#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
TTLL10	254173	broad.mit.edu	37	1	1117795	1117795	+	Missense_Mutation	SNP	C	C	G	rs139967804	byFrequency	TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr1:1117795C>G	ENST00000379290.1	+	10	1058	c.885C>G	c.(883-885)caC>caG	p.H295Q	TTLL10-AS1_ENST00000379317.1_RNA|TTLL10_ENST00000379288.3_Missense_Mutation_p.H222Q|TTLL10_ENST00000379289.1_Missense_Mutation_p.H295Q			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	295	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)					haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ACCTCAAACACGAGAGAGAGG	0.622																																						ENST00000379290.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7						c.(883-885)caC>caG		tubulin tyrosine ligase-like family, member 10			GLN/HIS,GLN/HIS	0,4406		0,0,2203	120.0	117.0	118.0		885,666	-6.3	0.0	1	dbSNP_134	118	3,8597	3.0+/-9.4	0,3,4297	no	missense,missense	TTLL10	NM_001130045.1,NM_153254.2	24,24	0,3,6500	GG,GC,CC		0.0349,0.0,0.0231	benign,benign	295/674,222/405	1117795	3,13003	2203	4300	6503	SO:0001583	missense	254173				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr1:1117795C>G	AK093438	CCDS8.1, CCDS44036.1	1p36.33	2014-01-28	2005-07-29	2005-07-29	ENSG00000162571	ENSG00000162571		"""Tubulin tyrosine ligase-like family"""	26693	protein-coding gene	gene with protein product			"""tubulin tyrosine ligase-like family, member 5"""	TTLL5		15890843	Standard	NM_153254		Approved	FLJ36119	uc001acy.2	Q6ZVT0	OTTHUMG00000000851	ENST00000379290.1:c.885C>G	1.37:g.1117795C>G	ENSP00000368592:p.His295Gln		Somatic				TTLL10_ENST00000379288.3_Missense_Mutation_p.H222Q|TTLL10_ENST00000379289.1_Missense_Mutation_p.H295Q	p.H295Q			WXS	Illumina GAIIx	Phase_I	Q6ZVT0	TTL10_HUMAN		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	10	1058	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	295			TTL.		B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2	Missense_Mutation	SNP	ENST00000379290.1	37	c.885C>G	CCDS44036.1	.	.	.	.	.	.	.	.	.	.	C	0.124	-1.121815	0.01785	0.0	3.49E-4	ENSG00000162571	ENST00000379290;ENST00000379289;ENST00000379288	T;T;T	0.07567	3.18;3.18;3.18	3.28	-6.33	0.01988	.	2.595140	0.02357	N	0.076473	T	0.04272	0.0118	N	0.16656	0.425	0.09310	N	1	B;B	0.17268	0.017;0.021	B;B	0.10450	0.004;0.005	T	0.31998	-0.9923	10	0.40728	T	0.16	.	0.6593	0.00840	0.2862:0.3153:0.145:0.2535	.	222;295	Q6ZVT0-3;Q6ZVT0	.;TTL10_HUMAN	Q	295;295;222	ENSP00000368592:H295Q;ENSP00000368591:H295Q;ENSP00000368590:H222Q	ENSP00000368590:H222Q	H	+	3	2	TTLL10	1107658	0.000000	0.05858	0.033000	0.17914	0.002000	0.02628	-6.020000	0.00085	-1.352000	0.02194	-0.359000	0.07587	CAC		0.622	TTLL10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002421.3	NM_153254		15	106	15	106	---	---	---	---
TRIT1	54802	broad.mit.edu	37	1	40318533	40318533	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr1:40318533T>A	ENST00000316891.5	-	4	444	c.430A>T	c.(430-432)Act>Tct	p.T144S	TRIT1_ENST00000545233.1_Intron|TRIT1_ENST00000441669.2_Missense_Mutation_p.T64S|TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000372818.1_Missense_Mutation_p.T144S|TRIT1_ENST00000537440.1_Intron|TRIT1_ENST00000544981.1_Intron|TRIT1_ENST00000537223.1_Intron	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	144					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|tRNA dimethylallyltransferase activity (GO:0052381)			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			ACTTTCTCAGTGCCCATCTCC	0.453																																						ENST00000316891.5																			0				breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15						c.(430-432)Act>Tct		tRNA isopentenyltransferase 1							202.0	189.0	193.0					1																	40318533		2203	4300	6503	SO:0001583	missense	54802				tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity	g.chr1:40318533T>A	AF074918	CCDS30681.1	1p34.2	2012-10-05			ENSG00000043514	ENSG00000043514	2.5.1.8		20286	protein-coding gene	gene with protein product						11111046, 15870694	Standard	NM_017646		Approved	FLJ20061, IPT	uc021olz.1	Q9H3H1	OTTHUMG00000009245	ENST00000316891.5:c.430A>T	1.37:g.40318533T>A	ENSP00000321810:p.Thr144Ser		Somatic				TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000372818.1_Missense_Mutation_p.T144S|TRIT1_ENST00000537440.1_Intron|TRIT1_ENST00000537223.1_Intron|TRIT1_ENST00000544981.1_Intron|TRIT1_ENST00000441669.2_Missense_Mutation_p.T64S|TRIT1_ENST00000545233.1_Intron|TRIT1_ENST00000491865.1_Intron	p.T144S	NM_017646.4	NP_060116.2	WXS	Illumina GAIIx	Phase_I	Q9H3H1	MOD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		4	444	-	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	144					A1A4X7|Q3T7B5|Q5QPK5|Q5QPK6|Q6IAC9|Q96FJ3|Q96L45|Q9NXT7	Missense_Mutation	SNP	ENST00000316891.5	37	c.430A>T	CCDS30681.1	.	.	.	.	.	.	.	.	.	.	T	7.987	0.752492	0.15778	.	.	ENSG00000043514	ENST00000046894;ENST00000372825;ENST00000441669;ENST00000316891;ENST00000372818	T;T	0.43294	0.95;0.95	3.99	3.99	0.46301	.	0.433363	0.28510	N	0.015088	T	0.16811	0.0404	N	0.05012	-0.13	0.09310	N	0.999997	B;B;B	0.09022	0.0;0.0;0.002	B;B;B	0.12837	0.004;0.008;0.003	T	0.23583	-1.0184	10	0.08599	T	0.76	-11.4479	5.6679	0.17704	0.0:0.0932:0.1731:0.7338	.	144;144;64	Q9H3H1;Q9H3H1-4;Q9H3H1-5	MOD5_HUMAN;.;.	S	144;64;58;144;144	ENSP00000321810:T144S;ENSP00000361905:T144S	ENSP00000046894:T144S	T	-	1	0	TRIT1	40091120	0.007000	0.16637	0.829000	0.32907	0.699000	0.40488	0.341000	0.19909	2.025000	0.59659	0.383000	0.25322	ACT		0.453	TRIT1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025627.2	NM_017646		47	104	47	104	---	---	---	---
EPS8L3	79574	broad.mit.edu	37	1	110301232	110301232	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr1:110301232A>G	ENST00000361965.4	-	7	621	c.515T>C	c.(514-516)aTg>aCg	p.M172T	EPS8L3_ENST00000361852.4_Missense_Mutation_p.M172T|EPS8L3_ENST00000369805.3_Missense_Mutation_p.M173T|EPS8L3_ENST00000494151.1_5'UTR|RP4-735C1.4_ENST00000431955.1_RNA	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	172	Pro-rich.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CGGCCTTTCCATAGCAGGCCC	0.597																																						ENST00000369805.3																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32						c.(517-519)aTg>aCg		EPS8-like 3							60.0	57.0	58.0					1																	110301232		2203	4300	6503	SO:0001583	missense	79574					cytoplasm	protein binding	g.chr1:110301232A>G	AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.515T>C	1.37:g.110301232A>G	ENSP00000355255:p.Met172Thr		Somatic				EPS8L3_ENST00000361965.4_Missense_Mutation_p.M172T|EPS8L3_ENST00000494151.1_5'UTR|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Missense_Mutation_p.M172T	p.M173T	NM_139053.2	NP_620641.1	WXS	Illumina GAIIx	Phase_I	Q8TE67	ES8L3_HUMAN		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)	7	747	-		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)	172			Pro-rich.		A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Missense_Mutation	SNP	ENST00000361965.4	37	c.518T>C	CCDS814.1	.	.	.	.	.	.	.	.	.	.	A	5.062	0.197041	0.09599	.	.	ENSG00000198758	ENST00000361852;ENST00000369805;ENST00000361965	T;T;T	0.59224	2.64;0.28;0.28	5.35	-1.1	0.09872	.	0.965697	0.08555	N	0.928396	T	0.13756	0.0333	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.17268	0.005;0.021;0.001;0.009	B;B;B;B	0.15870	0.0;0.014;0.0;0.006	T	0.21075	-1.0256	10	0.23302	T	0.38	-1.0812	4.1323	0.10154	0.4766:0.0:0.3627:0.1607	.	172;172;172;173	A8K2J6;Q8TE67-2;Q8TE67;Q8TE67-3	.;.;ES8L3_HUMAN;.	T	172;173;172	ENSP00000354551:M172T;ENSP00000358820:M173T;ENSP00000355255:M172T	ENSP00000354551:M172T	M	-	2	0	EPS8L3	110102755	0.003000	0.15002	0.041000	0.18516	0.015000	0.08874	0.062000	0.14389	0.101000	0.17610	-0.274000	0.10170	ATG		0.597	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1	NM_024526		24	42	24	42	---	---	---	---
NOTCH2NL	388677	broad.mit.edu	37	1	145281379	145281379	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr1:145281379C>G	ENST00000369340.3	+	5	753	c.309C>G	c.(307-309)tgC>tgG	p.C103W	NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.C103W|RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.C103W|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.C103W			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	103	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						GTAAGGAGTGCCAATGGACCG	0.507																																						ENST00000369340.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(307-309)tgC>tgG		notch 2 N-terminal like							333.0	339.0	337.0					1																	145281379		2203	4298	6501	SO:0001583	missense	388677				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding	g.chr1:145281379C>G		CCDS72880.1	1q21.2	2010-06-24	2010-06-24		ENSG00000213240	ENSG00000213240			31862	protein-coding gene	gene with protein product			"""Notch homolog 2 (Drosophila) N-terminal like"""			14673143	Standard	NM_203458		Approved	N2N	uc001emn.4	Q7Z3S9	OTTHUMG00000013754	ENST00000369340.3:c.309C>G	1.37:g.145281379C>G	ENSP00000358346:p.Cys103Trp		Somatic				NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.C103W|RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.C103W|NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.C103W	p.C103W			WXS	Illumina GAIIx	Phase_I	Q7Z3S9	NT2NL_HUMAN			5	753	+			103			EGF-like 3.		Q5BKT8|Q5VTG9|Q5XG84|Q6P192|Q8NC23|Q8WUQ9|Q96FY1	Missense_Mutation	SNP	ENST00000369340.3	37	c.309C>G	CCDS909.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.961553	0.34659	.	.	ENSG00000213240	ENST00000362074;ENST00000344859;ENST00000369340	D;D;D	0.90133	-2.62;-2.62;-2.62	2.87	1.91	0.25777	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.95968	0.8687	H	0.99026	4.405	0.54753	D	0.999984	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.94040	0.7308	9	0.87932	D	0	.	6.9681	0.24635	0.0:0.8454:0.0:0.1546	.	103;103	Q7Z3S9-2;Q7Z3S9	.;NT2NL_HUMAN	W	103	ENSP00000354929:C103W;ENSP00000344557:C103W;ENSP00000358346:C103W	ENSP00000344557:C103W	C	+	3	2	NOTCH2NL	143992736	0.978000	0.34361	0.999000	0.59377	0.798000	0.45092	0.245000	0.18142	0.497000	0.27926	0.400000	0.26472	TGC		0.507	NOTCH2NL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038546.1	NM_203458		63	641	63	641	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158615323	158615323	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr1:158615323C>G	ENST00000368147.4	-	28	4138	c.3958G>C	c.(3958-3960)Gac>Cac	p.D1320H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1320					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCAGTTAAGTCTTCGGCCAGC	0.418																																						ENST00000368147.4																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(3958-3960)Gac>Cac		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							159.0	157.0	158.0					1																	158615323		2022	4164	6186	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158615323C>G	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3958G>C	1.37:g.158615323C>G	ENSP00000357129:p.Asp1320His		Somatic					p.D1320H	NM_003126.2	NP_003117.2	WXS	Illumina GAIIx	Phase_I	P02549	SPTA1_HUMAN			28	4138	-	all_hematologic(112;0.0378)							Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.3958G>C	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.639255	0.87760	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.49432	0.78;0.78	5.07	5.07	0.68467	.	.	.	.	.	T	0.69006	0.3063	M	0.87900	2.915	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.74532	-0.3634	9	0.72032	D	0.01	.	17.2029	0.86910	0.0:1.0:0.0:0.0	.	1320	P02549	SPTA1_HUMAN	H	1320	ENSP00000357130:D1320H;ENSP00000357129:D1320H	ENSP00000357129:D1320H	D	-	1	0	SPTA1	156881947	1.000000	0.71417	0.951000	0.38953	0.984000	0.73092	6.910000	0.75741	2.635000	0.89317	0.655000	0.94253	GAC		0.418	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		9	157	9	157	---	---	---	---
ARID4B	51742	broad.mit.edu	37	1	235338686	235338686	+	Silent	SNP	T	T	G	rs376544379		TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr1:235338686T>G	ENST00000264183.3	-	22	3974	c.3477A>C	c.(3475-3477)tcA>tcC	p.S1159S	ARID4B_ENST00000494543.1_5'Flank|ARID4B_ENST00000349213.3_Silent_p.S1073S|ARID4B_ENST00000366603.2_Silent_p.S1159S	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	1159					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TTTCACCAGCTGAAAGTTCTT	0.353																																						ENST00000264183.3																			0				NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8						c.(3475-3477)tcA>tcC		AT rich interactive domain 4B (RBP1-like)							97.0	99.0	99.0					1																	235338686		2203	4300	6503	SO:0001819	synonymous_variant	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235338686T>G	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.3477A>C	1.37:g.235338686T>G			Somatic				ARID4B_ENST00000349213.3_Silent_p.S1073S|ARID4B_ENST00000366603.2_Silent_p.S1159S	p.S1159S	NM_016374.5	NP_057458.4	WXS	Illumina GAIIx	Phase_I	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		22	3974	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	1159					A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Silent	SNP	ENST00000264183.3	37	c.3477A>C	CCDS31061.1																																																																																				0.353	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		4	103	4	103	---	---	---	---
GTDC1	79712	broad.mit.edu	37	2	144714783	144714783	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr2:144714783T>A	ENST00000392869.2	-	8	1261	c.1109A>T	c.(1108-1110)cAt>cTt	p.H370L	GTDC1_ENST00000463875.2_Missense_Mutation_p.H241L|GTDC1_ENST00000241391.5_Intron|GTDC1_ENST00000542155.1_Missense_Mutation_p.H370L|GTDC1_ENST00000409214.1_Missense_Mutation_p.H370L|AC016910.1_ENST00000422799.1_RNA|GTDC1_ENST00000344850.4_Missense_Mutation_p.H370L|GTDC1_ENST00000409298.1_Missense_Mutation_p.H252L|GTDC1_ENST00000392867.3_Intron	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	370					biosynthetic process (GO:0009058)		transferase activity, transferring glycosyl groups (GO:0016757)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		AAAGAATTCATGCTTAGCTGT	0.388																																						ENST00000392869.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25						c.(1108-1110)cAt>cTt		glycosyltransferase-like domain containing 1							124.0	113.0	117.0					2																	144714783		2203	4300	6503	SO:0001583	missense	79712				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr2:144714783T>A	AY281366	CCDS2185.1, CCDS33300.1, CCDS63029.1, CCDS74582.1, CCDS74583.1	2q22.3	2013-02-22			ENSG00000121964	ENSG00000121964		"""Glycosyltransferase group 1 domain containing"""	20887	protein-coding gene	gene with protein product	"""mannosyltransferase-like"""	610165				15068588, 21821951	Standard	NM_024659		Approved	FLJ11753, Hmat-Xa	uc010fnn.3	Q4AE62	OTTHUMG00000131835	ENST00000392869.2:c.1109A>T	2.37:g.144714783T>A	ENSP00000376608:p.His370Leu		Somatic				GTDC1_ENST00000542155.1_Missense_Mutation_p.H370L|GTDC1_ENST00000409214.1_Missense_Mutation_p.H370L|AC016910.1_ENST00000422799.1_RNA|GTDC1_ENST00000241391.5_Intron|GTDC1_ENST00000392867.3_Intron|GTDC1_ENST00000463875.2_Missense_Mutation_p.H241L|GTDC1_ENST00000409298.1_Missense_Mutation_p.H252L|GTDC1_ENST00000344850.4_Missense_Mutation_p.H370L	p.H370L	NM_001284234.1	NP_001271163.1	WXS	Illumina GAIIx	Phase_I	Q4AE62	GTDC1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0914)	8	1261	-								A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	Missense_Mutation	SNP	ENST00000392869.2	37	c.1109A>T	CCDS33300.1	.	.	.	.	.	.	.	.	.	.	T	19.62	3.860953	0.71949	.	.	ENSG00000121964	ENST00000392869;ENST00000409214;ENST00000409298;ENST00000542155;ENST00000344850;ENST00000463875	T;T;T;T;T;T	0.79033	-0.92;-0.92;-1.23;-0.92;-0.92;-0.92	5.93	5.93	0.95920	Glycosyl transferase, family 1 (1);	0.000000	0.85682	D	0.000000	D	0.90270	0.6957	M	0.90425	3.115	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.91635	0.998;0.995;0.999	D	0.91919	0.5546	10	0.66056	D	0.02	-3.5174	16.3943	0.83563	0.0:0.0:0.0:1.0	.	370;252;370	G1UFN1;B8ZZ45;Q4AE62	.;.;GTDC1_HUMAN	L	370;370;252;370;370;241	ENSP00000376608:H370L;ENSP00000386581:H370L;ENSP00000386691:H252L;ENSP00000438323:H370L;ENSP00000339750:H370L;ENSP00000437964:H241L	ENSP00000339750:H370L	H	-	2	0	GTDC1	144431253	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.545000	0.82128	2.281000	0.76405	0.533000	0.62120	CAT		0.388	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254779.2	NM_024659		21	40	21	40	---	---	---	---
PIKFYVE	200576	broad.mit.edu	37	2	209204774	209204774	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr2:209204774A>C	ENST00000264380.4	+	31	5008	c.4850A>C	c.(4849-4851)cAa>cCa	p.Q1617P		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1617					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						ACAGACAGCCAAGTGAAGGAA	0.328																																						ENST00000264380.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						c.(4849-4851)cAa>cCa		phosphoinositide kinase, FYVE finger containing							112.0	116.0	115.0					2																	209204774		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209204774A>C	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.4850A>C	2.37:g.209204774A>C	ENSP00000264380:p.Gln1617Pro		Somatic					p.Q1617P	NM_015040.3	NP_055855.2	WXS	Illumina GAIIx	Phase_I	Q9Y2I7	FYV1_HUMAN			31	5008	+			1617					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.4850A>C	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	A	18.23	3.578675	0.65878	.	.	ENSG00000115020	ENST00000264380	T	0.32272	1.46	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.41627	0.1167	L	0.27053	0.805	0.80722	D	1	D	0.67145	0.996	D	0.72982	0.979	T	0.17561	-1.0365	10	0.28530	T	0.3	-13.3148	15.6556	0.77133	1.0:0.0:0.0:0.0	.	1617	Q9Y2I7	FYV1_HUMAN	P	1617	ENSP00000264380:Q1617P	ENSP00000264380:Q1617P	Q	+	2	0	PIKFYVE	208913019	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.962000	0.93254	2.099000	0.63709	0.455000	0.32223	CAA		0.328	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		59	59	59	59	---	---	---	---
XPC	7508	broad.mit.edu	37	3	14212034	14212034	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr3:14212034G>T	ENST00000285021.7	-	3	530	c.316C>A	c.(316-318)Ctc>Atc	p.L106I	XPC_ENST00000449060.2_Missense_Mutation_p.L106I	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	106	Glu-rich (acidic).				DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCCTTCTTGAGGTCACTTGGA	0.428			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000285021.7			yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"""Mis, N, F, S"""	"""xeroderma pigmentosum, complementation group C"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(316-318)Ctc>Atc	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group C							254.0	236.0	241.0					3																	14212034		1894	4124	6018	SO:0001583	missense	7508	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	g.chr3:14212034G>T		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group C protein"""	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.316C>A	3.37:g.14212034G>T	ENSP00000285021:p.Leu106Ile		Somatic				XPC_ENST00000449060.2_Missense_Mutation_p.L106I	p.L106I	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	WXS	Illumina GAIIx	Phase_I	Q01831	XPC_HUMAN			3	530	-			106			Glu-rich (acidic).		B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Missense_Mutation	SNP	ENST00000285021.7	37	c.316C>A	CCDS46763.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.196055	0.38806	.	.	ENSG00000154767	ENST00000285021;ENST00000449060;ENST00000511155	T;T;T	0.63096	-0.02;-0.02;-0.02	5.65	0.186	0.15105	.	2.004470	0.02006	N	0.046631	T	0.35740	0.0942	N	0.08118	0	0.09310	N	1	B;P	0.34462	0.148;0.454	B;B	0.22152	0.038;0.037	T	0.24297	-1.0164	10	0.20519	T	0.43	0.4934	5.1062	0.14785	0.36:0.1417:0.4983:0.0	.	106;106	E9PH69;Q01831	.;XPC_HUMAN	I	106;106;100	ENSP00000285021:L106I;ENSP00000404002:L106I;ENSP00000423867:L100I	ENSP00000285021:L106I	L	-	1	0	XPC	14187038	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.080000	0.11339	0.241000	0.21283	0.650000	0.86243	CTC		0.428	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	NM_004628		6	130	6	130	---	---	---	---
SEL1L3	23231	broad.mit.edu	37	4	25785893	25785893	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr4:25785893T>C	ENST00000399878.3	-	14	2359	c.2237A>G	c.(2236-2238)aAc>aGc	p.N746S	SEL1L3_ENST00000502949.1_Missense_Mutation_p.N593S|SEL1L3_ENST00000264868.5_Missense_Mutation_p.N711S	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	746						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						AAGCCGTCTGTTCTTTTTTAC	0.418																																						ENST00000399878.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						c.(2236-2238)aAc>aGc		sel-1 suppressor of lin-12-like 3 (C. elegans)							235.0	229.0	231.0					4																	25785893		1972	4148	6120	SO:0001583	missense	23231					integral to membrane	binding	g.chr4:25785893T>C	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.2237A>G	4.37:g.25785893T>C	ENSP00000382767:p.Asn746Ser		Somatic				SEL1L3_ENST00000264868.5_Missense_Mutation_p.N711S|SEL1L3_ENST00000502949.1_Missense_Mutation_p.N593S	p.N746S	NM_015187.3	NP_056002.2	WXS	Illumina GAIIx	Phase_I	Q68CR1	SE1L3_HUMAN			14	2359	-			746					A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	ENST00000399878.3	37	c.2237A>G	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.941972	0.73557	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.54675	0.56;0.56;0.56	5.58	5.58	0.84498	Tetratricopeptide-like helical (1);	0.048441	0.85682	D	0.000000	T	0.58779	0.2146	N	0.19112	0.55	0.43073	D	0.994718	D;D	0.76494	0.995;0.999	P;D	0.72625	0.86;0.978	T	0.63945	-0.6522	10	0.56958	D	0.05	-27.3311	15.4199	0.75003	0.0:0.0:0.0:1.0	.	153;746	B4DTH5;Q68CR1	.;SE1L3_HUMAN	S	746;711;593	ENSP00000382767:N746S;ENSP00000264868:N711S;ENSP00000425438:N593S	ENSP00000264868:N711S	N	-	2	0	SEL1L3	25394991	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.552000	0.67281	2.136000	0.66102	0.454000	0.30748	AAC		0.418	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		8	156	8	156	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127800512	127800512	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr5:127800512C>A	ENST00000508053.1	-	12	1705	c.731G>T	c.(730-732)gGa>gTa	p.G244V	FBN2_ENST00000262464.4_Missense_Mutation_p.G244V|FBN2_ENST00000508989.1_Missense_Mutation_p.G211V			P35556	FBN2_HUMAN	fibrillin 2	244	TB 1.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CCACGCCCGTCCAATGGTGGC	0.602																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(730-732)gGa>gTa		fibrillin 2							89.0	83.0	85.0					5																	127800512		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127800512C>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.731G>T	5.37:g.127800512C>A	ENSP00000424571:p.Gly244Val		Somatic				FBN2_ENST00000262464.4_Missense_Mutation_p.G244V|FBN2_ENST00000508989.1_Missense_Mutation_p.G211V	p.G244V			WXS	Illumina GAIIx	Phase_I	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	12	1705	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	244			TB 1.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.731G>T	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.416887	0.83449	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989;ENST00000502468	D;D;D;D	0.96104	-3.91;-3.91;-3.91;-3.91	4.82	4.82	0.62117	Matrix fibril-associated (3);TGF-beta binding (1);	0.000000	0.64402	D	0.000003	D	0.97451	0.9166	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;1.0;1.0	D	0.98068	1.0397	10	0.87932	D	0	.	18.7725	0.91898	0.0:1.0:0.0:0.0	.	211;244;211;244	P35556-2;E9PHW4;D6RJI3;P35556	.;.;.;FBN2_HUMAN	V	244;244;211;244	ENSP00000262464:G244V;ENSP00000424571:G244V;ENSP00000425596:G211V;ENSP00000424753:G244V	ENSP00000262464:G244V	G	-	2	0	FBN2	127828411	1.000000	0.71417	0.950000	0.38849	0.725000	0.41563	7.729000	0.84864	2.608000	0.88229	0.484000	0.47621	GGA		0.602	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		46	56	46	56	---	---	---	---
PSD2	84249	broad.mit.edu	37	5	139193322	139193322	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr5:139193322A>C	ENST00000274710.3	+	3	1005	c.800A>C	c.(799-801)gAc>gCc	p.D267A		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	267	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGACACGGACAAGTTGCTG	0.607																																						ENST00000274710.3																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38						c.(799-801)gAc>gCc		pleckstrin and Sec7 domain containing 2							22.0	19.0	20.0					5																	139193322		2151	4224	6375	SO:0001583	missense	84249				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr5:139193322A>C	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.800A>C	5.37:g.139193322A>C	ENSP00000274710:p.Asp267Ala		Somatic					p.D267A	NM_032289.2	NP_115665.1	WXS	Illumina GAIIx	Phase_I	Q9BQI7	PSD2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	1005	+			267			SEC7.		D3DQD3|Q8N3J8	Missense_Mutation	SNP	ENST00000274710.3	37	c.800A>C	CCDS4216.1	.	.	.	.	.	.	.	.	.	.	A	10.17	1.277738	0.23307	.	.	ENSG00000146005	ENST00000274710	T	0.11604	2.76	4.61	3.4	0.38934	.	0.627974	0.16060	N	0.231511	T	0.07458	0.0188	L	0.36672	1.1	0.26997	N	0.964996	B	0.20368	0.044	B	0.21708	0.036	T	0.37641	-0.9697	10	0.05351	T	0.99	.	8.9106	0.35550	0.6303:0.3697:0.0:0.0	.	267	Q9BQI7	PSD2_HUMAN	A	267	ENSP00000274710:D267A	ENSP00000274710:D267A	D	+	2	0	PSD2	139173506	0.942000	0.31987	0.993000	0.49108	0.917000	0.54804	2.156000	0.42310	1.832000	0.53329	0.460000	0.39030	GAC		0.607	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		7	14	7	14	---	---	---	---
CDHR2	54825	broad.mit.edu	37	5	176011821	176011821	+	Missense_Mutation	SNP	G	G	T	rs554321529		TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr5:176011821G>T	ENST00000510636.1	+	19	2813	c.2539G>T	c.(2539-2541)Gtg>Ttg	p.V847L	CDHR2_ENST00000261944.5_Missense_Mutation_p.V847L|CDHR2_ENST00000506348.1_Missense_Mutation_p.V847L	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	847	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GATACAGCTTGTGAACATTCT	0.612																																						ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(2539-2541)Gtg>Ttg		cadherin-related family member 2							108.0	92.0	97.0					5																	176011821		2203	4300	6503	SO:0001583	missense	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176011821G>T	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.2539G>T	5.37:g.176011821G>T	ENSP00000424565:p.Val847Leu		Somatic				CDHR2_ENST00000261944.5_Missense_Mutation_p.V847L|CDHR2_ENST00000506348.1_Missense_Mutation_p.V847L	p.V847L	NM_001171976.1	NP_001165447.1	WXS	Illumina GAIIx	Phase_I	Q9BYE9	CDHR2_HUMAN			19	2813	+			847			Cadherin 8.		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	c.2539G>T	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	G	0.168	-1.074624	0.01903	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.55930	0.49;0.49;0.49	5.28	-0.828	0.10799	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.24736	0.0600	N	0.11845	0.185	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.20739	-1.0266	9	0.09843	T	0.71	-10.2882	3.1945	0.06629	0.3138:0.421:0.1716:0.0937	.	847	Q9BYE9	CDHR2_HUMAN	L	847	ENSP00000424565:V847L;ENSP00000261944:V847L;ENSP00000421078:V847L	ENSP00000261944:V847L	V	+	1	0	CDHR2	175944427	0.023000	0.18921	0.000000	0.03702	0.006000	0.05464	0.244000	0.18124	-0.130000	0.11599	-0.390000	0.06520	GTG		0.612	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		4	112	4	112	---	---	---	---
BAI3	577	broad.mit.edu	37	6	69349086	69349086	+	Silent	SNP	T	T	G			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr6:69349086T>G	ENST00000370598.1	+	3	1340	c.519T>G	c.(517-519)acT>acG	p.T173T		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	173					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TATTATGTACTTGGTTGGAGA	0.413																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(517-519)acT>acG		brain-specific angiogenesis inhibitor 3							76.0	77.0	77.0					6																	69349086		2203	4300	6503	SO:0001819	synonymous_variant	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69349086T>G	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.519T>G	6.37:g.69349086T>G			Somatic					p.T173T	NM_001704.2	NP_001695	WXS	Illumina GAIIx	Phase_I	O60242	BAI3_HUMAN			3	1340	+		all_lung(197;0.212)	173					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	ENST00000370598.1	37	c.519T>G	CCDS4968.1																																																																																				0.413	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			3	86	3	86	---	---	---	---
DPY19L2P2	349152	broad.mit.edu	37	7	102895274	102895274	+	RNA	SNP	T	T	C			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr7:102895274T>C	ENST00000312132.4	-	0	2570							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										CATTAGTCCATTTAAAATAAA	0.338																																						ENST00000312132.4																			0																																																			349152							g.chr7:102895274T>C	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102895274T>C			Somatic								WXS	Illumina GAIIx	Phase_I					0	2570	-								Q8N9V4|Q8ND62	RNA	SNP	ENST00000312132.4	37																																																																																						0.338	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		9	55	9	55	---	---	---	---
TSTD2	158427	broad.mit.edu	37	9	100388075	100388075	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr9:100388075T>C	ENST00000341170.4	-	3	752	c.370A>G	c.(370-372)Agt>Ggt	p.S124G	TSTD2_ENST00000354801.2_5'UTR	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	124										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						GACGAAAGACTCTTTGAGGTG	0.438																																						ENST00000341170.4																			0				large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						c.(370-372)Agt>Ggt		thiosulfate sulfurtransferase (rhodanese)-like domain containing 2							164.0	161.0	162.0					9																	100388075		2203	4300	6503	SO:0001583	missense	158427							g.chr9:100388075T>C	AF258575	CCDS6727.2	9q22.33	2013-09-20	2009-08-12	2009-08-12	ENSG00000136925	ENSG00000136925			30087	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 97"""	C9orf97		12477932	Standard	NM_139246		Approved	PP4189	uc004axn.3	Q5T7W7	OTTHUMG00000020328	ENST00000341170.4:c.370A>G	9.37:g.100388075T>C	ENSP00000342499:p.Ser124Gly		Somatic				TSTD2_ENST00000354801.2_5'UTR	p.S124G	NM_139246.4	NP_640339.4	WXS	Illumina GAIIx	Phase_I	Q5T7W7	TSTD2_HUMAN			3	752	-			124					A6NMJ4|A8K584|Q6ZQZ6|Q8IYM3|Q8WY73|Q96ML6|Q96MU1	Missense_Mutation	SNP	ENST00000341170.4	37	c.370A>G	CCDS6727.2	.	.	.	.	.	.	.	.	.	.	T	14.79	2.639869	0.47153	.	.	ENSG00000136925	ENST00000341170	T	0.32753	1.44	4.82	2.34	0.29019	.	0.636171	0.16823	N	0.198078	T	0.27798	0.0684	L	0.57536	1.79	0.24756	N	0.992957	B	0.06786	0.001	B	0.04013	0.001	T	0.19386	-1.0307	10	0.28530	T	0.3	-1.0552	9.8635	0.41129	0.0:0.1205:0.0:0.8795	.	124	Q5T7W7	TSTD2_HUMAN	G	124	ENSP00000342499:S124G	ENSP00000342499:S124G	S	-	1	0	TSTD2	99427896	0.000000	0.05858	0.044000	0.18714	0.529000	0.34654	0.096000	0.15147	0.398000	0.25338	0.533000	0.62120	AGT		0.438	TSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053325.4	NM_139246		53	69	53	69	---	---	---	---
EHBP1L1	254102	broad.mit.edu	37	11	65349635	65349635	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr11:65349635G>T	ENST00000309295.4	+	9	1757	c.1492G>T	c.(1492-1494)Gcc>Tcc	p.A498S		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	498						membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CCTCGAGGGGGCCAGGGCTGC	0.672																																						ENST00000309295.4																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(1492-1494)Gcc>Tcc		EH domain binding protein 1-like 1							17.0	19.0	18.0					11																	65349635		1955	4129	6084	SO:0001583	missense	254102							g.chr11:65349635G>T	AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.1492G>T	11.37:g.65349635G>T	ENSP00000312671:p.Ala498Ser		Somatic					p.A498S	NM_001099409.1	NP_001092879.1	WXS	Illumina GAIIx	Phase_I	Q8N3D4	EH1L1_HUMAN			9	1757	+			498					Q8TB89|Q9H7M7	Missense_Mutation	SNP	ENST00000309295.4	37	c.1492G>T	CCDS44649.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.893636	0.72639	.	.	ENSG00000173442	ENST00000309295	T	0.66460	-0.21	4.95	-0.69	0.11309	.	0.559584	0.15030	N	0.284539	T	0.46386	0.1390	L	0.32530	0.975	0.09310	N	1	B	0.14805	0.011	B	0.13407	0.009	T	0.26430	-1.0103	10	0.40728	T	0.16	.	2.3476	0.04275	0.1366:0.1352:0.4531:0.2751	.	498	Q8N3D4	EH1L1_HUMAN	S	498	ENSP00000312671:A498S	ENSP00000312671:A498S	A	+	1	0	EHBP1L1	65106211	0.000000	0.05858	0.000000	0.03702	0.465000	0.32709	0.013000	0.13310	0.074000	0.16767	0.561000	0.74099	GCC		0.672	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	XM_170658		5	17	5	17	---	---	---	---
ACVR1B	91	broad.mit.edu	37	12	52379005	52379005	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr12:52379005A>G	ENST00000257963.4	+	6	1086	c.1009A>G	c.(1009-1011)Aag>Gag	p.K337E	ACVR1B_ENST00000542485.1_Missense_Mutation_p.K285E|RNU6-574P_ENST00000384265.1_RNA|ACVR1B_ENST00000415850.2_Missense_Mutation_p.K337E|ACVR1B_ENST00000563121.1_3'UTR|ACVR1B_ENST00000541224.1_Missense_Mutation_p.K378E|ACVR1B_ENST00000426655.2_Missense_Mutation_p.K337E	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	337	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	TCGAGACTTAAAGTCAAAGAA	0.438																																						ENST00000257963.4																			0				breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44						c.(1009-1011)Aag>Gag		activin A receptor, type IB	Adenosine triphosphate(DB00171)						87.0	83.0	84.0					12																	52379005		2203	4300	6503	SO:0001583	missense	91				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding	g.chr12:52379005A>G		CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.1009A>G	12.37:g.52379005A>G	ENSP00000257963:p.Lys337Glu		Somatic				ACVR1B_ENST00000563121.1_3'UTR|ACVR1B_ENST00000541224.1_Missense_Mutation_p.K378E|ACVR1B_ENST00000426655.2_Missense_Mutation_p.K337E|ACVR1B_ENST00000542485.1_Missense_Mutation_p.K285E|ACVR1B_ENST00000415850.2_Missense_Mutation_p.K337E	p.K337E	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	WXS	Illumina GAIIx	Phase_I	P36896	ACV1B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.104)	6	1086	+			337			Protein kinase.		B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Missense_Mutation	SNP	ENST00000257963.4	37	c.1009A>G	CCDS8816.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.419235	0.83559	.	.	ENSG00000135503	ENST00000257963;ENST00000541224;ENST00000426655;ENST00000415850;ENST00000542485	D;D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.78;-2.78	4.76	3.6	0.41247	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97034	0.9031	H	0.98883	4.36	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.997;0.999;1.0	D	0.96823	0.9605	10	0.87932	D	0	.	11.1309	0.48347	0.8617:0.0:0.0:0.1383	.	378;337;337;337	P36896-4;P36896;P36896-2;P36896-3	.;ACV1B_HUMAN;.;.	E	337;378;337;337;285	ENSP00000257963:K337E;ENSP00000442656:K378E;ENSP00000390477:K337E;ENSP00000397550:K337E;ENSP00000442885:K285E	ENSP00000257963:K337E	K	+	1	0	ACVR1B	50665272	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	9.139000	0.94554	0.939000	0.37446	0.460000	0.39030	AAG		0.438	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397000.1	NM_020328		18	29	18	29	---	---	---	---
CCT2	10576	broad.mit.edu	37	12	69986785	69986785	+	Silent	SNP	T	T	C	rs201962311	byFrequency	TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr12:69986785T>C	ENST00000299300.6	+	9	968	c.780T>C	c.(778-780)tcT>tcC	p.S260S	CCT2_ENST00000543146.2_Silent_p.S213S|CCT2_ENST00000544368.2_Silent_p.S260S	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	260					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GAGTTGACTCTACAGCAAAGG	0.363													T|||	5	0.000998403	0.0038	0.0	5008	,	,		19993	0.0		0.0	False		,,,				2504	0.0					ENST00000543146.2																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24						c.(637-639)tcT>tcC		chaperonin containing TCP1, subunit 2 (beta)							81.0	81.0	81.0					12																	69986785		2203	4300	6503	SO:0001819	synonymous_variant	10576				'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding	g.chr12:69986785T>C	AF026293	CCDS8991.1, CCDS55843.1	12q14	2011-09-02						"""Heat Shock Proteins / Chaperonins"""	1615	protein-coding gene	gene with protein product		605139				9819444	Standard	NM_001198842		Approved	Cctb	uc001svb.1	P78371	OTTHUMG00000169383	ENST00000299300.6:c.780T>C	12.37:g.69986785T>C			Somatic				CCT2_ENST00000544368.2_Silent_p.S260S|CCT2_ENST00000299300.6_Silent_p.S260S	p.S213S	NM_001198842.1	NP_001185771.1	WXS	Illumina GAIIx	Phase_I	P78371	TCPB_HUMAN	Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		9	1121	+	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		260					A8K402|B5BTY7|B7Z243|B7Z7K4|B7ZAT2|Q14D36|Q6IAT3	Silent	SNP	ENST00000299300.6	37	c.639T>C	CCDS8991.1																																																																																				0.363	CCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403818.1	NM_006431		19	31	19	31	---	---	---	---
MAPKAPK5	8550	broad.mit.edu	37	12	112326400	112326400	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr12:112326400C>G	ENST00000551404.2	+	11	1186	c.1078C>G	c.(1078-1080)Ctg>Gtg	p.L360V	MAPKAPK5_ENST00000550735.2_Missense_Mutation_p.L360V			Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5	360					activation of MAPK activity (GO:0000187)|MAPK cascade (GO:0000165)|negative regulation of TOR signaling (GO:0032007)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)|stress-induced premature senescence (GO:0090400)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(11)|ovary(1)	13						CAACCCCATTCTGCGGAAGAG	0.463																																						ENST00000550735.2																			0				endometrium(1)|lung(11)|ovary(1)	13						c.(1078-1080)Ctg>Gtg		mitogen-activated protein kinase-activated protein kinase 5							126.0	127.0	126.0					12																	112326400		1934	4142	6076	SO:0001583	missense	8550				signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity	g.chr12:112326400C>G	AF032437	CCDS44975.1, CCDS44976.1	12q24.13	2012-05-30			ENSG00000089022	ENSG00000089022			6889	protein-coding gene	gene with protein product		606723				9628874	Standard	NM_003668		Approved	PRAK	uc001tta.4	Q8IW41	OTTHUMG00000169605	ENST00000551404.2:c.1078C>G	12.37:g.112326400C>G	ENSP00000449381:p.Leu360Val		Somatic				MAPKAPK5_ENST00000551404.2_Missense_Mutation_p.L360V	p.L360V	NM_003668.2|NM_139078.1	NP_003659.2|NP_620777.1	WXS	Illumina GAIIx	Phase_I	Q8IW41	MAPK5_HUMAN			11	1834	+			360					B3KVA5|O60491|Q86X46|Q9BVX9|Q9UG86	Missense_Mutation	SNP	ENST00000551404.2	37	c.1078C>G	CCDS44975.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.888774	0.72524	.	.	ENSG00000089022	ENST00000550735;ENST00000202788;ENST00000428907;ENST00000551404;ENST00000552111;ENST00000547067	T;T	0.56103	0.48;0.49	6.08	6.08	0.98989	Protein kinase-like domain (1);	0.122287	0.56097	D	0.000023	T	0.62429	0.2427	N	0.24115	0.695	0.80722	D	1	P;P;D	0.56035	0.546;0.956;0.974	B;P;D	0.67725	0.373;0.899;0.953	T	0.62751	-0.6788	10	0.56958	D	0.05	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	354;360;360	C9J458;Q8IW41;Q8IW41-2	.;MAPK5_HUMAN;.	V	360;360;360;360;41;21	ENSP00000449667:L360V;ENSP00000449381:L360V	ENSP00000202788:L360V	L	+	1	2	MAPKAPK5	110810783	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.656000	0.67988	2.894000	0.99253	0.655000	0.94253	CTG		0.463	MAPKAPK5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405019.2	NM_139078		45	64	45	64	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105419663	105419663	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr14:105419663C>T	ENST00000333244.5	-	7	2244	c.2125G>A	c.(2125-2127)Gtg>Atg	p.V709M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	709						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AGGAGGCTCACGTCGGCCTCC	0.612																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(2125-2127)Gtg>Atg		AHNAK nucleoprotein 2							129.0	140.0	136.0					14																	105419663		1986	4161	6147	SO:0001583	missense	113146					nucleus		g.chr14:105419663C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.2125G>A	14.37:g.105419663C>T	ENSP00000353114:p.Val709Met		Somatic				AHNAK2_ENST00000557457.1_Intron	p.V709M	NM_138420.2	NP_612429.2	WXS	Illumina GAIIx	Phase_I	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	2244	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	709					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.2125G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	9.253	1.041148	0.19669	.	.	ENSG00000185567	ENST00000333244	T	0.01145	5.27	2.77	0.58	0.17402	.	.	.	.	.	T	0.01353	0.0044	M	0.79926	2.475	0.09310	N	1	P	0.48016	0.904	B	0.33454	0.164	T	0.46205	-0.9208	9	0.40728	T	0.16	-2.0318	0.9845	0.01443	0.1792:0.4124:0.1762:0.2323	.	709	Q8IVF2	AHNK2_HUMAN	M	709	ENSP00000353114:V709M	ENSP00000353114:V709M	V	-	1	0	AHNAK2	104490708	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.486000	0.06513	0.158000	0.19367	-0.264000	0.10439	GTG		0.612	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		5	182	5	182	---	---	---	---
ALOX15	246	broad.mit.edu	37	17	4541945	4541945	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr17:4541945C>A	ENST00000570836.1	-	6	673	c.577G>T	c.(577-579)Gtt>Ttt	p.V193F	ALOX15_ENST00000574640.1_Missense_Mutation_p.V154F|ALOX15_ENST00000545513.1_Missense_Mutation_p.V215F|ALOX15_ENST00000293761.3_Missense_Mutation_p.V193F			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	193	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic cell clearance (GO:0043277)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|cellular response to calcium ion (GO:0071277)|cellular response to interleukin-13 (GO:0035963)|hepoxilin biosynthetic process (GO:0051122)|inflammatory response (GO:0006954)|leukotriene metabolic process (GO:0006691)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxygenase pathway (GO:0019372)|negative regulation of adaptive immune response (GO:0002820)|ossification (GO:0001503)|phosphatidylethanolamine biosynthetic process (GO:0006646)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of engulfment of apoptotic cell (GO:1901074)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arachidonate 12-lipoxygenase activity (GO:0004052)|arachidonate 15-lipoxygenase activity (GO:0050473)|eoxin A4 synthase activity (GO:0097260)|iron ion binding (GO:0005506)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)		CAAGTCAGAACATTTAGAGAG	0.532																																						ENST00000570836.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20						c.(577-579)Gtt>Ttt		arachidonate 15-lipoxygenase	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)						69.0	69.0	69.0					17																	4541945		2203	4300	6503	SO:0001583	missense	246				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:4541945C>A	M23892	CCDS11049.1	17p13.3	2010-09-24			ENSG00000161905	ENSG00000161905	1.13.11.33	"""Arachidonate lipoxygenases"""	433	protein-coding gene	gene with protein product		152392				1570320	Standard	NM_001140		Approved	15-LOX-1	uc002fyh.3	P16050	OTTHUMG00000090746	ENST00000570836.1:c.577G>T	17.37:g.4541945C>A	ENSP00000458832:p.Val193Phe		Somatic				ALOX15_ENST00000574640.1_Missense_Mutation_p.V154F|ALOX15_ENST00000293761.3_Missense_Mutation_p.V193F|ALOX15_ENST00000545513.1_Missense_Mutation_p.V215F	p.V193F			WXS	Illumina GAIIx	Phase_I	P16050	LOX15_HUMAN		READ - Rectum adenocarcinoma(115;0.0327)	6	673	-			193			Lipoxygenase.		A8K2P4|B7ZA11|Q8N6R7|Q99657	Missense_Mutation	SNP	ENST00000570836.1	37	c.577G>T	CCDS11049.1	.	.	.	.	.	.	.	.	.	.	C	1.391	-0.580680	0.03854	.	.	ENSG00000161905	ENST00000293761;ENST00000545513	T;T	0.79141	-1.24;-1.24	4.55	-4.92	0.03075	Lipoxygenase, C-terminal (3);	2.461850	0.01412	N	0.014054	T	0.51719	0.1691	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.002	T	0.53662	-0.8407	10	0.09084	T	0.74	-16.4216	8.5987	0.33732	0.0:0.5678:0.1484:0.2838	.	215;154;193	F5H0G8;B7ZA11;P16050	.;.;LOX15_HUMAN	F	193;215	ENSP00000293761:V193F;ENSP00000439855:V215F	ENSP00000293761:V193F	V	-	1	0	ALOX15	4488694	0.000000	0.05858	0.000000	0.03702	0.318000	0.28184	-4.274000	0.00262	-1.425000	0.01997	-0.291000	0.09656	GTT		0.532	ALOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207487.2			3	65	3	65	---	---	---	---
KRTAP4-1	85285	broad.mit.edu	37	17	39340671	39340671	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr17:39340671A>G	ENST00000398472.1	-	1	923	c.436T>C	c.(436-438)Tgt>Cgt	p.C146R				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	146						keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GAGGTTCAACAAGAGGATCCA	0.527																																						ENST00000398472.1																			0				kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						c.(436-438)Tgt>Cgt		keratin associated protein 4-1							110.0	116.0	114.0					17																	39340671		2138	4272	6410	SO:0001583	missense	85285					keratin filament		g.chr17:39340671A>G	AC006070		17q21.2	2013-06-25			ENSG00000198443	ENSG00000198443		"""Keratin associated proteins"""	18907	protein-coding gene	gene with protein product			"""keratin associated protein 4-10"""	KRTAP4-10		11279113	Standard	NM_033060		Approved	KAP4.1, KAP4.10	uc002hwe.4	Q9BYQ7	OTTHUMG00000132081	ENST00000398472.1:c.436T>C	17.37:g.39340671A>G	ENSP00000381489:p.Cys146Arg		Somatic					p.C146R			WXS	Illumina GAIIx	Phase_I	Q9BYQ7	KRA41_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	923	-		Breast(137;0.000496)	146					A8MWS7|Q3SYF2	Missense_Mutation	SNP	ENST00000398472.1	37	c.436T>C		.	.	.	.	.	.	.	.	.	.	.	12.70	2.015426	0.35511	.	.	ENSG00000198443	ENST00000398472;ENST00000334190	T	0.02236	4.38	4.76	4.76	0.60689	.	.	.	.	.	T	0.03871	0.0109	.	.	.	0.20764	N	0.99985	P	0.41131	0.739	B	0.43274	0.414	T	0.37267	-0.9713	8	0.87932	D	0	.	10.6524	0.45655	1.0:0.0:0.0:0.0	.	146	Q9BYQ7	KRA41_HUMAN	R	146;127	ENSP00000381489:C146R	ENSP00000335483:C127R	C	-	1	0	KRTAP4-1	36594197	0.207000	0.23482	0.006000	0.13384	0.008000	0.06430	3.878000	0.56130	1.744000	0.51775	0.533000	0.62120	TGT		0.527	KRTAP4-1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255108.1	NM_033060		5	226	5	226	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9090433	9090433	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr19:9090433A>T	ENST00000397910.4	-	1	1585	c.1382T>A	c.(1381-1383)tTt>tAt	p.F461Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	461	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAGAGTTGTAAAACCTAGAGT	0.498																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(1381-1383)tTt>tAt		mucin 16, cell surface associated							178.0	167.0	171.0					19																	9090433		1974	4153	6127	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090433A>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.1382T>A	19.37:g.9090433A>T	ENSP00000381008:p.Phe461Tyr		Somatic					p.F461Y	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			1	1585	-			461			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.1382T>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	5.025	0.190232	0.09547	.	.	ENSG00000181143	ENST00000397910	T	0.02606	4.23	1.54	1.54	0.23209	.	.	.	.	.	T	0.01523	0.0049	N	0.08118	0	.	.	.	P	0.50710	0.938	B	0.38156	0.266	T	0.45760	-0.9239	8	0.87932	D	0	.	5.1773	0.15141	1.0:0.0:0.0:0.0	.	461	B5ME49	.	Y	461	ENSP00000381008:F461Y	ENSP00000381008:F461Y	F	-	2	0	MUC16	8951433	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.842000	0.04354	0.963000	0.38082	0.260000	0.18958	TTT		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		6	181	6	181	---	---	---	---
KRTAP13-4	284827	broad.mit.edu	37	21	31802730	31802730	+	Missense_Mutation	SNP	C	C	T	rs558455896		TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr21:31802730C>T	ENST00000334068.2	+	1	159	c.137C>T	c.(136-138)tCt>tTt	p.S46F		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	46	4 X 10 AA approximate repeats.					intermediate filament (GO:0005882)				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						CTGCGTTCCTCTCTCTACAGG	0.632													-|||	1	0.000199681	0.0	0.0	5008	,	,		17795	0.001		0.0	False		,,,				2504	0.0				NSCLC(196;2401 3038 18004 35753)	ENST00000334068.2																			0				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						c.(136-138)tCt>tTt		keratin associated protein 13-4							68.0	70.0	69.0					21																	31802730		2203	4300	6503	SO:0001583	missense	284827					intermediate filament		g.chr21:31802730C>T	AP001708	CCDS13592.1	21q22.1	2006-03-13			ENSG00000186971	ENSG00000186971		"""Keratin associated proteins"""	18926	protein-coding gene	gene with protein product						12359730	Standard	NM_181600		Approved	KAP13.4	uc011acw.2	Q3LI77	OTTHUMG00000057770	ENST00000334068.2:c.137C>T	21.37:g.31802730C>T	ENSP00000334834:p.Ser46Phe		Somatic					p.S46F	NM_181600.1	NP_853631.1	WXS	Illumina GAIIx	Phase_I	Q3LI77	KR134_HUMAN			1	159	+			46			4 X 10 AA approximate repeats.		A2RRL3	Missense_Mutation	SNP	ENST00000334068.2	37	c.137C>T	CCDS13592.1	.	.	.	.	.	.	.	.	.	.	-	13.33	2.204746	0.38905	.	.	ENSG00000186971	ENST00000334068	T	0.03801	3.8	4.95	2.92	0.33932	.	0.331041	0.22033	N	0.065565	T	0.10423	0.0255	M	0.86028	2.79	0.21579	N	0.99964	B	0.26602	0.154	B	0.32677	0.15	T	0.07252	-1.0782	10	0.46703	T	0.11	.	9.4826	0.38911	0.3858:0.6142:0.0:0.0	.	46	Q3LI77	KR134_HUMAN	F	46	ENSP00000334834:S46F	ENSP00000334834:S46F	S	+	2	0	KRTAP13-4	30724601	0.031000	0.19500	0.387000	0.26183	0.145000	0.21501	0.974000	0.29436	1.349000	0.45751	0.650000	0.86243	TCT		0.632	KRTAP13-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128222.1			40	47	40	47	---	---	---	---
BRWD1	54014	broad.mit.edu	37	21	40668227	40668227	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr21:40668227C>T	ENST00000333229.2	-	6	739	c.412G>A	c.(412-414)Gaa>Aaa	p.E138K	BRWD1_ENST00000380800.3_Missense_Mutation_p.E138K|BRWD1_ENST00000470108.1_5'Flank|BRWD1_ENST00000342449.3_Missense_Mutation_p.E138K	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	138					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ACTGGCATTTCAGGAGGTCTT	0.378																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(412-414)Gaa>Aaa		bromodomain and WD repeat domain containing 1							128.0	134.0	132.0					21																	40668227		2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40668227C>T	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.412G>A	21.37:g.40668227C>T	ENSP00000330753:p.Glu138Lys		Somatic				BRWD1_ENST00000333229.2_Missense_Mutation_p.E138K|BRWD1_ENST00000380800.3_Missense_Mutation_p.E138K	p.E138K	NM_033656.3	NP_387505.1	WXS	Illumina GAIIx	Phase_I	Q9NSI6	BRWD1_HUMAN			6	490	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	138					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.412G>A	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	C	32	5.130995	0.94473	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.28895	1.59;1.59;1.59	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.62600	0.2441	M	0.83012	2.62	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.987;0.996	T	0.64089	-0.6489	10	0.62326	D	0.03	-16.78	20.3736	0.98901	0.0:1.0:0.0:0.0	.	138;138	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	K	138	ENSP00000330753:E138K;ENSP00000344333:E138K;ENSP00000370178:E138K	ENSP00000330753:E138K	E	-	1	0	BRWD1	39590097	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.364000	0.79526	2.820000	0.97059	0.650000	0.86243	GAA		0.378	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		54	31	54	31	---	---	---	---
PCDH11X	27328	broad.mit.edu	37	X	91132876	91132876	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chrX:91132876G>T	ENST00000373094.1	+	2	2482	c.1637G>T	c.(1636-1638)gGg>gTg	p.G546V	PCDH11X_ENST00000373097.1_Missense_Mutation_p.G546V|PCDH11X_ENST00000298274.8_Missense_Mutation_p.G546V|PCDH11X_ENST00000361724.1_Missense_Mutation_p.G546V|PCDH11X_ENST00000373088.1_Missense_Mutation_p.G546V|PCDH11X_ENST00000395337.2_Missense_Mutation_p.G546V|PCDH11X_ENST00000504220.2_Missense_Mutation_p.G546V|PCDH11X_ENST00000406881.1_Missense_Mutation_p.G546V|PCDH11X_ENST00000361655.2_Missense_Mutation_p.G546V	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	546	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AAAGATAACGGGGTACCACCC	0.383																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(1636-1638)gGg>gTg		protocadherin 11 X-linked							97.0	91.0	93.0					X																	91132876		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91132876G>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.1637G>T	X.37:g.91132876G>T	ENSP00000362186:p.Gly546Val		Somatic				PCDH11X_ENST00000361655.2_Missense_Mutation_p.G546V|PCDH11X_ENST00000373088.1_Missense_Mutation_p.G546V|PCDH11X_ENST00000395337.2_Missense_Mutation_p.G546V|PCDH11X_ENST00000504220.2_Missense_Mutation_p.G546V|PCDH11X_ENST00000298274.8_Missense_Mutation_p.G546V|PCDH11X_ENST00000373097.1_Missense_Mutation_p.G546V|PCDH11X_ENST00000361724.1_Missense_Mutation_p.G546V|PCDH11X_ENST00000406881.1_Missense_Mutation_p.G546V	p.G546V	NM_032968.3	NP_116750.1	WXS	Illumina GAIIx	Phase_I	Q9BZA7	PC11X_HUMAN			2	2482	+			546			Cadherin 5.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.1637G>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.269555	0.40095	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.74737	-0.87;-0.31;-0.31;-0.87;-0.31;-0.87;-0.31;-0.31;-0.31	5.38	5.38	0.77491	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.91630	0.7355	H	0.98133	4.155	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.94793	0.7964	10	0.87932	D	0	.	17.0331	0.86466	0.0:0.0:1.0:0.0	.	546;546;546;546;546;546;546;546	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	V	546	ENSP00000378746:G546V;ENSP00000362186:G546V;ENSP00000362189:G546V;ENSP00000355040:G546V;ENSP00000362180:G546V;ENSP00000423762:G546V;ENSP00000355105:G546V;ENSP00000384758:G546V;ENSP00000298274:G546V	ENSP00000298274:G546V	G	+	2	0	PCDH11X	91019532	1.000000	0.71417	0.855000	0.33649	0.329000	0.28539	9.507000	0.97996	2.231000	0.72958	0.544000	0.68410	GGG		0.383	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		62	12	62	12	---	---	---	---
CNOT1	23019	broad.mit.edu	37	16	58559108	58559109	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr16:58559108_58559109insT	ENST00000317147.5	-	46	7090_7091	c.6758_6759insA	c.(6757-6759)aatfs	p.N2253fs	CNOT1_ENST00000569240.1_Frame_Shift_Ins_p.N2248fs|CNOT1_ENST00000245138.4_Frame_Shift_Ins_p.N1104fs	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2253					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CCACAGCCAAATTCTGGAAGAT	0.47																																						ENST00000317147.5																			0				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(6757-6759)aatfs		CCR4-NOT transcription complex, subunit 1																																				SO:0001589	frameshift_variant	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58559108_58559109insT	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.6759dupA	16.37:g.58559110_58559110dupT	ENSP00000320949:p.Asn2253fs		Somatic				CNOT1_ENST00000569240.1_Frame_Shift_Ins_p.N2248fs|CNOT1_ENST00000245138.4_Frame_Shift_Ins_p.N1104fs	p.N2253fs	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	WXS	Illumina GAIIx	Phase_I	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	46	7090_7091	-			2253					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Frame_Shift_Ins	INS	ENST00000317147.5	37	c.6758_6759insA	CCDS10799.1																																																																																				0.470	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		9	243	9	243	---	---	---	---
NCOR1	9611	broad.mit.edu	37	17	15968316	15968317	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr17:15968316_15968317insG	ENST00000268712.3	-	34	5225_5226	c.4968_4969insC	c.(4966-4971)accaatfs	p.N1657fs	NCOR1_ENST00000395851.1_Frame_Shift_Ins_p.N1673fs|NCOR1_ENST00000395857.3_Frame_Shift_Ins_p.N241fs	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1657	Interaction with C1D. {ECO:0000250}.|Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GGAGGCATATTGGTCAGGTCAA	0.396																																						ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(4966-4971)accaatfs		nuclear receptor corepressor 1																																				SO:0001589	frameshift_variant	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15968316_15968317insG	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.4969dupC	17.37:g.15968318_15968318dupG	ENSP00000268712:p.Asn1657fs		Somatic				NCOR1_ENST00000395851.1_Frame_Shift_Ins_p.N1673fs|NCOR1_ENST00000395857.3_Frame_Shift_Ins_p.N241fs	p.N1657fs	NM_006311.3	NP_006302.2	WXS	Illumina GAIIx	Phase_I	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	34	5225_5226	-			1657			Interaction with C1D (By similarity).|Interaction with ETO.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Frame_Shift_Ins	INS	ENST00000268712.3	37	c.4968_4969insC	CCDS11175.1																																																																																				0.396	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		80	169	80	169	---	---	---	---
