#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_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	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
CROCCP2	84809	broad.mit.edu	37	1	16946393	16946393	+	lincRNA	SNP	G	G	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr1:16946393G>A	ENST00000412962.1	-	0	1126				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											TCCTGCTGCAGGGCAGCAATC	0.662																																						ENST00000412962.1																			0																																																			84809							g.chr1:16946393G>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946393G>A														0	1126	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.662	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		5	37	5	37	---	---	---	---
PLEKHA6	22874	broad.mit.edu	37	1	204236639	204236639	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr1:204236639A>G	ENST00000272203.3	-	5	560	c.244T>C	c.(244-246)Ttc>Ctc	p.F82L	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.F82L	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	82	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			ACCAGGACGAACCAGCGCTTG	0.587																																						ENST00000272203.3																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(244-246)Ttc>Ctc		pleckstrin homology domain containing, family A member 6							115.0	88.0	97.0					1																	204236639		2203	4300	6503	SO:0001583	missense	22874							g.chr1:204236639A>G	AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.244T>C	1.37:g.204236639A>G	ENSP00000272203:p.Phe82Leu					PLEKHA6_ENST00000414478.1_Missense_Mutation_p.F82L	p.F82L	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)		5	560	-	all_cancers(21;0.0222)|Breast(84;0.179)		82			PH.		A7MD51|Q5VTI6	Missense_Mutation	SNP	ENST00000272203.3	37	c.244T>C	CCDS1444.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.069700	0.76301	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.21191	2.02;2.02	5.51	5.51	0.81932	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.55305	0.1912	M	0.91612	3.225	0.80722	D	1	D	0.55385	0.971	D	0.72625	0.978	T	0.65315	-0.6198	10	0.62326	D	0.03	-25.6828	15.2951	0.73898	1.0:0.0:0.0:0.0	.	82	Q9Y2H5	PKHA6_HUMAN	L	82	ENSP00000272203:F82L;ENSP00000402046:F82L	ENSP00000272203:F82L	F	-	1	0	PLEKHA6	202503262	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.550000	0.82173	2.086000	0.62901	0.448000	0.29417	TTC		0.587	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		17	55	17	55	---	---	---	---
OR2T35	403244	broad.mit.edu	37	1	248801912	248801912	+	Silent	SNP	C	C	G	rs1770044	byFrequency	TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr1:248801912C>G	ENST00000317450.3	-	1	647	c.648G>C	c.(646-648)gtG>gtC	p.V216V		NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	olfactory receptor, family 2, subfamily T, member 35	216						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V216V(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCGTGTAGGACACAGAGATGA	0.542																																						ENST00000317450.3																			1	Substitution - coding silent(1)	p.V216V(1)	endometrium(1)	endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6						c.(646-648)gtG>gtC		olfactory receptor, family 2, subfamily T, member 35							132.0	107.0	115.0					1																	248801912		2057	4250	6307	SO:0001819	synonymous_variant	403244				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248801912C>G	BK004475	CCDS31123.1	1q44	2012-08-09			ENSG00000177151	ENSG00000177151		"""GPCR / Class A : Olfactory receptors"""	31257	protein-coding gene	gene with protein product							Standard	NM_001001827		Approved		uc001ies.1	Q8NGX2	OTTHUMG00000040380	ENST00000317450.3:c.648G>C	1.37:g.248801912C>G							p.V216V	NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	647	-	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	216					Q6IEY7	Silent	SNP	ENST00000317450.3	37	c.648G>C	CCDS31123.1																																																																																				0.542	OR2T35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097130.1	NM_001001827		3	20	3	20	---	---	---	---
LRRFIP1	9208	broad.mit.edu	37	2	238668784	238668784	+	Silent	SNP	A	A	G			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr2:238668784A>G	ENST00000392000.4	+	10	942	c.825A>G	c.(823-825)caA>caG	p.Q275Q	LRRFIP1_ENST00000244815.5_Silent_p.Q251Q|LRRFIP1_ENST00000308482.9_Silent_p.Q465Q|LRRFIP1_ENST00000289175.6_Silent_p.Q219Q	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	275			Q -> R (in dbSNP:rs3213869).		innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		TTGGATACCAAGGTCCTACCA	0.433																																						ENST00000244815.5																			0				NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29						c.(751-753)caA>caG		leucine rich repeat (in FLII) interacting protein 1							112.0	106.0	108.0					2																	238668784		2203	4300	6503	SO:0001819	synonymous_variant	9208				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding	g.chr2:238668784A>G	AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"""GC-binding factor 2"""	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.825A>G	2.37:g.238668784A>G						LRRFIP1_ENST00000308482.9_Silent_p.Q465Q|LRRFIP1_ENST00000289175.6_Silent_p.Q219Q|LRRFIP1_ENST00000392000.4_Silent_p.Q275Q	p.Q251Q	NM_004735.3	NP_004726.2	Q32MZ4	LRRF1_HUMAN		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)	9	993	+		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	275					E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Silent	SNP	ENST00000392000.4	37	c.753A>G	CCDS46552.1																																																																																				0.433	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317198.1	NM_004735		20	45	20	45	---	---	---	---
METTL6	131965	broad.mit.edu	37	3	15467811	15467811	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr3:15467811G>C	ENST00000443029.1	-	2	448	c.208C>G	c.(208-210)Cta>Gta	p.L70V	METTL6_ENST00000450816.2_Missense_Mutation_p.L70V|METTL6_ENST00000383789.5_Missense_Mutation_p.L70V|EAF1_ENST00000432764.2_5'Flank|EAF1_ENST00000396842.2_5'Flank|METTL6_ENST00000383790.3_Missense_Mutation_p.L70V			Q8TCB7	METL6_HUMAN	methyltransferase like 6	70							methyltransferase activity (GO:0008168)			endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						CATGATCTTAGCTCCTCAAAC	0.398																																						ENST00000443029.1																			0				endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						c.(208-210)Cta>Gta		methyltransferase like 6							165.0	151.0	156.0					3																	15467811		1887	4119	6006	SO:0001583	missense	131965						methyltransferase activity	g.chr3:15467811G>C	AK057791	CCDS43056.1	3p25.1	2005-11-02			ENSG00000206562	ENSG00000206562			28343	protein-coding gene	gene with protein product						12477932	Standard	NM_152396		Approved	MGC24132	uc003bzs.1	Q8TCB7	OTTHUMG00000156431	ENST00000443029.1:c.208C>G	3.37:g.15467811G>C	ENSP00000407613:p.Leu70Val					METTL6_ENST00000383790.3_Missense_Mutation_p.L70V|METTL6_ENST00000450816.2_Missense_Mutation_p.L70V|METTL6_ENST00000383789.5_Missense_Mutation_p.L70V	p.L70V			Q8TCB7	METL6_HUMAN			2	448	-			70					Q96LU4	Missense_Mutation	SNP	ENST00000443029.1	37	c.208C>G	CCDS43056.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.168843	0.57584	.	.	ENSG00000206562	ENST00000383790;ENST00000450816;ENST00000383789	T;T;T	0.75367	-0.93;-0.93;-0.93	5.4	3.59	0.41128	.	0.000000	0.85682	D	0.000000	D	0.85340	0.5674	M	0.84948	2.725	0.53688	D	0.999978	D;P;P	0.65815	0.995;0.918;0.866	D;P;P	0.68765	0.96;0.835;0.566	D	0.85690	0.1306	10	0.87932	D	0	-9.2044	10.6555	0.45673	0.2181:0.0:0.7819:0.0	.	70;70;70	B4DDX3;Q8TCB7-2;Q8TCB7	.;.;METL6_HUMAN	V	70	ENSP00000373300:L70V;ENSP00000410726:L70V;ENSP00000373299:L70V	ENSP00000373299:L70V	L	-	1	2	METTL6	15442815	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	2.740000	0.47418	0.625000	0.30304	0.555000	0.69702	CTA		0.398	METTL6-007	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346373.1	NM_152396		9	51	9	51	---	---	---	---
C3orf17	25871	broad.mit.edu	37	3	112732806	112732806	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr3:112732806G>A	ENST00000314400.5	-	3	526	c.335C>T	c.(334-336)tCt>tTt	p.S112F	C3orf17_ENST00000383675.2_Missense_Mutation_p.S112F|C3orf17_ENST00000472762.1_5'Flank|C3orf17_ENST00000393857.2_5'UTR	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	112					negative regulation of neuron differentiation (GO:0045665)|positive regulation of Notch signaling pathway (GO:0045747)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						TTACTTGGAAGAAAACAACTC	0.408																																						ENST00000314400.5																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						c.(334-336)tCt>tTt		chromosome 3 open reading frame 17							219.0	216.0	217.0					3																	112732806		2203	4300	6503	SO:0001583	missense	25871					integral to membrane		g.chr3:112732806G>A	AL117573	CCDS33824.1	3q13.2	2009-11-06			ENSG00000163608	ENSG00000163608			24496	protein-coding gene	gene with protein product						12477932	Standard	NR_027794		Approved	DKFZP434F2021, NET17	uc003dzr.3	Q6NW34	OTTHUMG00000159286	ENST00000314400.5:c.335C>T	3.37:g.112732806G>A	ENSP00000320251:p.Ser112Phe					C3orf17_ENST00000393857.2_5'UTR|C3orf17_ENST00000383675.2_Missense_Mutation_p.S112F	p.S112F	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN			3	526	-			112					D3DN69|Q68DM6|Q9H7U0|Q9UFM4	Missense_Mutation	SNP	ENST00000314400.5	37	c.335C>T	CCDS33824.1	.	.	.	.	.	.	.	.	.	.	G	4.567	0.105412	0.08731	.	.	ENSG00000163608	ENST00000314400;ENST00000383675;ENST00000472166	T;T;T	0.47869	0.83;0.83;0.83	4.5	2.67	0.31697	.	0.151474	0.64402	D	0.000012	T	0.32852	0.0843	L	0.38531	1.155	0.80722	D	1	B;B;B	0.20671	0.018;0.013;0.047	B;B;B	0.19946	0.027;0.01;0.022	T	0.10894	-1.0610	10	0.40728	T	0.16	-10.1463	5.6455	0.17586	0.0989:0.0:0.7087:0.1924	.	15;112;112	E7EN80;Q6NW34-2;Q6NW34	.;.;CC017_HUMAN	F	112;112;37	ENSP00000320251:S112F;ENSP00000373173:S112F;ENSP00000417613:S37F	ENSP00000320251:S112F	S	-	2	0	C3orf17	114215496	1.000000	0.71417	0.961000	0.40146	0.664000	0.39144	3.446000	0.52928	0.807000	0.34208	-0.254000	0.11334	TCT		0.408	C3orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354405.3	NM_015412		84	133	84	133	---	---	---	---
TF	7018	broad.mit.edu	37	3	133465321	133465321	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr3:133465321G>A	ENST00000402696.3	+	1	522	c.37G>A	c.(37-39)Gtc>Atc	p.V13I	TF_ENST00000264998.3_5'UTR|TFP1_ENST00000460564.1_RNA	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	13					blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	GGTCTGCGCCGTCCTGGGTGA	0.736																																						ENST00000402696.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(37-39)Gtc>Atc		transferrin	Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)						14.0	15.0	15.0					3																	133465321		2194	4287	6481	SO:0001583	missense	7018				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding	g.chr3:133465321G>A		CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.37G>A	3.37:g.133465321G>A	ENSP00000385834:p.Val13Ile					TF_ENST00000264998.3_5'UTR|TFP1_ENST00000460564.1_RNA	p.V13I	NM_001063.3	NP_001054	P02787	TRFE_HUMAN			1	522	+			13					O43890|Q1HBA5|Q9NQB8|Q9UHV0	Missense_Mutation	SNP	ENST00000402696.3	37	c.37G>A	CCDS3080.1	.	.	.	.	.	.	.	.	.	.	G	9.593	1.126657	0.20959	.	.	ENSG00000091513	ENST00000402696	T	0.02121	4.44	4.67	-1.77	0.07982	.	0.929072	0.09359	N	0.812960	T	0.01730	0.0055	L	0.35723	1.085	0.23232	N	0.998075	B	0.21147	0.052	B	0.08055	0.003	T	0.49163	-0.8968	10	0.16896	T	0.51	-2.3118	3.4146	0.07371	0.2674:0.0:0.2879:0.4447	.	13	P02787	TRFE_HUMAN	I	13	ENSP00000385834:V13I	ENSP00000385834:V13I	V	+	1	0	TF	134948011	0.003000	0.15002	0.213000	0.23690	0.691000	0.40173	-0.148000	0.10219	-0.231000	0.09825	0.561000	0.74099	GTC		0.736	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063		3	25	3	25	---	---	---	---
TFDP2	7029	broad.mit.edu	37	3	141671514	141671514	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr3:141671514A>T	ENST00000489671.1	-	13	1612	c.1182T>A	c.(1180-1182)gaT>gaA	p.D394E	TFDP2_ENST00000495310.1_Missense_Mutation_p.D297E|TFDP2_ENST00000477292.1_Missense_Mutation_p.D258E|TFDP2_ENST00000479040.1_Missense_Mutation_p.D333E|TFDP2_ENST00000499676.2_Missense_Mutation_p.D334E|TFDP2_ENST00000486111.1_Missense_Mutation_p.D334E|TFDP2_ENST00000467072.1_Missense_Mutation_p.D334E|TFDP2_ENST00000310282.6_Missense_Mutation_p.D334E|TFDP2_ENST00000397991.4_Missense_Mutation_p.D366E|TFDP2_ENST00000317104.7_Missense_Mutation_p.D318E			Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	394					gene expression (GO:0010467)|heart development (GO:0007507)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			kidney(1)|upper_aerodigestive_tract(2)	3						CCACTTCTGCATCCAAGCATA	0.483																																						ENST00000499676.2																			0				kidney(1)|upper_aerodigestive_tract(2)	3						c.(1000-1002)gaT>gaA		transcription factor Dp-2 (E2F dimerization partner 2)							50.0	53.0	52.0					3																	141671514		1963	4143	6106	SO:0001583	missense	7029				cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding	g.chr3:141671514A>T	U18422	CCDS43159.1, CCDS54647.1, CCDS54648.1, CCDS54649.1, CCDS54650.1	3q23	2011-05-24			ENSG00000114126	ENSG00000114126			11751	protein-coding gene	gene with protein product		602160				7784053, 9027491	Standard	NM_001178138		Approved	Dp-2	uc003eun.4	Q14188	OTTHUMG00000164975	ENST00000489671.1:c.1182T>A	3.37:g.141671514A>T	ENSP00000420616:p.Asp394Glu					TFDP2_ENST00000317104.7_Missense_Mutation_p.D318E|TFDP2_ENST00000489671.1_Missense_Mutation_p.D394E|TFDP2_ENST00000397991.4_Missense_Mutation_p.D366E|TFDP2_ENST00000310282.6_Missense_Mutation_p.D334E|TFDP2_ENST00000467072.1_Missense_Mutation_p.D334E|TFDP2_ENST00000495310.1_Missense_Mutation_p.D297E|TFDP2_ENST00000477292.1_Missense_Mutation_p.D258E|TFDP2_ENST00000479040.1_Missense_Mutation_p.D333E|TFDP2_ENST00000486111.1_Missense_Mutation_p.D334E	p.D334E	NM_001178139.1	NP_001171610.1	Q14188	TFDP2_HUMAN			13	1673	-			394					B7Z8C8|B7Z8L5|D3DNG1|E9PFC3|F8WAI2|Q13331|Q14187|Q6R754|Q8WU88|Q9UG28	Missense_Mutation	SNP	ENST00000489671.1	37	c.1002T>A	CCDS54650.1	.	.	.	.	.	.	.	.	.	.	A	15.77	2.932857	0.52866	.	.	ENSG00000114126	ENST00000499676;ENST00000489671;ENST00000486111;ENST00000477292;ENST00000495310;ENST00000467072;ENST00000317104;ENST00000310282;ENST00000479040;ENST00000397991	T;T;T;T;T;T;T;T;T;T	0.50277	1.73;1.69;1.73;0.77;0.75;1.73;1.74;1.73;1.73;1.66	6.08	-0.659	0.11424	.	0.066813	0.64402	D	0.000010	T	0.26231	0.0640	N	0.19112	0.55	0.33703	D	0.61486	B;B;B	0.17465	0.001;0.013;0.022	B;B;B	0.17433	0.002;0.008;0.018	T	0.08617	-1.0713	10	0.36615	T	0.2	-9.9845	6.3399	0.21316	0.5399:0.127:0.3332:0.0	.	297;394;334	B7Z8L5;Q14188;Q14188-5	.;TFDP2_HUMAN;.	E	334;394;334;258;297;334;318;334;333;366	ENSP00000439782:D334E;ENSP00000420616:D394E;ENSP00000420599:D334E;ENSP00000418971:D258E;ENSP00000419036:D297E;ENSP00000418590:D334E;ENSP00000315668:D318E;ENSP00000309622:D334E;ENSP00000417585:D333E;ENSP00000381078:D366E	ENSP00000309622:D334E	D	-	3	2	TFDP2	143154204	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	2.891000	0.48617	-0.034000	0.13713	0.482000	0.46254	GAT		0.483	TFDP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353294.4	NM_006286		4	53	4	53	---	---	---	---
POU4F2	5458	broad.mit.edu	37	4	147561671	147561671	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr4:147561671C>G	ENST00000281321.3	+	2	1189	c.941C>G	c.(940-942)gCg>gGg	p.A314G	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	314	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					AATATGATCGCGCTCAAACCC	0.602																																						ENST00000281321.3																			0				NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33						c.(940-942)gCg>gGg		POU class 4 homeobox 2							76.0	79.0	78.0					4																	147561671		2203	4300	6503	SO:0001583	missense	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147561671C>G	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.941C>G	4.37:g.147561671C>G	ENSP00000281321:p.Ala314Gly						p.A314G	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN			2	1189	+	all_hematologic(180;0.151)		314			POU-specific.		B1PJR6|B2RC84|Q13883|Q14987	Missense_Mutation	SNP	ENST00000281321.3	37	c.941C>G	CCDS34074.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.601147	0.66332	.	.	ENSG00000151615	ENST00000281321	D	0.83755	-1.76	5.37	5.37	0.77165	POU-specific (3);Lambda repressor-like, DNA-binding (2);POU (1);	0.000000	0.85682	D	0.000000	D	0.91768	0.7396	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92491	0.6000	10	0.72032	D	0.01	.	19.1135	0.93328	0.0:1.0:0.0:0.0	.	314	Q12837	PO4F2_HUMAN	G	314	ENSP00000281321:A314G	ENSP00000281321:A314G	A	+	2	0	POU4F2	147781121	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.796000	0.85898	2.528000	0.85240	0.561000	0.74099	GCG		0.602	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		18	71	18	71	---	---	---	---
PCDHGA9	56107	broad.mit.edu	37	5	140783165	140783165	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr5:140783165G>T	ENST00000573521.1	+	1	646	c.646G>T	c.(646-648)Gat>Tat	p.D216Y	PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	216	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGGCCTCGGATGGCGGCGA	0.597																																						ENST00000573521.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(646-648)Gat>Tat									27.0	32.0	30.0					5																	140783165		2045	4187	6232	SO:0001583	missense	56107							g.chr5:140783165G>T	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.646G>T	5.37:g.140783165G>T	ENSP00000460274:p.Asp216Tyr					PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron	p.D216Y	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	646	+								A2RU65|Q9Y5C9	Missense_Mutation	SNP	ENST00000573521.1	37	c.646G>T	CCDS58981.1																																																																																				0.597	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921		10	52	10	52	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152646275	152646275	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr6:152646275C>G	ENST00000367255.5	-	81	16202	c.15601G>C	c.(15601-15603)Gac>Cac	p.D5201H	SYNE1_ENST00000423061.1_Missense_Mutation_p.D5130H|SYNE1_ENST00000448038.1_Missense_Mutation_p.D5130H|SYNE1_ENST00000341594.5_Missense_Mutation_p.D4894H|SYNE1_ENST00000265368.4_Missense_Mutation_p.D5201H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5201					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCTCCTGGTCCTGGGCCACA	0.537										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(15601-15603)Gac>Cac		spectrin repeat containing, nuclear envelope 1							186.0	157.0	167.0					6																	152646275		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152646275C>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.15601G>C	6.37:g.152646275C>G	ENSP00000356224:p.Asp5201His	HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Missense_Mutation_p.D4894H|SYNE1_ENST00000423061.1_Missense_Mutation_p.D5130H|SYNE1_ENST00000265368.4_Missense_Mutation_p.D5201H|SYNE1_ENST00000448038.1_Missense_Mutation_p.D5130H	p.D5201H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	81	16202	-		Ovarian(120;0.0955)	5201					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.15601G>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	21.3	4.129915	0.77549	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.3	5.81	5.81	0.92471	.	0.095023	0.45867	D	0.000335	T	0.48447	0.1500	M	0.63428	1.95	0.80722	D	1	D;P;P;P	0.59357	0.985;0.943;0.943;0.928	P;P;P;P	0.58970	0.849;0.547;0.547;0.662	T	0.36817	-0.9732	10	0.49607	T	0.09	.	20.0912	0.97820	0.0:1.0:0.0:0.0	.	5201;5201;5201;5130	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	H	5201;5130;5201;5130;4894	ENSP00000356224:D5201H;ENSP00000396024:D5130H;ENSP00000265368:D5201H;ENSP00000390975:D5130H;ENSP00000341887:D4894H	ENSP00000265368:D5201H	D	-	1	0	SYNE1	152687968	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.442000	0.80503	2.746000	0.94184	0.591000	0.81541	GAC		0.537	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		78	79	78	79	---	---	---	---
EPDR1	54749	broad.mit.edu	37	7	37960746	37960746	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr7:37960746T>A	ENST00000199448.4	+	1	584	c.205T>A	c.(205-207)Tac>Aac	p.Y69N	EPDR1_ENST00000559325.1_Missense_Mutation_p.Y189N|EPDR1_ENST00000425345.1_5'Flank|EPDR1_ENST00000476620.1_Intron|EPDR1_ENST00000423717.1_Missense_Mutation_p.Y69N	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	69					cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						CCTGCTCTCCTACGACGGGCT	0.706																																						ENST00000199448.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(205-207)Tac>Aac		ependymin related 1							13.0	14.0	14.0					7																	37960746		2098	4117	6215	SO:0001583	missense	54749				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr7:37960746T>A	BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"""ependymin related protein 1 (zebrafish)"""			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.205T>A	7.37:g.37960746T>A	ENSP00000199448:p.Tyr69Asn					EPDR1_ENST00000559325.1_Missense_Mutation_p.Y189N|EPDR1_ENST00000476620.1_Intron|EPDR1_ENST00000423717.1_Missense_Mutation_p.Y69N	p.Y69N	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN			1	584	+			69					A8K4C0|C9JYS3|Q06BL0|Q99M77	Missense_Mutation	SNP	ENST00000199448.4	37	c.205T>A	CCDS5454.2	.	.	.	.	.	.	.	.	.	.	T	22.9	4.350150	0.82132	.	.	ENSG00000086289	ENST00000199448;ENST00000423717	.	.	.	4.04	4.04	0.47022	.	0.000000	0.85682	D	0.000000	T	0.76140	0.3946	M	0.76727	2.345	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.78947	-0.2003	9	0.87932	D	0	-16.4635	10.8623	0.46833	0.0:0.0:0.0:1.0	.	189	A4D1W8	.	N	189;163	.	ENSP00000199448:Y189N	Y	+	1	0	EPDR1	37927271	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	4.821000	0.62679	1.807000	0.52817	0.260000	0.18958	TAC		0.706	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220037.3	NM_017549		14	38	14	38	---	---	---	---
TRGC1	6966	broad.mit.edu	37	7	38299789	38299789	+	RNA	SNP	A	A	G	rs117590081	byFrequency	TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr7:38299789A>G	ENST00000443402.2	-	0	420					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1	P0CF51	TRGC1_HUMAN	T cell receptor gamma constant 1							integral component of membrane (GO:0016021)											GAGGAGGTACATGTAATATGC	0.423																																						ENST00000443402.2																			0																				183.0	204.0	197.0					7																	38299789		1995	4208	6203			6966							g.chr7:38299789A>G	M14996		7p14	2012-02-07			ENSG00000211689	ENSG00000211689		"""T cell receptors / TRG locus"""	12275	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C1"""	186970		TCRGC1		2879283	Standard	NG_001336		Approved	C1		P0CF51	OTTHUMG00000155219		7.37:g.38299789A>G								NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1					0	420	-									RNA	SNP	ENST00000443402.2	37																																																																																						0.423	TRGC1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338825.3	NG_001336		3	21	3	21	---	---	---	---
CCDC136	64753	broad.mit.edu	37	7	128450335	128450335	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr7:128450335G>A	ENST00000297788.4	+	12	2310	c.1943G>A	c.(1942-1944)cGt>cAt	p.R648H	CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000378685.4_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	648						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GAGCTGCGACGTTTCAAAGAG	0.433																																						ENST00000297788.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						c.(1942-1944)cGt>cAt		coiled-coil domain containing 136							68.0	65.0	66.0					7																	128450335		1945	4146	6091	SO:0001583	missense	64753					integral to membrane	protein binding	g.chr7:128450335G>A		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.1943G>A	7.37:g.128450335G>A	ENSP00000297788:p.Arg648His					CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000378685.4_Intron	p.R648H	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN			12	2310	+			648					A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Missense_Mutation	SNP	ENST00000297788.4	37	c.1943G>A	CCDS47704.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	8.040|8.040	0.763572|0.763572	0.15914|0.15914	.|.	.|.	ENSG00000128596|ENSG00000128596	ENST00000297788;ENST00000397697;ENST00000320524;ENST00000464672|ENST00000494552	T;T|.	0.29655|.	1.56;1.56|.	5.96|5.96	-11.9|-11.9	0.00025|0.00025	.|.	2.356960|.	0.01268|.	N|.	0.009375|.	T|T	0.09423|0.09423	0.0232|0.0232	N|N	0.02539|0.02539	-0.55|-0.55	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.10613|0.10613	-1.0622|-1.0622	10|5	0.23302|.	T|.	0.38|.	6.9503|6.9503	5.7642|5.7642	0.18217|0.18217	0.5825:0.0671:0.2288:0.1215|0.5825:0.0671:0.2288:0.1215	.|.	648;648|.	Q96JN2-2;Q96JN2|.	.;CC136_HUMAN|.	H|I	648;648;648;239|525	ENSP00000297788:R648H;ENSP00000417991:R239H|.	ENSP00000297788:R648H|.	R|V	+|+	2|1	0|0	CCDC136|CCDC136	128237571|128237571	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-2.963000|-2.963000	0.00671|0.00671	-2.302000|-2.302000	0.00657|0.00657	-1.598000|-1.598000	0.00824|0.00824	CGT|GTT		0.433	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742		8	46	8	46	---	---	---	---
SLC7A2	6542	broad.mit.edu	37	8	17418005	17418005	+	Silent	SNP	G	G	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr8:17418005G>A	ENST00000494857.1	+	10	1685	c.1467G>A	c.(1465-1467)caG>caA	p.Q489Q	SLC7A2_ENST00000470360.1_Silent_p.Q528Q|SLC7A2_ENST00000398090.3_Silent_p.Q528Q|SLC7A2_ENST00000522656.1_Silent_p.Q489Q|SLC7A2_ENST00000004531.10_Silent_p.Q529Q	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	489					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CAACACAGCAGTCAGCTTCTC	0.532																																						ENST00000470360.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25						c.(1582-1584)caG>caA		solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	L-Lysine(DB00123)|L-Ornithine(DB00129)						156.0	140.0	145.0					8																	17418005		2203	4300	6503	SO:0001819	synonymous_variant	6542				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity	g.chr8:17418005G>A	D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"""Solute carriers"""	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.1467G>A	8.37:g.17418005G>A						SLC7A2_ENST00000004531.10_Silent_p.Q529Q|SLC7A2_ENST00000522656.1_Silent_p.Q489Q|SLC7A2_ENST00000398090.3_Silent_p.Q528Q|SLC7A2_ENST00000494857.1_Silent_p.Q489Q	p.Q528Q			P52569	CTR2_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	11	1701	+			489					B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Silent	SNP	ENST00000494857.1	37	c.1584G>A	CCDS34852.1																																																																																				0.532	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046		59	42	59	42	---	---	---	---
XPO7	23039	broad.mit.edu	37	8	21829421	21829421	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr8:21829421T>G	ENST00000252512.9	+	5	561	c.461T>G	c.(460-462)aTt>aGt	p.I154S	XPO7_ENST00000433566.4_Missense_Mutation_p.I155S|XPO7_ENST00000434536.1_Missense_Mutation_p.I154S|XPO7_ENST00000518017.1_3'UTR	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	154					mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		GGTGTCACAATTTTATCTCAG	0.353																																						ENST00000434536.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(460-462)aTt>aGt		exportin 7							198.0	189.0	192.0					8																	21829421		1895	4120	6015	SO:0001583	missense	23039				mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity	g.chr8:21829421T>G	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"""Exportins"""	14108	protein-coding gene	gene with protein product		606140	"""RAN binding protein 16"""	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.461T>G	8.37:g.21829421T>G	ENSP00000252512:p.Ile154Ser					XPO7_ENST00000433566.4_Missense_Mutation_p.I155S|XPO7_ENST00000518017.1_3'UTR|XPO7_ENST00000252512.9_Missense_Mutation_p.I154S	p.I154S			Q9UIA9	XPO7_HUMAN		Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)	5	563	+			154					O94846|Q6PJK9|Q8NEK7	Missense_Mutation	SNP	ENST00000252512.9	37	c.461T>G	CCDS47818.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.90|18.90	3.721873|3.721873	0.68959|0.68959	.|.	.|.	ENSG00000130227|ENSG00000130227	ENST00000521303|ENST00000434536;ENST00000252512;ENST00000433566	.|T;T;T	.|0.71341	.|-0.56;-0.56;-0.56	5.64|5.64	5.64|5.64	0.86602|0.86602	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.055778	.|0.64402	.|D	.|0.000001	D|D	0.83640|0.83640	0.5298|0.5298	M|M	0.90082|0.90082	3.085|3.085	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.49696	.|0.843;0.927;0.778	.|B;P;P	.|0.53689	.|0.375;0.732;0.732	D|D	0.87350|0.87350	0.2337|0.2337	5|10	.|0.87932	.|D	.|0	-13.4666|-13.4666	15.8025|15.8025	0.78463|0.78463	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|155;154;154	.|E7ESC6;E9PEN8;Q9UIA9	.|.;.;XPO7_HUMAN	V|S	159|154;154;155	.|ENSP00000404853:I154S;ENSP00000252512:I154S;ENSP00000410249:I155S	.|ENSP00000252512:I154S	F|I	+|+	1|2	0|0	XPO7|XPO7	21885367|21885367	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.939000|7.939000	0.87685|0.87685	2.276000|2.276000	0.75962|0.75962	0.533000|0.533000	0.62120|0.62120	TTT|ATT		0.353	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024		42	30	42	30	---	---	---	---
CUL2	8453	broad.mit.edu	37	10	35318439	35318439	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr10:35318439T>G	ENST00000374748.1	-	16	1829	c.1516A>C	c.(1516-1518)Agt>Cgt	p.S506R	CUL2_ENST00000374749.3_Missense_Mutation_p.S506R|CUL2_ENST00000374746.1_Missense_Mutation_p.S506R|CUL2_ENST00000602371.1_Missense_Mutation_p.S449R|CUL2_ENST00000374742.1_Missense_Mutation_p.S506R|CUL2_ENST00000374751.3_Missense_Mutation_p.S506R|CUL2_ENST00000537177.1_Missense_Mutation_p.S525R			Q13617	CUL2_HUMAN	cullin 2	506					cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						ATTTGAAAACTAATTCCCAAA	0.318																																						ENST00000374748.1																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						c.(1516-1518)Agt>Cgt		cullin 2							75.0	71.0	72.0					10																	35318439		2203	4300	6503	SO:0001583	missense	8453				cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr10:35318439T>G	U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.1516A>C	10.37:g.35318439T>G	ENSP00000363880:p.Ser506Arg					CUL2_ENST00000602371.1_Missense_Mutation_p.S449R|CUL2_ENST00000374746.1_Missense_Mutation_p.S506R|CUL2_ENST00000537177.1_Missense_Mutation_p.S525R|CUL2_ENST00000374751.3_Missense_Mutation_p.S506R|CUL2_ENST00000374742.1_Missense_Mutation_p.S506R|CUL2_ENST00000374749.3_Missense_Mutation_p.S506R	p.S506R			Q13617	CUL2_HUMAN			16	1829	-			506					B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Missense_Mutation	SNP	ENST00000374748.1	37	c.1516A>C	CCDS7179.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.338582	0.81911	.	.	ENSG00000108094	ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374754;ENST00000374742;ENST00000537177	T;T;T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78;-0.78;-0.78	6.06	6.06	0.98353	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	T	0.75925	0.3916	L	0.32530	0.975	0.80722	D	1	P;P;P	0.47034	0.889;0.778;0.814	P;P;P	0.52554	0.641;0.577;0.702	T	0.78198	-0.2297	10	0.66056	D	0.02	-22.4513	16.6245	0.84952	0.0:0.0:0.0:1.0	.	506;525;506	Q5T2B5;G3V1S2;Q13617	.;.;CUL2_HUMAN	R	506;506;506;506;449;506;525	ENSP00000363883:S506R;ENSP00000363880:S506R;ENSP00000363878:S506R;ENSP00000363881:S506R;ENSP00000363874:S506R;ENSP00000444856:S525R	ENSP00000363874:S506R	S	-	1	0	CUL2	35358445	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.282000	0.72639	2.323000	0.78572	0.528000	0.53228	AGT		0.318	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047538.1	NM_003591		8	15	8	15	---	---	---	---
CYP2C8	1558	broad.mit.edu	37	10	96827440	96827440	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr10:96827440T>G	ENST00000371270.3	-	2	271	c.177A>C	c.(175-177)aaA>aaC	p.K59N	CYP2C8_ENST00000535898.1_Intron|CYP2C8_ENST00000539050.1_5'UTR	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	59					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|omega-hydroxylase P450 pathway (GO:0097267)|organic acid metabolic process (GO:0006082)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Abiraterone(DB05812)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Almotriptan(DB00918)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Candesartan(DB00796)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cisapride(DB00604)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Domperidone(DB01184)|Eltrombopag(DB06210)|Enzalutamide(DB08899)|Erlotinib(DB00530)|Estradiol(DB00783)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fluorouracil(DB00544)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Halofantrine(DB01218)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Liotrix(DB01583)|Loperamide(DB00836)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Methadone(DB00333)|Metronidazole(DB00916)|Mirtazapine(DB00370)|Mometasone(DB00764)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Naloxone(DB01183)|Naproxen(DB00788)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Omeprazole(DB00338)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paramethadione(DB00617)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Perphenazine(DB00850)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quinidine(DB00908)|Quinine(DB00468)|Raloxifene(DB00481)|Regorafenib(DB08896)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Salmeterol(DB00938)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Sorafenib(DB00398)|Spironolactone(DB00421)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Tazarotene(DB00799)|Temazepam(DB00231)|Terbinafine(DB00857)|Testosterone(DB00624)|Theophylline(DB00277)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Torasemide(DB00214)|Trametinib(DB08911)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vismodegib(DB08828)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zopiclone(DB01198)	GACCATAGACTTTTGAGAACT	0.388																																						ENST00000371270.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21						c.(175-177)aaA>aaC		cytochrome P450, family 2, subfamily C, polypeptide 8	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)						77.0	72.0	74.0					10																	96827440		2203	4300	6503	SO:0001583	missense	1558				exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding	g.chr10:96827440T>G	M17397	CCDS7438.1, CCDS55721.1, CCDS73166.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138115	ENSG00000138115		"""Cytochrome P450s"""	2622	protein-coding gene	gene with protein product		601129	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8"""			7841444	Standard	NM_001198853		Approved	CPC8	uc001kkb.3	P10632	OTTHUMG00000018804	ENST00000371270.3:c.177A>C	10.37:g.96827440T>G	ENSP00000360317:p.Lys59Asn					CYP2C8_ENST00000539050.1_5'UTR|CYP2C8_ENST00000535898.1_Intron	p.K59N	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN		all cancers(201;6.21e-05)	2	271	-		Colorectal(252;0.0397)	59					A8K9N8|B0AZN2|B7Z1F6|Q5VX93|Q8WWB1|Q9UCZ9	Missense_Mutation	SNP	ENST00000371270.3	37	c.177A>C	CCDS7438.1	.	.	.	.	.	.	.	.	.	.	T	12.50	1.957454	0.34565	.	.	ENSG00000138115	ENST00000371270	T	0.71934	-0.61	4.86	3.73	0.42828	.	0.222293	0.36555	U	0.002525	T	0.72317	0.3445	M	0.83852	2.665	0.43846	D	0.996435	P	0.34522	0.455	B	0.40134	0.32	T	0.72616	-0.4239	10	0.87932	D	0	.	5.9565	0.19275	0.0:0.2731:0.0:0.7269	.	59	P10632	CP2C8_HUMAN	N	59	ENSP00000360317:K59N	ENSP00000360317:K59N	K	-	3	2	CYP2C8	96817430	0.031000	0.19500	0.009000	0.14445	0.021000	0.10359	0.463000	0.21972	0.903000	0.36546	0.459000	0.35465	AAA		0.388	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049499.2	NM_000770		12	16	12	16	---	---	---	---
OR4A15	81328	broad.mit.edu	37	11	55135991	55135991	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr11:55135991C>A	ENST00000314706.3	+	1	632	c.632C>A	c.(631-633)cCc>cAc	p.P211H		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	211						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GATTTGTATCCCTTATTGAAA	0.413																																						ENST00000314706.3																			0				NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						c.(631-633)cCc>cAc		olfactory receptor, family 4, subfamily A, member 15							138.0	128.0	131.0					11																	55135991		2201	4293	6494	SO:0001583	missense	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55135991C>A	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.632C>A	11.37:g.55135991C>A	ENSP00000325065:p.Pro211His						p.P211H	NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN			1	632	+			211					Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	c.632C>A	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	-	8.983	0.975818	0.18736	.	.	ENSG00000181958	ENST00000314706	T	0.00211	8.54	3.65	2.73	0.32206	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000134	T	0.00695	0.0023	H	0.94462	3.54	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	T	0.21999	-1.0229	10	0.87932	D	0	.	8.7222	0.34447	0.0:0.8837:0.0:0.1163	.	211	Q8NGL6	O4A15_HUMAN	H	211	ENSP00000325065:P211H	ENSP00000325065:P211H	P	+	2	0	OR4A15	54892567	0.000000	0.05858	0.007000	0.13788	0.048000	0.14542	0.086000	0.14935	0.742000	0.32697	0.492000	0.49549	CCC		0.413	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		16	85	16	85	---	---	---	---
OR5D13	390142	broad.mit.edu	37	11	55541087	55541087	+	Silent	SNP	T	T	C			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr11:55541087T>C	ENST00000361760.1	+	1	174	c.174T>C	c.(172-174)caT>caC	p.H58H		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				CAAAACTCCATACAATCATGT	0.403																																						ENST00000361760.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(172-174)caT>caC		olfactory receptor, family 5, subfamily D, member 13							177.0	164.0	169.0					11																	55541087		2200	4296	6496	SO:0001819	synonymous_variant	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541087T>C	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.174T>C	11.37:g.55541087T>C							p.H58H	NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN			1	174	+		all_epithelial(135;0.196)	58					Q6IF68|Q6IFC9	Silent	SNP	ENST00000361760.1	37	c.174T>C	CCDS31507.1																																																																																				0.403	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		5	92	5	92	---	---	---	---
SYT7	9066	broad.mit.edu	37	11	61323611	61323611	+	Missense_Mutation	SNP	G	G	C	rs144496851		TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr11:61323611G>C	ENST00000263846.4	-	2	427	c.100C>G	c.(100-102)Ctc>Gtc	p.L34V	SYT7_ENST00000539008.1_Missense_Mutation_p.L34V|SYT7_ENST00000542670.1_Missense_Mutation_p.L34V|SYT7_ENST00000542836.1_Missense_Mutation_p.L34V|SYT7_ENST00000535826.1_Missense_Mutation_p.L34V|SYT7_ENST00000540677.1_Missense_Mutation_p.L34V	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	34					exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGGCCGCAGAGGACGACAGTG	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		18589	0.0		0.001	False		,,,				2504	0.0					ENST00000263846.4																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(100-102)Ctc>Gtc		synaptotagmin VII		G	VAL/LEU	0,4404		0,0,2202	66.0	53.0	57.0		100	4.1	1.0	11	dbSNP_134	57	1,8597	1.2+/-3.3	0,1,4298	no	missense	SYT7	NM_004200.2	32	0,1,6500	CC,CG,GG		0.0116,0.0,0.0077	benign	34/404	61323611	1,13001	2202	4299	6501	SO:0001583	missense	9066					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr11:61323611G>C	AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"""Synaptotagmins"""	11514	protein-coding gene	gene with protein product		604146	"""prostate cancer associated protein 7"""	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.100C>G	11.37:g.61323611G>C	ENSP00000263846:p.Leu34Val					SYT7_ENST00000542836.1_Missense_Mutation_p.L34V|SYT7_ENST00000540677.1_Missense_Mutation_p.L34V|SYT7_ENST00000542670.1_Missense_Mutation_p.L34V|SYT7_ENST00000539008.1_Missense_Mutation_p.L34V|SYT7_ENST00000535826.1_Missense_Mutation_p.L34V	p.L34V	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN			2	427	-			34					F5GZU9|Q08AH6	Missense_Mutation	SNP	ENST00000263846.4	37	c.100C>G	CCDS31577.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	20.9	4.060127	0.76074	0.0	1.16E-4	ENSG00000011347	ENST00000263846;ENST00000540677;ENST00000539008;ENST00000542836;ENST00000542670;ENST00000535826;ENST00000545053	T;T;T;T;T;T;T	0.71222	-0.28;-0.55;-0.11;-0.24;-0.34;-0.33;1.05	4.98	4.06	0.47325	.	0.425981	0.21371	N	0.075621	T	0.51534	0.1680	N	0.24115	0.695	0.32985	D	0.524181	B;B	0.15473	0.006;0.013	B;B	0.11329	0.006;0.003	T	0.50320	-0.8842	10	0.02654	T	1	.	12.5931	0.56453	0.0:0.0:0.6985:0.3015	.	34;34	F5GZU9;O43581	.;SYT7_HUMAN	V	34	ENSP00000263846:L34V;ENSP00000444201:L34V;ENSP00000439694:L34V;ENSP00000444568:L34V;ENSP00000444019:L34V;ENSP00000437720:L34V;ENSP00000443576:L34V	ENSP00000263846:L34V	L	-	1	0	SYT7	61080187	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.307000	0.59123	1.201000	0.43203	0.591000	0.81541	CTC		0.662	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398733.1	NM_004200		13	23	13	23	---	---	---	---
PPFIBP1	8496	broad.mit.edu	37	12	27835611	27835611	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr12:27835611G>T	ENST00000318304.8	+	23	2523	c.2240G>T	c.(2239-2241)gGt>gTt	p.G747V	PPFIBP1_ENST00000228425.6_Missense_Mutation_p.G741V|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.G716V|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.G594V	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	747	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					CGGGTTGATGGTCGAATGCTA	0.448																																						ENST00000318304.8																		PPFIBP1/ALK(3)	0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32						c.(2239-2241)gGt>gTt		PTPRF interacting protein, binding protein 1 (liprin beta 1)							165.0	158.0	160.0					12																	27835611		2203	4300	6503	SO:0001583	missense	8496				cell adhesion	plasma membrane	protein binding	g.chr12:27835611G>T	AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.2240G>T	12.37:g.27835611G>T	ENSP00000314724:p.Gly747Val					PPFIBP1_ENST00000542629.1_Missense_Mutation_p.G716V|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.G594V|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.G741V	p.G747V	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN			23	2523	+	Lung SC(9;0.0873)		747			SAM 2.		O75336|Q86X70|Q9NY03|Q9ULJ0	Missense_Mutation	SNP	ENST00000318304.8	37	c.2240G>T	CCDS55812.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.5|25.5	4.641112|4.641112	0.87859|0.87859	.|.	.|.	ENSG00000110841|ENSG00000110841	ENST00000540114;ENST00000537927;ENST00000318304;ENST00000542629;ENST00000228425|ENST00000539326	T;T;T;T;T|.	0.56611|.	0.45;0.45;0.45;0.45;0.45|.	5.26|5.26	5.26|5.26	0.73747|0.73747	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);|.	0.000000|.	0.34802|.	U|.	0.003663|.	D|D	0.84347|0.84347	0.5452|0.5452	M|M	0.89214|0.89214	3.015|3.015	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.97110|.	1.0;1.0;1.0;0.999;1.0|.	D|D	0.86972|0.86972	0.2098|0.2098	10|5	0.87932|.	D|.	0|.	-19.2059|-19.2059	18.4819|18.4819	0.90815|0.90815	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	594;578;747;741;716|.	Q86W92-3;F5GZP6;Q86W92;Q86W92-2;Q86W92-4|.	.;.;LIPB1_HUMAN;.;.|.	V|F	578;594;747;716;741|19	ENSP00000444304:G578V;ENSP00000445425:G594V;ENSP00000314724:G747V;ENSP00000443442:G716V;ENSP00000228425:G741V|.	ENSP00000228425:G741V|.	G|V	+|+	2|1	0|0	PPFIBP1|PPFIBP1	27726878|27726878	1.000000|1.000000	0.71417|0.71417	0.935000|0.935000	0.37517|0.37517	0.780000|0.780000	0.44128|0.44128	9.690000|9.690000	0.98676|0.98676	2.450000|2.450000	0.82876|0.82876	0.655000|0.655000	0.94253|0.94253	GGT|GTC		0.448	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622		35	77	35	77	---	---	---	---
SYT10	341359	broad.mit.edu	37	12	33579131	33579131	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr12:33579131G>A	ENST00000228567.3	-	2	747	c.451C>T	c.(451-453)Cat>Tat	p.H151Y	SYT10_ENST00000567656.1_5'Flank|SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	151					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TTAATTAAATGTTCTTTTAAA	0.403																																						ENST00000228567.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42						c.(451-453)Cat>Tat		synaptotagmin X							187.0	195.0	193.0					12																	33579131		2203	4300	6503	SO:0001583	missense	341359					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr12:33579131G>A	AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.451C>T	12.37:g.33579131G>A	ENSP00000228567:p.His151Tyr					SYT10_ENST00000535526.1_5'UTR	p.H151Y	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN			2	747	-	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)		151					Q495U2	Missense_Mutation	SNP	ENST00000228567.3	37	c.451C>T	CCDS8732.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557566	0.65425	.	.	ENSG00000110975	ENST00000228567	T	0.49432	0.78	3.78	3.78	0.43462	.	0.000000	0.42821	U	0.000655	T	0.45975	0.1369	L	0.54323	1.7	0.80722	D	1	P	0.47106	0.89	B	0.41917	0.37	T	0.55909	-0.8066	10	0.56958	D	0.05	.	15.8987	0.79356	0.0:0.0:1.0:0.0	.	151	Q6XYQ8	SYT10_HUMAN	Y	151	ENSP00000228567:H151Y	ENSP00000228567:H151Y	H	-	1	0	SYT10	33470398	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	5.246000	0.65411	2.390000	0.81377	0.655000	0.94253	CAT		0.403	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992		64	68	64	68	---	---	---	---
WIF1	11197	broad.mit.edu	37	12	65461496	65461496	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr12:65461496G>T	ENST00000286574.4	-	5	987	c.613C>A	c.(613-615)Cac>Aac	p.H205N		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	205	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		TGAGGTCCGTGGAACCCATCA	0.507			T	HMGA2	pleomorphic salivary gland adenoma																																Esophageal Squamous(148;1595 1816 48559 49439 49664)	ENST00000286574.4				Dom	yes		12	12q14.3	11197	T	WNT inhibitory factor 1			E	HMGA2		pleomorphic salivary gland adenoma		0				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21						c.(613-615)Cac>Aac		WNT inhibitory factor 1							103.0	88.0	93.0					12																	65461496		2203	4300	6503	SO:0001583	missense	11197				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity	g.chr12:65461496G>T	AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.613C>A	12.37:g.65461496G>T	ENSP00000286574:p.His205Asn						p.H205N	NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)	5	987	-			205			EGF-like 1.		Q6UXI1|Q8WVG4	Missense_Mutation	SNP	ENST00000286574.4	37	c.613C>A	CCDS8971.1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.509483	0.27036	.	.	ENSG00000156076	ENST00000286574	T	0.41065	1.01	5.64	3.14	0.36123	EGF, extracellular (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.196582	0.45126	D	0.000393	T	0.19525	0.0469	N	0.04768	-0.165	0.23624	N	0.99727	B	0.10296	0.003	B	0.12156	0.007	T	0.20840	-1.0263	9	.	.	.	.	9.2352	0.37461	0.8443:0.0:0.1557:0.0	.	205	Q9Y5W5	WIF1_HUMAN	N	205	ENSP00000286574:H205N	.	H	-	1	0	WIF1	63747763	1.000000	0.71417	0.853000	0.33588	0.336000	0.28762	4.502000	0.60400	0.495000	0.27882	-0.290000	0.09829	CAC		0.507	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401258.2			5	23	5	23	---	---	---	---
FAM216A	29902	broad.mit.edu	37	12	110924408	110924408	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr12:110924408C>T	ENST00000377673.5	+	5	1018	c.506C>T	c.(505-507)aCa>aTa	p.T169I		NM_013300.2	NP_037432.2	Q8WUB2	F216A_HUMAN	family with sequence similarity 216, member A	169																	CCTTGCACTACATGGCGACAT	0.507																																						ENST00000377673.5																			0											c.(505-507)aCa>aTa		family with sequence similarity 216, member A							160.0	164.0	163.0					12																	110924408		2203	4300	6503	SO:0001583	missense	29902							g.chr12:110924408C>T	U79274	CCDS31899.1	12q24.11	2012-02-07	2012-02-07	2012-02-07	ENSG00000204856	ENSG00000204856			30180	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 24"""	C12orf24			Standard	NM_013300		Approved	HSU79274	uc001tqu.4	Q8WUB2	OTTHUMG00000169526	ENST00000377673.5:c.506C>T	12.37:g.110924408C>T	ENSP00000366901:p.Thr169Ile						p.T169I	NM_013300.2	NP_037432.2	Q8WUB2	CL024_HUMAN			5	1018	+			169					A6NH30|Q99776	Missense_Mutation	SNP	ENST00000377673.5	37	c.506C>T	CCDS31899.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745425	0.69418	.	.	ENSG00000204856	ENST00000377673;ENST00000538285;ENST00000548869	T	0.53423	0.62	3.9	3.9	0.45041	.	0.194901	0.25523	N	0.030095	T	0.59783	0.2219	L	0.54323	1.7	0.80722	D	1	D;D;D	0.67145	0.979;0.996;0.992	P;D;P	0.66351	0.801;0.943;0.876	T	0.62817	-0.6774	10	0.72032	D	0.01	-7.1908	11.5931	0.50957	0.0:1.0:0.0:0.0	.	169;169;169	B4DJX7;F5GZE4;Q8WUB2	.;.;CL024_HUMAN	I	169;169;75	ENSP00000366901:T169I	ENSP00000366901:T169I	T	+	2	0	C12orf24	109408791	0.988000	0.35896	0.977000	0.42913	0.852000	0.48524	1.295000	0.33377	2.167000	0.68274	0.467000	0.42956	ACA		0.507	FAM216A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404616.1	NM_013300		66	93	66	93	---	---	---	---
TUBA3C	7278	broad.mit.edu	37	13	19748102	19748102	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr13:19748102G>T	ENST00000400113.3	-	5	1358	c.1254C>A	c.(1252-1254)ttC>ttA	p.F418L		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	418					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GGGCCTCAGAGAACTCCCCCT	0.587																																						ENST00000400113.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72						c.(1252-1254)ttC>ttA		tubulin, alpha 3c							144.0	140.0	141.0					13																	19748102		2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19748102G>T	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.1254C>A	13.37:g.19748102G>T	ENSP00000382982:p.Phe418Leu						p.F418L	NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	5	1358	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	418					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.1254C>A	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	g	12.28	1.890675	0.33348	.	.	ENSG00000198033	ENST00000400113	D	0.86694	-2.16	1.22	1.22	0.21188	.	0.000000	0.49916	U	0.000124	D	0.88676	0.6501	.	.	.	0.44627	D	0.9976	.	.	.	.	.	.	D	0.87827	0.2642	7	0.87932	D	0	.	8.3643	0.32378	0.0:0.0:1.0:0.0	.	.	.	.	L	418	ENSP00000382982:F418L	ENSP00000382982:F418L	F	-	3	2	TUBA3C	18646102	1.000000	0.71417	0.992000	0.48379	0.415000	0.31203	4.209000	0.58493	0.982000	0.38575	0.194000	0.17425	TTC		0.587	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		16	211	16	211	---	---	---	---
PIBF1	10464	broad.mit.edu	37	13	73396007	73396007	+	Silent	SNP	A	A	G			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr13:73396007A>G	ENST00000326291.6	+	6	1031	c.693A>G	c.(691-693)aaA>aaG	p.K231K		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	231						centrosome (GO:0005813)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		AAGATCGAAAAAACTACTCTG	0.348																																						ENST00000326291.6																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(691-693)aaA>aaG		progesterone immunomodulatory binding factor 1							73.0	68.0	70.0					13																	73396007		2203	4300	6503	SO:0001819	synonymous_variant	10464					centrosome		g.chr13:73396007A>G	AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"""progesterone-induced blocking factor 1"""	607532	"""chromosome 13 open reading frame 24"""	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.693A>G	13.37:g.73396007A>G							p.K231K	NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN		GBM - Glioblastoma multiforme(99;0.000664)	6	1031	+		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)	231					O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Silent	SNP	ENST00000326291.6	37	c.693A>G	CCDS31991.1																																																																																				0.348	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045255.1	NM_006346		11	7	11	7	---	---	---	---
DACT1	51339	broad.mit.edu	37	14	59112126	59112126	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr14:59112126A>T	ENST00000335867.4	+	4	809	c.785A>T	c.(784-786)aAc>aTc	p.N262I	DACT1_ENST00000555845.1_3'UTR|DACT1_ENST00000395153.3_Missense_Mutation_p.N225I|DACT1_ENST00000541264.2_De_novo_Start_OutOfFrame|DACT1_ENST00000556859.1_De_novo_Start_OutOfFrame			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	262					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GTGTCTAAAAACGGGAATGAT	0.493																																						ENST00000541264.2																			0				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53								dishevelled-binding antagonist of beta-catenin 1							173.0	158.0	163.0					14																	59112126		2203	4300	6503	SO:0001583	missense	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59112126A>T	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.785A>T	14.37:g.59112126A>T	ENSP00000337439:p.Asn262Ile					DACT1_ENST00000555845.1_3'UTR|DACT1_ENST00000556859.1_De_novo_Start_OutOfFrame|DACT1_ENST00000335867.4_Missense_Mutation_p.N262I|DACT1_ENST00000395153.3_Missense_Mutation_p.N225I				Q9NYF0	DACT1_HUMAN			0	755	+								A8MYJ2|Q86TY0	Translation_Start_Site	SNP	ENST00000335867.4	37		CCDS9736.1	.	.	.	.	.	.	.	.	.	.	A	17.65	3.443273	0.63067	.	.	ENSG00000165617	ENST00000395153;ENST00000335867	T;T	0.51817	0.69;0.69	5.71	5.71	0.89125	.	0.047075	0.85682	D	0.000000	T	0.69405	0.3107	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.73375	-0.4002	10	0.87932	D	0	-29.5528	15.979	0.80091	1.0:0.0:0.0:0.0	.	225;262	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	I	225;262	ENSP00000378582:N225I;ENSP00000337439:N262I	ENSP00000337439:N262I	N	+	2	0	DACT1	58181879	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.732000	0.68563	2.182000	0.69389	0.460000	0.39030	AAC		0.493	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		9	66	9	66	---	---	---	---
MTA1	9112	broad.mit.edu	37	14	105936451	105936451	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr14:105936451C>T	ENST00000331320.7	+	21	2261	c.2047C>T	c.(2047-2049)Cgg>Tgg	p.R683W	MTA1_ENST00000405646.1_Missense_Mutation_p.R666W|RP11-521B24.5_ENST00000552675.1_RNA|CRIP2_ENST00000483017.3_5'Flank|MTA1_ENST00000435036.2_Missense_Mutation_p.R223W|MTA1_ENST00000406191.1_Missense_Mutation_p.R671W	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	683					circadian regulation of gene expression (GO:0032922)|double-strand break repair (GO:0006302)|entrainment of circadian clock by photoperiod (GO:0043153)|locomotor rhythm (GO:0045475)|positive regulation of protein autoubiquitination (GO:1902499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression, epigenetic (GO:0040029)|regulation of inflammatory response (GO:0050727)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		TGCTGCCCGCCGGCCCTACAA	0.701																																						ENST00000331320.7																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14						c.(2047-2049)Cgg>Tgg		metastasis associated 1							50.0	41.0	44.0					14																	105936451		2198	4294	6492	SO:0001583	missense	9112				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:105936451C>T	U35113	CCDS32169.1, CCDS55954.1	14q32.33	2013-01-25			ENSG00000182979	ENSG00000182979		"""GATA zinc finger domain containing"""	7410	protein-coding gene	gene with protein product		603526				8083195, 7607577	Standard	NM_004689		Approved		uc001yqx.3	Q13330	OTTHUMG00000150362	ENST00000331320.7:c.2047C>T	14.37:g.105936451C>T	ENSP00000333633:p.Arg683Trp					MTA1_ENST00000435036.2_Missense_Mutation_p.R223W|RP11-521B24.5_ENST00000552675.1_RNA|MTA1_ENST00000406191.1_Missense_Mutation_p.R671W|MTA1_ENST00000405646.1_Missense_Mutation_p.R666W	p.R683W	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)	21	2261	+		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	683					A5PLK4|Q86SW2|Q8NFI8|Q96GI8	Missense_Mutation	SNP	ENST00000331320.7	37	c.2047C>T	CCDS32169.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.3|21.3	4.130440|4.130440	0.77549|0.77549	.|.	.|.	ENSG00000182979|ENSG00000182979	ENST00000494981|ENST00000414153;ENST00000331320;ENST00000406191;ENST00000405646;ENST00000434050;ENST00000435036;ENST00000426567	.|T;T;T;T;T;T	.|0.53206	.|1.29;1.37;1.29;1.27;0.67;0.63	4.73|4.73	1.77|1.77	0.24775|0.24775	.|.	.|0.143809	.|0.48286	.|D	.|0.000193	T|T	0.55721|0.55721	0.1938|0.1938	L|L	0.39898|0.39898	1.24|1.24	0.49798|0.49798	D|D	0.999824|0.999824	.|D;D	.|0.89917	.|0.999;1.0	.|P;D	.|0.65684	.|0.842;0.937	T|T	0.55786|0.55786	-0.8086|-0.8086	5|10	.|0.87932	.|D	.|0	-26.4545|-26.4545	12.9875|12.9875	0.58599|0.58599	0.3196:0.6804:0.0:0.0|0.3196:0.6804:0.0:0.0	.|.	.|479;683	.|Q59FW1;Q13330	.|.;MTA1_HUMAN	L|W	109|596;683;671;666;479;223;95	.|ENSP00000333633:R683W;ENSP00000385702:R671W;ENSP00000384180:R666W;ENSP00000394106:R479W;ENSP00000389425:R223W;ENSP00000395371:R95W	.|ENSP00000333633:R683W	P|R	+|+	2|1	0|2	MTA1|MTA1	105007496|105007496	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	1.414000|1.414000	0.34736|0.34736	0.061000|0.061000	0.16311|0.16311	0.491000|0.491000	0.48974|0.48974	CCG|CGG		0.701	MTA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317849.15			5	106	5	106	---	---	---	---
SLC24A5	283652	broad.mit.edu	37	15	48431347	48431347	+	Silent	SNP	C	C	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr15:48431347C>A	ENST00000341459.3	+	7	1126	c.1053C>A	c.(1051-1053)atC>atA	p.I351I	SLC24A5_ENST00000449382.2_Silent_p.I291I	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	351					ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|negative regulation of melanin biosynthetic process (GO:0048022)|response to stimulus (GO:0050896)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		TTACATATATCCTGGTTTGGA	0.303																																						ENST00000341459.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1051-1053)atC>atA		solute carrier family 24 (sodium/potassium/calcium exchanger), member 5							102.0	101.0	102.0					15																	48431347		2197	4290	6487	SO:0001819	synonymous_variant	283652				response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr15:48431347C>A	AF348468	CCDS10128.1	15q21.1	2014-01-28	2013-07-18		ENSG00000188467	ENSG00000188467		"""Solute carriers"""	20611	protein-coding gene	gene with protein product	"""oculocutaneous albinism 6 (autosomal recessive)"""	609802	"""solute carrier family 24, member 5"""			23364476	Standard	XM_005254308		Approved	JSX, OCA6	uc001zwe.3	Q71RS6	OTTHUMG00000131494	ENST00000341459.3:c.1053C>A	15.37:g.48431347C>A						SLC24A5_ENST00000449382.2_Silent_p.I291I	p.I351I	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)	7	1126	+		all_lung(180;0.00217)	351					A5X8Z8|A5X8Z9|Q14CT4|Q6DKH3	Silent	SNP	ENST00000341459.3	37	c.1053C>A	CCDS10128.1																																																																																				0.303	SLC24A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254340.2	NM_205850		17	13	17	13	---	---	---	---
ITGAM	3684	broad.mit.edu	37	16	31277424	31277424	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr16:31277424C>T	ENST00000287497.8	+	5	458	c.383C>T	c.(382-384)tCc>tTc	p.S128F	RNU7-199P_ENST00000517067.1_RNA|ITGAM_ENST00000544665.3_Missense_Mutation_p.S128F			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	128					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CTGTTTGGATCCAACCTACGG	0.612																																						ENST00000544665.3																			0				endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						c.(382-384)tCc>tTc		integrin, alpha M (complement component 3 receptor 3 subunit)							65.0	67.0	66.0					16																	31277424		1995	4165	6160	SO:0001583	missense	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31277424C>T	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.383C>T	16.37:g.31277424C>T	ENSP00000287497:p.Ser128Phe					ITGAM_ENST00000287497.8_Missense_Mutation_p.S128F	p.S128F	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN			5	454	+			128					Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	c.383C>T	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.213765	0.39102	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.62232	0.04;0.04	5.33	5.33	0.75918	.	.	.	.	.	T	0.68439	0.3001	M	0.87269	2.87	0.09310	N	0.999998	B;B	0.31227	0.314;0.314	B;B	0.33196	0.159;0.159	T	0.66044	-0.6021	9	0.66056	D	0.02	.	11.7109	0.51625	0.1762:0.8238:0.0:0.0	.	128;128	Q4VAK1;P11215	.;ITAM_HUMAN	F	128	ENSP00000441691:S128F;ENSP00000287497:S128F	ENSP00000287497:S128F	S	+	2	0	ITGAM	31184925	0.841000	0.29509	0.620000	0.29132	0.675000	0.39556	4.271000	0.58902	2.506000	0.84524	0.644000	0.83932	TCC		0.612	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		17	46	17	46	---	---	---	---
SLC7A5	8140	broad.mit.edu	37	16	87872329	87872329	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr16:87872329G>A	ENST00000261622.4	-	6	1099	c.1034C>T	c.(1033-1035)aCa>aTa	p.T345I	SLC7A5_ENST00000565644.1_Missense_Mutation_p.T79I|RP4-536B24.2_ENST00000563687.1_RNA	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	345					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)	Dextrothyroxine(DB00509)|L-DOPA(DB01235)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Melphalan(DB01042)	CCTGGAGGATGTGAACAGGGA	0.587																																						ENST00000261622.4																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10						c.(1033-1035)aCa>aTa		solute carrier family 7 (amino acid transporter light chain, L system), member 5							157.0	131.0	140.0					16																	87872329		2198	4300	6498	SO:0001583	missense	8140				blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr16:87872329G>A	AF077866	CCDS10964.1	16q24.3	2013-05-22	2011-07-12		ENSG00000103257	ENSG00000103257		"""CD molecules"", ""Solute carriers"""	11063	protein-coding gene	gene with protein product		600182				9751058, 7829099	Standard	XM_006721286		Approved	LAT1, E16, D16S469E, MPE16, CD98	uc002fkm.3	Q01650	OTTHUMG00000137658	ENST00000261622.4:c.1034C>T	16.37:g.87872329G>A	ENSP00000261622:p.Thr345Ile					SLC7A5_ENST00000565644.1_Missense_Mutation_p.T79I	p.T345I	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.049)	6	1099	-			345					Q8IV97|Q9UBN8|Q9UP15|Q9UQC0	Missense_Mutation	SNP	ENST00000261622.4	37	c.1034C>T	CCDS10964.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.857987	0.71834	.	.	ENSG00000103257	ENST00000261622	D	0.89681	-2.55	4.49	4.49	0.54785	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.96150	0.8745	H	0.95574	3.69	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97598	1.0121	10	0.87932	D	0	.	16.5311	0.84359	0.0:0.0:1.0:0.0	.	345	Q01650	LAT1_HUMAN	I	345	ENSP00000261622:T345I	ENSP00000261622:T345I	T	-	2	0	SLC7A5	86429830	1.000000	0.71417	0.991000	0.47740	0.486000	0.33341	9.362000	0.97126	2.215000	0.71742	0.462000	0.41574	ACA		0.587	SLC7A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269110.2	NM_003486		19	64	19	64	---	---	---	---
KRT16	3868	broad.mit.edu	37	17	39767667	39767667	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr17:39767667C>G	ENST00000301653.4	-	3	765	c.701G>C	c.(700-702)aGg>aCg	p.R234T		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	234	Coil 1B.|Rod.				aging (GO:0007568)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|epidermis development (GO:0008544)|hair cycle (GO:0042633)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of cell migration (GO:0030336)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				CAGGTCAGTCCTGGCCAGGGT	0.632																																						ENST00000301653.4																			0				NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(700-702)aGg>aCg		keratin 16							74.0	72.0	73.0					17																	39767667		2203	4300	6503	SO:0001583	missense	3868				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39767667C>G	S79867	CCDS11401.1	17q21.2	2013-01-16	2008-08-01		ENSG00000186832	ENSG00000186832		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6423	protein-coding gene	gene with protein product	"""focal non-epidermolytic palmoplantar keratoderma"""	148067				2451124, 16831889	Standard	NM_005557		Approved	NEPPK	uc002hxg.4	P08779	OTTHUMG00000133495	ENST00000301653.4:c.701G>C	17.37:g.39767667C>G	ENSP00000301653:p.Arg234Thr						p.R234T	NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN			3	765	-		Breast(137;0.000307)	234			Coil 1B.|Rod.		A8K488|P30654|Q16402|Q9UBG8	Missense_Mutation	SNP	ENST00000301653.4	37	c.701G>C	CCDS11401.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019393	0.75275	.	.	ENSG00000186832	ENST00000301653	D	0.91577	-2.87	4.63	4.63	0.57726	Filament (1);	0.000000	0.56097	D	0.000036	D	0.95004	0.8383	M	0.84326	2.69	0.44282	D	0.997147	D	0.57257	0.979	D	0.72625	0.978	D	0.95067	0.8201	10	0.62326	D	0.03	.	13.4925	0.61405	0.0:0.9218:0.0:0.0782	.	234	P08779	K1C16_HUMAN	T	234	ENSP00000301653:R234T	ENSP00000301653:R234T	R	-	2	0	KRT16	37021193	0.934000	0.31675	0.933000	0.37362	0.964000	0.63967	2.043000	0.41231	2.556000	0.86216	0.561000	0.74099	AGG		0.632	KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257408.1	NM_005557		44	68	44	68	---	---	---	---
SPOP	8405	broad.mit.edu	37	17	47696425	47696425	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr17:47696425A>C	ENST00000393328.2	-	6	763	c.398T>G	c.(397-399)tTc>tGc	p.F133C	SPOP_ENST00000347630.2_Missense_Mutation_p.F133C|SPOP_ENST00000503676.1_Missense_Mutation_p.F133C|SPOP_ENST00000393331.3_Missense_Mutation_p.F133C|SPOP_ENST00000504102.1_Missense_Mutation_p.F133C|SPOP_ENST00000513080.1_5'Flank	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F133C(3)|p.F133S(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GAATTTCTTGAATCCCCAGTC	0.448										Prostate(2;0.17)																												ENST00000393331.3																			5	Substitution - Missense(5)	p.F133C(3)|p.F133S(2)	prostate(5)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(397-399)tTc>tGc		speckle-type POZ protein							119.0	120.0	120.0					17																	47696425		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696425A>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.398T>G	17.37:g.47696425A>C	ENSP00000377001:p.Phe133Cys	Prostate(2;0.17)				SPOP_ENST00000503676.1_Missense_Mutation_p.F133C|SPOP_ENST00000347630.2_Missense_Mutation_p.F133C|SPOP_ENST00000504102.1_Missense_Mutation_p.F133C|SPOP_ENST00000393328.2_Missense_Mutation_p.F133C	p.F133C	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	868	-			133			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.398T>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.055575	0.75960	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.64789	0.2630	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.67321	-0.5700	10	0.54805	T	0.06	-9.6576	15.258	0.73599	1.0:0.0:0.0:0.0	.	133	O43791	SPOP_HUMAN	C	133;133;133;133;17;133;86;133;133;133;133	ENSP00000377001:F133C;ENSP00000377004:F133C;ENSP00000240327:F133C;ENSP00000425905:F133C;ENSP00000420908:F133C;ENSP00000426986:F133C;ENSP00000420960:F133C;ENSP00000426262:F133C;ENSP00000424119:F133C	ENSP00000240327:F133C	F	-	2	0	SPOP	45051424	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.131000	0.94446	2.261000	0.74972	0.460000	0.39030	TTC		0.448	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		48	84	48	84	---	---	---	---
KIF19	124602	broad.mit.edu	37	17	72340364	72340364	+	Silent	SNP	C	C	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr17:72340364C>A	ENST00000389916.4	+	6	597	c.459C>A	c.(457-459)atC>atA	p.I153I		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	153	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CCCGTCAGATCTACAATGAGA	0.627																																						ENST00000389916.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(457-459)atC>atA		kinesin family member 19							44.0	44.0	44.0					17																	72340364		2203	4300	6503	SO:0001819	synonymous_variant	124602				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr17:72340364C>A	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.459C>A	17.37:g.72340364C>A							p.I153I	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN			6	597	+			153			Kinesin-motor.		A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Silent	SNP	ENST00000389916.4	37	c.459C>A	CCDS32718.2																																																																																				0.627	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		32	39	32	39	---	---	---	---
KDSR	2531	broad.mit.edu	37	18	61030014	61030014	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr18:61030014C>T	ENST00000406396.3	-	2	587	c.196G>A	c.(196-198)Gag>Aag	p.E66K	KDSR_ENST00000326575.5_Missense_Mutation_p.E66K	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN	3-ketodihydrosphingosine reductase	66					3-keto-sphinganine metabolic process (GO:0006666)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-dehydrosphinganine reductase activity (GO:0047560)			endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						AGCCTTACCTCATTTCGTGCA	0.413																																						ENST00000406396.3																			0				endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						c.(196-198)Gag>Aag		3-ketodihydrosphingosine reductase							99.0	92.0	94.0					18																	61030014		2203	4300	6503	SO:0001583	missense	2531				3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding	g.chr18:61030014C>T		CCDS11982.1	18q21	2011-09-20	2008-02-20	2008-02-20	ENSG00000119537	ENSG00000119537	1.1.1.102	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	4021	protein-coding gene	gene with protein product	"""3-dehydrosphinganine reductase"", ""short chain dehydrogenase/reductase family 35C, member 1"""	136440	"""follicular lymphoma variant translocation 1"""	FVT1		8417785, 15328338, 17420465, 19027726	Standard	NM_002035		Approved	DHSR, SDR35C1	uc010dpw.3	Q06136	OTTHUMG00000132792	ENST00000406396.3:c.196G>A	18.37:g.61030014C>T	ENSP00000385083:p.Glu66Lys					KDSR_ENST00000326575.5_Missense_Mutation_p.E66K	p.E66K	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN			2	587	-			66					B2R5Y1|B4DMX0	Missense_Mutation	SNP	ENST00000406396.3	37	c.196G>A	CCDS11982.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539948	0.85917	.	.	ENSG00000119537	ENST00000406396;ENST00000326575	D;D	0.87966	-2.32;-2.32	5.87	5.87	0.94306	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.88764	0.6525	N	0.20574	0.59	0.80722	D	1	D;B	0.76494	0.999;0.167	D;B	0.81914	0.995;0.074	D	0.85116	0.0966	10	0.20046	T	0.44	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	66;66	B4DMX0;Q06136	.;KDSR_HUMAN	K	66	ENSP00000385083:E66K;ENSP00000312939:E66K	ENSP00000312939:E66K	E	-	1	0	KDSR	59180994	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.308000	0.78929	2.941000	0.99782	0.655000	0.94253	GAG		0.413	KDSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256200.2			18	24	18	24	---	---	---	---
CAPN12	147968	broad.mit.edu	37	19	39233710	39233710	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr19:39233710T>A	ENST00000328867.4	-	2	578	c.270A>T	c.(268-270)gaA>gaT	p.E90D	CAPN12_ENST00000601953.1_Intron	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	90	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GGCTCATGTCTTCACAGATGA	0.572																																						ENST00000328867.4																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(268-270)gaA>gaT		calpain 12							88.0	76.0	80.0					19																	39233710		2203	4300	6503	SO:0001583	missense	147968				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr19:39233710T>A	BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"""EF-hand domain containing"""	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.270A>T	19.37:g.39233710T>A	ENSP00000331636:p.Glu90Asp					CAPN12_ENST00000601953.1_Intron	p.E90D	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)		2	578	-	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		90			Calpain catalytic.			Missense_Mutation	SNP	ENST00000328867.4	37	c.270A>T	CCDS12519.1	.	.	.	.	.	.	.	.	.	.	t	4.929	0.172693	0.09391	.	.	ENSG00000182472	ENST00000328867	T	0.14516	2.5	4.97	-1.82	0.07857	Peptidase C2, calpain, catalytic domain (3);	0.123876	0.53938	D	0.000055	T	0.12987	0.0315	N	0.17674	0.51	0.30488	N	0.77166	D	0.64830	0.994	P	0.62298	0.9	T	0.21552	-1.0242	10	0.16420	T	0.52	.	7.7432	0.28853	0.135:0.6369:0.0:0.2281	.	90	Q6ZSI9	CAN12_HUMAN	D	90	ENSP00000331636:E90D	ENSP00000331636:E90D	E	-	3	2	CAPN12	43925550	0.082000	0.21442	0.996000	0.52242	0.471000	0.32888	-0.979000	0.03774	-0.249000	0.09569	-0.473000	0.04963	GAA		0.572	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462151.1			9	68	9	68	---	---	---	---
ARFGEF2	10564	broad.mit.edu	37	20	47588909	47588909	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr20:47588909G>T	ENST00000371917.4	+	11	1472	c.1472G>T	c.(1471-1473)aGt>aTt	p.S491I		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	491					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			ACATCAACAAGTTCTTTTGAG	0.413																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	ENST00000371917.4																			0				breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63						c.(1471-1473)aGt>aTt		ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)							100.0	98.0	99.0					20																	47588909		2203	4300	6503	SO:0001583	missense	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47588909G>T	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.1472G>T	20.37:g.47588909G>T	ENSP00000360985:p.Ser491Ile						p.S491I	NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		11	1472	+			491					Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	c.1472G>T	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	G	32	5.116163	0.94339	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	T	0.67865	-0.29	5.91	5.91	0.95273	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86272	0.5893	M	0.90198	3.095	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87929	0.2709	10	0.87932	D	0	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	491	Q9Y6D5	BIG2_HUMAN	I	491	ENSP00000360985:S491I	ENSP00000360985:S491I	S	+	2	0	ARFGEF2	47022316	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.793000	0.96121	0.655000	0.94253	AGT		0.413	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		12	22	12	22	---	---	---	---
RSPH14	27156	broad.mit.edu	37	22	23401783	23401783	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr22:23401783C>A	ENST00000216036.4	-	7	1100	c.904G>T	c.(904-906)Gcc>Tcc	p.A302S		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		302										breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		CCCTCGGGGGCCTCTGCCAGC	0.642																																						ENST00000216036.4																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18						c.(904-906)Gcc>Tcc		rhabdoid tumor deletion region gene 1							79.0	80.0	80.0					22																	23401783		2203	4300	6503	SO:0001583	missense	27156						binding	g.chr22:23401783C>A																												ENST00000216036.4:c.904G>T	22.37:g.23401783C>A	ENSP00000216036:p.Ala302Ser						p.A302S	NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		READ - Rectum adenocarcinoma(21;0.175)	7	1100	-	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		302						Missense_Mutation	SNP	ENST00000216036.4	37	c.904G>T	CCDS13803.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.345288	0.61073	.	.	ENSG00000100218	ENST00000216036	T	0.47528	0.84	5.08	4.06	0.47325	Armadillo-like helical (1);Armadillo-type fold (1);	0.735360	0.13496	N	0.383623	T	0.46425	0.1392	L	0.49778	1.585	0.80722	D	1	D	0.54397	0.966	P	0.48738	0.588	T	0.21793	-1.0235	10	0.18276	T	0.48	-22.0375	9.7645	0.40552	0.0:0.9034:0.0:0.0966	.	302	Q9UHP6	RTDR1_HUMAN	S	302	ENSP00000216036:A302S	ENSP00000216036:A302S	A	-	1	0	RTDR1	21731783	1.000000	0.71417	0.985000	0.45067	0.218000	0.24690	1.394000	0.34509	1.286000	0.44565	0.561000	0.74099	GCC		0.642	RTDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319049.1			32	136	32	136	---	---	---	---
MAP7D2	256714	broad.mit.edu	37	X	20060693	20060693	+	Missense_Mutation	SNP	A	A	G	rs140590662	byFrequency	TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chrX:20060693A>G	ENST00000379651.3	-	7	829	c.811T>C	c.(811-813)Ttc>Ctc	p.F271L	MAP7D2_ENST00000543767.1_Missense_Mutation_p.F156L|MAP7D2_ENST00000443379.3_Missense_Mutation_p.F226L|MAP7D2_ENST00000452324.3_Missense_Mutation_p.F219L|MAP7D2_ENST00000379643.5_Missense_Mutation_p.F312L	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	271					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						GGGGACCCGAAGTTCACAACA	0.512													A|||	5	0.0013245	0.0038	0.0	3775	,	,		14959	0.0		0.0	False		,,,				2504	0.0					ENST00000379651.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						c.(811-813)Ttc>Ctc		MAP7 domain containing 2		A	LEU/PHE,LEU/PHE,LEU/PHE,LEU/PHE	16,3819		1,13,1,1618,570	186.0	162.0	170.0		811,655,676,934	1.6	0.0	X	dbSNP_134	170	2,6726		0,2,0,2426,1872	yes	missense,missense,missense,missense	MAP7D2	NM_152780.3,NM_001168467.1,NM_001168466.1,NM_001168465.1	22,22,22,22	1,15,1,4044,2442	GG,GA,G,AA,A		0.0297,0.4172,0.1704	benign,benign,benign,benign	271/733,219/681,226/688,312/774	20060693	18,10545	2203	4300	6503	SO:0001583	missense	256714							g.chrX:20060693A>G	BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.811T>C	X.37:g.20060693A>G	ENSP00000368972:p.Phe271Leu					MAP7D2_ENST00000452324.3_Missense_Mutation_p.F219L|MAP7D2_ENST00000543767.1_Missense_Mutation_p.F156L|MAP7D2_ENST00000379643.5_Missense_Mutation_p.F312L|MAP7D2_ENST00000443379.3_Missense_Mutation_p.F226L	p.F271L	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN			7	829	-			271					B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Missense_Mutation	SNP	ENST00000379651.3	37	c.811T>C	CCDS14195.1	1	6.027727546714888E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	1.659	-0.511992	0.04200	0.004172	2.97E-4	ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000543767;ENST00000443379;ENST00000452324	T;T;T;T;T	0.03553	3.89;3.89;3.89;3.89;3.89	5.43	1.6	0.23607	.	0.915045	0.09342	N	0.815306	T	0.01287	0.0042	N	0.00823	-1.155	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.001;0.001;0.0;0.001	T	0.48647	-0.9017	10	0.25751	T	0.34	0.8419	4.4589	0.11656	0.3738:0.1553:0.4709:0.0	.	226;219;312;271;156	B7Z3S7;C9JYW0;Q96T17-2;Q96T17;F5GYC2	.;.;.;MA7D2_HUMAN;.	L	271;312;156;226;219	ENSP00000368972:F271L;ENSP00000368964:F312L;ENSP00000440691:F156L;ENSP00000388239:F226L;ENSP00000413301:F219L	ENSP00000368964:F312L	F	-	1	0	MAP7D2	19970614	0.005000	0.15991	0.000000	0.03702	0.000000	0.00434	0.244000	0.18124	-0.043000	0.13513	-0.287000	0.09952	TTC		0.512	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	NM_152780		6	132	6	132	---	---	---	---
ADAM28	10863	broad.mit.edu	37	8	24157535	24157558	+	In_Frame_Del	DEL	ATCCTATAAGACTTCATCCACTGC	ATCCTATAAGACTTCATCCACTGC	-	rs369332654|rs375587519		TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr8:24157535_24157558delATCCTATAAGACTTCATCCACTGC	ENST00000265769.4	+	2	205_228	c.95_118delATCCTATAAGACTTCATCCACTGC	c.(94-120)tatcctataagacttcatccactgcat>tat	p.PIRLHPLH33del	ADAM28_ENST00000397649.3_5'UTR|ADAM28_ENST00000540823.1_5'UTR|ADAM28_ENST00000437154.2_In_Frame_Del_p.PIRLHPLH33del|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	33					spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R35I(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GAAGTGGTTTATCCTATAAGACTTCATCCACTGCATAAAAGAGA	0.362																																					NSCLC(193;488 2149 22258 34798 40734)	ENST00000265769.4																			1	Substitution - Missense(1)	p.R35I(1)	large_intestine(1)	central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(94-120)tatcctataagacttcatccactgcat>tat		ADAM metallopeptidase domain 28																																				SO:0001651	inframe_deletion	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24157535_24157558delATCCTATAAGACTTCATCCACTGC	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.95_118delATCCTATAAGACTTCATCCACTGC	8.37:g.24157535_24157558delATCCTATAAGACTTCATCCACTGC	ENSP00000265769:p.Pro33_His40del					ADAM28_ENST00000540823.1_5'UTR|ADAM28_ENST00000397649.3_5'UTR|ADAM28_ENST00000437154.2_In_Frame_Del_p.PIRLHPLH33del|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA	p.PIRLHPLH33del	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	2	205_228	+		Prostate(55;0.0959)	33					B2RMV5|Q9Y339|Q9Y3S0	In_Frame_Del	DEL	ENST00000265769.4	37	c.95_118delATCCTATAAGACTTCATCCACTGC	CCDS34865.1																																																																																				0.362	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		7	53	7	53	---	---	---	---
SACS	26278	broad.mit.edu	37	13	23914964	23914967	+	Frame_Shift_Del	DEL	AAGG	AAGG	-			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr13:23914964_23914967delAAGG	ENST00000382292.3	-	9	3321_3324	c.3048_3051delCCTT	c.(3046-3051)gtccttfs	p.VL1016fs	SACS_ENST00000402364.1_Frame_Shift_Del_p.VL266fs|SACS_ENST00000382298.3_Frame_Shift_Del_p.VL1016fs			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1016					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATAGATTCTCAAGGACCCATAACA	0.343																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(3046-3051)gtccttfs		spastic ataxia of Charlevoix-Saguenay (sacsin)																																				SO:0001589	frameshift_variant	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23914964_23914967delAAGG	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.3048_3051delCCTT	13.37:g.23914964_23914967delAAGG	ENSP00000371729:p.Val1016fs					SACS_ENST00000402364.1_Frame_Shift_Del_p.VL266fs|SACS_ENST00000382292.3_Frame_Shift_Del_p.VL1016fs	p.VL1016fs	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	3636_3639	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1016					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Frame_Shift_Del	DEL	ENST00000382292.3	37	c.3048_3051delCCTT	CCDS9300.2																																																																																				0.343	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		35	73	35	73	---	---	---	---
