D	0.97988	1.0353	10	0.87932	D	0	-21.7553	20.0401	0.97581	0.0:0.0:1.0:0.0	.	400;485;550;551	Q13635-4;Q13635-3;Q13635-2;Q13635	.;.;.;PTC1_HUMAN	M	551;485;400;400;485;400;550;216	ENSP00000332353:T551M;ENSP00000389744:T485M;ENSP00000399981:T400M;ENSP00000396135:T400M;ENSP00000410287:T485M;ENSP00000414823:T400M;ENSP00000364423:T550M;ENSP00000364420:T216M	ENSP00000332353:T551M	T	-	2	0	PTCH1	97278213	1.000000	0.71417	0.981000	0.43875	0.991000	0.79684	9.420000	0.97426	2.805000	0.96524	0.655000	0.94253	ACG		0.587	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264	
ANGPTL2	23452	hgsc.bcm.edu	37	9	129854110	129854110	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr9:129854110C>T	ENST00000373425.3	-	4	1738	c.1121G>A	c.(1120-1122)gGc>gAc	p.G374D	RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000424082.2_Intron|ANGPTL2_ENST00000373417.1_Missense_Mutation_p.G72D|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000394022.3_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	374	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)	p.G374D(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						GACTTTGCGGCCGGACCAGTC	0.562																																					p.G374D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1121A	9						.						187.0	188.0	188.0					9																	129854110		2203	4300	6503	128893931	SO:0001583	missense	23452	exon4			AF125175	CCDS6868.1	9q34	2013-02-06			ENSG00000136859	ENSG00000136859		"""Fibrinogen C domain containing"""	490	protein-coding gene	gene with protein product		605001				10473614	Standard	NM_012098		Approved	ARP2, HARP	uc004bqr.1	Q9UKU9	OTTHUMG00000020695	ENST00000373425.3:c.1121G>A	9.37:g.129854110C>T	ENSP00000362524:p.Gly374Asp	Somatic		Capture	SOLID	Phase_I	128893931	NM_012098	Q5JT58|Q8NCH7	Missense_Mutation	SNP	ENST00000373425.3	37	CCDS6868.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.632119	0.87660	.	.	ENSG00000136859	ENST00000373425;ENST00000373417	D;D	0.82081	-1.57;-1.57	5.2	5.2	0.72013	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.84511	0.5488	L	0.56124	1.755	0.80722	D	1	B	0.24533	0.105	B	0.37943	0.261	T	0.81143	-0.1067	10	0.40728	T	0.16	.	19.1061	0.93296	0.0:1.0:0.0:0.0	.	374	Q9UKU9	ANGL2_HUMAN	D	374;72	ENSP00000362524:G374D;ENSP00000362516:G72D	ENSP00000362516:G72D	G	-	2	0	ANGPTL2	128893931	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.574000	0.86865	0.655000	0.94253	GGC		0.562	ANGPTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054129.1	NM_012098	
ITGBL1	9358	hgsc.bcm.edu	37	13	102105189	102105189	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr13:102105189G>A	ENST00000376180.3	+	1	224	c.5G>A	c.(4-6)cGt>cAt	p.R2H	ITGBL1_ENST00000545560.2_5'UTR	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	2					cell adhesion (GO:0007155)	extracellular region (GO:0005576)		p.R2H(1)		breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTCAGCATGCGTCCCCCAGGC	0.612																																					p.R2H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5A	13						.						159.0	135.0	143.0					13																	102105189		2203	4300	6503	100903190	SO:0001583	missense	9358	exon1			AF072752	CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1	13q33	2008-07-18			ENSG00000198542	ENSG00000198542			6164	protein-coding gene	gene with protein product	"""ten integrin EGF-like repeat domains protein"", ""ITGBL1, integrin beta-like 1"""	604234				10051402	Standard	NM_004791		Approved	TIED, OSCP	uc001vpb.4	O95965	OTTHUMG00000017296	ENST00000376180.3:c.5G>A	13.37:g.102105189G>A	ENSP00000365351:p.Arg2His	Somatic		Capture	SOLID	Phase_I	100903190	NM_004791	A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	Missense_Mutation	SNP	ENST00000376180.3	37	CCDS9499.1	.	.	.	.	.	.	.	.	.	.	G	5.491	0.275638	0.10403	.	.	ENSG00000198542	ENST00000376180	T	0.46063	0.88	5.53	-3.17	0.05202	.	0.512028	0.21362	N	0.075781	T	0.08670	0.0215	N	0.01267	-0.92	0.36929	D	0.891811	B	0.02656	0.0	B	0.01281	0.0	T	0.25328	-1.0135	10	0.07175	T	0.84	.	0.2121	0.00157	0.2846:0.1638:0.2026:0.349	.	2	O95965	ITGBL_HUMAN	H	2	ENSP00000365351:R2H	ENSP00000365351:R2H	R	+	2	0	ITGBL1	100903190	0.000000	0.05858	0.768000	0.31515	0.576000	0.36127	-0.954000	0.03873	-0.533000	0.06323	-1.119000	0.02030	CGT		0.612	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045669.2	NM_004791	
ATP12A	479	hgsc.bcm.edu	37	13	25264785	25264785	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr13:25264785G>A	ENST00000381946.3	+	7	892	c.725G>A	c.(724-726)cGc>cAc	p.R242H	ATP12A_ENST00000218548.6_Missense_Mutation_p.R242H			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	242					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.R242H(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		CCCCAGCCCCGCTCCTCTGAG	0.512																																					p.R242H	Pancreas(156;1582 1935 18898 22665 26498)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G725A	13						.						131.0	147.0	141.0					13																	25264785		2203	4300	6503	24162785	SO:0001583	missense	479	exon7			L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.725G>A	13.37:g.25264785G>A	ENSP00000371372:p.Arg242His	Somatic		Capture	SOLID	Phase_I	24162785	NM_001185085	Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	32	5.114233	0.94339	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.91180	-2.8;-2.8	4.98	4.98	0.66077	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.97291	0.9114	H	0.98407	4.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.98563	1.0642	10	0.87932	D	0	.	15.7902	0.78350	0.0:0.0:1.0:0.0	.	242;242	P54707-2;P54707	.;AT12A_HUMAN	H	242	ENSP00000218548:R242H;ENSP00000371372:R242H	ENSP00000218548:R242H	R	+	2	0	ATP12A	24162785	1.000000	0.71417	0.972000	0.41901	0.993000	0.82548	9.324000	0.96373	2.581000	0.87130	0.655000	0.94253	CGC		0.512	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676	
RNF17	56163	hgsc.bcm.edu	37	13	25418896	25418896	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr13:25418896C>T	ENST00000255324.5	+	21	2990	c.2938C>T	c.(2938-2940)Cga>Tga	p.R980*	RNF17_ENST00000381921.1_Nonsense_Mutation_p.R980*|RNF17_ENST00000339524.3_Nonsense_Mutation_p.R32*	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	980	Tudor 2. {ECO:0000255|PROSITE- ProRule:PRU00211}.				multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.R980*(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AAATCAGTGGCGAAGAGGCCA	0.353																																					p.R980X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2938T	13						.						104.0	104.0	104.0					13																	25418896		2203	4300	6503	24316896	SO:0001587	stop_gained	56163	exon21			AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.2938C>T	13.37:g.25418896C>T	ENSP00000255324:p.Arg980*	Somatic		Capture	SOLID	Phase_I	24316896	NM_001184993	Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Nonsense_Mutation	SNP	ENST00000255324.5	37	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	C	42	9.284094	0.99125	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000418120;ENST00000339524	.	.	.	4.86	4.86	0.63082	.	0.436168	0.21480	N	0.073858	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-0.5959	15.0001	0.71464	0.0:1.0:0.0:0.0	.	.	.	.	X	980;980;839;304;32	.	ENSP00000255324:R980X	R	+	1	2	RNF17	24316896	0.991000	0.36638	1.000000	0.80357	0.998000	0.95712	1.397000	0.34543	2.520000	0.84964	0.591000	0.81541	CGA		0.353	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994	
N4BP2L1	90634	hgsc.bcm.edu	37	13	32977143	32977143	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr13:32977143G>T	ENST00000380133.2	-	5	718	c.668C>A	c.(667-669)gCc>gAc	p.A223D	N4BP2L1_ENST00000459716.1_5'UTR|N4BP2L1_ENST00000380130.2_Missense_Mutation_p.A223D|N4BP2L1_ENST00000380139.4_3'UTR|N4BP2L1_ENST00000530622.2_Missense_Mutation_p.A117D			Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1	223								p.A223D(1)		large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		TCCACCGTGGGCCCTCCGGTT	0.468																																					p.A223D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C668A	13						.						148.0	141.0	143.0					13																	32977143		2203	4300	6503	31875143	SO:0001583	missense	90634	exon5			U50527	CCDS9345.2, CCDS41877.1	13q13.1	2008-11-05			ENSG00000139597	ENSG00000139597			25037	protein-coding gene	gene with protein product	"""hypothetical gene CG018"""					8812419	Standard	NM_052818		Approved	CG018	uc001uuc.3	Q5TBK1	OTTHUMG00000016697	ENST00000380133.2:c.668C>A	13.37:g.32977143G>T	ENSP00000369476:p.Ala223Asp	Somatic		Capture	SOLID	Phase_I	31875143	NM_052818	A4QN21|Q5TBK0	Missense_Mutation	SNP	ENST00000380133.2	37	CCDS9345.2	.	.	.	.	.	.	.	.	.	.	G	14.57	2.575575	0.45902	.	.	ENSG00000139597	ENST00000380130;ENST00000530622;ENST00000380133	.	.	.	5.31	2.47	0.30058	.	0.747332	0.11374	N	0.570514	T	0.28101	0.0693	L	0.29908	0.895	0.09310	N	1	B	0.30482	0.281	B	0.24701	0.055	T	0.16541	-1.0399	9	0.48119	T	0.1	.	6.8943	0.24247	0.1419:0.2792:0.5789:0.0	.	223	Q5TBK1	N42L1_HUMAN	D	223;117;223	.	ENSP00000369473:A223D	A	-	2	0	N4BP2L1	31875143	0.215000	0.23574	0.303000	0.25071	0.337000	0.28794	1.591000	0.36665	0.666000	0.31087	0.655000	0.94253	GCC		0.468	N4BP2L1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044412.2	NM_052818	
PROSER1	80209	hgsc.bcm.edu	37	13	39587542	39587542	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr13:39587542G>T	ENST00000352251.3	-	11	2680	c.1847C>A	c.(1846-1848)cCc>cAc	p.P616H	PROSER1_ENST00000484434.3_Intron|PROSER1_ENST00000350125.3_Missense_Mutation_p.P594H	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	616	Ser-rich.							p.P616H(1)									GAAGGCCGAGGGAGTAGGACT	0.517																																					p.P594H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1781A	13						.						155.0	164.0	161.0					13																	39587542		2203	4300	6503	38485542	SO:0001583	missense	80209	exon10			AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 23"""	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.1847C>A	13.37:g.39587542G>T	ENSP00000332034:p.Pro616His	Somatic		Capture	SOLID	Phase_I	38485542	NM_170719	A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Missense_Mutation	SNP	ENST00000352251.3	37	CCDS9368.2	.	.	.	.	.	.	.	.	.	.	G	20.6	4.017972	0.75275	.	.	ENSG00000120685	ENST00000352251;ENST00000350125	T;T	0.49139	0.79;0.79	5.01	5.01	0.66863	.	.	.	.	.	T	0.54303	0.1850	L	0.32530	0.975	0.48452	D	0.999658	D;D	0.89917	1.0;0.999	D;D	0.78314	0.991;0.939	T	0.49588	-0.8924	8	.	.	.	-19.3899	11.1755	0.48596	0.0953:0.0:0.9047:0.0	.	594;616	A6NJ97;Q86XN7	.;PRSR1_HUMAN	H	616;594	ENSP00000332034:P616H;ENSP00000339123:P594H	.	P	-	2	0	PROSER1	38485542	1.000000	0.71417	0.985000	0.45067	0.864000	0.49448	6.068000	0.71201	2.469000	0.83416	0.561000	0.74099	CCC		0.517	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044607.5	NM_025138	
UTP14C	9724	hgsc.bcm.edu	37	13	52604930	52604930	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr13:52604930C>T	ENST00000521776.2	+	2	2723	c.1990C>T	c.(1990-1992)Cca>Tca	p.P664S		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	664					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)		p.P664S(1)		breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		TAAGAATTTGCCAAATGTGAT	0.493																																					p.P664S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1990T	13						.						155.0	158.0	157.0					13																	52604930		2203	4300	6503	51502931	SO:0001583	missense	9724	exon2			D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"""KIAA0266"""	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.1990C>T	13.37:g.52604930C>T	ENSP00000428619:p.Pro664Ser	Somatic		Capture	SOLID	Phase_I	51502931	NM_021645	Q5FWG3|Q92555	Missense_Mutation	SNP	ENST00000521776.2	37	CCDS31978.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.147376	0.57151	.	.	ENSG00000253797	ENST00000521776	T	0.15487	2.42	2.88	0.939	0.19506	.	0.096550	0.64402	D	0.000001	T	0.28896	0.0717	M	0.61703	1.905	0.52099	D	0.99994	P	0.36647	0.563	P	0.56088	0.791	T	0.04053	-1.0981	9	.	.	.	-9.2216	5.3262	0.15908	0.0:0.6587:0.2098:0.1315	.	664	Q5TAP6	UT14C_HUMAN	S	664	ENSP00000428619:P664S	.	P	+	1	0	UTP14C	51502931	0.999000	0.42202	0.982000	0.44146	0.943000	0.58893	3.029000	0.49712	0.060000	0.16281	0.442000	0.29010	CCA		0.493	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2	NM_021645	
LMO7	4008	hgsc.bcm.edu	37	13	76378462	76378462	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr13:76378462G>T	ENST00000341547.4	+	9	2115	c.855G>T	c.(853-855)aaG>aaT	p.K285N	LMO7_ENST00000321797.8_5'UTR|LMO7_ENST00000526202.1_Missense_Mutation_p.K194N|LMO7_ENST00000357063.3_Missense_Mutation_p.K285N|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000377534.3_Missense_Mutation_p.K285N|RP11-29G8.3_ENST00000563635.1_RNA	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN	LIM domain 7	285					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K285N(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TTACATTTAAGATGCAGGATT	0.373																																					p.K285N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G855T	13						.						95.0	101.0	99.0					13																	76378462		2203	4300	6503	75276463	SO:0001583	missense	4008	exon9			AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000341547.4:c.855G>T	13.37:g.76378462G>T	ENSP00000342112:p.Lys285Asn	Somatic		Capture	SOLID	Phase_I	75276463	NM_005358	E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000341547.4	37	CCDS9454.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.09|14.09	2.430558|2.430558	0.43122|0.43122	.|.	.|.	ENSG00000136153|ENSG00000136153	ENST00000447038|ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000526202	.|T;T;T;T;T	.|0.42131	.|0.98;0.98;0.98;0.98;0.98	6.08|6.08	2.19|2.19	0.27852|0.27852	.|.	.|0.200779	.|0.45361	.|D	.|0.000377	T|T	0.56978|0.56978	0.2022|0.2022	M|M	0.66939|0.66939	2.045|2.045	0.43457|0.43457	D|D	0.995653|0.995653	.|P;D;D	.|0.64830	.|0.914;0.994;0.982	.|P;D;P	.|0.66602	.|0.754;0.945;0.792	T|T	0.56245|0.56245	-0.8011|-0.8011	5|10	.|0.87932	.|D	.|0	-21.2643|-21.2643	10.2832|10.2832	0.43552|0.43552	0.6415:0.0:0.3585:0.0|0.6415:0.0:0.3585:0.0	.|.	.|194;285;233	.|E9PMS6;Q8WWI1-3;F8J2B5	.|.;.;.	Y|N	3|285;285;285;233;194	.|ENSP00000342112:K285N;ENSP00000349571:K285N;ENSP00000366757:K285N;ENSP00000366719:K233N;ENSP00000431129:K194N	.|ENSP00000342112:K285N	D|K	+|+	1|3	0|2	LMO7|LMO7	75276463|75276463	0.994000|0.994000	0.37717|0.37717	0.989000|0.989000	0.46669|0.46669	0.345000|0.345000	0.29048|0.29048	0.486000|0.486000	0.22340|0.22340	0.136000|0.136000	0.18733|0.18733	-0.345000|-0.345000	0.07892|0.07892	GAT|AAG		0.373	LMO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045297.1	NM_005358	
ATP11A	23250	hgsc.bcm.edu	37	13	113439491	113439491	+	Missense_Mutation	SNP	G	G	A	rs374875666		TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr13:113439491G>A	ENST00000487903.1	+	2	170	c.82G>A	c.(82-84)Gtg>Atg	p.V28M	ATP11A_ENST00000375630.2_Missense_Mutation_p.V28M|ATP11A_ENST00000283558.8_Missense_Mutation_p.V28M|ATP11A_ENST00000375645.3_Missense_Mutation_p.V28M			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	28					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.V28M(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				GACCATCTACGTGGGACACAG	0.567											OREG0003855	type=REGULATORY REGION|Gene=ATP11A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.V28M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G82A	13						.	G	MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	148.0	138.0	141.0		82,82	4.8	1.0	13		141	0,8600		0,0,4300	no	missense,missense	ATP11A	NM_015205.2,NM_032189.3	21,21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	28/1135,28/1192	113439491	1,13005	2203	4300	6503	112487492	SO:0001583	missense	23250	exon2			AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.82G>A	13.37:g.113439491G>A	ENSP00000420387:p.Val28Met	Somatic	1450	Capture	SOLID	Phase_I	112487492	NM_015205	Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	37	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.438073	0.83885	2.27E-4	0.0	ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	4.83	4.83	0.62350	.	0.181657	0.48767	D	0.000174	T	0.74045	0.3665	M	0.91920	3.255	0.45502	D	0.998468	D;D	0.55172	0.966;0.97	P;P	0.55667	0.721;0.781	T	0.81540	-0.0886	10	0.66056	D	0.02	.	17.0576	0.86539	0.0:0.0:1.0:0.0	.	28;28	E9PEJ6;P98196	.;AT11A_HUMAN	M	28	ENSP00000420387:V28M;ENSP00000364781:V28M;ENSP00000364796:V28M;ENSP00000283558:V28M	ENSP00000283558:V28M	V	+	1	0	ATP11A	112487492	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.174000	0.71943	2.390000	0.81377	0.643000	0.83706	GTG		0.567	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205	
DNMBP	23268	hgsc.bcm.edu	37	10	101639642	101639642	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr10:101639642C>G	ENST00000324109.4	-	16	4565	c.4474G>C	c.(4474-4476)Gga>Cga	p.G1492R	DNMBP_ENST00000342239.3_Missense_Mutation_p.G1516R|DNMBP_ENST00000540316.1_Missense_Mutation_p.G428R|DNMBP_ENST00000543621.1_Missense_Mutation_p.G738R	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1492					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G1492R(1)		central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CTTGCACATCCTTTGACGAGG	0.562																																					p.G1492R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4474C	10						.						159.0	139.0	145.0					10																	101639642		2203	4300	6503	101629632	SO:0001583	missense	23268	exon16			AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.4474G>C	10.37:g.101639642C>G	ENSP00000315659:p.Gly1492Arg	Somatic		Capture	SOLID	Phase_I	101629632	NM_015221	Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	37	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.823020	0.71028	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621;ENST00000540316	T;T;T;T	0.38401	2.32;2.41;2.12;1.14	5.49	5.49	0.81192	.	0.468178	0.18030	N	0.153960	T	0.33702	0.0872	L	0.29908	0.895	0.22199	N	0.999298	P;P;P	0.43477	0.808;0.741;0.808	B;B;B	0.44108	0.362;0.441;0.362	T	0.16837	-1.0389	10	0.23302	T	0.38	-5.3611	17.5899	0.87993	0.0:1.0:0.0:0.0	.	1492;738;1516	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	R	1516;1492;738;738;428	ENSP00000344914:G1516R;ENSP00000315659:G1492R;ENSP00000443657:G738R;ENSP00000443573:G428R	ENSP00000315659:G1492R	G	-	1	0	DNMBP	101629632	0.457000	0.25752	0.195000	0.23364	0.208000	0.24298	2.803000	0.47924	2.583000	0.87209	0.561000	0.74099	GGA		0.562	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221	
SCD	6319	hgsc.bcm.edu	37	10	102116516	102116516	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr10:102116516C>T	ENST00000370355.2	+	5	1256	c.875C>T	c.(874-876)gCt>gTt	p.A292V		NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)	292					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)	p.A292V(1)		endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		TCACTTGGAGCTGTGGGTAAG	0.473																																					p.A292V	Colon(67;260 1459 9574 11663)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C875T	10						.						37.0	34.0	35.0					10																	102116516		2203	4300	6503	102106506	SO:0001583	missense	6319	exon5			AF097514	CCDS7493.1	10q23-q24	2013-01-25			ENSG00000099194	ENSG00000099194	1.14.19.1	"""Fatty acid desaturases"""	10571	protein-coding gene	gene with protein product	"""acyl-CoA desaturase"", ""fatty acid desaturase"", ""delta-9-desaturase"""	604031	"""stearoyl-CoA desaturase opposite strand"""	SCDOS		7909540, 10229681	Standard	NM_005063		Approved	FADS5	uc001kqy.3	O00767	OTTHUMG00000018906	ENST00000370355.2:c.875C>T	10.37:g.102116516C>T	ENSP00000359380:p.Ala292Val	Somatic		Capture	SOLID	Phase_I	102106506	NM_005063	B2R5U0|D3DR68|Q16150|Q53GR9|Q5W037|Q5W038|Q6GSS4|Q96KF6|Q9BS07|Q9Y695	Missense_Mutation	SNP	ENST00000370355.2	37	CCDS7493.1	.	.	.	.	.	.	.	.	.	.	C	34	5.331595	0.95733	.	.	ENSG00000099194	ENST00000370355	T	0.17528	2.27	4.95	4.95	0.65309	Fatty acid desaturase, type 1 (1);	0.000000	0.64402	D	0.000005	T	0.44393	0.1291	M	0.85777	2.775	0.80722	D	1	D	0.59357	0.985	P	0.59825	0.864	T	0.49634	-0.8919	9	.	.	.	-2.3165	18.542	0.91031	0.0:1.0:0.0:0.0	.	292	O00767	ACOD_HUMAN	V	292	ENSP00000359380:A292V	.	A	+	2	0	SCD	102106506	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	4.674000	0.61612	2.427000	0.82271	0.561000	0.74099	GCT		0.473	SCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049857.2	NM_005063	
SFXN2	118980	hgsc.bcm.edu	37	10	104489553	104489553	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr10:104489553T>C	ENST00000369893.5	+	6	748	c.581T>C	c.(580-582)aTg>aCg	p.M194T		NM_178858.4	NP_849189.1	Q96NB2	SFXN2_HUMAN	sideroflexin 2	194				QMALSYFTATTTAVATAVGMNMLTKKAPPLVGRWVPFAAVA AANCVNIPMMRQQELIKGI -> KRRPWWAAGCPLPLWLRL TVSISP (in Ref. 4). {ECO:0000305}.	iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)	p.M194T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|prostate(1)	13		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		AATATCCCCATGATGCGACAG	0.557											OREG0020485	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.M194T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T581C	10						.						71.0	75.0	74.0					10																	104489553		2203	4300	6503	104479543	SO:0001583	missense	118980	exon6			AF462052	CCDS7539.1	10q24.32	2006-03-13			ENSG00000156398	ENSG00000156398		"""Sideroflexins"""	16086	protein-coding gene	gene with protein product		615570					Standard	NM_178858		Approved		uc001kwb.2	Q96NB2	OTTHUMG00000018967	ENST00000369893.5:c.581T>C	10.37:g.104489553T>C	ENSP00000358909:p.Met194Thr	Somatic	1382	Capture	SOLID	Phase_I	104479543	NM_178858	Q5JSM6	Missense_Mutation	SNP	ENST00000369893.5	37	CCDS7539.1	.	.	.	.	.	.	.	.	.	.	T	17.38	3.375332	0.61735	.	.	ENSG00000156398	ENST00000369893	T	0.30714	1.52	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.40645	0.1125	M	0.79123	2.44	0.80722	D	1	B	0.21452	0.056	B	0.25405	0.06	T	0.35201	-0.9798	10	0.87932	D	0	-7.664	15.9631	0.79945	0.0:0.0:0.0:1.0	.	194	Q96NB2	SFXN2_HUMAN	T	194	ENSP00000358909:M194T	ENSP00000358909:M194T	M	+	2	0	SFXN2	104479543	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	7.958000	0.87877	2.161000	0.67846	0.533000	0.62120	ATG		0.557	SFXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050096.2	XM_058359	
NT5C2	22978	hgsc.bcm.edu	37	10	104852956	104852956	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr10:104852956G>A	ENST00000404739.3	-	13	1122	c.1099C>T	c.(1099-1101)Cga>Tga	p.R367*	NT5C2_ENST00000423468.2_Nonsense_Mutation_p.R338*|NT5C2_ENST00000369857.4_5'UTR|NT5C2_ENST00000343289.5_Nonsense_Mutation_p.R367*			P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	367					cell death (GO:0008219)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|nucleobase-containing small molecule metabolic process (GO:0055086)|phosphorylation (GO:0016310)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleoside phosphotransferase activity (GO:0050146)|nucleotide binding (GO:0000166)	p.R367*(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	AAAAAAGTTCGCCACCCTTGC	0.393																																					p.R367X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1099T	10						.						110.0	105.0	107.0					10																	104852956		2203	4300	6503	104842946	SO:0001587	stop_gained	22978	exon15			D38524	CCDS7544.1	10q24.32	2014-03-03	2002-04-18	2002-04-19	ENSG00000076685	ENSG00000076685			8022	protein-coding gene	gene with protein product	"""purine 5' nucleotidase"""	600417	"""5'-nucleotidase (purine), cytosolic type B"""	NT5B		7999131, 24482476	Standard	NM_012229		Approved	PNT5, GMP, cN-II, SPG65	uc001kwq.3	P49902	OTTHUMG00000018981	ENST00000404739.3:c.1099C>T	10.37:g.104852956G>A	ENSP00000383960:p.Arg367*	Somatic		Capture	SOLID	Phase_I	104842946	NM_012229	B7Z382|D3DR91|Q5JUV5	Nonsense_Mutation	SNP	ENST00000404739.3	37	CCDS7544.1	.	.	.	.	.	.	.	.	.	.	G	36	5.782005	0.96937	.	.	ENSG00000076685	ENST00000343289;ENST00000404739;ENST00000423468;ENST00000421281	.	.	.	5.76	3.74	0.42951	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.6316	14.4679	0.67497	0.0:0.0:0.5649:0.4351	.	.	.	.	X	367;367;338;67	.	ENSP00000339479:R367X	R	-	1	2	NT5C2	104842946	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.631000	0.46502	1.503000	0.48686	0.655000	0.94253	CGA		0.393	NT5C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050121.1	NM_012229	
CUBN	8029	hgsc.bcm.edu	37	10	17127690	17127690	+	Silent	SNP	C	C	T	rs148107237	byFrequency	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr10:17127690C>T	ENST00000377833.4	-	16	2081	c.2016G>A	c.(2014-2016)ccG>ccA	p.P672P		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	672	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.P672P(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TAGTCTGGAGCGGTGGGACAG	0.453													C|||	3	0.000599042	0.0	0.0	5008	,	,		16169	0.003		0.0	False		,,,				2504	0.0				p.P672P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2016A	10						.	C		0,4406		0,0,2203	89.0	92.0	91.0		2016	-11.7	0.4	10	dbSNP_134	91	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	CUBN	NM_001081.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		672/3624	17127690	2,13004	2203	4300	6503	17167696	SO:0001819	synonymous_variant	8029	exon16			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.2016G>A	10.37:g.17127690C>T		Somatic		Capture	SOLID	Phase_I	17167696	NM_001081	B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	CCDS7113.1																																																																																				0.453	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081	
CSGALNACT2	55454	hgsc.bcm.edu	37	10	43650877	43650877	+	Missense_Mutation	SNP	C	C	T	rs368373201		TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr10:43650877C>T	ENST00000374466.3	+	2	615	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.R94W	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	94					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)	p.R94W(1)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TGAGAAGATGCGGTCACTGCA	0.428																																					p.R94W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C280T	10						.	A	TRP/ARG	0,4406		0,0,2203	62.0	53.0	56.0		280	5.6	1.0	10		56	1,8599		0,1,4299	no	missense	CSGALNACT2	NM_018590.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	94/543	43650877	1,13005	2203	4300	6503	42970883	SO:0001583	missense	55454	exon2			AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"""Beta 4-glycosyltransferases"""	24292	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"""					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.280C>T	10.37:g.43650877C>T	ENSP00000363590:p.Arg94Trp	Somatic		Capture	SOLID	Phase_I	42970883	NM_018590	B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Missense_Mutation	SNP	ENST00000374466.3	37	CCDS7201.1	.	.	.	.	.	.	.	.	.	.	A	33	5.252355	0.95336	0.0	1.16E-4	ENSG00000169826	ENST00000374466;ENST00000374464	T;T	0.78481	2.39;-1.18	5.56	5.56	0.83823	.	0.122893	0.64402	D	0.000001	D	0.83677	0.5306	L	0.55481	1.735	0.43857	D	0.996457	D;D	0.71674	0.995;0.998	P;P	0.62491	0.865;0.903	D	0.84506	0.0619	10	0.87932	D	0	-12.2648	13.2048	0.59788	0.8669:0.1331:0.0:0.0	.	94;94	Q8N6G5;Q8N6G5-2	CGAT2_HUMAN;.	W	94	ENSP00000363590:R94W;ENSP00000363588:R94W	ENSP00000363588:R94W	R	+	1	2	CSGALNACT2	42970883	1.000000	0.71417	0.995000	0.50966	0.804000	0.45430	5.736000	0.68597	1.051000	0.40369	-0.264000	0.10439	CGG		0.428	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590	
OGDHL	55753	hgsc.bcm.edu	37	10	50955203	50955203	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr10:50955203G>A	ENST00000374103.4	-	9	1124	c.1039C>T	c.(1039-1041)Cgc>Tgc	p.R347C	OGDHL_ENST00000419399.1_Missense_Mutation_p.R290C|OGDHL_ENST00000432695.1_Missense_Mutation_p.R138C	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	347					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.R347C(2)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TTGGTGACGCGGTTGATCCTC	0.587																																					p.R290C												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C868T	10						.						286.0	238.0	254.0					10																	50955203		2203	4300	6503	50625209	SO:0001583	missense	55753	exon8			AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.1039C>T	10.37:g.50955203G>A	ENSP00000363216:p.Arg347Cys	Somatic		Capture	SOLID	Phase_I	50625209	NM_001143996	A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.098254	0.76870	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	D;D;D	0.96491	-4.03;-4.03;-4.03	5.79	4.87	0.63330	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.98245	0.9419	M	0.89785	3.06	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.67725	0.921;0.921;0.953	D	0.99087	1.0839	10	0.87932	D	0	.	15.1879	0.73020	0.0:0.0:0.7441:0.2559	.	290;138;347	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	C	347;290;138	ENSP00000363216:R347C;ENSP00000401356:R290C;ENSP00000390240:R138C	ENSP00000363216:R347C	R	-	1	0	OGDHL	50625209	1.000000	0.71417	0.981000	0.43875	0.993000	0.82548	5.299000	0.65716	1.426000	0.47256	0.655000	0.94253	CGC		0.587	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245	
PBLD	64081	hgsc.bcm.edu	37	10	70048302	70048302	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr10:70048302G>T	ENST00000358769.2	-	8	831	c.629C>A	c.(628-630)gCa>gAa	p.A210E	PBLD_ENST00000309049.4_Missense_Mutation_p.A210E|PBLD_ENST00000432941.1_Missense_Mutation_p.A210E|PBLD_ENST00000495025.2_Missense_Mutation_p.A210E|PBLD_ENST00000336578.1_Missense_Mutation_p.A177E	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	210					biosynthetic process (GO:0009058)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein import into nucleus (GO:0060392)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	isomerase activity (GO:0016853)	p.A210E(1)		endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						AAAGTCAAATGCTTGGGTCTG	0.473																																					p.A210E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C629A	10						.						92.0	89.0	90.0					10																	70048302		2203	4300	6503	69718308	SO:0001583	missense	64081	exon8			AK027673	CCDS7277.2, CCDS44413.1	10q21.3	2006-11-27			ENSG00000108187	ENSG00000108187			23301	protein-coding gene	gene with protein product	MAWD binding protein	612189				11355021	Standard	XM_005270028		Approved	MAWBP, MAWDBP, FLJ14767	uc001jns.1	P30039	OTTHUMG00000073949	ENST00000358769.2:c.629C>A	10.37:g.70048302G>T	ENSP00000351619:p.Ala210Glu	Somatic		Capture	SOLID	Phase_I	69718308	NM_001033083	A8MZJ3|C9JIM0|Q9HCC2	Missense_Mutation	SNP	ENST00000358769.2	37	CCDS7277.2	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.234801	0.00277	.	.	ENSG00000108187	ENST00000336578;ENST00000358769;ENST00000309049;ENST00000432941	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	5.01	0.661	0.17874	.	0.657000	0.13471	N	0.385436	T	0.12008	0.0292	N	0.12443	0.215	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.15052	0.012;0.005	T	0.35425	-0.9789	10	0.02654	T	1	0.0368	5.4627	0.16626	0.0833:0.3538:0.4474:0.1155	.	210;210	C9JIM0;P30039	.;PBLD_HUMAN	E	177;210;210;210	ENSP00000338041:A177E;ENSP00000351619:A210E;ENSP00000308466:A210E;ENSP00000395534:A210E	ENSP00000308466:A210E	A	-	2	0	PBLD	69718308	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	0.004000	0.13106	0.226000	0.20979	0.563000	0.77884	GCA		0.473	PBLD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048314.1	NM_022129	
ADAMTS14	140766	hgsc.bcm.edu	37	10	72468467	72468467	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr10:72468467A>G	ENST00000373207.1	+	4	803	c.803A>G	c.(802-804)gAc>gGc	p.D268G	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.D268G	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	268	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D268G(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CTGGTGGTGGACGACTCGGTG	0.607																																					p.D268G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A803G	10						.						145.0	115.0	125.0					10																	72468467		2203	4300	6503	72138473	SO:0001583	missense	140766	exon4			AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.803A>G	10.37:g.72468467A>G	ENSP00000362303:p.Asp268Gly	Somatic		Capture	SOLID	Phase_I	72138473	NM_080722	Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.510852	0.85389	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	D;D	0.95272	-3.66;-3.66	4.48	4.48	0.54585	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.96738	0.8935	M	0.82517	2.595	0.58432	D	0.999993	D;D	0.63880	0.963;0.993	P;D	0.63381	0.72;0.914	D	0.97157	0.9835	10	0.66056	D	0.02	.	13.5809	0.61903	1.0:0.0:0.0:0.0	.	268;268	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	G	268	ENSP00000362304:D268G;ENSP00000362303:D268G	ENSP00000362303:D268G	D	+	2	0	ADAMTS14	72138473	1.000000	0.71417	0.996000	0.52242	0.794000	0.44872	9.103000	0.94232	1.880000	0.54463	0.402000	0.26972	GAC		0.607	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722	
OIT3	170392	hgsc.bcm.edu	37	10	74658648	74658648	+	Silent	SNP	C	C	T	rs149638646	byFrequency	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr10:74658648C>T	ENST00000334011.5	+	2	506	c.288C>T	c.(286-288)ggC>ggT	p.G96G		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	96						nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.G96G(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					CCCTAGAAGGCGACGGCATTG	0.587													C|||	7	0.00139776	0.0	0.0043	5008	,	,		22356	0.0		0.004	False		,,,				2504	0.0				p.G96G	Colon(7;19 345 13446 17537)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C288T	10						.	C		1,4405	2.1+/-5.4	0,1,2202	97.0	68.0	78.0		288	-9.5	0.4	10	dbSNP_134	78	9,8591	7.1+/-27.0	0,9,4291	no	coding-synonymous	OIT3	NM_152635.1		0,10,6493	TT,TC,CC		0.1047,0.0227,0.0769		96/546	74658648	10,12996	2203	4300	6503	74328654	SO:0001819	synonymous_variant	170392	exon2				CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.288C>T	10.37:g.74658648C>T		Somatic		Capture	SOLID	Phase_I	74328654	NM_152635	A0AVP3|Q8N1M8	Silent	SNP	ENST00000334011.5	37	CCDS7318.1																																																																																				0.587	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048596.1	NM_152635	
FGFR2	2263	hgsc.bcm.edu	37	10	123274805	123274805	+	Silent	SNP	A	A	G			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr10:123274805A>G	ENST00000358487.5	-	9	1385	c.1113T>C	c.(1111-1113)gcT>gcC	p.A371A	FGFR2_ENST00000457416.2_Silent_p.A372A|FGFR2_ENST00000351936.6_Silent_p.A371A|FGFR2_ENST00000369056.1_Silent_p.A372A|FGFR2_ENST00000478859.1_Silent_p.A143A|FGFR2_ENST00000369060.4_Intron|FGFR2_ENST00000360144.3_Silent_p.A283A|FGFR2_ENST00000369061.4_Silent_p.A259A|FGFR2_ENST00000356226.4_Silent_p.A256A|FGFR2_ENST00000357555.5_Silent_p.A282A|FGFR2_ENST00000369059.1_Silent_p.A257A|FGFR2_ENST00000490349.1_5'Flank|FGFR2_ENST00000346997.2_Silent_p.A371A	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	371					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	AGTCTGGGGAAGCTGTAATCT	0.488		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																												p.A256A			Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	.	.	0			c.T768C	10						.						101.0	107.0	105.0					10																	123274805		2203	4300	6503	123264795	SO:0001819	synonymous_variant	2263	exon6	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.1113T>C	10.37:g.123274805A>G		Somatic		Capture	SOLID	Phase_I	123264795	NM_001144916	B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Silent	SNP	ENST00000358487.5	37	CCDS31298.1																																																																																				0.488	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141	
TACC2	10579	hgsc.bcm.edu	37	10	123971076	123971076	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr10:123971076A>G	ENST00000369005.1	+	9	7476	c.7136A>G	c.(7135-7137)gAc>gGc	p.D2379G	TACC2_ENST00000260733.3_Missense_Mutation_p.D457G|TACC2_ENST00000368999.1_Missense_Mutation_p.D457G|TACC2_ENST00000513429.1_Missense_Mutation_p.D525G|TACC2_ENST00000515603.1_Missense_Mutation_p.D2334G|TACC2_ENST00000369001.1_Missense_Mutation_p.D83G|TACC2_ENST00000358010.1_Missense_Mutation_p.D525G|TACC2_ENST00000453444.2_Missense_Mutation_p.D2383G|TACC2_ENST00000360561.3_Missense_Mutation_p.D457G|TACC2_ENST00000369004.3_Missense_Mutation_p.D457G|TACC2_ENST00000334433.3_Missense_Mutation_p.D2379G|TACC2_ENST00000515273.1_Missense_Mutation_p.D2383G|TACC2_ENST00000369000.1_Missense_Mutation_p.D83G	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2379	SPAZ.				astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)	p.D2379G(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GAGTCCGTTGACCCCTTTAAG	0.493																																					p.D457G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1370G	10						.						137.0	136.0	136.0					10																	123971076		2203	4300	6503	123961066	SO:0001583	missense	10579	exon3			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.7136A>G	10.37:g.123971076A>G	ENSP00000358001:p.Asp2379Gly	Somatic		Capture	SOLID	Phase_I	123961066	NM_006997	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	A	18.24	3.580491	0.65992	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000369001;ENST00000369000;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733;ENST00000514539;ENST00000505639;ENST00000496913	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.29655	3.24;2.86;3.24;3.2;3.24;2.86;3.24;1.56;1.64;2.57;3.42;3.42;2.72;2.38;1.6;1.87	4.74	4.74	0.60224	.	0.000000	0.39020	N	0.001493	T	0.53738	0.1815	M	0.71206	2.165	0.40124	D	0.976632	D;D;D;D;D;D;D;P;D;D	0.71674	0.996;0.998;0.998;0.998;0.998;0.996;0.996;0.765;0.996;0.998	D;D;D;D;D;D;D;B;D;D	0.81914	0.959;0.98;0.995;0.989;0.98;0.919;0.919;0.441;0.919;0.989	T	0.57556	-0.7791	10	0.48119	T	0.1	-12.9402	14.5623	0.68148	1.0:0.0:0.0:0.0	.	474;2383;457;2334;2383;457;457;83;525;2379	E9PGB3;E9PBC6;D6RAA5;E7EMZ9;B7ZMJ9;O95359-6;O95359-1;O95359-2;O95359-5;O95359	.;.;.;.;.;.;.;.;.;TACC2_HUMAN	G	2379;525;2383;2334;2379;525;2383;2369;83;83;457;457;457;457;474;107;118	ENSP00000358001:D2379G;ENSP00000425062:D525G;ENSP00000424467:D2383G;ENSP00000427618:D2334G;ENSP00000334280:D2379G;ENSP00000350701:D525G;ENSP00000395048:D2383G;ENSP00000357997:D83G;ENSP00000357996:D83G;ENSP00000353763:D457G;ENSP00000357995:D457G;ENSP00000422815:D457G;ENSP00000260733:D457G;ENSP00000420967:D474G;ENSP00000426303:D107G;ENSP00000422725:D118G	ENSP00000260733:D457G	D	+	2	0	TACC2	123961066	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.115000	0.77110	1.911000	0.55334	0.454000	0.30748	GAC		0.493	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1		
SLCO6A1	133482	hgsc.bcm.edu	37	5	101709144	101709144	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr5:101709144T>A	ENST00000506729.1	-	13	2243	c.2072A>T	c.(2071-2073)tAc>tTc	p.Y691F	SLCO6A1_ENST00000513675.1_Missense_Mutation_p.Y438F|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.Y629F|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.Y691F|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.Y438F			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	691						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.Y691F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		ACGACGTTTGTATATGAAAAA	0.313																																					p.Y691F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2072T	5						.						141.0	140.0	141.0					5																	101709144		2203	4296	6499	101737043	SO:0001583	missense	133482	exon13			AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.2072A>T	5.37:g.101709144T>A	ENSP00000421339:p.Tyr691Phe	Somatic		Capture	SOLID	Phase_I	101737043	NM_173488	A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	T	14.34	2.505298	0.44558	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.50001	0.82;0.82;0.87;0.76;0.76	3.34	-2.36	0.06663	Major facilitator superfamily domain, general substrate transporter (1);	0.646461	0.14041	N	0.345421	T	0.48960	0.1529	M	0.63843	1.955	0.09310	N	1	D;D;D	0.56968	0.978;0.963;0.963	P;P;P	0.56343	0.796;0.716;0.63	T	0.40590	-0.9555	10	0.54805	T	0.06	.	2.3317	0.04237	0.3763:0.2328:0.0:0.3909	.	629;438;691	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	F	691;691;629;438;438	ENSP00000421339:Y691F;ENSP00000369135:Y691F;ENSP00000373671:Y629F;ENSP00000421990:Y438F;ENSP00000369138:Y438F	ENSP00000369135:Y691F	Y	-	2	0	SLCO6A1	101737043	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.347000	0.07750	-0.457000	0.07033	0.528000	0.53228	TAC		0.313	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488	
CTNND2	1501	hgsc.bcm.edu	37	5	10988277	10988277	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr5:10988277C>T	ENST00000304623.8	-	20	3478	c.3289G>A	c.(3289-3291)Gcc>Acc	p.A1097T	CTNND2_ENST00000458100.2_Missense_Mutation_p.A664T|CTNND2_ENST00000359640.2_Missense_Mutation_p.A1039T|CTNND2_ENST00000511377.1_Missense_Mutation_p.A1006T|CTNND2_ENST00000503622.1_Missense_Mutation_p.A760T|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1097					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.A1097T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGGTAGGTGGCGTTGCTGCCG	0.557											OREG0016517	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A1097T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3289A	5						.						179.0	155.0	164.0					5																	10988277		2203	4300	6503	11041277	SO:0001583	missense	1501	exon20			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.3289G>A	5.37:g.10988277C>T	ENSP00000307134:p.Ala1097Thr	Somatic	668	Capture	SOLID	Phase_I	11041277	NM_001332	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880776	0.72294	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000538638;ENST00000458100;ENST00000503622	T;T;T;T;T	0.78246	-1.04;-1.11;-1.03;-1.16;-1.15	5.67	5.67	0.87782	.	0.056890	0.64402	D	0.000001	T	0.68815	0.3042	L	0.36672	1.1	0.80722	D	1	P;P;P	0.52842	0.956;0.921;0.952	B;B;B	0.36289	0.221;0.221;0.202	T	0.71984	-0.4427	10	0.41790	T	0.15	-22.942	19.7706	0.96363	0.0:1.0:0.0:0.0	.	760;689;1097	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	T	1097;1039;1006;192;664;760	ENSP00000307134:A1097T;ENSP00000352661:A1039T;ENSP00000426510:A1006T;ENSP00000391155:A664T;ENSP00000426887:A760T	ENSP00000307134:A1097T	A	-	1	0	CTNND2	11041277	1.000000	0.71417	0.988000	0.46212	0.823000	0.46562	4.419000	0.59835	2.697000	0.92050	0.655000	0.94253	GCC		0.557	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332	
PPIP5K2	23262	hgsc.bcm.edu	37	5	102519014	102519014	+	Missense_Mutation	SNP	G	G	A	rs373195670		TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr5:102519014G>A	ENST00000358359.3	+	25	3511	c.3002G>A	c.(3001-3003)cGt>cAt	p.R1001H	PPIP5K2_ENST00000321521.9_Missense_Mutation_p.R1001H|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.R1001H	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	1001					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)	p.R1001H(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GGTACTGGGCGTCGAAGACGC	0.522																																					p.R1001H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3002A	5						.	G	HIS/ARG	0,4406		0,0,2203	97.0	91.0	93.0		3002	4.9	1.0	5		93	1,8599	1.2+/-3.3	0,1,4299	no	missense	PPIP5K2	NM_015216.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1001/1223	102519014	1,13005	2203	4300	6503	102546913	SO:0001583	missense	23262	exon24			AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.3002G>A	5.37:g.102519014G>A	ENSP00000351126:p.Arg1001His	Somatic		Capture	SOLID	Phase_I	102546913	NM_015216	A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	ENST00000358359.3	37		.	.	.	.	.	.	.	.	.	.	G	14.16	2.452937	0.43531	0.0	1.16E-4	ENSG00000145725	ENST00000321521;ENST00000358359;ENST00000451606;ENST00000414217	T;T;T	0.15256	2.44;2.44;2.44	5.76	4.86	0.63082	.	0.000000	0.64402	D	0.000008	T	0.32010	0.0815	L	0.40543	1.245	0.48087	D	0.999588	D;B	0.76494	0.999;0.007	D;B	0.68353	0.957;0.003	T	0.00740	-1.1586	10	0.42905	T	0.14	-14.2372	16.2281	0.82311	0.0:0.0:0.8667:0.1333	.	1001;1001	O43314-2;O43314	.;VIP2_HUMAN	H	1001;1001;1016;1001	ENSP00000313070:R1001H;ENSP00000351126:R1001H;ENSP00000416016:R1001H	ENSP00000313070:R1001H	R	+	2	0	PPIP5K2	102546913	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.252000	0.72447	2.706000	0.92434	0.591000	0.81541	CGT		0.522	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216	
STARD4	134429	hgsc.bcm.edu	37	5	110835631	110835631	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr5:110835631C>T	ENST00000296632.3	-	6	705	c.571G>A	c.(571-573)Gca>Aca	p.A191T	STARD4_ENST00000511569.1_5'Flank|STARD4_ENST00000512160.1_3'UTR	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain containing 4	191	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				lipid transport (GO:0006869)		lipid binding (GO:0008289)	p.A191T(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		AAAGTGCTTGCCATGGCTGTA	0.408																																					p.A191T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G571A	5						.						174.0	164.0	167.0					5																	110835631		2202	4300	6502	110863530	SO:0001583	missense	134429	exon6			AF480299	CCDS4104.1	5q22	2011-09-12	2007-08-16		ENSG00000164211	ENSG00000164211		"""StAR-related lipid transfer (START) domain containing"""	18058	protein-coding gene	gene with protein product		607049	"""START domain containing 4, sterol regulated"""			12011452	Standard	NM_139164		Approved		uc003kph.1	Q96DR4	OTTHUMG00000128793	ENST00000296632.3:c.571G>A	5.37:g.110835631C>T	ENSP00000296632:p.Ala191Thr	Somatic		Capture	SOLID	Phase_I	110863530	NM_139164	Q86TN9	Missense_Mutation	SNP	ENST00000296632.3	37	CCDS4104.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.664060	0.88251	.	.	ENSG00000164211	ENST00000296632;ENST00000505803	T;T	0.78364	-1.17;1.06	5.68	4.78	0.61160	Lipid-binding START (2);START-like domain (1);	0.000000	0.85682	D	0.000000	T	0.81093	0.4751	L	0.57536	1.79	0.80722	D	1	P	0.51449	0.945	P	0.54431	0.752	T	0.77062	-0.2727	10	0.22706	T	0.39	-3.8227	15.0937	0.72217	0.2531:0.7469:0.0:0.0	.	191	Q96DR4	STAR4_HUMAN	T	191	ENSP00000296632:A191T;ENSP00000427478:A191T	ENSP00000296632:A191T	A	-	1	0	STARD4	110863530	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.437000	0.52863	2.690000	0.91761	0.650000	0.86243	GCA		0.408	STARD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250720.1	NM_139164	
KCNN2	3781	hgsc.bcm.edu	37	5	113740528	113740528	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr5:113740528G>A	ENST00000512097.3	+	4	1994	c.976G>A	c.(976-978)Gca>Aca	p.A326T	KCNN2_ENST00000264773.3_Missense_Mutation_p.A326T|KCNN2_ENST00000507750.1_Intron			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	326					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.A326T(3)|p.A326P(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	GATAATTGCCGCATGGACTGT	0.328																																					p.A326T												.	.	5	Substitution - Missense(5)	lung(2)|large_intestine(2)|ovary(1)	c.G976A	5						.						132.0	132.0	132.0					5																	113740528		2202	4300	6502	113768427	SO:0001583	missense	3781	exon3			AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.976G>A	5.37:g.113740528G>A	ENSP00000427120:p.Ala326Thr	Somatic		Capture	SOLID	Phase_I	113768427	NM_021614	A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Missense_Mutation	SNP	ENST00000512097.3	37	CCDS4114.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328347	0.81690	.	.	ENSG00000080709	ENST00000512097;ENST00000264773	T;T	0.33438	1.41;1.41	5.54	5.54	0.83059	Ion transport 2 (1);	0.048822	0.85682	D	0.000000	T	0.42539	0.1207	M	0.73372	2.23	0.80722	D	1	P	0.41643	0.758	B	0.42882	0.401	T	0.45160	-0.9280	10	0.87932	D	0	-3.3539	19.0766	0.93165	0.0:0.0:1.0:0.0	.	326	Q9H2S1	KCNN2_HUMAN	T	326	ENSP00000427120:A326T;ENSP00000264773:A326T	ENSP00000264773:A326T	A	+	1	0	KCNN2	113768427	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.751000	0.98889	2.616000	0.88540	0.491000	0.48974	GCA		0.328	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614	
FBN2	2201	hgsc.bcm.edu	37	5	127668642	127668642	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr5:127668642C>A	ENST00000508053.1	-	38	5158	c.4184G>T	c.(4183-4185)tGc>tTc	p.C1395F	FBN2_ENST00000507835.1_Missense_Mutation_p.C245F|FBN2_ENST00000262464.4_Missense_Mutation_p.C1395F|FBN2_ENST00000508989.1_Missense_Mutation_p.C1362F			P35556	FBN2_HUMAN	fibrillin 2	1395	EGF-like 22; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.C1395F(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCCTTCTCTGCAGCTACACTT	0.403																																					p.C1395F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4184T	5						.						203.0	189.0	194.0					5																	127668642		2203	4300	6503	127696541	SO:0001583	missense	2201	exon32			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.4184G>T	5.37:g.127668642C>A	ENSP00000424571:p.Cys1395Phe	Somatic		Capture	SOLID	Phase_I	127696541	NM_001999	B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.878508	0.91740	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000507835;ENST00000508989	D;D;D;D	0.99445	-5.91;-5.91;-5.91;-5.91	4.9	4.9	0.64082	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000004	D	0.99832	0.9924	H	0.99777	4.77	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.996	D	0.96357	0.9263	10	0.87932	D	0	.	18.6314	0.91361	0.0:1.0:0.0:0.0	.	1362;1395	D6RJI3;P35556	.;FBN2_HUMAN	F	1395;1395;245;1362	ENSP00000262464:C1395F;ENSP00000424571:C1395F;ENSP00000426839:C245F;ENSP00000425596:C1362F	ENSP00000262464:C1395F	C	-	2	0	FBN2	127696541	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.609000	0.82925	2.700000	0.92200	0.655000	0.94253	TGC		0.403	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	
DNAH5	1767	hgsc.bcm.edu	37	5	13769677	13769677	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr5:13769677G>A	ENST00000265104.4	-	57	9757	c.9653C>T	c.(9652-9654)gCa>gTa	p.A3218V	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3218	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A3218V(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACTCAAGGCTGCAACAGACTC	0.438									Kartagener syndrome																												p.A3218V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C9653T	5						.						224.0	201.0	209.0					5																	13769677		2203	4300	6503	13822677	SO:0001583	missense	1767	exon57	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.9653C>T	5.37:g.13769677G>A	ENSP00000265104:p.Ala3218Val	Somatic		Capture	SOLID	Phase_I	13822677	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.505451	0.64410	.	.	ENSG00000039139	ENST00000265104	T	0.74526	-0.85	5.77	4.89	0.63831	Dynein heavy chain, coiled coil stalk (1);	0.049855	0.85682	D	0.000000	T	0.76198	0.3954	M	0.81614	2.55	0.80722	D	1	B	0.15141	0.012	B	0.27262	0.078	T	0.71297	-0.4635	10	0.30078	T	0.28	.	14.5884	0.68344	0.07:0.0:0.93:0.0	.	3218	Q8TE73	DYH5_HUMAN	V	3218	ENSP00000265104:A3218V	ENSP00000265104:A3218V	A	-	2	0	DNAH5	13822677	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.817000	0.86213	2.890000	0.99128	0.650000	0.86243	GCA		0.438	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
ADAMTS19	171019	hgsc.bcm.edu	37	5	128957999	128957999	+	Silent	SNP	G	G	A			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr5:128957999G>A	ENST00000274487.4	+	10	1855	c.1710G>A	c.(1708-1710)caG>caA	p.Q570Q	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	570	Disintegrin.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.Q570Q(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AACAATGCCAGATCCTTTTTG	0.448																																					p.Q570Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1710A	5						.						155.0	131.0	139.0					5																	128957999		2203	4300	6503	128985898	SO:0001819	synonymous_variant	171019	exon10			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1710G>A	5.37:g.128957999G>A		Somatic		Capture	SOLID	Phase_I	128985898	NM_133638		Silent	SNP	ENST00000274487.4	37	CCDS4146.1																																																																																				0.448	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638	
CSF1R	1436	hgsc.bcm.edu	37	5	149435644	149435644	+	Silent	SNP	C	C	T	rs149872699		TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr5:149435644C>T	ENST00000286301.3	-	19	2790	c.2499G>A	c.(2497-2499)acG>acA	p.T833T		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	833	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)	p.T833T(2)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CGCTCTGAACCGTGTAGACAC	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		19862	0.001		0.0	False		,,,				2504	0.0				p.T833T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G2499A	5						.	C		0,4406		0,0,2203	98.0	97.0	97.0		2499	-10.4	0.3	5	dbSNP_134	97	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CSF1R	NM_005211.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		833/973	149435644	1,13005	2203	4300	6503	149415837	SO:0001819	synonymous_variant	1436	exon19			U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.2499G>A	5.37:g.149435644C>T		Somatic		Capture	SOLID	Phase_I	149415837	NM_005211	B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Silent	SNP	ENST00000286301.3	37	CCDS4302.1																																																																																				0.602	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211	
GRIA1	2890	hgsc.bcm.edu	37	5	153029977	153029977	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr5:153029977A>G	ENST00000285900.5	+	4	891	c.548A>G	c.(547-549)gAg>gGg	p.E183G	GRIA1_ENST00000518142.1_Missense_Mutation_p.E103G|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000521843.2_Missense_Mutation_p.E114G|GRIA1_ENST00000340592.5_Missense_Mutation_p.E183G|GRIA1_ENST00000518783.1_Missense_Mutation_p.E193G|GRIA1_ENST00000448073.4_Missense_Mutation_p.E193G	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	183					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.E183G(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	ACCACAGAGGAGGGATACCGG	0.507																																					p.E183G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A548G	5						.						120.0	115.0	117.0					5																	153029977		2203	4300	6503	153010170	SO:0001583	missense	2890	exon4				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.548A>G	5.37:g.153029977A>G	ENSP00000285900:p.Glu183Gly	Somatic		Capture	SOLID	Phase_I	153010170	NM_001114183	B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	A	17.12	3.307967	0.60305	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	D;D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	5.33	5.33	0.75918	Extracellular ligand-binding receptor (1);	0.050020	0.85682	D	0.000000	T	0.73768	0.3629	L	0.29908	0.895	0.58432	D	0.999995	B;B;B;B;B;B	0.22276	0.067;0.067;0.001;0.067;0.022;0.02	B;B;B;B;B;B	0.23275	0.045;0.045;0.005;0.045;0.016;0.035	T	0.68473	-0.5399	10	0.16896	T	0.51	.	14.4801	0.67576	1.0:0.0:0.0:0.0	.	193;193;103;193;183;183	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	G	183;183;103;137;183;114;114;193;193	ENSP00000285900:E183G;ENSP00000427920:E103G;ENSP00000339343:E183G;ENSP00000427864:E114G;ENSP00000442108:E114G;ENSP00000428994:E193G;ENSP00000415569:E193G	ENSP00000285900:E183G	E	+	2	0	GRIA1	153010170	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.334000	0.52097	2.020000	0.59435	0.528000	0.53228	GAG		0.507	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3		
CDH6	1004	hgsc.bcm.edu	37	5	31302334	31302334	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr5:31302334G>A	ENST00000265071.2	+	6	1193	c.928G>A	c.(928-930)Ggt>Agt	p.G310S	CDH6_ENST00000514738.1_Missense_Mutation_p.G255S	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	310	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G310S(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CATCACAGACGGTGAGGGGCT	0.473																																					p.G310S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G928A	5						.						130.0	121.0	124.0					5																	31302334		2203	4300	6503	31338091	SO:0001583	missense	1004	exon6			D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.928G>A	5.37:g.31302334G>A	ENSP00000265071:p.Gly310Ser	Somatic		Capture	SOLID	Phase_I	31338091	NM_004932	A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	G	34	5.341012	0.95783	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.42131	0.98;0.98	5.79	5.79	0.91817	Cadherin (4);Cadherin-like (1);	0.211787	0.49305	D	0.000146	T	0.67221	0.2870	M	0.73598	2.24	0.52099	D	0.999946	D;D	0.62365	0.991;0.99	D;P	0.72075	0.976;0.713	T	0.68055	-0.5510	10	0.66056	D	0.02	.	20.0944	0.97832	0.0:0.0:1.0:0.0	.	310;310	P55285;P55285-2	CADH6_HUMAN;.	S	255;310	ENSP00000424843:G255S;ENSP00000265071:G310S	ENSP00000265071:G310S	G	+	1	0	CDH6	31338091	1.000000	0.71417	0.975000	0.42487	0.990000	0.78478	5.807000	0.69157	2.752000	0.94435	0.585000	0.79938	GGT		0.473	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932	
GOLPH3	64083	hgsc.bcm.edu	37	5	32126695	32126695	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr5:32126695G>A	ENST00000265070.6	-	4	835	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W	GOLPH3_ENST00000512668.1_5'Flank	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	174					cell adhesion molecule production (GO:0060352)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|gene expression (GO:0010467)|glycoprotein biosynthetic process (GO:0009101)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi vesicle budding (GO:0048194)|lamellipodium assembly (GO:0030032)|leukocyte tethering or rolling (GO:0050901)|positive regulation of protein secretion (GO:0050714)|positive regulation of TOR signaling (GO:0032008)|protein retention in Golgi apparatus (GO:0045053)|protein secretion (GO:0009306)|regulation of mitochondrion organization (GO:0010821)	cytosol (GO:0005829)|endosome (GO:0005768)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|phosphatidylinositol-4-phosphate binding (GO:0070273)	p.R174W(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						AATCGTTCCCGTACATTTCTT	0.348																																					p.R174W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C520T	5						.						119.0	119.0	119.0					5																	32126695		2203	4300	6503	32162452	SO:0001583	missense	64083	exon4			AK075156	CCDS3896.1	5p13.2	2008-07-18			ENSG00000113384	ENSG00000113384			15452	protein-coding gene	gene with protein product	"""golgi peripheral membrane protein 1, 34 kDa"", ""golgi protein"", ""coat-protein"", ""golgi-associated protein"""	612207				11042173, 16263763	Standard	NM_022130		Approved	GPP34, GOPP1, MIDAS	uc003jhp.1	Q9H4A6	OTTHUMG00000090679	ENST00000265070.6:c.520C>T	5.37:g.32126695G>A	ENSP00000265070:p.Arg174Trp	Somatic		Capture	SOLID	Phase_I	32162452	NM_022130	Q9UIW5	Missense_Mutation	SNP	ENST00000265070.6	37	CCDS3896.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.714647	0.30413	.	.	ENSG00000113384	ENST00000265070;ENST00000542582	.	.	.	6.16	2.42	0.29668	.	0.101290	0.64402	D	0.000003	T	0.62672	0.2447	M	0.93763	3.455	0.80722	D	1	P	0.42203	0.773	B	0.37943	0.261	T	0.64487	-0.6396	9	0.66056	D	0.02	.	7.8347	0.29363	0.1221:0.0:0.6423:0.2356	.	174	Q9H4A6	GOLP3_HUMAN	W	174;157	.	ENSP00000265070:R174W	R	-	1	2	GOLPH3	32162452	0.999000	0.42202	0.143000	0.22291	0.910000	0.53928	2.850000	0.48294	0.168000	0.19655	0.650000	0.86243	CGG		0.348	GOLPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207363.2	NM_022130	
ITGA1	3672	hgsc.bcm.edu	37	5	52204742	52204742	+	Silent	SNP	T	T	C			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr5:52204742T>C	ENST00000282588.6	+	13	1928	c.1470T>C	c.(1468-1470)ttT>ttC	p.F490F		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	490					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)	p.F490F(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GTTCCTACTTTGGCAGTATTT	0.383																																					p.F490F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1470C	5						.						148.0	142.0	144.0					5																	52204742		2203	4300	6503	52240499	SO:0001819	synonymous_variant	3672	exon13			X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.1470T>C	5.37:g.52204742T>C		Somatic		Capture	SOLID	Phase_I	52240499	NM_181501	B2RNU0	Silent	SNP	ENST00000282588.6	37	CCDS3955.1																																																																																				0.383	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501	
MAP1B	4131	hgsc.bcm.edu	37	5	71491461	71491461	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr5:71491461C>T	ENST00000296755.7	+	5	2577	c.2279C>T	c.(2278-2280)cCc>cTc	p.P760L		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	760	Lys-rich (highly basic, contains many KKEE and KKEI/V repeats).				axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.P760L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CCAAAAGTACCCAAGAAGGAA	0.418																																					p.P760L	Melanoma(17;367 822 11631 31730 47712)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2279T	5						.						76.0	84.0	81.0					5																	71491461		2203	4300	6503	71527217	SO:0001583	missense	4131	exon5			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.2279C>T	5.37:g.71491461C>T	ENSP00000296755:p.Pro760Leu	Somatic		Capture	SOLID	Phase_I	71527217	NM_005909	A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	C	6.844	0.525026	0.13066	.	.	ENSG00000131711	ENST00000296755	T	0.20738	2.05	5.63	4.68	0.58851	.	0.583196	0.16702	N	0.203089	T	0.14743	0.0356	N	0.22421	0.69	0.24486	N	0.994325	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.09952	-1.0651	10	0.24483	T	0.36	-4.7348	13.1733	0.59611	0.2663:0.7337:0.0:0.0	.	634;760	A2BDK6;P46821	.;MAP1B_HUMAN	L	760	ENSP00000296755:P760L	ENSP00000296755:P760L	P	+	2	0	MAP1B	71527217	0.106000	0.21978	0.839000	0.33178	0.960000	0.62799	1.922000	0.40045	2.644000	0.89710	0.655000	0.94253	CCC		0.418	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909	
IQGAP2	10788	hgsc.bcm.edu	37	5	75989181	75989181	+	Splice_Site	SNP	A	A	G			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr5:75989181A>G	ENST00000274364.6	+	31	4204	c.3907A>G	c.(3907-3909)Acc>Gcc	p.T1303A	IQGAP2_ENST00000396234.3_Splice_Site_p.T799A|CTD-2384B11.2_ENST00000507514.1_RNA|IQGAP2_ENST00000379730.3_Splice_Site_p.T805A|IQGAP2_ENST00000502745.1_Splice_Site_p.T799A	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1303					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)	p.T1303A(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TTTGTTAAGGACCAAGAAGCT	0.408																																					p.T1303A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3907G	5						.						88.0	79.0	82.0					5																	75989181		2203	4300	6503	76024937	SO:0001630	splice_region_variant	10788	exon31			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.3906-1A>G	5.37:g.75989181A>G		Somatic		Capture	SOLID	Phase_I	76024937	NM_006633	A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	ENST00000274364.6	37	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.839596	0.91117	.	.	ENSG00000145703	ENST00000274364;ENST00000379730;ENST00000505766;ENST00000396234;ENST00000502745	T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.71854	0.3389	M	0.85859	2.78	0.80722	D	1	D;D;D	0.64830	0.994;0.985;0.989	D;D;D	0.66716	0.943;0.943;0.946	T	0.76911	-0.2784	10	0.87932	D	0	-23.9451	16.4361	0.83875	1.0:0.0:0.0:0.0	.	805;799;1303	F5H7S7;Q13576-2;Q13576	.;.;IQGA2_HUMAN	A	1303;805;1253;799;799	ENSP00000274364:T1303A;ENSP00000442313:T805A;ENSP00000421097:T1253A;ENSP00000379535:T799A;ENSP00000426027:T799A	ENSP00000274364:T1303A	T	+	1	0	IQGAP2	76024937	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.927000	0.92846	2.274000	0.75844	0.533000	0.62120	ACC		0.408	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633	Missense_Mutation
HAVCR2	84868	hgsc.bcm.edu	37	5	156535948	156535950	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	AGC	AGC	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr5:156535948_156535950delAGC	ENST00000307851.4	-	1	775_777	c.45_47delGCT	c.(43-48)ctgcta>cta	p.15_16LL>L	HAVCR2_ENST00000522593.1_In_Frame_Del_p.15_16LL>L|CTB-120L21.1_ENST00000517708.1_RNA|HAVCR2_ENST00000517358.1_5'Flank	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	15						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.L18delL(1)|p.L15L(1)		cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGTAAGTAGTAGCAGCAGCAGCA	0.438																																					p.15_16del												.	.	2	Substitution - coding silent(1)|Deletion - In frame(1)	large_intestine(2)	c.45_47del	5						.																																			156468528	SO:0001651	inframe_deletion	84868	exon1			AK027334	CCDS4333.1	5q34	2014-01-14			ENSG00000135077	ENSG00000135077		"""Immunoglobulin superfamily / V-set domain containing"""	18437	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 3"""	606652				11823861	Standard	NM_032782		Approved	Tim-3, TIM3, FLJ14428, TIMD3	uc003lwk.2	Q8TDQ0	OTTHUMG00000130249	ENST00000307851.4:c.45_47delGCT	5.37:g.156535957_156535959delAGC	ENSP00000312002:p.Leu18del	Somatic		Capture	SOLID	Phase_I	156468526	NM_032782	B2RAY2|Q8WW60|Q96K94	In_Frame_Del	DEL	ENST00000307851.4	37	CCDS4333.1																																																																																				0.438	HAVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252574.2		
SOX30	11063	hgsc.bcm.edu	37	5	157065583	157065583	+	Missense_Mutation	SNP	C	C	T	rs370510848		TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr5:157065583C>T	ENST00000265007.6	-	4	1876	c.1535G>A	c.(1534-1536)cGc>cAc	p.R512H	SOX30_ENST00000519442.1_Missense_Mutation_p.R207H|SOX30_ENST00000311371.5_Intron	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	512					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R512H(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCCAGTAAAGCGTTGGGGTGG	0.562																																					p.R512H	Esophageal Squamous(31;525 799 19355 21125 41744)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1535A	5						.	T	,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	78.0	78.0	78.0		,1535	-2.0	0.2	5		78	0,8600		0,0,4300	no	intron,missense	SOX30	NM_007017.2,NM_178424.1	,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,benign	,512/754	157065583	1,13005	2203	4300	6503	156998161	SO:0001583	missense	11063	exon4			AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"""SRY (sex determining region Y)-boxes"""	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.1535G>A	5.37:g.157065583C>T	ENSP00000265007:p.Arg512His	Somatic		Capture	SOLID	Phase_I	156998161	NM_178424	O94995|Q8IYX6	Missense_Mutation	SNP	ENST00000265007.6	37	CCDS4339.1	.	.	.	.	.	.	.	.	.	.	c	0.015	-1.557440	0.00910	2.27E-4	0.0	ENSG00000039600	ENST00000265007;ENST00000519442	D;D	0.97642	-4.21;-4.47	5.49	-1.99	0.07457	.	0.769759	0.12145	N	0.495419	D	0.89726	0.6798	N	0.08118	0	0.09310	N	0.999998	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.76005	-0.3117	10	0.08599	T	0.76	.	13.2	0.59763	0.0:0.407:0.0:0.593	.	207;512	B4DXW7;O94993	.;SOX30_HUMAN	H	512;207	ENSP00000265007:R512H;ENSP00000427984:R207H	ENSP00000265007:R512H	R	-	2	0	SOX30	156998161	0.000000	0.05858	0.190000	0.23270	0.002000	0.02628	-2.212000	0.01225	-0.829000	0.04268	-1.670000	0.00746	CGC		0.562	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252571.2	NM_007017	
TCL6	27004	hgsc.bcm.edu	37	14	96128998	96128998	+	RNA	SNP	G	G	T			TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-3543-01A-01W-0833-10	TCGA-AA-3543-10A-01W-0833-10	g.chr14:96128998G>T	ENST00000467865.1	+	0	0				RP11-1070N10.6_ENST00000461160.1_RNA					T-cell leukemia/lymphoma 6 (non-protein coding)											large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		attatcaaaagaaggtattat	0.353			T	TRA@	T-ALL																																.			Dom	yes		14	14q32.1	27004	T-cell leukemia/lymphoma 6		L	.	.	0			.	14						.						129.0	130.0	130.0					14																	96128998		2203	4300	6503	95198751			27004	.			AB035338		14q32.1	2012-10-16	2010-06-01		ENSG00000187621	ENSG00000187621		"""Long non-coding RNAs"""	13463	non-coding RNA	RNA, long non-coding		604412	"""T-cell leukemia/lymphoma 6"""			10588720, 10851082	Standard	NR_028288		Approved	TCL6e1, TNG2, TNG1	uc001yev.2		OTTHUMG00000149979		14.37:g.96128998G>T		Somatic		Capture	SOLID	Phase_I	95198751	.		Missense_Mutation	SNP	ENST00000467865.1	37																																																																																					0.353	TCL6-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000315133.1	NM_012468	
