#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_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	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	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
INADL	10207	broad.mit.edu	37	1	62614008	62614008	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr1:62614008C>G	ENST00000371158.2	+	42	5438	c.5324C>G	c.(5323-5325)tCt>tGt	p.S1775C		NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1775					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.S1775C(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GAAAACATGTCTACAGGCTAC	0.448																																						ENST00000371158.2																			1	Substitution - Missense(1)	p.S1775C(1)	prostate(1)	breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						c.(5323-5325)tCt>tGt		InaD-like (Drosophila)							149.0	141.0	144.0					1																	62614008		1904	4128	6032	SO:0001583	missense	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62614008C>G	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.5324C>G	1.37:g.62614008C>G	ENSP00000360200:p.Ser1775Cys		Somatic					p.S1775C	NM_176877.2	NP_795352	WXS	Illumina GAIIx	Phase_I	Q8NI35	INADL_HUMAN			42	5438	+			1775					O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	c.5324C>G	CCDS617.2	.	.	.	.	.	.	.	.	.	.	C	22.9	4.355986	0.82243	.	.	ENSG00000132849	ENST00000371158	T	0.13901	2.55	5.32	5.32	0.75619	.	0.083086	0.49916	D	0.000126	T	0.29028	0.0721	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.71870	0.975	T	0.02288	-1.1182	10	0.87932	D	0	.	18.9996	0.92828	0.0:1.0:0.0:0.0	.	1775	Q8NI35	INADL_HUMAN	C	1775	ENSP00000360200:S1775C	ENSP00000360200:S1775C	S	+	2	0	INADL	62386596	1.000000	0.71417	0.925000	0.36789	0.927000	0.56198	4.950000	0.63603	2.480000	0.83734	0.561000	0.74099	TCT		0.448	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		8	301	8	301	---	---	---	---
TRAF3IP3	80342	broad.mit.edu	37	1	209948722	209948722	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr1:209948722T>A	ENST00000367024.1	+	10	1319	c.803T>A	c.(802-804)gTa>gAa	p.V268E	TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.V268E|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.V248E|TRAF3IP3_ENST00000477431.1_Missense_Mutation_p.V4E|TRAF3IP3_ENST00000367023.1_Missense_Mutation_p.V4E|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.V248E|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.V248E			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	268						integral component of membrane (GO:0016021)		p.V248E(1)		breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		ATGAAAAAAGTACTACTGGAG	0.428																																						ENST00000367024.1																			1	Substitution - Missense(1)	p.V248E(1)	prostate(1)	breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(802-804)gTa>gAa		TRAF3 interacting protein 3							54.0	56.0	55.0					1																	209948722		2203	4300	6503	SO:0001583	missense	80342					integral to membrane	protein binding	g.chr1:209948722T>A		CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790			30766	protein-coding gene	gene with protein product	"""TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"""	608255				14572659	Standard	XR_247044		Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	ENST00000367024.1:c.803T>A	1.37:g.209948722T>A	ENSP00000355991:p.Val268Glu		Somatic				TRAF3IP3_ENST00000477431.1_Missense_Mutation_p.V4E|TRAF3IP3_ENST00000367023.1_Missense_Mutation_p.V4E|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.V248E|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.V268E|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.V248E|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.V248E	p.V268E			WXS	Illumina GAIIx	Phase_I	Q9Y228	T3JAM_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.045)	10	1319	+			268					A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Missense_Mutation	SNP	ENST00000367024.1	37	c.803T>A	CCDS1490.2	.	.	.	.	.	.	.	.	.	.	T	13.44	2.237991	0.39598	.	.	ENSG00000009790	ENST00000400959;ENST00000367025;ENST00000458110;ENST00000367026;ENST00000367024;ENST00000010338;ENST00000367023;ENST00000487271;ENST00000477431	T;T;T;T;T;T;T	0.76968	-1.03;-1.06;-1.06;-1.06;-1.06;1.06;1.05	5.3	4.18	0.49190	.	0.407546	0.22705	N	0.056655	T	0.74943	0.3783	L	0.42245	1.32	0.38319	D	0.943461	P;P;D;P	0.53462	0.804;0.589;0.96;0.944	B;B;P;P	0.50659	0.36;0.288;0.52;0.647	T	0.72776	-0.4191	10	0.30078	T	0.28	-5.6616	9.7964	0.40737	0.0:0.0812:0.0:0.9188	.	268;248;268;248	Q9Y228;Q9Y228-2;Q9Y228-3;E2QRE5	T3JAM_HUMAN;.;.;.	E	248;268;251;248;268;248;4;4;4	ENSP00000383743:V248E;ENSP00000355992:V268E;ENSP00000355993:V248E;ENSP00000355991:V268E;ENSP00000010338:V248E;ENSP00000355990:V4E;ENSP00000417417:V4E	ENSP00000010338:V248E	V	+	2	0	TRAF3IP3	208015345	1.000000	0.71417	0.962000	0.40283	0.952000	0.60782	1.598000	0.36740	0.868000	0.35678	0.460000	0.39030	GTA		0.428	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088734.2			10	35	10	35	---	---	---	---
PUM2	23369	broad.mit.edu	37	2	20490511	20490511	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr2:20490511T>C	ENST00000361078.2	-	9	1215	c.1193A>G	c.(1192-1194)aAt>aGt	p.N398S	PUM2_ENST00000338086.5_Missense_Mutation_p.N398S|PUM2_ENST00000536417.1_Missense_Mutation_p.N342S|PUM2_ENST00000319801.5_Missense_Mutation_p.N398S|PUM2_ENST00000403432.1_Missense_Mutation_p.N398S			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	398	Ala-rich.|Gln-rich.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)	p.N398S(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGACCCTGATTGGGAGTAAG	0.443																																						ENST00000361078.2																			1	Substitution - Missense(1)	p.N398S(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42						c.(1192-1194)aAt>aGt		pumilio RNA-binding family member 2							71.0	65.0	67.0					2																	20490511		2203	4300	6503	SO:0001583	missense	23369				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	g.chr2:20490511T>C	AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"""pumilio (Drosphila) homolog 2"", ""pumilio homolog 2 (Drosophila)"""			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.1193A>G	2.37:g.20490511T>C	ENSP00000354370:p.Asn398Ser		Somatic				PUM2_ENST00000403432.1_Missense_Mutation_p.N398S|PUM2_ENST00000536417.1_Missense_Mutation_p.N342S|PUM2_ENST00000319801.5_Missense_Mutation_p.N398S|PUM2_ENST00000338086.5_Missense_Mutation_p.N398S	p.N398S			WXS	Illumina GAIIx	Phase_I	Q8TB72	PUM2_HUMAN			9	1215	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		398			Ala-rich.|Gln-rich.		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	ENST00000361078.2	37	c.1193A>G		.	.	.	.	.	.	.	.	.	.	T	8.386	0.838525	0.16891	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000440577;ENST00000403432;ENST00000536417	T;T;T;T;T;T	0.15603	2.41;2.7;2.71;2.44;2.41;2.41	5.26	0.241	0.15494	.	0.239125	0.49916	N	0.000130	T	0.06962	0.0177	N	0.12887	0.27	0.20563	N	0.999886	B;B;B	0.25521	0.009;0.0;0.128	B;B;B	0.25405	0.013;0.0;0.06	T	0.41945	-0.9480	10	0.02654	T	1	-2.4731	10.0847	0.42410	0.0:0.3553:0.0:0.6447	.	342;398;398	B4E2B6;B7ZL34;Q8TB72-3	.;.;.	S	398;398;398;289;398;342	ENSP00000338173:N398S;ENSP00000354370:N398S;ENSP00000326746:N398S;ENSP00000409905:N289S;ENSP00000385992:N398S;ENSP00000440093:N342S	ENSP00000326746:N398S	N	-	2	0	PUM2	20353992	0.985000	0.35326	0.964000	0.40570	0.995000	0.86356	0.522000	0.22909	-0.114000	0.11936	-0.326000	0.08463	AAT		0.443	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317		10	123	10	123	---	---	---	---
EPC2	26122	broad.mit.edu	37	2	149526724	149526724	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr2:149526724T>G	ENST00000258484.6	+	8	1179	c.1145T>G	c.(1144-1146)tTg>tGg	p.L382W		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	382					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Piccolo NuA4 histone acetyltransferase complex (GO:0032777)		p.L382W(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		GTCTAGGTATTGTCCCCAGTA	0.378																																						ENST00000258484.6																			1	Substitution - Missense(1)	p.L382W(1)	prostate(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						c.(1144-1146)tTg>tGg		enhancer of polycomb homolog 2 (Drosophila)							79.0	77.0	77.0					2																	149526724		1856	4104	5960	SO:0001583	missense	26122				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:149526724T>G	AF286904	CCDS46422.1	2q23	2008-02-05			ENSG00000135999	ENSG00000135999			24543	protein-coding gene	gene with protein product		611000					Standard	NM_015630		Approved	DKFZP566F2124	uc010zbt.2	Q52LR7	OTTHUMG00000153739	ENST00000258484.6:c.1145T>G	2.37:g.149526724T>G	ENSP00000258484:p.Leu382Trp		Somatic					p.L382W	NM_015630.3	NP_056445.3	WXS	Illumina GAIIx	Phase_I	Q52LR7	EPC2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0516)	8	1179	+			382					B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	Missense_Mutation	SNP	ENST00000258484.6	37	c.1145T>G	CCDS46422.1	.	.	.	.	.	.	.	.	.	.	T	13.22	2.171724	0.38315	.	.	ENSG00000135999	ENST00000258484	T	0.19105	2.17	5.88	4.05	0.47172	.	0.205185	0.42964	D	0.000630	T	0.17916	0.0430	L	0.39898	1.24	0.80722	D	1	P	0.34699	0.464	B	0.32980	0.156	T	0.02345	-1.1173	10	0.38643	T	0.18	1.8235	12.342	0.55099	0.0:0.8593:0.0:0.1407	.	382	Q52LR7	EPC2_HUMAN	W	382	ENSP00000258484:L382W	ENSP00000258484:L382W	L	+	2	0	EPC2	149243194	0.990000	0.36364	0.804000	0.32291	0.702000	0.40608	2.794000	0.47853	0.781000	0.33589	-0.242000	0.12053	TTG		0.378	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332278.1	NM_015630		5	33	5	33	---	---	---	---
COL5A2	1290	broad.mit.edu	37	2	189918665	189918665	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr2:189918665C>A	ENST00000374866.3	-	37	2729	c.2455G>T	c.(2455-2457)Ggt>Tgt	p.G819C		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	819					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.G819C(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCTCGAGGACCAGGTTCACCC	0.423																																						ENST00000374866.3																			1	Substitution - Missense(1)	p.G819C(1)	prostate(1)	NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95						c.(2455-2457)Ggt>Tgt		collagen, type V, alpha 2							41.0	42.0	42.0					2																	189918665		2203	4300	6503	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189918665C>A	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.2455G>T	2.37:g.189918665C>A	ENSP00000364000:p.Gly819Cys		Somatic					p.G819C	NM_000393.3	NP_000384.2	WXS	Illumina GAIIx	Phase_I	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		37	2729	-			819					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.2455G>T	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.237254	0.79800	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.99369	-5.78	5.93	5.93	0.95920	.	0.000000	0.53938	D	0.000059	D	0.99718	0.9891	H	0.97940	4.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97432	1.0016	9	.	.	.	.	20.3495	0.98807	0.0:1.0:0.0:0.0	.	459;819	Q5PR22;P05997	.;CO5A2_HUMAN	C	819;459	ENSP00000364000:G819C	.	G	-	1	0	COL5A2	189626910	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.765000	0.85310	2.814000	0.96858	0.591000	0.81541	GGT		0.423	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		3	50	3	50	---	---	---	---
ULK4	54986	broad.mit.edu	37	3	41949428	41949428	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr3:41949428C>A	ENST00000301831.4	-	12	1553	c.1091G>T	c.(1090-1092)cGt>cTt	p.R364L	ULK4_ENST00000420927.1_Missense_Mutation_p.R364L	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	364					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R364L(2)		breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GGGAGTAGGACGAGAACTGAA	0.408																																						ENST00000301831.4																			2	Substitution - Missense(2)	p.R364L(2)	prostate(2)	breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22						c.(1090-1092)cGt>cTt		unc-51 like kinase 4							98.0	97.0	98.0					3																	41949428		1865	4097	5962	SO:0001583	missense	54986						ATP binding|protein serine/threonine kinase activity	g.chr3:41949428C>A	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.1091G>T	3.37:g.41949428C>A	ENSP00000301831:p.Arg364Leu		Somatic				ULK4_ENST00000420927.1_Missense_Mutation_p.R364L	p.R364L	NM_017886.2	NP_060356.2	WXS	Illumina GAIIx	Phase_I	Q96C45	ULK4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	12	1553	-			364					A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	c.1091G>T	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.661761	0.88154	.	.	ENSG00000168038	ENST00000301831;ENST00000420927	T;T	0.67865	0.5;-0.29	5.68	5.68	0.88126	.	0.118609	0.53938	D	0.000056	T	0.76744	0.4030	L	0.47190	1.495	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.68943	0.912;0.961	T	0.77075	-0.2722	10	0.56958	D	0.05	.	16.6953	0.85334	0.0:1.0:0.0:0.0	.	364;364	B4E2M4;Q96C45	.;ULK4_HUMAN	L	364	ENSP00000301831:R364L;ENSP00000412187:R364L	ENSP00000301831:R364L	R	-	2	0	ULK4	41924432	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.775000	0.62346	2.675000	0.91044	0.655000	0.94253	CGT		0.408	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989		29	83	29	83	---	---	---	---
FAM13B	51306	broad.mit.edu	37	5	137277736	137277736	+	Splice_Site	SNP	T	T	C			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr5:137277736T>C	ENST00000033079.3	-	22	2974		c.e22-2		FAM13B_ENST00000420893.2_Splice_Site|PKD2L2_ENST00000508883.1_Intron|FAM13B_ENST00000425075.2_Splice_Site	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B						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.?(1)		endometrium(4)|kidney(2)|lung(5)	11						AATTCAGGCCTAGAATTGAAA	0.368																																						ENST00000033079.3																			1	Unknown(1)	p.?(1)	prostate(1)	endometrium(4)|kidney(2)|lung(5)	11						c.e22-2		family with sequence similarity 13, member B							84.0	81.0	82.0					5																	137277736		2203	4298	6501	SO:0001630	splice_region_variant	51306				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr5:137277736T>C	AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"""Rho GTPase activating proteins"""	1335	protein-coding gene	gene with protein product		609371	"""chromosome 5 open reading frame 5"", ""family with sequence similarity 13, member B1"""	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.2523-2A>G	5.37:g.137277736T>C			Somatic				PKD2L2_ENST00000508883.1_Intron|FAM13B_ENST00000420893.2_Splice_Site|FAM13B_ENST00000425075.2_Splice_Site		NM_016603.2	NP_057687.2	WXS	Illumina GAIIx	Phase_I	Q9NYF5	FA13B_HUMAN			22	2974	-								D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Splice_Site	SNP	ENST00000033079.3	37		CCDS4195.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.559682	0.86335	.	.	ENSG00000031003	ENST00000033079;ENST00000425075;ENST00000420893	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6992	0.77528	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM13B	137305635	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.407000	0.80029	2.124000	0.65301	0.528000	0.53228	.		0.368	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251279.1		Intron	3	118	3	118	---	---	---	---
PCDHB8	56128	broad.mit.edu	37	5	140558062	140558062	+	Silent	SNP	T	T	A			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr5:140558062T>A	ENST00000239444.2	+	1	692	c.447T>A	c.(445-447)ccT>ccA	p.P149P	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	149	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P149P(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGTCCTCCTGGGACTGCGT	0.413																																						ENST00000239444.2																			1	Substitution - coding silent(1)	p.P149P(1)	prostate(1)	NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83						c.(445-447)ccT>ccA									68.0	105.0	92.0					5																	140558062		2203	4300	6503	SO:0001819	synonymous_variant	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140558062T>A	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.447T>A	5.37:g.140558062T>A			Somatic					p.P149P	NM_019120.3	NP_061993.2	WXS	Illumina GAIIx	Phase_I	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	692	+			149			Cadherin 2.		B9EGV1	Silent	SNP	ENST00000239444.2	37	c.447T>A	CCDS4250.1																																																																																				0.413	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		91	395	91	395	---	---	---	---
PCDHGB7	56099	broad.mit.edu	37	5	140798265	140798265	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr5:140798265C>T	ENST00000398594.2	+	1	839	c.839C>T	c.(838-840)tCc>tTc	p.S280F	PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	280	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S280F(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCACTTATTCCTTCTTTGGT	0.493																																						ENST00000398594.2																			1	Substitution - Missense(1)	p.S280F(1)	prostate(1)	central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56						c.(838-840)tCc>tTc									48.0	49.0	48.0					5																	140798265		2020	4188	6208	SO:0001583	missense	56099							g.chr5:140798265C>T	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.839C>T	5.37:g.140798265C>T	ENSP00000381594:p.Ser280Phe		Somatic				PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron	p.S280F	NM_018927.3	NP_061750.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	839	+								Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	c.839C>T	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	c	10.07	1.249697	0.22880	.	.	ENSG00000254122	ENST00000398594	T	0.55052	0.54	5.7	5.7	0.88788	Cadherin (4);Cadherin-like (1);	0.279023	0.18927	U	0.127317	T	0.53932	0.1827	L	0.60904	1.88	0.31562	N	0.6574	B;B	0.23058	0.045;0.079	B;B	0.29176	0.071;0.099	T	0.59579	-0.7428	10	0.51188	T	0.08	.	15.7954	0.78407	0.0:0.8637:0.1363:0.0	.	280;280	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	F	280	ENSP00000381594:S280F	ENSP00000381594:S280F	S	+	2	0	PCDHGB7	140778449	0.000000	0.05858	0.995000	0.50966	0.089000	0.18198	-0.579000	0.05834	2.711000	0.92665	0.561000	0.74099	TCC		0.493	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		30	43	30	43	---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32018029	32018029	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr6:32018029C>T	ENST00000375244.3	-	27	9386	c.9185G>A	c.(9184-9186)cGc>cAc	p.R3062H	TNXB_ENST00000375247.2_Missense_Mutation_p.R3060H			P22105	TENX_HUMAN	tenascin XB	3107	Fibronectin type-III 22. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.R3127H(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTCCCCCAGGCGAGGCTTGAT	0.627																																						ENST00000375244.3																			2	Substitution - Missense(2)	p.R3127H(2)	prostate(1)|central_nervous_system(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(9184-9186)cGc>cAc		tenascin XB							98.0	108.0	105.0					6																	32018029		1265	2534	3799	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32018029C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.9185G>A	6.37:g.32018029C>T	ENSP00000364393:p.Arg3062His		Somatic				TNXB_ENST00000375247.2_Missense_Mutation_p.R3060H	p.R3062H			WXS	Illumina GAIIx	Phase_I	P22105	TENX_HUMAN			27	9386	-			3107			Fibronectin type-III 22.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.9185G>A		.	.	.	.	.	.	.	.	.	.	c	8.583	0.882855	0.17467	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.57273	0.61;0.41	3.59	-4.08	0.03963	.	1.760500	0.02907	N	0.136245	T	0.21881	0.0527	L	0.55213	1.73	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.21724	-1.0237	10	0.48119	T	0.1	.	3.8022	0.08763	0.2688:0.3307:0.0:0.4005	.	3060	P22105-3	.	H	3062;3060	ENSP00000364393:R3062H;ENSP00000364396:R3060H	ENSP00000364393:R3062H	R	-	2	0	TNXB	32126007	0.000000	0.05858	0.099000	0.21106	0.701000	0.40568	-3.649000	0.00404	-0.841000	0.04200	-0.380000	0.06706	CGC		0.627	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		42	85	42	85	---	---	---	---
COL11A2	1302	broad.mit.edu	37	6	33135619	33135619	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr6:33135619C>A	ENST00000374708.4	-	53	3971	c.3713G>T	c.(3712-3714)gGc>gTc	p.G1238V	COL11A2_ENST00000374714.1_Missense_Mutation_p.G1298V|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000361917.1_Missense_Mutation_p.G1217V|COL11A2_ENST00000357486.1_Missense_Mutation_p.G1303V|COL11A2_ENST00000374712.1_Missense_Mutation_p.G1243V|COL11A2_ENST00000395197.1_Missense_Mutation_p.G1264V|COL11A2_ENST00000374713.1_Missense_Mutation_p.G1277V|COL11A2_ENST00000341947.2_Missense_Mutation_p.G1324V	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1324	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.G1324V(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						ACCAGGCGAGCCAGCAGGACC	0.637																																					Melanoma(1;90 116 3946 5341 17093)	ENST00000341947.2																			1	Substitution - Missense(1)	p.G1324V(1)	prostate(1)	biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(3970-3972)gGc>gTc		collagen, type XI, alpha 2							79.0	50.0	60.0					6																	33135619		1511	2708	4219	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33135619C>A	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.3713G>T	6.37:g.33135619C>A	ENSP00000363840:p.Gly1238Val		Somatic				COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000357486.1_Missense_Mutation_p.G1303V|COL11A2_ENST00000374708.4_Missense_Mutation_p.G1238V|COL11A2_ENST00000374713.1_Missense_Mutation_p.G1277V|COL11A2_ENST00000361917.1_Missense_Mutation_p.G1217V|COL11A2_ENST00000395197.1_Missense_Mutation_p.G1264V|COL11A2_ENST00000374714.1_Missense_Mutation_p.G1298V|COL11A2_ENST00000374712.1_Missense_Mutation_p.G1243V	p.G1324V	NM_080680.2	NP_542411.2	WXS	Illumina GAIIx	Phase_I	P13942	COBA2_HUMAN			55	4198	-			1324			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.3971G>T	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.104917	0.37145	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	D;D;D;D;D;D;D;D	0.99186	-3.64;-5.53;-5.53;-5.53;-4.29;-3.64;-4.29;-4.29	4.37	4.37	0.52481	.	0.000000	0.85682	D	0.000000	D	0.99510	0.9825	H	0.96015	3.755	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.98111	1.0420	10	0.87932	D	0	.	14.5034	0.67737	0.0:1.0:0.0:0.0	.	1217;1238;1324	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	V	1238;1324;1303;1298;1277;1264;1243;1217	ENSP00000363840:G1238V;ENSP00000339915:G1324V;ENSP00000350079:G1303V;ENSP00000363846:G1298V;ENSP00000363845:G1277V;ENSP00000378623:G1264V;ENSP00000363844:G1243V;ENSP00000355123:G1217V	ENSP00000339915:G1324V	G	-	2	0	COL11A2	33243597	1.000000	0.71417	0.978000	0.43139	0.099000	0.18886	7.486000	0.81215	2.263000	0.75096	0.442000	0.29010	GGC		0.637	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			3	37	3	37	---	---	---	---
DAAM2	23500	broad.mit.edu	37	6	39828787	39828787	+	Silent	SNP	G	G	A			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr6:39828787G>A	ENST00000398904.2	+	3	434	c.252G>A	c.(250-252)aaG>aaA	p.K84K	DAAM2_ENST00000538976.1_Silent_p.K84K|DAAM2_ENST00000405961.3_Silent_p.K84K|DAAM2_ENST00000494405.1_3'UTR|DAAM2_ENST00000274867.4_Silent_p.K84K			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	84	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)			p.K84K(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					ACTGCAGCAAGAAGAAGGTGC	0.502																																						ENST00000538976.1																			1	Substitution - coding silent(1)	p.K84K(1)	prostate(1)	NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49						c.(250-252)aaG>aaA		dishevelled associated activator of morphogenesis 2							87.0	81.0	83.0					6																	39828787		1954	4139	6093	SO:0001819	synonymous_variant	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39828787G>A	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.252G>A	6.37:g.39828787G>A			Somatic				DAAM2_ENST00000494405.1_3'UTR|DAAM2_ENST00000398904.2_Silent_p.K84K|DAAM2_ENST00000405961.3_Silent_p.K84K|DAAM2_ENST00000274867.4_Silent_p.K84K	p.K84K	NM_015345.3	NP_056160.2	WXS	Illumina GAIIx	Phase_I	Q86T65	DAAM2_HUMAN			3	434	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		84			GBD/FH3.		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Silent	SNP	ENST00000398904.2	37	c.252G>A	CCDS56426.1																																																																																				0.502	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			7	22	7	22	---	---	---	---
NKX3-1	4824	broad.mit.edu	37	8	23539003	23539003	+	Missense_Mutation	SNP	G	G	C	rs534833600		TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr8:23539003G>C	ENST00000380871.4	-	2	473	c.436C>G	c.(436-438)Cag>Gag	p.Q146E	NKX3-1_ENST00000523261.1_Missense_Mutation_p.Q71E	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN	NK3 homeobox 1	146					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|androgen receptor signaling pathway (GO:0030521)|branching involved in prostate gland morphogenesis (GO:0060442)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to steroid hormone stimulus (GO:0071383)|cellular response to tumor necrosis factor (GO:0071356)|dorsal aorta development (GO:0035907)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|heart development (GO:0007507)|male gonad development (GO:0008584)|metanephros development (GO:0001656)|mitotic cell cycle arrest (GO:0071850)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of transcription, DNA-templated (GO:0045892)|pharyngeal system development (GO:0060037)|positive regulation of androgen secretion (GO:2000836)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell death (GO:0010942)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein kinase B signaling (GO:0043491)|regulation of transcription, DNA-templated (GO:0006355)|response to testosterone (GO:0033574)|salivary gland development (GO:0007431)|somitogenesis (GO:0001756)|steroid hormone mediated signaling pathway (GO:0043401)	intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|core promoter binding (GO:0001047)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|histone deacetylase binding (GO:0042826)|protein kinase activator activity (GO:0030295)|protein self-association (GO:0043621)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.Q146E(1)		large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		AGGTACTTCTGATGGCTGAAC	0.572																																						ENST00000380871.4																			1	Substitution - Missense(1)	p.Q146E(1)	prostate(1)	large_intestine(3)|lung(4)|prostate(5)|skin(2)	14						c.(436-438)Cag>Gag		NK3 homeobox 1							135.0	139.0	138.0					8																	23539003		2203	4300	6503	SO:0001583	missense	4824				negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding	g.chr8:23539003G>C		CCDS6042.1, CCDS59095.1	8p21.2	2012-03-09	2007-07-09	2002-10-04	ENSG00000167034	ENSG00000167034		"""Homeoboxes / ANTP class : NKL subclass"""	7838	protein-coding gene	gene with protein product		602041	"""NK homeobox (Drosophila), family 3, A"", ""NK3 transcription factor related, locus 1 (Drosophila)"""	NKX3A		9226374	Standard	NM_006167		Approved	NKX3.1, BAPX2	uc011kzx.2	Q99801	OTTHUMG00000097851	ENST00000380871.4:c.436C>G	8.37:g.23539003G>C	ENSP00000370253:p.Gln146Glu		Somatic				NKX3-1_ENST00000523261.1_Missense_Mutation_p.Q71E	p.Q146E	NM_006167.3	NP_006158.2	WXS	Illumina GAIIx	Phase_I	Q99801	NKX31_HUMAN		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)	2	473	-		Prostate(55;0.114)	146					O15465|Q9H2P4|Q9H2P5|Q9H2P6|Q9H2P7|Q9HBG0	Missense_Mutation	SNP	ENST00000380871.4	37	c.436C>G	CCDS6042.1	.	.	.	.	.	.	.	.	.	.	G	32	5.108162	0.94292	.	.	ENSG00000167034	ENST00000380871;ENST00000300332;ENST00000523261	D;D	0.95588	-3.75;-3.75	6.17	6.17	0.99709	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.074935	0.53938	D	0.000058	D	0.97707	0.9248	M	0.76838	2.35	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.97869	1.0285	10	0.87932	D	0	.	18.3732	0.90420	0.0:0.0:1.0:0.0	.	146	Q99801	NKX31_HUMAN	E	146;102;71	ENSP00000370253:Q146E;ENSP00000429729:Q71E	ENSP00000300332:Q102E	Q	-	1	0	NKX3-1	23594948	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.841000	0.99482	2.941000	0.99782	0.655000	0.94253	CAG		0.572	NKX3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215141.2			5	308	5	308	---	---	---	---
CSPP1	79848	broad.mit.edu	37	8	68007736	68007736	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr8:68007736T>C	ENST00000262210.5	+	6	750	c.719T>C	c.(718-720)aTt>aCt	p.I240T	CSPP1_ENST00000412460.1_5'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	275					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)		p.I240T(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AATAGAAGAATTATTAAAAAA	0.373																																						ENST00000262210.5																			1	Substitution - Missense(1)	p.I240T(1)	prostate(1)	NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49						c.(718-720)aTt>aCt		centrosome and spindle pole associated protein 1							78.0	72.0	74.0					8																	68007736		1832	4082	5914	SO:0001583	missense	79848					centrosome|microtubule|spindle		g.chr8:68007736T>C	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.719T>C	8.37:g.68007736T>C	ENSP00000262210:p.Ile240Thr		Somatic				CSPP1_ENST00000412460.1_5'UTR	p.I240T	NM_024790.6	NP_079066.5	WXS	Illumina GAIIx	Phase_I	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		6	750	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	275					A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.719T>C	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	T	10.78	1.446516	0.25987	.	.	ENSG00000104218	ENST00000262210;ENST00000389042	T	0.76448	-1.02	5.88	1.75	0.24633	.	5.400680	0.02018	U	0.047545	T	0.69691	0.3139	L	0.43152	1.355	0.09310	N	0.999999	B;B;B	0.27679	0.185;0.152;0.152	B;B;B	0.21708	0.031;0.036;0.036	T	0.50398	-0.8833	10	0.31617	T	0.26	0.5947	5.1292	0.14901	0.1392:0.2278:0.0:0.6329	.	240;275;275	Q1MSJ5-1;Q1MSJ5;F8W7C3	.;CSPP1_HUMAN;.	T	240;275	ENSP00000262210:I240T	ENSP00000262210:I240T	I	+	2	0	CSPP1	68170290	0.007000	0.16637	0.030000	0.17652	0.991000	0.79684	1.195000	0.32186	0.460000	0.27045	0.491000	0.48974	ATT		0.373	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		4	161	4	161	---	---	---	---
CFAP70	118491	broad.mit.edu	37	10	75072385	75072385	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr10:75072385C>T	ENST00000310715.3	-	11	1259	c.1139G>A	c.(1138-1140)aGc>aAc	p.S380N	TTC18_ENST00000394865.1_Missense_Mutation_p.S380N|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000401621.2_Missense_Mutation_p.S380N	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		380						extracellular vesicular exosome (GO:0070062)		p.S380N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CCGGAACAAGCTCAATAAACA	0.294																																						ENST00000310715.3																			1	Substitution - Missense(1)	p.S380N(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1138-1140)aGc>aAc		tetratricopeptide repeat domain 18							90.0	102.0	98.0					10																	75072385		2203	4300	6503	SO:0001583	missense	118491						binding	g.chr10:75072385C>T																												ENST00000310715.3:c.1139G>A	10.37:g.75072385C>T	ENSP00000310829:p.Ser380Asn		Somatic				TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000394865.1_Missense_Mutation_p.S380N|TTC18_ENST00000401621.2_Missense_Mutation_p.S380N	p.S380N	NM_145170.3	NP_660153.3	WXS	Illumina GAIIx	Phase_I	Q5T0N1	TTC18_HUMAN			11	1259	-	Prostate(51;0.0119)		380					C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Missense_Mutation	SNP	ENST00000310715.3	37	c.1139G>A	CCDS7324.3	.	.	.	.	.	.	.	.	.	.	C	15.87	2.961362	0.53400	.	.	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000372928;ENST00000394865	T;T;T	0.35421	1.73;1.73;1.31	4.94	4.94	0.65067	.	0.188538	0.44688	D	0.000423	T	0.54224	0.1845	L	0.56769	1.78	0.46954	D	0.999268	D;P	0.89917	1.0;0.825	D;B	0.87578	0.998;0.222	T	0.48175	-0.9058	10	0.32370	T	0.25	-0.8239	14.0064	0.64465	0.0:1.0:0.0:0.0	.	380;380	Q5T0N1-2;Q5T0N1	.;TTC18_HUMAN	N	380	ENSP00000310829:S380N;ENSP00000384479:S380N;ENSP00000378334:S380N	ENSP00000310829:S380N	S	-	2	0	TTC18	74742391	1.000000	0.71417	0.997000	0.53966	0.580000	0.36256	3.748000	0.55142	2.434000	0.82447	0.585000	0.79938	AGC		0.294	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				9	292	9	292	---	---	---	---
ZBTB3	79842	broad.mit.edu	37	11	62519844	62519844	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr11:62519844G>C	ENST00000394807.3	-	2	1568	c.1443C>G	c.(1441-1443)ttC>ttG	p.F481L		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	481					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.F481L(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						AAGAGCATGAGAAGGTCTTCC	0.552																																						ENST00000394807.3																			1	Substitution - Missense(1)	p.F481L(1)	prostate(1)	breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						c.(1441-1443)ttC>ttG		zinc finger and BTB domain containing 3							79.0	71.0	74.0					11																	62519844		2202	4299	6501	SO:0001583	missense	79842				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:62519844G>C	AK027045	CCDS8034.1	11q12.3	2013-01-09				ENSG00000185670		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	22918	protein-coding gene	gene with protein product							Standard	NM_024784		Approved	FLJ23392	uc001nuz.3	Q9H5J0		ENST00000394807.3:c.1443C>G	11.37:g.62519844G>C	ENSP00000378286:p.Phe481Leu		Somatic					p.F481L	NM_024784.3	NP_079060.1	WXS	Illumina GAIIx	Phase_I	Q9H5J0	ZBTB3_HUMAN			2	1568	-			481						Missense_Mutation	SNP	ENST00000394807.3	37	c.1443C>G	CCDS8034.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.163839	0.57476	.	.	ENSG00000185670	ENST00000394807	T	0.12879	2.64	4.72	3.81	0.43845	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.30665	0.0772	M	0.65677	2.01	0.34109	D	0.662715	D	0.76494	0.999	D	0.80764	0.994	T	0.43766	-0.9371	10	0.87932	D	0	.	7.3941	0.26926	0.1979:0.0:0.8021:0.0	.	481	Q9H5J0	ZBTB3_HUMAN	L	481	ENSP00000378286:F481L	ENSP00000378286:F481L	F	-	3	2	ZBTB3	62276420	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	3.319000	0.51983	0.985000	0.38656	0.561000	0.74099	TTC		0.552	ZBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395342.1	NM_024784		16	106	16	106	---	---	---	---
TAF1D	79101	broad.mit.edu	37	11	93471531	93471531	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr11:93471531G>A	ENST00000448108.2	-	3	853	c.203C>T	c.(202-204)tCa>tTa	p.S68L	TAF1D_ENST00000546088.1_5'Flank	NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa	68					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S68L(1)		large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						TTCAAAAGATGAGTCACTTGA	0.363																																						ENST00000448108.2																			1	Substitution - Missense(1)	p.S68L(1)	prostate(1)	large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						c.(202-204)tCa>tTa		TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa							77.0	79.0	78.0					11																	93471531		2200	4298	6498	SO:0001583	missense	79101				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr11:93471531G>A		CCDS8293.1	11q21	2012-05-30	2008-09-30	2008-09-30	ENSG00000166012	ENSG00000166012			28759	protein-coding gene	gene with protein product		612823	"""Josephin domain containing 3"""	JOSD3		15520167, 17318177	Standard	NM_024116		Approved	MGC5306, TAF(I)41	uc001pec.3	Q9H5J8	OTTHUMG00000167451	ENST00000448108.2:c.203C>T	11.37:g.93471531G>A	ENSP00000410409:p.Ser68Leu		Somatic					p.S68L	NM_024116.3	NP_077021.1	WXS	Illumina GAIIx	Phase_I	Q9H5J8	TAF1D_HUMAN			3	853	-			68					Q6I9Y6	Missense_Mutation	SNP	ENST00000448108.2	37	c.203C>T	CCDS8293.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.971915	0.34754	.	.	ENSG00000166012	ENST00000448108	.	.	.	5.45	5.45	0.79879	.	0.089238	0.48767	D	0.000171	T	0.77329	0.4114	M	0.68952	2.095	0.49299	D	0.999774	D	0.89917	1.0	D	0.85130	0.997	T	0.78763	-0.2077	9	0.72032	D	0.01	-23.2453	15.1536	0.72723	0.0:0.0:1.0:0.0	.	68	Q9H5J8	TAF1D_HUMAN	L	68	.	ENSP00000314971:S68L	S	-	2	0	TAF1D	93111179	0.999000	0.42202	0.717000	0.30585	0.767000	0.43475	2.884000	0.48562	2.716000	0.92895	0.655000	0.94253	TCA		0.363	TAF1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394662.2	NM_024116		93	178	93	178	---	---	---	---
KRT6C	286887	broad.mit.edu	37	12	52864359	52864359	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr12:52864359T>A	ENST00000252250.6	-	6	1180	c.1133A>T	c.(1132-1134)aAg>aTg	p.K378M		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	378	Coil 2.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.K378M(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		AATCTCCTGCTTGGTGTTGCG	0.552																																						ENST00000252250.6																			1	Substitution - Missense(1)	p.K378M(1)	prostate(1)	cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23						c.(1132-1134)aAg>aTg		keratin 6C							158.0	126.0	137.0					12																	52864359		2203	4297	6500	SO:0001583	missense	286887				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:52864359T>A	L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20406	protein-coding gene	gene with protein product		612315	"""keratin 6E"""	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.1133A>T	12.37:g.52864359T>A	ENSP00000252250:p.Lys378Met		Somatic					p.K378M	NM_173086.4	NP_775109.2	WXS	Illumina GAIIx	Phase_I	P48668	K2C6C_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0828)	6	1180	-			378			Coil 2.|Rod.		A1L4L5|P48666|Q2TAZ9|Q7RTN9	Missense_Mutation	SNP	ENST00000252250.6	37	c.1133A>T	CCDS8829.1	.	.	.	.	.	.	.	.	.	.	T	19.46	3.831414	0.71258	.	.	ENSG00000170465	ENST00000252250;ENST00000411979	D	0.91068	-2.78	3.5	3.5	0.40072	Filament (1);	0.000000	0.64402	D	0.000006	D	0.97309	0.9120	H	0.99415	4.555	0.45046	D	0.998069	D	0.89917	1.0	D	0.87578	0.998	D	0.97794	1.0240	10	0.87932	D	0	.	12.4636	0.55745	0.0:0.0:0.0:1.0	.	378	P48668	K2C6C_HUMAN	M	378;363	ENSP00000252250:K378M	ENSP00000252250:K378M	K	-	2	0	KRT6C	51150626	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.259000	0.51515	1.575000	0.49775	0.368000	0.22195	AAG		0.552	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1	NM_173086		18	181	18	181	---	---	---	---
SLC6A15	55117	broad.mit.edu	37	12	85266407	85266407	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr12:85266407A>T	ENST00000266682.5	-	8	1817	c.1276T>A	c.(1276-1278)Tgt>Agt	p.C426S	SLC6A15_ENST00000551388.1_5'Flank|SLC6A15_ENST00000552192.1_Missense_Mutation_p.C319S|SLC6A15_ENST00000309283.7_Missense_Mutation_p.C134S	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	426					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)	p.C426S(1)		kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TCAATTTTACAGGAATTGAGA	0.318																																						ENST00000266682.5																			1	Substitution - Missense(1)	p.C426S(1)	prostate(1)	kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						c.(1276-1278)Tgt>Agt		solute carrier family 6 (neutral amino acid transporter), member 15							60.0	64.0	62.0					12																	85266407		2203	4298	6501	SO:0001583	missense	55117				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr12:85266407A>T	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.1276T>A	12.37:g.85266407A>T	ENSP00000266682:p.Cys426Ser		Somatic				SLC6A15_ENST00000552192.1_Missense_Mutation_p.C319S|SLC6A15_ENST00000309283.7_Missense_Mutation_p.C134S	p.C426S	NM_182767.5	NP_877499.1	WXS	Illumina GAIIx	Phase_I	Q9H2J7	S6A15_HUMAN			8	1817	-			426					A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	ENST00000266682.5	37	c.1276T>A	CCDS9026.1	.	.	.	.	.	.	.	.	.	.	A	16.15	3.041193	0.55003	.	.	ENSG00000072041	ENST00000309283;ENST00000266682;ENST00000318721;ENST00000552192;ENST00000551818	T;T;T	0.80033	-1.33;-0.82;-1.02	5.34	4.18	0.49190	.	0.235184	0.52532	D	0.000061	D	0.85423	0.5693	M	0.93016	3.37	0.80722	D	1	B;B	0.28512	0.214;0.021	B;B	0.34180	0.168;0.177	D	0.84374	0.0545	10	0.87932	D	0	.	11.53	0.50604	0.8655:0.0:0.0:0.1345	.	134;426	F8WJN6;Q9H2J7	.;S6A15_HUMAN	S	134;426;142;319;134	ENSP00000311645:C134S;ENSP00000266682:C426S;ENSP00000450145:C319S	ENSP00000266682:C426S	C	-	1	0	SLC6A15	83790538	1.000000	0.71417	0.974000	0.42286	0.955000	0.61496	6.561000	0.73955	0.827000	0.34685	0.460000	0.39030	TGT		0.318	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767		4	159	4	159	---	---	---	---
TPCN1	53373	broad.mit.edu	37	12	113733848	113733848	+	Silent	SNP	A	A	T			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr12:113733848A>T	ENST00000335509.6	+	28	2732	c.2418A>T	c.(2416-2418)ccA>ccT	p.P806P	TPCN1_ENST00000550785.1_Silent_p.P878P|TPCN1_ENST00000541517.1_Silent_p.P878P|TPCN1_ENST00000392569.4_Silent_p.P738P	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	806					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)	p.P806P(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						AGCAGCCCCCAGGCAGCCGCC	0.597																																						ENST00000550785.1																			1	Substitution - coding silent(1)	p.P806P(1)	prostate(1)	cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						c.(2632-2634)ccA>ccT		two pore segment channel 1							28.0	34.0	32.0					12																	113733848		2203	4300	6503	SO:0001819	synonymous_variant	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113733848A>T	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.2418A>T	12.37:g.113733848A>T			Somatic				TPCN1_ENST00000541517.1_Silent_p.P878P|TPCN1_ENST00000392569.4_Silent_p.P738P|TPCN1_ENST00000335509.6_Silent_p.P806P	p.P878P	NM_001143819.1	NP_001137291.1	WXS	Illumina GAIIx	Phase_I	Q9ULQ1	TPC1_HUMAN			29	2803	+			806					A7E258|Q86XS9|Q8NC20	Silent	SNP	ENST00000335509.6	37	c.2634A>T	CCDS31908.1																																																																																				0.597	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		23	41	23	41	---	---	---	---
TMEM132B	114795	broad.mit.edu	37	12	126068419	126068419	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr12:126068419C>T	ENST00000299308.3	+	5	1309	c.1301C>T	c.(1300-1302)gCc>gTc	p.A434V		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	434						integral component of membrane (GO:0016021)		p.A434V(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TTGAACACTGCCATTCTCACT	0.542																																						ENST00000299308.3																			1	Substitution - Missense(1)	p.A434V(1)	prostate(1)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.(1300-1302)gCc>gTc		transmembrane protein 132B							245.0	238.0	240.0					12																	126068419		1981	4142	6123	SO:0001583	missense	114795					integral to membrane		g.chr12:126068419C>T	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1301C>T	12.37:g.126068419C>T	ENSP00000299308:p.Ala434Val		Somatic					p.A434V	NM_052907.2	NP_443139.2	WXS	Illumina GAIIx	Phase_I	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	5	1309	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		434					A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.1301C>T	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.765283	0.69878	.	.	ENSG00000139364	ENST00000299308	T	0.32753	1.44	4.83	4.83	0.62350	.	0.000000	0.36591	U	0.002509	T	0.58004	0.2092	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.64453	-0.6404	10	0.87932	D	0	.	16.7045	0.85368	0.0:1.0:0.0:0.0	.	434	Q14DG7	T132B_HUMAN	V	434	ENSP00000299308:A434V	ENSP00000299308:A434V	A	+	2	0	TMEM132B	124634372	1.000000	0.71417	0.996000	0.52242	0.147000	0.21601	6.698000	0.74608	2.218000	0.71995	0.655000	0.94253	GCC		0.542	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		8	476	8	476	---	---	---	---
AMDHD2	51005	broad.mit.edu	37	16	2570856	2570856	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr16:2570856A>G	ENST00000293971.6	+	2	264	c.170A>G	c.(169-171)gAc>gGc	p.D57G	AMDHD2_ENST00000302956.4_Missense_Mutation_p.D57G|ATP6C_ENST00000569317.1_Intron|AMDHD2_ENST00000413459.3_Missense_Mutation_p.D57G	NM_015944.3	NP_057028.2	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	57					carbohydrate metabolic process (GO:0005975)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylneuraminate catabolic process (GO:0019262)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-phosphate deacetylase activity (GO:0008448)	p.D57G(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						GAGCGGCGGGACTGCGGGGGC	0.692																																						ENST00000302956.4																			1	Substitution - Missense(1)	p.D57G(1)	prostate(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						c.(169-171)gAc>gGc		amidohydrolase domain containing 2							21.0	29.0	26.0					16																	2570856		2196	4294	6490	SO:0001583	missense	51005				N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity	g.chr16:2570856A>G	AF132948	CCDS10471.1, CCDS53984.1	16p13.3	2008-02-05			ENSG00000162066	ENSG00000162066			24262	protein-coding gene	gene with protein product						10810093	Standard	NM_001145815		Approved	CGI-14	uc010uwc.2	Q9Y303	OTTHUMG00000128866	ENST00000293971.6:c.170A>G	16.37:g.2570856A>G	ENSP00000293971:p.Asp57Gly		Somatic				AMDHD2_ENST00000293971.6_Missense_Mutation_p.D57G|ATP6C_ENST00000569317.1_Intron|AMDHD2_ENST00000413459.3_Missense_Mutation_p.D57G	p.D57G			WXS	Illumina GAIIx	Phase_I	Q9Y303	NAGA_HUMAN			2	264	+			57					B4DL77|Q8WV54	Missense_Mutation	SNP	ENST00000293971.6	37	c.170A>G		.	.	.	.	.	.	.	.	.	.	A	26.4	4.738129	0.89573	.	.	ENSG00000162066	ENST00000413459;ENST00000302956;ENST00000293971	T;T;T	0.71461	-0.18;2.61;-0.57	4.92	3.82	0.43975	Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.83986	0.5373	M	0.88181	2.935	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.79108	0.992;0.957;0.99	D	0.85873	0.1417	10	0.87932	D	0	-16.41	9.2455	0.37523	0.9121:0.0:0.0879:0.0	.	57;57;57	Q9Y303-3;Q9Y303;Q9Y303-2	.;NAGA_HUMAN;.	G	57	ENSP00000391596:D57G;ENSP00000307481:D57G;ENSP00000293971:D57G	ENSP00000293971:D57G	D	+	2	0	AMDHD2	2510857	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	7.013000	0.76373	1.966000	0.57179	0.379000	0.24179	GAC		0.692	AMDHD2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000435652.1	NM_015944		5	21	5	21	---	---	---	---
CENPT	80152	broad.mit.edu	37	16	67865092	67865092	+	Intron	SNP	G	G	C			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr16:67865092G>C	ENST00000562787.1	-	10	1252				CENPT_ENST00000440851.2_Intron|CENPT_ENST00000219172.3_Intron|CENPT_ENST00000564817.1_Intron|CENPT_ENST00000562947.1_Intron|CENPT_ENST00000445712.2_Missense_Mutation_p.L141V	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T						chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		TTTCCCCAAAGGCCAGCAGGG	0.592																																						ENST00000445712.2																			0				NS(1)|breast(2)|lung(6)|urinary_tract(1)	10						c.(421-423)Ctt>Gtt		centromere protein T							89.0	97.0	94.0					16																	67865092		1995	4180	6175	SO:0001627	intron_variant	80152				mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding	g.chr16:67865092G>C	AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"""chromosome 16 open reading frame 56"""	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3		ENST00000562787.1:c.703+26C>G	16.37:g.67865092G>C			Somatic				CENPT_ENST00000564817.1_Intron|CENPT_ENST00000562787.1_Intron|CENPT_ENST00000440851.2_Intron|CENPT_ENST00000562947.1_Intron|CENPT_ENST00000219172.3_Intron	p.L141V			WXS	Illumina GAIIx	Phase_I	Q96BT3	CENPT_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)	6	667	-		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)	0					Q96I29|Q96IC6|Q96NK9|Q9H901	Missense_Mutation	SNP	ENST00000562787.1	37	c.421C>G	CCDS42182.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.293812	0.60086	.	.	ENSG00000102901	ENST00000445712	T	0.50277	0.75	4.67	1.38	0.22167	.	.	.	.	.	T	0.24774	0.0601	.	.	.	0.09310	N	1	P	0.36633	0.562	B	0.34452	0.183	T	0.11842	-1.0571	8	0.17369	T	0.5	.	3.4357	0.07445	0.235:0.0:0.5686:0.1963	.	141	B4DMP9	.	V	141	ENSP00000411594:L141V	ENSP00000411594:L141V	L	-	1	0	CENPT	66422593	0.000000	0.05858	0.002000	0.10522	0.446000	0.32137	0.648000	0.24828	0.096000	0.17463	0.456000	0.33151	CTT		0.592	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1	NM_025082		29	259	29	259	---	---	---	---
FOXA3	3171	broad.mit.edu	37	19	46375689	46375689	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr19:46375689A>T	ENST00000302177.2	+	2	623	c.426A>T	c.(424-426)gaA>gaT	p.E142D		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	142					cell differentiation (GO:0030154)|cellular glucose homeostasis (GO:0001678)|cellular response to starvation (GO:0009267)|chromatin modification (GO:0016568)|endocrine pancreas development (GO:0031018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.E142D(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		CCTTGAGTGAAATCTACCAGT	0.567																																						ENST00000302177.2																			1	Substitution - Missense(1)	p.E142D(1)	prostate(1)	breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13						c.(424-426)gaA>gaT		forkhead box A3							122.0	117.0	119.0					19																	46375689		2203	4300	6503	SO:0001583	missense	3171				brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr19:46375689A>T	L12141	CCDS12677.1	19q13.32	2014-09-11		2002-09-20	ENSG00000170608	ENSG00000170608		"""Forkhead boxes"""	5023	protein-coding gene	gene with protein product		602295	"""hepatocyte nuclear factor 3, gamma"""	HNF3G		9119385	Standard	NM_004497		Approved		uc002pdr.3	P55318	OTTHUMG00000182484	ENST00000302177.2:c.426A>T	19.37:g.46375689A>T	ENSP00000304004:p.Glu142Asp		Somatic					p.E142D	NM_004497.2	NP_004488.2	WXS	Illumina GAIIx	Phase_I	P55318	FOXA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)	2	623	+		Ovarian(192;0.0308)|all_neural(266;0.0476)	142					A9LYI5|Q53F16|Q9UMW9	Missense_Mutation	SNP	ENST00000302177.2	37	c.426A>T	CCDS12677.1	.	.	.	.	.	.	.	.	.	.	A	17.18	3.323839	0.60634	.	.	ENSG00000170608	ENST00000302177	D	0.95821	-3.82	4.57	2.42	0.29668	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	D	0.000000	D	0.94460	0.8217	N	0.25380	0.74	0.80722	D	1	P	0.52170	0.951	D	0.70716	0.97	D	0.92391	0.5921	10	0.56958	D	0.05	.	7.6076	0.28112	0.2203:0.0:0.7797:0.0	.	142	P55318	FOXA3_HUMAN	D	142	ENSP00000304004:E142D	ENSP00000304004:E142D	E	+	3	2	FOXA3	51067529	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	3.695000	0.54749	0.504000	0.28082	-0.479000	0.04858	GAA		0.567	FOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461682.1			18	257	18	257	---	---	---	---
ZNF534	147658	broad.mit.edu	37	19	52937267	52937267	+	Silent	SNP	G	G	A			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr19:52937267G>A	ENST00000332323.6	+	2	136	c.75G>A	c.(73-75)ctG>ctA	p.L25L	ZNF534_ENST00000433050.1_Silent_p.L25L|ZNF534_ENST00000432303.2_Silent_p.L25L|ZNF534_ENST00000301085.4_Silent_p.L25L	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	25	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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.L25L(2)		central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						GGAAATGCCTGGACCCTGGGC	0.478																																						ENST00000332323.6																			2	Substitution - coding silent(2)	p.L25L(2)	prostate(2)	central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						c.(73-75)ctG>ctA		zinc finger protein 534							121.0	112.0	115.0					19																	52937267		1568	3582	5150	SO:0001819	synonymous_variant	147658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52937267G>A	AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"""Zinc fingers, C2H2-type"", ""-"""	26337	protein-coding gene	gene with protein product			"""KRAB domain only 3"""	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.75G>A	19.37:g.52937267G>A			Somatic				ZNF534_ENST00000432303.2_Silent_p.L25L|ZNF534_ENST00000433050.1_Silent_p.L25L|ZNF534_ENST00000301085.4_Silent_p.L25L	p.L25L	NM_001143939.1	NP_001137411.1	WXS	Illumina GAIIx	Phase_I	Q76KX8	ZN534_HUMAN			2	136	+			25			KRAB.		Q76KX9	Silent	SNP	ENST00000332323.6	37	c.75G>A	CCDS46165.1																																																																																				0.478	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460877.1	NM_182512		57	116	57	116	---	---	---	---
TPTE	7179	broad.mit.edu	37	21	10908828	10908828	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr21:10908828T>G	ENST00000361285.4	-	23	1846	c.1517A>C	c.(1516-1518)aAc>aCc	p.N506T	TPTE_ENST00000298232.7_Missense_Mutation_p.N488T|TPTE_ENST00000342420.5_Missense_Mutation_p.N468T|TPTE_ENST00000415664.2_5'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	506	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.N488T(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTCATACCTGTTATTTTCAAT	0.294																																						ENST00000298232.7																			1	Substitution - Missense(1)	p.N488T(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(1462-1464)aAc>aCc		transmembrane phosphatase with tensin homology							128.0	122.0	124.0					21																	10908828		2203	4297	6500	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10908828T>G	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1517A>C	21.37:g.10908828T>G	ENSP00000355208:p.Asn506Thr		Somatic				TPTE_ENST00000361285.4_Missense_Mutation_p.N506T|TPTE_ENST00000342420.5_Missense_Mutation_p.N468T|TPTE_ENST00000415664.2_5'UTR	p.N488T	NM_199259.2	NP_954868	WXS	Illumina GAIIx	Phase_I	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	22	1830	-			506			C2 tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.1463A>C	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	8.510	0.866346	0.17250	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.85861	-2.04;-2.04;-2.04	2.07	2.07	0.26955	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.175359	0.48286	U	0.000192	D	0.86003	0.5829	M	0.79475	2.455	0.37745	D	0.925758	P;P;B	0.51057	0.589;0.941;0.236	B;P;B	0.54312	0.439;0.748;0.18	T	0.83150	-0.0104	10	0.27082	T	0.32	.	3.8671	0.09021	0.0:0.1843:0.0:0.8157	.	468;488;506	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	T	488;506;468	ENSP00000298232:N488T;ENSP00000355208:N506T;ENSP00000344441:N468T	ENSP00000298232:N488T	N	-	2	0	TPTE	9930699	1.000000	0.71417	0.758000	0.31321	0.062000	0.15995	3.520000	0.53465	1.198000	0.43158	0.155000	0.16302	AAC		0.294	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			4	129	4	129	---	---	---	---
PRR5	55615	broad.mit.edu	37	22	45128196	45128196	+	Silent	SNP	G	G	C			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr22:45128196G>C	ENST00000336985.6	+	6	757	c.480G>C	c.(478-480)gtG>gtC	p.V160V	PRR5_ENST00000477331.1_3'UTR|PRR5-ARHGAP8_ENST00000361473.5_Intron|ARHGAP8_ENST00000517296.3_Silent_p.V160V|PRR5_ENST00000006251.7_Silent_p.V151V|PRR5-ARHGAP8_ENST00000352766.7_Silent_p.V160V|ARHGAP8_ENST00000389773.5_Intron|PRR5_ENST00000403581.1_Silent_p.V183V	NM_181333.3	NP_851850.1	P85299	PRR5_HUMAN	proline rich 5 (renal)	160					cell cycle (GO:0007049)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)	TORC2 complex (GO:0031932)		p.V160V(1)|p.V151V(1)		central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		CCCTCAGTGTGAAGCTAGAGG	0.682																																						ENST00000403581.1																			2	Substitution - coding silent(2)	p.V160V(1)|p.V151V(1)	prostate(2)	central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11						c.(547-549)gtG>gtC		proline rich 5 (renal)							58.0	52.0	54.0					22																	45128196		2203	4300	6503	SO:0001819	synonymous_variant	55615							g.chr22:45128196G>C	AF177331	CCDS14058.1, CCDS14059.1, CCDS56232.1, CCDS74875.1	22q13.3	2011-02-10			ENSG00000186654	ENSG00000186654			31682	protein-coding gene	gene with protein product	"""protein observed with Rictor-1"""	609406				15718101, 17599906	Standard	NM_001017528		Approved	PP610, FLJ20185k, Protor-1		P85299	OTTHUMG00000150460	ENST00000336985.6:c.480G>C	22.37:g.45128196G>C			Somatic				PRR5_ENST00000006251.7_Silent_p.V151V|ARHGAP8_ENST00000517296.3_Silent_p.V160V|PRR5-ARHGAP8_ENST00000361473.5_Intron|PRR5_ENST00000336985.6_Silent_p.V160V|PRR5_ENST00000477331.1_3'UTR|ARHGAP8_ENST00000389773.5_Intron|PRR5-ARHGAP8_ENST00000352766.7_Silent_p.V160V	p.V183V	NM_001198721.1	NP_001185650.1	WXS	Illumina GAIIx	Phase_I				UCEC - Uterine corpus endometrioid carcinoma (28;0.168)	8	1158	+		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)						B1AHF6|B1AHG5|B3KP73|O75983|O95695|Q5BIW2|Q5EAJ8|Q5EAJ9|Q5XKJ6|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Silent	SNP	ENST00000336985.6	37	c.549G>C	CCDS14058.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.362308	0.24684	.	.	ENSG00000186654	ENST00000455389	.	.	.	4.64	3.57	0.40892	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.9511	0.24546	0.0:0.1755:0.617:0.2075	.	.	.	.	S	120	.	.	X	+	2	2	PRR5	43506860	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.940000	0.28992	2.425000	0.82216	0.655000	0.94253	TGA		0.682	PRR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318200.2	NM_001017528		3	120	3	120	---	---	---	---
FAM127A	8933	broad.mit.edu	37	X	134166693	134166693	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chrX:134166693T>A	ENST00000257013.7	+	1	361	c.280T>A	c.(280-282)Tac>Aac	p.Y94N	FAM127A_ENST00000464369.1_Intron	NM_001078171.1	NP_001071639.1	O15255	CXX1_HUMAN	family with sequence similarity 127, member A	0						plasma membrane (GO:0005886)		p.Y94N(1)		endometrium(3)|urinary_tract(1)	4	Acute lymphoblastic leukemia(192;0.000127)					CCTCAATGATTACCGGGGCTT	0.642																																						ENST00000257013.7																			1	Substitution - Missense(1)	p.Y94N(1)	prostate(1)	endometrium(3)|urinary_tract(1)	4						c.(280-282)Tac>Aac		family with sequence similarity 127, member A							41.0	44.0	43.0					X																	134166693		2191	4292	6483	SO:0001583	missense	8933							g.chrX:134166693T>A	Y13374	CCDS43997.1	Xq26	2014-05-16	2006-11-16	2006-11-16	ENSG00000134590	ENSG00000134590			2569	protein-coding gene	gene with protein product		300213	"""CAAX box 1"""	CXX1		9403077, 15716091, 16093683	Standard	NM_001078171		Approved	Mart8, Mar8, MAR8C	uc004eyd.3	A6ZKI3	OTTHUMG00000022465	ENST00000257013.7:c.280T>A	X.37:g.134166693T>A	ENSP00000257013:p.Tyr94Asn		Somatic				FAM127A_ENST00000464369.1_Intron	p.Y94N	NM_001078171.1	NP_001071639.1	WXS	Illumina GAIIx	Phase_I	A6ZKI3	F127A_HUMAN			1	361	+	Acute lymphoblastic leukemia(192;0.000127)		94					Q6IBF1	Missense_Mutation	SNP	ENST00000257013.7	37	c.280T>A	CCDS43997.1	.	.	.	.	.	.	.	.	.	.	t	18.23	3.578990	0.65878	.	.	ENSG00000134590	ENST00000257013	T	0.29142	1.58	3.82	3.82	0.43975	.	.	.	.	.	T	0.49881	0.1583	M	0.65975	2.015	0.26056	N	0.981412	D	0.89917	1.0	D	0.76575	0.988	T	0.31696	-0.9934	9	0.72032	D	0.01	.	8.0893	0.30790	0.0:0.0:0.0:1.0	.	94	A6ZKI3	F127A_HUMAN	N	94	ENSP00000257013:Y94N	ENSP00000257013:Y94N	Y	+	1	0	FAM127A	133994359	0.997000	0.39634	0.983000	0.44433	0.905000	0.53344	1.360000	0.34125	1.726000	0.51525	0.441000	0.28932	TAC		0.642	FAM127A-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058391.2	NM_001078171		29	16	29	16	---	---	---	---
MT-CO1	4512	broad.mit.edu	37	M	3061	3061	+	5'Flank	SNP	G	G	A			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chrM:3061G>A	ENST00000361624.2	+	0	0				MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-ND2_ENST00000361453.3_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-TQ_ENST00000387372.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I						aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						TTAAAGTCCTACGTGATCTGA	0.443																																						ENST00000387347.2																			0																																																	SO:0001631	upstream_gene_variant	100616263							g.chrM:3061G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395			M.37:g.3061G>A	Exception_encountered		Somatic						NR_039705.1		WXS	Illumina GAIIx	Phase_I					0	1391	+								Q34770	RNA	SNP	ENST00000361624.2	37																																																																																						0.443	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024028		2	1	2	1	---	---	---	---
AIM2	9447	broad.mit.edu	37	1	159033322	159033322	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr1:159033322delT	ENST00000368130.4	-	5	1247	c.959delA	c.(958-960)aatfs	p.N320fs	AIM2_ENST00000411768.1_5'Flank	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	320	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to drug (GO:0035690)|cellular response to interferon-beta (GO:0035458)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein oligomerization (GO:0032461)|pyroptosis (GO:0070269)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)			breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					TTTTTCTCCATTTTTTGACAG	0.408																																						ENST00000368130.4																			0				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16						c.(958-960)aatfs		absent in melanoma 2							242.0	228.0	233.0					1																	159033322		2203	4300	6503	SO:0001589	frameshift_variant	9447				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus		g.chr1:159033322delT	AF024714	CCDS1181.1	1q22	2008-07-18			ENSG00000163568	ENSG00000163568			357	protein-coding gene	gene with protein product		604578				9242382	Standard	NM_004833		Approved	PYHIN4	uc001ftj.1	O14862	OTTHUMG00000037183	ENST00000368130.4:c.959delA	1.37:g.159033322delT	ENSP00000357112:p.Asn320fs		Somatic					p.N320fs	NM_004833.1	NP_004824.1	WXS	Illumina GAIIx	Phase_I	O14862	AIM2_HUMAN			5	1247	-	all_hematologic(112;0.0429)		320			HIN-200.		A8K7M7|Q5T3V9|Q96FG9	Frame_Shift_Del	DEL	ENST00000368130.4	37	c.959delA	CCDS1181.1																																																																																				0.408	AIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090341.1	NM_004833		209	379	209	379	---	---	---	---
TPR	7175	broad.mit.edu	37	1	186307316	186307316	+	Frame_Shift_Del	DEL	T	T	-	rs372907804		TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr1:186307316delT	ENST00000367478.4	-	31	4507	c.4211delA	c.(4210-4212)aatfs	p.N1404fs		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1404					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TCTTACTTTATTTAGATCTTC	0.294			T	NTRK1	papillary thyroid																																	ENST00000367478.4				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123						c.(4210-4212)aatfs		translocated promoter region, nuclear basket protein							125.0	111.0	115.0					1																	186307316		1814	4070	5884	SO:0001589	frameshift_variant	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186307316delT	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.4211delA	1.37:g.186307316delT	ENSP00000356448:p.Asn1404fs		Somatic					p.N1404fs	NM_003292.2	NP_003283.2	WXS	Illumina GAIIx	Phase_I	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	31	4507	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)						Q15655|Q5SWY0|Q99968	Frame_Shift_Del	DEL	ENST00000367478.4	37	c.4211delA	CCDS41446.1																																																																																				0.294	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		27	195	27	195	---	---	---	---
CNTN6	27255	broad.mit.edu	37	3	1262421	1262422	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr3:1262421_1262422insT	ENST00000446702.2	+	3	733_734	c.106_107insT	c.(106-108)attfs	p.I36fs	CNTN6_ENST00000539053.1_5'UTR|CNTN6_ENST00000350110.2_Frame_Shift_Ins_p.I36fs			Q9UQ52	CNTN6_HUMAN	contactin 6	36	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		ACATGATGTCATTTTTCCTTTG	0.401																																						ENST00000446702.2																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(106-108)attfs		contactin 6																																				SO:0001589	frameshift_variant	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1262421_1262422insT	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.111dupT	3.37:g.1262426_1262426dupT	ENSP00000407822:p.Ile36fs		Somatic				CNTN6_ENST00000539053.1_5'UTR|CNTN6_ENST00000350110.2_Frame_Shift_Ins_p.I36fs	p.I36fs			WXS	Illumina GAIIx	Phase_I	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	3	733_734	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	36			Ig-like C2-type 1.		Q2KHM2	Frame_Shift_Ins	INS	ENST00000446702.2	37	c.106_107insT	CCDS2557.1																																																																																				0.401	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		8	324	8	324	---	---	---	---
SLC22A4	6583	broad.mit.edu	37	5	131676278	131676278	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr5:131676278delC	ENST00000200652.3	+	9	1639	c.1465delC	c.(1465-1467)cccfs	p.P489fs	AC034220.3_ENST00000417795.1_RNA|AC034220.3_ENST00000437091.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	489					body fluid secretion (GO:0007589)|carnitine metabolic process (GO:0009437)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cation transmembrane transport (GO:0098655)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|cation:cation antiporter activity (GO:0015491)|nucleotide binding (GO:0000166)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)|symporter activity (GO:0015293)			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Amiloride(DB00594)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Desipramine(DB01151)|Guanidine(DB00536)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|L-Lysine(DB00123)|Levofloxacin(DB01137)|Mepyramine(DB06691)|Nicotine(DB00184)|Ofloxacin(DB01165)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Spermine(DB00127)|Testosterone(DB00624)|Tiotropium(DB01409)|Verapamil(DB00661)	CAGAATGCTGCCCTACATCGT	0.458																																						ENST00000200652.3																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(1465-1467)cccfs		solute carrier family 22 (organic cation/zwitterion transporter), member 4	L-Carnitine(DB00583)						263.0	248.0	253.0					5																	131676278		2203	4300	6503	SO:0001589	frameshift_variant	6583				body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity	g.chr5:131676278delC	AB007448	CCDS4153.1	5q23.3	2013-07-18	2013-07-18		ENSG00000197208	ENSG00000197208		"""Solute carriers"""	10968	protein-coding gene	gene with protein product		604190	"""solute carrier family 22 (organic cation/ergothioneine transporter), member 4"""			9426230, 15795384	Standard	NM_003059		Approved	OCTN1, MGC34546	uc003kwq.3	Q9H015	OTTHUMG00000059648	ENST00000200652.3:c.1465delC	5.37:g.131676278delC	ENSP00000200652:p.Pro489fs		Somatic				AC034220.3_ENST00000437091.1_RNA|AC034220.3_ENST00000417795.1_RNA	p.P489fs	NM_003059.2	NP_003050.2	WXS	Illumina GAIIx	Phase_I	Q9H015	S22A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		9	1639	+		all_cancers(142;0.0752)|Breast(839;0.198)	489					O14546	Frame_Shift_Del	DEL	ENST00000200652.3	37	c.1465delC	CCDS4153.1																																																																																				0.458	SLC22A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132661.1	NM_003059		15	665	15	665	---	---	---	---
