#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	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SMARCAD1	56916	broad.mit.edu	37	4	95204449	95204449	+	Missense_Mutation	SNP	G	G	T			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr4:95204449G>T	ENST00000354268.4	+	22	2977	c.2904G>T	c.(2902-2904)caG>caT	p.Q968H	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.Q970H|SMARCAD1_ENST00000509418.1_Missense_Mutation_p.Q538H			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	968	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		GAGTAGGCCAGACTAAGTAAG	0.333																																						ENST00000354268.4																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2902-2904)caG>caT		SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1							101.0	102.0	102.0					4																	95204449		2203	4299	6502	SO:0001583	missense	56916				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	g.chr4:95204449G>T	AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.2904G>T	4.37:g.95204449G>T	ENSP00000346217:p.Gln968His					SMARCAD1_ENST00000457823.2_Missense_Mutation_p.Q970H|SMARCAD1_ENST00000509418.1_Missense_Mutation_p.Q538H	p.Q968H			Q9H4L7	SMRCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)	22	2977	+			968			Helicase C-terminal.		B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Missense_Mutation	SNP	ENST00000354268.4	37	c.2904G>T	CCDS3639.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.068369	0.55539	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000354268;ENST00000509418	D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68	5.48	1.59	0.23543	Helicase, C-terminal (1);	0.000000	0.47455	D	0.000240	D	0.94125	0.8116	H	0.99582	4.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.92010	0.5617	10	0.87932	D	0	-10.7502	9.0736	0.36508	0.3984:0.0:0.6016:0.0	.	968;970	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	H	970;970;968;538	ENSP00000351947:Q970H;ENSP00000415576:Q970H;ENSP00000346217:Q968H;ENSP00000423286:Q538H	ENSP00000346217:Q968H	Q	+	3	2	SMARCAD1	95423472	1.000000	0.71417	0.998000	0.56505	0.818000	0.46254	3.452000	0.52971	-0.021000	0.14009	-0.229000	0.12294	CAG		0.333	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159		3	36	1	0	1.23904e-05	1	1.32164e-05	3	36				
PACS2	23241	broad.mit.edu	37	14	105818770	105818770	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr14:105818770T>C	ENST00000325438.8	+	3	767	c.263T>C	c.(262-264)gTg>gCg	p.V88A	PACS2_ENST00000458164.2_Missense_Mutation_p.V88A|PACS2_ENST00000547217.1_Intron|PACS2_ENST00000430725.2_Missense_Mutation_p.V21A|PACS2_ENST00000447393.1_Missense_Mutation_p.V88A			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	88					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		AGTGGACAAGTGGAGACAGAC	0.567											OREG0022968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000447393.1																			0				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21						c.(262-264)gTg>gCg		phosphofurin acidic cluster sorting protein 2							233.0	194.0	207.0					14																	105818770		2203	4300	6503	SO:0001583	missense	23241				apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion		g.chr14:105818770T>C	AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"""phosphofurin acidic cluster sorting protein 1-like"""	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.263T>C	14.37:g.105818770T>C	ENSP00000321834:p.Val88Ala		OREG0022968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1392	PACS2_ENST00000458164.2_Missense_Mutation_p.V88A|PACS2_ENST00000430725.2_Missense_Mutation_p.V21A|PACS2_ENST00000325438.8_Missense_Mutation_p.V88A|PACS2_ENST00000547217.1_Intron	p.V88A	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)	3	438	+		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	88					A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Missense_Mutation	SNP	ENST00000325438.8	37	c.263T>C	CCDS32168.1	.	.	.	.	.	.	.	.	.	.	T	19.41	3.821819	0.71028	.	.	ENSG00000179364	ENST00000430725;ENST00000325438;ENST00000458164;ENST00000447393;ENST00000546915	T;T;T;T	0.26810	1.71;1.75;1.75;1.75	4.71	4.71	0.59529	.	0.000000	0.64402	U	0.000004	T	0.33498	0.0865	M	0.71581	2.175	0.58432	D	0.999998	B;B;P;P	0.44429	0.212;0.317;0.82;0.835	B;B;B;B	0.43889	0.059;0.086;0.278;0.435	T	0.20806	-1.0264	10	0.54805	T	0.06	-22.2742	13.1233	0.59340	0.0:0.0:0.0:1.0	.	88;88;88;97	E9PB38;Q86VP3-2;Q86VP3;Q86VP3-3	.;.;PACS2_HUMAN;.	A	21;88;88;88;21	ENSP00000393524:V21A;ENSP00000321834:V88A;ENSP00000399732:V88A;ENSP00000393559:V88A	ENSP00000321834:V88A	V	+	2	0	PACS2	104889815	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.681000	0.61663	1.970000	0.57323	0.459000	0.35465	GTG		0.567	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000409209.1	XM_377355		23	93	0	0	0	1	0	23	93				
SNHG14	104472715	broad.mit.edu	37	15	25332934	25332934	+	RNA	SNP	G	G	T	rs112202902	byFrequency	TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr15:25332934G>T	ENST00000546682.1	+	0	586				SNORD116-20_ENST00000384507.1_lincRNA|SNORD116-19_ENST00000384729.1_RNA|SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000384430.1_RNA|SNORD116-18_ENST00000383961.1_RNA|SNHG14_ENST00000553108.1_RNA|SNORD116-20_ENST00000384529.1_lincRNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		AGACAGAGAAGGCCAACATCC	0.483																																						ENST00000546682.1																			0																				149.0	132.0	137.0					15																	25332934		876	1991	2867			0							g.chr15:25332934G>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25332934G>T						SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA		NR_003361.1						0	586	+									RNA	SNP	ENST00000546682.1	37																																																																																						0.483	SNHG14-022	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000408281.1			71	153	1	0	1.50372e-20	1	1.71854e-20	71	153				
PTCHD4	442213	broad.mit.edu	37	6	47846814	47846814	+	Missense_Mutation	SNP	C	C	T	rs534112009		TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr6:47846814C>T	ENST00000339488.4	-	3	1799	c.1766G>A	c.(1765-1767)cGa>cAa	p.R589Q		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	589						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										GATATCATTTCGAAAATGCTG	0.423													C|||	1	0.000199681	0.0	0.0	5008	,	,		22586	0.0		0.001	False		,,,				2504	0.0					ENST00000339488.4																			0											c.(1765-1767)cGa>cAa		patched domain containing 4							57.0	58.0	58.0					6																	47846814		2203	4300	6503	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47846814C>T		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.1766G>A	6.37:g.47846814C>T	ENSP00000341914:p.Arg589Gln						p.R589Q	NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN			3	1799	-			589					B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.1766G>A	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	C	2.620	-0.288858	0.05605	.	.	ENSG00000244694	ENST00000339488	D	0.84873	-1.91	5.48	5.48	0.80851	.	0.411520	0.23712	N	0.045315	T	0.57051	0.2027	N	0.19112	0.55	0.80722	D	1	B	0.17038	0.02	B	0.20384	0.029	T	0.55179	-0.8181	10	0.13108	T	0.6	.	7.1428	0.25566	0.0:0.793:0.0:0.207	.	589	Q6ZW05	CF138_HUMAN	Q	589	ENSP00000341914:R589Q	ENSP00000341914:R589Q	R	-	2	0	C6orf138	47954773	0.995000	0.38212	0.997000	0.53966	0.995000	0.86356	1.994000	0.40757	2.592000	0.87571	0.650000	0.86243	CGA		0.423	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		9	29	0	0	0	1	0	9	29				
PRAMEF11	440560	broad.mit.edu	37	1	12887308	12887308	+	Silent	SNP	C	C	T			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr1:12887308C>T	ENST00000535591.1	-	3	744	c.549G>A	c.(547-549)caG>caA	p.Q183Q		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	183					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.Q183H(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ATGGGGTAAACTGTGTCAGGA	0.498																																						ENST00000535591.1																			1	Substitution - Missense(1)	p.Q183H(1)	lung(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(547-549)caG>caA		PRAME family member 11																																				SO:0001819	synonymous_variant	440560							g.chr1:12887308C>T	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.549G>A	1.37:g.12887308C>T							p.Q183Q	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			3	744	-			183						Silent	SNP	ENST00000535591.1	37	c.549G>A	CCDS53268.1																																																																																				0.498	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		9	324	0	0	0	1	0	9	324				
NEK4	6787	broad.mit.edu	37	3	52786023	52786023	+	Missense_Mutation	SNP	G	G	C	rs200247224		TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr3:52786023G>C	ENST00000233027.5	-	7	1495	c.1293C>G	c.(1291-1293)gaC>gaG	p.D431E	NEK4_ENST00000535191.1_Missense_Mutation_p.D342E|NEK4_ENST00000383721.4_Missense_Mutation_p.D431E	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	431					mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		CAGTGACAATGTCAGAGGACC	0.468																																						ENST00000233027.5																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26						c.(1291-1293)gaC>gaG		NIMA-related kinase 4							207.0	203.0	204.0					3																	52786023		2203	4300	6503	SO:0001583	missense	6787				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:52786023G>C	L20321	CCDS2863.1, CCDS54593.1	3p21.1	2012-11-15	2012-11-15	2002-05-10	ENSG00000114904	ENSG00000114904	2.7.11.1		11399	protein-coding gene	gene with protein product	"""serine/threonine protein kinase-2"""	601959	"""serine/threonine kinase 2"", ""NIMA (never in mitosis gene a)-related kinase 4"""	STK2		8208544	Standard	NM_001193533		Approved	NRK2, pp12301	uc003dfq.4	P51957	OTTHUMG00000158836	ENST00000233027.5:c.1293C>G	3.37:g.52786023G>C	ENSP00000233027:p.Asp431Glu					NEK4_ENST00000383721.4_Missense_Mutation_p.D431E|NEK4_ENST00000535191.1_Missense_Mutation_p.D342E	p.D431E	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)	7	1495	-			431					A5YM70|B2R633|B7Z200|Q6P576	Missense_Mutation	SNP	ENST00000233027.5	37	c.1293C>G	CCDS2863.1	.	.	.	.	.	.	.	.	.	.	G	2.064	-0.414725	0.04766	.	.	ENSG00000114904	ENST00000233027;ENST00000535191;ENST00000383721;ENST00000461689	T;T;T;T	0.72051	-0.54;-0.62;-0.55;-0.62	4.7	-7.82	0.01205	.	1.110220	0.06820	N	0.792157	T	0.47746	0.1462	L	0.44542	1.39	0.09310	N	1	P;P;P	0.40000	0.698;0.469;0.488	B;B;B	0.30572	0.108;0.117;0.05	T	0.40942	-0.9536	10	0.12103	T	0.63	.	7.0549	0.25093	0.6714:0.2063:0.1223:0.0	.	342;431;431	B7Z200;P51957-2;P51957	.;.;NEK4_HUMAN	E	431;342;431;342	ENSP00000233027:D431E;ENSP00000437703:D342E;ENSP00000373227:D431E;ENSP00000419666:D342E	ENSP00000233027:D431E	D	-	3	2	NEK4	52761063	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.029000	0.12329	-1.025000	0.03334	-0.282000	0.10007	GAC		0.468	NEK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352386.2	NM_003157		63	149	0	0	0	1	0	63	149				
MIR100	406892	broad.mit.edu	37	11	122023002	122023002	+	RNA	SNP	G	G	A			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr11:122023002G>A	ENST00000385259.1	-	0	14					NR_029515.1				microRNA 100																		GGATCTACGGGTTTGTGGCAA	0.418																																						ENST00000385259.1																			0																				132.0	122.0	125.0					11																	122023002		1567	3581	5148			0							g.chr11:122023002G>A			11q24.1	2011-09-12		2008-12-18	ENSG00000207994	ENSG00000207994		"""ncRNAs / Micro RNAs"""	31487	non-coding RNA	RNA, micro		613186		MIRN100			Standard	NR_029515		Approved	hsa-mir-100	uc001pyh.1				11.37:g.122023002G>A								NR_029515.1						0	14	-									RNA	SNP	ENST00000385259.1	37																																																																																						0.418	MIR100-201	KNOWN	basic	miRNA	miRNA		NR_029515		12	49	0	0	0	1	0	12	49				
EPB41L2	2037	broad.mit.edu	37	6	131191226	131191226	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr6:131191226C>T	ENST00000337057.3	-	15	2265	c.2084G>A	c.(2083-2085)cGg>cAg	p.R695Q	EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000527411.1_Missense_Mutation_p.R625Q|EPB41L2_ENST00000529208.1_Missense_Mutation_p.R625Q|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000524581.1_Missense_Mutation_p.R73Q|EPB41L2_ENST00000368128.2_Missense_Mutation_p.R695Q|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000530481.1_Missense_Mutation_p.R625Q|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000527659.1_Missense_Mutation_p.R625Q|EPB41L2_ENST00000528282.1_Intron	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	695					cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		AACCTCTGCCCGCTTCTTCTC	0.408																																						ENST00000337057.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44						c.(2083-2085)cGg>cAg		erythrocyte membrane protein band 4.1-like 2							45.0	48.0	47.0					6																	131191226		2203	4300	6503	SO:0001583	missense	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131191226C>T	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.2084G>A	6.37:g.131191226C>T	ENSP00000338481:p.Arg695Gln					EPB41L2_ENST00000527411.1_Missense_Mutation_p.R625Q|EPB41L2_ENST00000530481.1_Missense_Mutation_p.R625Q|EPB41L2_ENST00000527659.1_Missense_Mutation_p.R625Q|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000524581.1_Missense_Mutation_p.R73Q|EPB41L2_ENST00000529208.1_Missense_Mutation_p.R625Q|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000368128.2_Missense_Mutation_p.R695Q|EPB41L2_ENST00000528282.1_Intron	p.R695Q	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	15	2265	-	Breast(56;0.0639)		695					B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	ENST00000337057.3	37	c.2084G>A	CCDS5141.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.551|3.551	-0.091691|-0.091691	0.07053|0.07053	.|.	.|.	ENSG00000079819|ENSG00000079819	ENST00000425439|ENST00000530481;ENST00000337057;ENST00000257986;ENST00000368128;ENST00000527411;ENST00000524581;ENST00000527659;ENST00000529208;ENST00000527423;ENST00000525198	.|T;T;T;T;T;T;T	.|0.81163	.|-1.39;-1.46;-1.46;-1.37;-0.93;-1.27;-1.37	5.57|5.57	0.847|0.847	0.18961|0.18961	.|.	.|0.689428	.|0.15223	.|N	.|0.273840	T|T	0.20495|0.20495	0.0493|0.0493	N|N	0.00801|0.00801	-1.175|-1.175	0.09310|0.09310	N|N	0.999998|0.999998	.|B;B;B;B;B	.|0.14012	.|0.006;0.009;0.001;0.004;0.002	.|B;B;B;B;B	.|0.06405	.|0.002;0.001;0.001;0.002;0.001	T|T	0.46148|0.46148	-0.9212|-0.9212	6|10	0.11182|0.02654	T|T	0.66|1	.|.	9.2065|9.2065	0.37293|0.37293	0.0:0.192:0.0:0.808|0.0:0.192:0.0:0.808	.|.	.|625;92;625;695;73	.|E9PHY5;E9PCC2;E9PPD9;O43491;Q6R5J7	.|.;.;.;E41L2_HUMAN;.	R|Q	625|625;695;92;695;625;73;625;625;94;147	.|ENSP00000434576:R625Q;ENSP00000338481:R695Q;ENSP00000357110:R695Q;ENSP00000436348:R625Q;ENSP00000437207:R73Q;ENSP00000431647:R625Q;ENSP00000436641:R625Q	ENSP00000397480:G625R|ENSP00000257986:R92Q	G|R	-|-	1|2	0|0	EPB41L2|EPB41L2	131232919|131232919	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.998000|0.998000	0.95712|0.95712	0.660000|0.660000	0.25009|0.25009	-0.023000|-0.023000	0.13963|0.13963	0.555000|0.555000	0.69702|0.69702	GGG|CGG		0.408	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			8	41	0	0	0	1	0	8	41				
SPANXN1	494118	broad.mit.edu	37	X	144337277	144337277	+	Silent	SNP	T	T	C			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chrX:144337277T>C	ENST00000370493.3	+	2	921	c.162T>C	c.(160-162)ttT>ttC	p.F54F		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	54										endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TATTAGCGTTTTGCTACAGGA	0.433																																						ENST00000370493.3																			0				endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14						c.(160-162)ttT>ttC		SPANX family, member N1							181.0	156.0	164.0					X																	144337277		2203	4297	6500	SO:0001819	synonymous_variant	494118							g.chrX:144337277T>C		CCDS35421.1	Xq27.3	2009-03-25				ENSG00000203923			33174	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 6"""	300664				14973187, 17012309	Standard	NM_001009614		Approved	SPANX-N1, CT11.6	uc004fcb.2	Q5VSR9		ENST00000370493.3:c.162T>C	X.37:g.144337277T>C							p.F54F	NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN			2	921	+	Acute lymphoblastic leukemia(192;6.56e-05)		54						Silent	SNP	ENST00000370493.3	37	c.162T>C	CCDS35421.1																																																																																				0.433	SPANXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058631.2	NM_001009614		3	56	0	0	0	1	0	3	56				
TMEM5	10329	broad.mit.edu	37	12	64174844	64174844	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr12:64174844A>G	ENST00000261234.6	+	2	373	c.215A>G	c.(214-216)gAt>gGt	p.D72G	RP11-415I12.3_ENST00000509615.2_RNA|TMEM5_ENST00000537982.1_3'UTR|TMEM5_ENST00000537373.1_5'UTR	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	72						integral component of plasma membrane (GO:0005887)				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		TGGGAAGGAGATGAAAAAAAT	0.348																																						ENST00000261234.6																			0				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15						c.(214-216)gAt>gGt		transmembrane protein 5							90.0	96.0	94.0					12																	64174844		2203	4300	6503	SO:0001583	missense	10329					integral to plasma membrane		g.chr12:64174844A>G	AB015633	CCDS8966.1, CCDS61179.1	12q14.1	2013-05-07			ENSG00000118600	ENSG00000118600			13530	protein-coding gene	gene with protein product		605862				10072769, 23217329	Standard	NM_014254		Approved	HP10481	uc001srq.2	Q9Y2B1	OTTHUMG00000168730	ENST00000261234.6:c.215A>G	12.37:g.64174844A>G	ENSP00000261234:p.Asp72Gly					TMEM5_ENST00000537373.1_5'UTR|TMEM5_ENST00000537982.1_3'UTR|RP11-415I12.3_ENST00000509615.2_RNA	p.D72G	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)	2	373	+		Myeloproliferative disorder(1001;0.0255)	72					A8K017|Q6PKD6	Missense_Mutation	SNP	ENST00000261234.6	37	c.215A>G	CCDS8966.1	.	.	.	.	.	.	.	.	.	.	A	18.94	3.729193	0.69074	.	.	ENSG00000118600	ENST00000261234	T	0.32988	1.43	4.34	4.34	0.51931	.	0.105774	0.64402	D	0.000006	T	0.51143	0.1657	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.50996	-0.8761	9	.	.	.	-12.5068	10.4561	0.44550	1.0:0.0:0.0:0.0	.	72	Q9Y2B1	TMEM5_HUMAN	G	72	ENSP00000261234:D72G	.	D	+	2	0	TMEM5	62461111	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.352000	0.66028	1.897000	0.54924	0.402000	0.26972	GAT		0.348	TMEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400821.1	NM_014254		19	51	0	0	0	1	0	19	51				
CYP2C9	1559	broad.mit.edu	37	10	96731943	96731943	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr10:96731943C>T	ENST00000260682.6	+	6	914	c.902C>T	c.(901-903)aCg>aTg	p.T301M		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	301					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	GGGACAGAGACGACAAGCACA	0.418																																					Ovarian(54;1266 1406 16072 35076)	ENST00000260682.6																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(901-903)aCg>aTg		cytochrome P450, family 2, subfamily C, polypeptide 9	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)						182.0	170.0	174.0					10																	96731943		2203	4300	6503	SO:0001583	missense	1559				exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96731943C>T	M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"""Cytochrome P450s"""	2623	protein-coding gene	gene with protein product		601130	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"""	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.902C>T	10.37:g.96731943C>T	ENSP00000260682:p.Thr301Met						p.T301M	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN		all cancers(201;6.93e-05)	6	914	+		Colorectal(252;0.0902)	301					P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Missense_Mutation	SNP	ENST00000260682.6	37	c.902C>T	CCDS7437.1	.	.	.	.	.	.	.	.	.	.	.	17.02	3.282883	0.59867	.	.	ENSG00000138109	ENST00000545448;ENST00000260682	D	0.87966	-2.32	2.95	2.95	0.34219	.	0.000000	0.64402	U	0.000001	D	0.95570	0.8560	H	0.98559	4.265	0.42909	D	0.99425	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	D	0.96261	0.9191	10	0.87932	D	0	.	11.6787	0.51444	0.0:1.0:0.0:0.0	.	301;301	Q5VX92;P11712	.;CP2C9_HUMAN	M	301	ENSP00000260682:T301M	ENSP00000260682:T301M	T	+	2	0	CYP2C9	96721933	0.999000	0.42202	0.997000	0.53966	0.801000	0.45260	4.731000	0.62022	1.653000	0.50694	0.484000	0.47621	ACG		0.418	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1	NM_000771		26	74	0	0	0	1	0	26	74				
CHRNA1	1134	broad.mit.edu	37	2	175618303	175618303	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr2:175618303C>T	ENST00000261007.5	-	7	847	c.781G>A	c.(781-783)Gtc>Atc	p.V261I	AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000348749.5_Missense_Mutation_p.V236I|CHRNA1_ENST00000409323.1_Missense_Mutation_p.V236I|CHRNA1_ENST00000409542.1_Missense_Mutation_p.V154I|CHRNA1_ENST00000409219.1_Missense_Mutation_p.V236I	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	261					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	ATGACGTTGACGATGAAGTAG	0.582																																						ENST00000348749.5																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						c.(706-708)Gtc>Atc		cholinergic receptor, nicotinic, alpha 1 (muscle)							234.0	209.0	218.0					2																	175618303		2203	4300	6503	SO:0001583	missense	1134				muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr2:175618303C>T	Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1955	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 1 (muscle)"""	100690	"""cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"""	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.781G>A	2.37:g.175618303C>T	ENSP00000261007:p.Val261Ile					AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409323.1_Missense_Mutation_p.V236I|CHRNA1_ENST00000261007.5_Missense_Mutation_p.V261I|CHRNA1_ENST00000409219.1_Missense_Mutation_p.V236I|CHRNA1_ENST00000409542.1_Missense_Mutation_p.V154I	p.V236I	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN			6	783	-			261					B4DRV6|D3DPE8	Missense_Mutation	SNP	ENST00000261007.5	37	c.706G>A	CCDS33331.1	.	.	.	.	.	.	.	.	.	.	C	7.911	0.736536	0.15574	.	.	ENSG00000138435	ENST00000348749;ENST00000261007;ENST00000409542;ENST00000409219;ENST00000409323	T;T;T;D;T	0.83755	-1.4;-1.4;-1.4;-1.76;-0.36	5.17	3.38	0.38709	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.105910	0.64402	N	0.000005	T	0.67970	0.2950	N	0.20328	0.56	0.58432	D	0.999999	B;B;B	0.27192	0.005;0.056;0.171	B;B;B	0.21546	0.011;0.027;0.035	T	0.58584	-0.7611	10	0.11182	T	0.66	.	12.4489	0.55667	0.0:0.8761:0.0:0.1239	.	236;236;261	G5E9G9;Q53SH4;P02708	.;.;ACHA_HUMAN	I	236;261;154;236;236	ENSP00000261008:V236I;ENSP00000261007:V261I;ENSP00000387026:V154I;ENSP00000386611:V236I;ENSP00000386684:V236I	ENSP00000261007:V261I	V	-	1	0	CHRNA1	175326549	0.998000	0.40836	0.999000	0.59377	0.982000	0.71751	3.298000	0.51818	0.677000	0.31305	0.650000	0.86243	GTC		0.582	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334116.1			16	69	0	0	0	1	0	16	69				
CADM3	57863	broad.mit.edu	37	1	159162404	159162404	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr1:159162404C>T	ENST00000368125.4	+	3	423	c.266C>T	c.(265-267)aCg>aTg	p.T89M	CADM3_ENST00000368124.4_Missense_Mutation_p.T123M	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	89	Ig-like V-type.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.T123M(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					GTTACCTCTACGCCCCACGAG	0.507																																						ENST00000368125.4																			1	Substitution - Missense(1)	p.T123M(1)	skin(1)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(265-267)aCg>aTg		cell adhesion molecule 3							143.0	119.0	127.0					1																	159162404		2203	4300	6503	SO:0001583	missense	57863				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	g.chr1:159162404C>T	AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.266C>T	1.37:g.159162404C>T	ENSP00000357107:p.Thr89Met					CADM3_ENST00000368124.4_Missense_Mutation_p.T123M	p.T89M	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN			3	423	+	all_hematologic(112;0.0429)		89			Ig-like V-type.		Q8IZQ9|Q9NVJ5|Q9UJP1	Missense_Mutation	SNP	ENST00000368125.4	37	c.266C>T	CCDS44251.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.402662	0.42613	.	.	ENSG00000162706	ENST00000368124;ENST00000368125;ENST00000416746	D;D;D	0.84660	-1.88;-1.88;-1.88	5.22	5.22	0.72569	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.068114	0.56097	D	0.000036	D	0.87458	0.6182	L	0.61218	1.895	0.28871	N	0.894971	D;D;D	0.89917	1.0;1.0;1.0	P;D;P	0.71656	0.89;0.974;0.905	T	0.83035	-0.0160	10	0.87932	D	0	.	11.9319	0.52851	0.0:0.8253:0.1747:0.0	.	89;89;123	Q8N126-3;Q8N126;Q8N126-2	.;CADM3_HUMAN;.	M	123;89;89	ENSP00000357106:T123M;ENSP00000357107:T89M;ENSP00000387802:T89M	ENSP00000357106:T123M	T	+	2	0	CADM3	157429028	0.921000	0.31238	0.077000	0.20336	0.089000	0.18198	5.400000	0.66320	2.708000	0.92522	0.650000	0.86243	ACG		0.507	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189		16	43	0	0	0	1	0	16	43				
CLCN5	1184	broad.mit.edu	37	X	49689925	49689925	+	Splice_Site	SNP	G	G	T			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chrX:49689925G>T	ENST00000376088.3	+	3	657		c.e3+1		CLCN5_ENST00000482218.2_Splice_Site|CLCN5_ENST00000376091.3_Splice_Site	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5						chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					ATGTGGCAGGGTAAGAAATTA	0.507																																						ENST00000376088.3																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30						c.e3+1		chloride channel, voltage-sensitive 5							191.0	175.0	180.0					X																	49689925		1568	3582	5150	SO:0001630	splice_region_variant	1184				excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding	g.chrX:49689925G>T	X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"""Ion channels / Chloride channels : Voltage-sensitive"""	2023	protein-coding gene	gene with protein product	"""Dent disease"""	300008	"""nephrolithiasis 2, X-linked"", ""nephrolithiasis 1 (X-linked)"", ""chloride channel 5"""	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000376088.3:c.16+1G>T	X.37:g.49689925G>T						CLCN5_ENST00000482218.1_Splice_Site|CLCN5_ENST00000376091.3_Splice_Site		NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN			3	657	+	Ovarian(276;0.236)							A1L475|B3KPN6|Q5JQD5|Q7RTN8	Splice_Site	SNP	ENST00000376088.3	37		CCDS48115.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.802220	0.50315	.	.	ENSG00000171365	ENST00000376088;ENST00000376091	.	.	.	3.9	3.03	0.35002	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.9295	0.29893	0.0:0.0:0.7562:0.2438	.	.	.	.	.	-1	.	.	.	+	.	.	CLCN5	49576665	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.969000	0.56816	0.995000	0.38917	0.600000	0.82982	.		0.507	CLCN5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056542.2		Intron	19	25	1	0	1.64113e-05	1	1.69407e-05	19	25				
COL5A1	1289	broad.mit.edu	37	9	137642401	137642401	+	Missense_Mutation	SNP	G	G	A	rs146716315		TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr9:137642401G>A	ENST00000371817.3	+	12	1922	c.1508G>A	c.(1507-1509)cGc>cAc	p.R503H		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	503	Interrupted collagenous region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCCCTGGACGCCCAGGCCTT	0.662																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(1507-1509)cGc>cAc		collagen, type V, alpha 1							46.0	52.0	50.0					9																	137642401		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137642401G>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1508G>A	9.37:g.137642401G>A	ENSP00000360882:p.Arg503His						p.R503H	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	12	1922	+		Myeloproliferative disorder(178;0.0341)	503			Interrupted collagenous region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.1508G>A	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118546	0.56505	.	.	ENSG00000130635	ENST00000371817	D	0.93604	-3.25	4.16	3.26	0.37387	.	0.000000	0.85682	U	0.000000	D	0.88851	0.6549	L	0.55103	1.725	0.48901	D	0.99972	P	0.35348	0.496	B	0.22753	0.041	D	0.86918	0.2065	10	0.72032	D	0.01	.	11.0374	0.47808	0.0955:0.0:0.9044:0.0	.	503	P20908	CO5A1_HUMAN	H	503	ENSP00000360882:R503H	ENSP00000360882:R503H	R	+	2	0	COL5A1	136782222	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.821000	0.75272	0.842000	0.35045	0.563000	0.77884	CGC		0.662	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		12	36	0	0	0	1	0	12	36				
DZIP1L	199221	broad.mit.edu	37	3	137802957	137802957	+	Missense_Mutation	SNP	T	T	A			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr3:137802957T>A	ENST00000327532.2	-	8	1563	c.1201A>T	c.(1201-1203)Atg>Ttg	p.M401L	DZIP1L_ENST00000488595.1_Intron|DZIP1L_ENST00000469243.1_Missense_Mutation_p.M401L	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	401					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						AGACCTACCATCTCCTCCTGG	0.567																																						ENST00000327532.2																			0				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						c.(1201-1203)Atg>Ttg		DAZ interacting zinc finger protein 1-like							141.0	135.0	137.0					3																	137802957		2203	4300	6503	SO:0001583	missense	199221					intracellular	zinc ion binding	g.chr3:137802957T>A	AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"""DAZ interacting protein 1-like"""			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.1201A>T	3.37:g.137802957T>A	ENSP00000332148:p.Met401Leu					DZIP1L_ENST00000488595.1_Intron|DZIP1L_ENST00000469243.1_Missense_Mutation_p.M401L	p.M401L	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN			8	1563	-			401					C9JUG5|Q96M38	Missense_Mutation	SNP	ENST00000327532.2	37	c.1201A>T	CCDS3096.1	.	.	.	.	.	.	.	.	.	.	T	13.19	2.162236	0.38217	.	.	ENSG00000158163	ENST00000327532;ENST00000469243;ENST00000536706	T;T	0.43294	0.95;0.95	5.7	3.31	0.37934	.	0.947382	0.08791	N	0.893173	T	0.36690	0.0976	L	0.51422	1.61	0.09310	N	0.999994	B;B	0.16396	0.017;0.01	B;B	0.16289	0.015;0.007	T	0.30031	-0.9992	10	0.48119	T	0.1	-0.9133	6.2607	0.20899	0.0:0.0824:0.1626:0.7549	.	401;401	Q8IYY4-2;Q8IYY4	.;DZI1L_HUMAN	L	401	ENSP00000332148:M401L;ENSP00000419486:M401L	ENSP00000332148:M401L	M	-	1	0	DZIP1L	139285647	0.955000	0.32602	0.457000	0.27056	0.822000	0.46500	1.911000	0.39937	0.961000	0.38030	0.528000	0.53228	ATG		0.567	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357548.1	NM_173543		20	65	0	0	0	1	0	20	65				
SUSD1	64420	broad.mit.edu	37	9	114820961	114820961	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr9:114820961T>C	ENST00000374270.3	-	14	2028	c.1856A>G	c.(1855-1857)tAt>tGt	p.Y619C	SUSD1_ENST00000374264.2_Missense_Mutation_p.Y619C|SUSD1_ENST00000374263.3_Missense_Mutation_p.Y619C	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	619						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TAACACCTGATATGAACTGGA	0.453																																						ENST00000374270.3																		SUSD1/ROD1(2)	0				central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1855-1857)tAt>tGt		sushi domain containing 1							79.0	86.0	84.0					9																	114820961		2203	4300	6503	SO:0001583	missense	64420					integral to membrane	calcium ion binding	g.chr9:114820961T>C	AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.1856A>G	9.37:g.114820961T>C	ENSP00000363388:p.Tyr619Cys					SUSD1_ENST00000374263.3_Missense_Mutation_p.Y619C|SUSD1_ENST00000374264.2_Missense_Mutation_p.Y619C	p.Y619C	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN			14	2028	-			619					A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Missense_Mutation	SNP	ENST00000374270.3	37	c.1856A>G	CCDS6783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.13|19.13	3.768276|3.768276	0.69878|0.69878	.|.	.|.	ENSG00000106868|ENSG00000106868	ENST00000355396|ENST00000374270;ENST00000374263;ENST00000374264	.|T;T;T	.|0.81330	.|1.52;-1.48;1.52	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	.|0.000000	.|0.43579	.|D	.|0.000545	D|D	0.91088|0.91088	0.7195|0.7195	M|M	0.88105|0.88105	2.93|2.93	0.47065|0.47065	D|D	0.999309|0.999309	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.999;0.998	D|D	0.92812|0.92812	0.6265|0.6265	5|10	.|0.87932	.|D	.|0	-21.5796|-21.5796	15.4918|15.4918	0.75611|0.75611	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|619;619;619	.|F8WAQ1;Q6UWL2-2;Q6UWL2	.|.;.;SUSD1_HUMAN	M|C	602|619	.|ENSP00000363388:Y619C;ENSP00000363381:Y619C;ENSP00000363382:Y619C	.|ENSP00000363381:Y619C	I|Y	-|-	3|2	3|0	SUSD1|SUSD1	113860782|113860782	1.000000|1.000000	0.71417|0.71417	0.984000|0.984000	0.44739|0.44739	0.982000|0.982000	0.71751|0.71751	5.945000|5.945000	0.70226|0.70226	2.065000|2.065000	0.61736|0.61736	0.459000|0.459000	0.35465|0.35465	ATA|TAT		0.453	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	NM_022486		8	50	0	0	0	1	0	8	50				
TP53	7157	broad.mit.edu	37	17	7577102	7577102	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr17:7577102C>T	ENST00000269305.4	-	8	1025	c.836G>A	c.(835-837)gGg>gAg	p.G279E	TP53_ENST00000420246.2_Missense_Mutation_p.G279E|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.G279E|TP53_ENST00000445888.2_Missense_Mutation_p.G279E|TP53_ENST00000455263.2_Missense_Mutation_p.G279E|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	279	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> W (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G279E(32)|p.0?(8)|p.G279V(4)|p.?(2)|p.G279fs*65(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.G279fs*26(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCGGTCTCTCCCAGGACAGGC	0.547		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		60	Substitution - Missense(36)|Deletion - Frameshift(8)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(2)	p.G279E(32)|p.0?(8)|p.G279V(4)|p.?(2)|p.G279fs*65(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.G279fs*26(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	upper_aerodigestive_tract(16)|urinary_tract(8)|oesophagus(7)|breast(5)|bone(5)|haematopoietic_and_lymphoid_tissue(4)|skin(4)|large_intestine(3)|central_nervous_system(3)|ovary(2)|stomach(1)|lung(1)|liver(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(835-837)gGg>gAg	Other conserved DNA damage response genes	tumor protein p53							75.0	65.0	68.0					17																	7577102		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577102C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.836G>A	17.37:g.7577102C>T	ENSP00000269305:p.Gly279Glu	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.G279E|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.G279E|TP53_ENST00000269305.4_Missense_Mutation_p.G279E|TP53_ENST00000455263.2_Missense_Mutation_p.G279E	p.G279E	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	968	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	279		G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> W (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.836G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.753775	0.89753	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99898	-7.61;-7.61;-7.61;-7.61;-7.61;-7.61	5.13	4.16	0.48862	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99883	0.9944	M	0.90425	3.115	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	0.999;0.991;0.999;1.0	D	0.96457	0.9338	10	0.87932	D	0	-22.6503	11.5187	0.50539	0.0:0.9131:0.0:0.0869	.	279;279;279;279	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	E	279;279;279;279;279;268;147	ENSP00000352610:G279E;ENSP00000269305:G279E;ENSP00000398846:G279E;ENSP00000391127:G279E;ENSP00000391478:G279E;ENSP00000425104:G147E	ENSP00000269305:G279E	G	-	2	0	TP53	7517827	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.862000	0.69560	1.390000	0.46547	0.462000	0.41574	GGG		0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		7	7	0	0	0	1	0	7	7				
EIF4E3	317649	broad.mit.edu	37	3	71745611	71745611	+	Splice_Site	SNP	C	C	T	rs530682446	byFrequency	TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr3:71745611C>T	ENST00000425534.3	-	4	412	c.405G>A	c.(403-405)acG>acA	p.T135T	EIF4E3_ENST00000468147.1_Intron|EIF4E3_ENST00000389826.3_Splice_Site_p.T29T|EIF4E3_ENST00000295612.3_Splice_Site_p.T29T|EIF4E3_ENST00000421769.2_Splice_Site_p.T29T|EIF4E3_ENST00000448225.1_Splice_Site_p.T29T	NM_001134651.1	NP_001128123.1	Q8N5X7	IF4E3_HUMAN	eukaryotic translation initiation factor 4E family member 3	135					cytokine-mediated signaling pathway (GO:0019221)|regulation of translation (GO:0006417)	cytosol (GO:0005829)|mRNA cap binding complex (GO:0005845)	translation initiation factor activity (GO:0003743)			large_intestine(1)|lung(3)	4		Prostate(10;0.0166)		BRCA - Breast invasive adenocarcinoma(55;2.56e-05)|Epithelial(33;2.9e-05)|Lung(16;9.28e-05)|LUSC - Lung squamous cell carcinoma(21;0.00227)		AGGAACCTACCGTGCTGTCCT	0.493													C|||	2	0.000399361	0.0015	0.0	5008	,	,		14145	0.0		0.0	False		,,,				2504	0.0					ENST00000448225.1																			0				large_intestine(1)|lung(3)	4						c.e5+1		eukaryotic translation initiation factor 4E family member 3							183.0	140.0	154.0					3																	71745611		2203	4300	6503	SO:0001630	splice_region_variant	317649				regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity	g.chr3:71745611C>T	AK126999	CCDS33786.1, CCDS46867.1	3p14	2008-02-05	2006-11-13		ENSG00000163412	ENSG00000163412			31837	protein-coding gene	gene with protein product		609896	"""eukaryotic translation initiation factor 4E member 3"""			15153109	Standard	NM_173359		Approved	MGC39820	uc003dov.4	Q8N5X7	OTTHUMG00000158797	ENST00000425534.3:c.405+1G>A	3.37:g.71745611C>T						EIF4E3_ENST00000295612.3_Splice_Site_p.T29_splice|EIF4E3_ENST00000425534.2_Splice_Site_p.T135_splice|EIF4E3_ENST00000468147.1_Intron|EIF4E3_ENST00000389826.3_Splice_Site_p.T29_splice|EIF4E3_ENST00000421769.2_Splice_Site_p.T29_splice	p.T29_splice	NM_001134649.1	NP_001128121.1	Q8N5X7	IF4E3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;2.56e-05)|Epithelial(33;2.9e-05)|Lung(16;9.28e-05)|LUSC - Lung squamous cell carcinoma(21;0.00227)	5	543	-		Prostate(10;0.0166)	135					B2R963|Q6NUT1	Splice_Site	SNP	ENST00000425534.3	37	c.87_splice	CCDS46867.1																																																																																				0.493	EIF4E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352294.2	NM_173359	Silent	14	47	0	0	0	1	0	14	47				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	40	0	0	0	1	0	3	40				
VSIG10	54621	broad.mit.edu	37	12	118533490	118533490	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr12:118533490T>C	ENST00000359236.5	-	2	485	c.209A>G	c.(208-210)aAc>aGc	p.N70S	VSIG10_ENST00000536905.1_5'UTR	NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	70	Ig-like C2-type 1.					integral component of membrane (GO:0016021)				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						GAGGCTAGAGTTGGACGAGAG	0.572																																						ENST00000359236.5																			0				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(208-210)aAc>aGc		V-set and immunoglobulin domain containing 10							71.0	84.0	80.0					12																	118533490		2146	4260	6406	SO:0001583	missense	54621					integral to membrane		g.chr12:118533490T>C		CCDS44992.1	12q24.23	2013-01-29			ENSG00000176834	ENSG00000176834		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26078	protein-coding gene	gene with protein product						12477932	Standard	NM_019086		Approved		uc001tws.3	Q8N0Z9		ENST00000359236.5:c.209A>G	12.37:g.118533490T>C	ENSP00000352172:p.Asn70Ser					VSIG10_ENST00000536905.1_5'UTR	p.N70S	NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN			2	485	-			70			Ig-like C2-type 1.		Q9NWQ7	Missense_Mutation	SNP	ENST00000359236.5	37	c.209A>G	CCDS44992.1	.	.	.	.	.	.	.	.	.	.	T	8.347	0.830002	0.16749	.	.	ENSG00000176834	ENST00000359236;ENST00000538357	T;T	0.22945	1.93;1.93	4.99	3.85	0.44370	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);	0.292938	0.24433	N	0.038580	T	0.13884	0.0336	N	0.25201	0.72	0.27810	N	0.942177	B	0.17465	0.022	B	0.12837	0.008	T	0.28713	-1.0035	10	0.08381	T	0.77	-12.0375	8.4743	0.33003	0.0:0.0897:0.0:0.9103	.	70	Q8N0Z9	VSI10_HUMAN	S	70	ENSP00000352172:N70S;ENSP00000442861:N70S	ENSP00000352172:N70S	N	-	2	0	VSIG10	117017873	0.847000	0.29606	0.775000	0.31657	0.078000	0.17371	1.283000	0.33237	0.936000	0.37367	0.533000	0.62120	AAC		0.572	VSIG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401273.2	NM_019086		10	24	0	0	0	1	0	10	24				
IFT122	55764	broad.mit.edu	37	3	129182397	129182397	+	Intron	SNP	T	T	C			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr3:129182397T>C	ENST00000348417.2	+	6	426				IFT122_ENST00000440957.2_Intron|IFT122_ENST00000504021.1_Missense_Mutation_p.I68T|IFT122_ENST00000296266.3_Intron|IFT122_ENST00000431818.2_Intron|IFT122_ENST00000349441.2_Intron|IFT122_ENST00000347300.2_Intron|IFT122_ENST00000507564.1_Intron	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122						camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TTATTGTGCATTGAAGGGTTG	0.388																																						ENST00000504021.1																			0				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(202-204)aTt>aCt		intraflagellar transport 122 homolog (Chlamydomonas)							121.0	120.0	121.0					3																	129182397		2203	4300	6503	SO:0001627	intron_variant	55764				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		g.chr3:129182397T>C	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.350-6T>C	3.37:g.129182397T>C						IFT122_ENST00000296266.3_Intron|IFT122_ENST00000349441.2_Intron|IFT122_ENST00000431818.2_Intron|IFT122_ENST00000347300.2_Intron|IFT122_ENST00000507564.1_Intron|IFT122_ENST00000440957.2_Intron|IFT122_ENST00000348417.2_Intron	p.I68T			Q9HBG6	IF122_HUMAN			4	297	+			99					B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	ENST00000348417.2	37	c.203T>C	CCDS3061.1	.	.	.	.	.	.	.	.	.	.	T	12.34	1.909719	0.33721	.	.	ENSG00000163913	ENST00000504021	T	0.36157	1.27	4.77	-0.291	0.12843	.	.	.	.	.	T	0.30262	0.0759	.	.	.	0.19300	N	0.99997	.	.	.	.	.	.	T	0.30238	-0.9985	6	0.45353	T	0.12	.	5.6114	0.17408	0.1278:0.3116:0.0:0.5606	.	.	.	.	T	68	ENSP00000422179:I68T	ENSP00000422179:I68T	I	+	2	0	IFT122	130665087	.	.	0.069000	0.20011	0.659000	0.38960	.	.	0.010000	0.14839	0.459000	0.35465	ATT		0.388	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		22	49	0	0	0	1	0	22	49				
MUC16	94025	broad.mit.edu	37	19	9049442	9049442	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr19:9049442G>A	ENST00000397910.4	-	5	32392	c.32189C>T	c.(32188-32190)tCa>tTa	p.S10730L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10732	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCACCAGGTGAGACAGTCAT	0.453																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(32188-32190)tCa>tTa		mucin 16, cell surface associated							228.0	202.0	210.0					19																	9049442		1914	4135	6049	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9049442G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.32189C>T	19.37:g.9049442G>A	ENSP00000381008:p.Ser10730Leu						p.S10730L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	32392	-			10732			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.32189C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	7.558	0.664211	0.14710	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	3.03	-0.58	0.11717	.	.	.	.	.	T	0.02047	0.0064	N	0.20986	0.625	.	.	.	B	0.27229	0.172	B	0.26614	0.071	T	0.43556	-0.9384	8	0.87932	D	0	.	2.775	0.05345	0.2618:0.0:0.5175:0.2206	.	10730	B5ME49	.	L	10730	ENSP00000381008:S10730L	ENSP00000381008:S10730L	S	-	2	0	MUC16	8910442	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.114000	0.10757	-0.017000	0.14103	0.479000	0.44913	TCA		0.453	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		58	157	0	0	0	1	0	58	157				
ESR1	2099	broad.mit.edu	37	6	152420002	152420002	+	Silent	SNP	G	G	A	rs147982903		TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr6:152420002G>A	ENST00000206249.3	+	8	2051	c.1689G>A	c.(1687-1689)acG>acA	p.T563T	ESR1_ENST00000443427.1_Silent_p.T563T|ESR1_ENST00000338799.5_Silent_p.T563T|ESR1_ENST00000406599.1_Silent_p.T302T|ESR1_ENST00000440973.1_Silent_p.T563T|ESR1_ENST00000427531.2_Intron|ESR1_ENST00000456483.2_Silent_p.T451T	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	563	Interaction with AKAP13.|Self-association.|Transactivation AF-2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	TGGAGGAGACGGACCAAAGCC	0.607																																						ENST00000440973.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49						c.(1687-1689)acG>acA		estrogen receptor 1	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	G	,,,	1,4405	2.1+/-5.4	0,1,2202	87.0	78.0	81.0		1689,1689,1689,1689	-6.2	0.0	6	dbSNP_134	81	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ESR1	NM_000125.3,NM_001122740.1,NM_001122741.1,NM_001122742.1	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	563/596,563/596,563/596,563/596	152420002	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2099				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr6:152420002G>A	X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"""Nuclear hormone receptors"""	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.1689G>A	6.37:g.152420002G>A						ESR1_ENST00000456483.2_Silent_p.T451T|ESR1_ENST00000338799.5_Silent_p.T563T|ESR1_ENST00000544394.1_Intron|ESR1_ENST00000443427.1_Silent_p.T563T|ESR1_ENST00000406599.1_Silent_p.T302T|ESR1_ENST00000206249.3_Silent_p.T563T	p.T563T	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	10	2059	+		Ovarian(120;0.0448)	563			Interaction with AKAP13.		Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Silent	SNP	ENST00000206249.3	37	c.1689G>A	CCDS5234.1																																																																																				0.607	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1			3	42	0	0	0	1	0	3	42				
ANK3	288	broad.mit.edu	37	10	61848065	61848065	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr10:61848065G>A	ENST00000280772.2	-	29	3571	c.3380C>T	c.(3379-3381)aCg>aTg	p.T1127M	ANK3_ENST00000373827.2_Missense_Mutation_p.T1121M|ANK3_ENST00000355288.2_Missense_Mutation_p.T261M|ANK3_ENST00000503366.1_Missense_Mutation_p.T1128M	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1127	ZU5 2. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GAAATCTTTCGTGATAATCCT	0.433																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(3379-3381)aCg>aTg		ankyrin 3, node of Ranvier (ankyrin G)							108.0	109.0	109.0					10																	61848065		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61848065G>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.3380C>T	10.37:g.61848065G>A	ENSP00000280772:p.Thr1127Met					ANK3_ENST00000373827.2_Missense_Mutation_p.T1121M|ANK3_ENST00000355288.2_Missense_Mutation_p.T261M|ANK3_ENST00000503366.1_Missense_Mutation_p.T1128M	p.T1127M	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			29	3571	-			1127					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.3380C>T	CCDS7258.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.218208|5.218208	0.95104|0.95104	.|.	.|.	ENSG00000151150|ENSG00000151150	ENST00000467420|ENST00000280772;ENST00000373827;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000544789;ENST00000536348	.|T;T;T;T	.|0.74632	.|-0.5;-0.86;-0.86;-0.86	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.000000	.|0.43416	.|D	.|0.000572	.|D	.|0.89770	.|0.6811	M|M	0.89785|0.89785	3.06|3.06	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D	.|0.97110	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D	.|0.90263	.|0.4302	.|10	.|0.87932	.|D	.|0	.|.	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1128;261;660;1121;1127;362;261	.|E9PE32;A8KA62;Q59G01;Q5CZH9;Q12955;F5GXK0;B1AQT2	.|.;.;.;.;ANK3_HUMAN;.;.	X|M	185|1127;1121;261;261;1128;1107;362;762;762;260;660	.|ENSP00000280772:T1127M;ENSP00000362933:T1121M;ENSP00000347436:T261M;ENSP00000425236:T1128M	.|ENSP00000280772:T1127M	R|T	-|-	1|2	2|0	ANK3|ANK3	61518071|61518071	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.987000|0.987000	0.75469|0.75469	9.448000|9.448000	0.97600|0.97600	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CGA|ACG		0.433	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		36	53	0	0	0	1	0	36	53				
ADAM10	102	broad.mit.edu	37	15	58925526	58925526	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr15:58925526G>A	ENST00000260408.3	-	9	1488	c.1045C>T	c.(1045-1047)Ctc>Ttc	p.L349F	ADAM10_ENST00000402627.1_Missense_Mutation_p.L48F|ADAM10_ENST00000396140.2_Missense_Mutation_p.L48F|ADAM10_ENST00000561288.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	349	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell death (GO:0008219)|cell-cell signaling (GO:0007267)|collagen catabolic process (GO:0030574)|constitutive protein ectodomain proteolysis (GO:0051089)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|negative regulation of cell adhesion (GO:0007162)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell chemotaxis (GO:0010820)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|tetraspanin-enriched microdomain (GO:0097197)	endopeptidase activity (GO:0004175)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		TCTGAATAGAGTTTACTTTTT	0.368																																						ENST00000260408.3																			0				breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27						c.(1045-1047)Ctc>Ttc		ADAM metallopeptidase domain 10							100.0	99.0	99.0					15																	58925526		2192	4292	6484	SO:0001583	missense	102				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding	g.chr15:58925526G>A	AF009615	CCDS10167.1	15q2	2006-09-25	2005-08-18		ENSG00000137845	ENSG00000137845		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	188	protein-coding gene	gene with protein product		602192	"""a disintegrin and metalloproteinase domain 10"""			9344679, 9441766	Standard	XM_005254117		Approved	kuz, MADM, HsT18717, CD156c	uc002afd.1	O14672	OTTHUMG00000132633	ENST00000260408.3:c.1045C>T	15.37:g.58925526G>A	ENSP00000260408:p.Leu349Phe					ADAM10_ENST00000396140.2_Missense_Mutation_p.L48F|ADAM10_ENST00000402627.1_Missense_Mutation_p.L48F|ADAM10_ENST00000561288.1_Intron	p.L349F	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN		GBM - Glioblastoma multiforme(80;0.202)	9	1488	-			349			Peptidase M12B.		B4DU28|Q10742|Q92650	Missense_Mutation	SNP	ENST00000260408.3	37	c.1045C>T	CCDS10167.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.282014	0.40394	.	.	ENSG00000137845	ENST00000260408;ENST00000402627;ENST00000396136;ENST00000396140	D;D;D	0.86164	-2.08;-2.08;-2.08	5.72	4.79	0.61399	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.063140	0.64402	D	0.000006	T	0.77246	0.4102	N	0.17474	0.49	0.47183	D	0.99934	B;B	0.26120	0.142;0.033	B;B	0.32090	0.14;0.091	T	0.69840	-0.5036	10	0.12766	T	0.61	-10.5736	11.8433	0.52368	0.1466:0.0:0.8534:0.0	.	48;349	B4DU28;O14672	.;ADA10_HUMAN	F	349;48;168;48	ENSP00000260408:L349F;ENSP00000386056:L48F;ENSP00000379444:L48F	ENSP00000260408:L349F	L	-	1	0	ADAM10	56712818	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.448000	0.60027	1.386000	0.46466	0.655000	0.94253	CTC		0.368	ADAM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255880.2	NM_001110		17	46	0	0	0	1	0	17	46				
ETV6	2120	broad.mit.edu	37	12	12038866	12038866	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr12:12038866A>G	ENST00000396373.4	+	7	1433	c.1159A>G	c.(1159-1161)Aca>Gca	p.T387A		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	387					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein domain specific binding (GO:0019904)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				ACAGAACAGAACAAACATGAC	0.418			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""																																	ENST00000396373.4				Dom	yes		12	12p13	2120	T	ets variant gene 6 (TEL oncogene)			"""L, E, M"""	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""		"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1159-1161)Aca>Gca		ets variant 6							103.0	97.0	99.0					12																	12038866		2203	4300	6503	SO:0001583	missense	2120					cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:12038866A>G	BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083			3495	protein-coding gene	gene with protein product	"""TEL oncogene"""	600618	"""ets variant gene 6 (TEL oncogene)"""			7731705	Standard	NM_001987		Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.1159A>G	12.37:g.12038866A>G	ENSP00000379658:p.Thr387Ala						p.T387A	NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN			7	1433	+		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)	387					A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Missense_Mutation	SNP	ENST00000396373.4	37	c.1159A>G	CCDS8643.1	.	.	.	.	.	.	.	.	.	.	A	15.29	2.789628	0.50102	.	.	ENSG00000139083	ENST00000396373	T	0.13538	2.58	4.95	4.95	0.65309	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (5);	0.000000	0.85682	D	0.000000	T	0.09642	0.0237	N	0.11818	0.18	0.54753	D	0.999989	B	0.11235	0.004	B	0.25884	0.064	T	0.21655	-1.0239	10	0.30854	T	0.27	.	14.5783	0.68265	1.0:0.0:0.0:0.0	.	387	P41212	ETV6_HUMAN	A	387	ENSP00000379658:T387A	ENSP00000379658:T387A	T	+	1	0	ETV6	11930133	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.528000	0.60580	1.992000	0.58205	0.533000	0.62120	ACA		0.418	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400130.2	NM_001987		7	74	0	0	0	1	0	7	74				
LIMCH1	22998	broad.mit.edu	37	4	41682030	41682030	+	Frame_Shift_Del	DEL	A	A	-			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr4:41682030delA	ENST00000313860.7	+	19	2429	c.2375delA	c.(2374-2376)tacfs	p.Y792fs	LIMCH1_ENST00000381753.4_Frame_Shift_Del_p.Y625fs|LIMCH1_ENST00000509277.1_Frame_Shift_Del_p.Y625fs|LIMCH1_ENST00000508501.1_Frame_Shift_Del_p.Y791fs|LIMCH1_ENST00000512820.1_Frame_Shift_Del_p.Y804fs|LIMCH1_ENST00000396595.3_Frame_Shift_Del_p.Y637fs|LIMCH1_ENST00000514096.1_Frame_Shift_Del_p.Y632fs|LIMCH1_ENST00000512946.1_Frame_Shift_Del_p.Y792fs|LIMCH1_ENST00000513024.1_Frame_Shift_Del_p.Y645fs|LIMCH1_ENST00000503057.1_Frame_Shift_Del_p.Y1176fs|LIMCH1_ENST00000511496.1_Frame_Shift_Del_p.Y632fs|LIMCH1_ENST00000512632.1_Frame_Shift_Del_p.Y715fs	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	792	Glu-rich.				actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CAGGAGAGATACCAGAAGGAG	0.448																																						ENST00000313860.7																			0				central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						c.(2374-2376)tcfs		LIM and calponin homology domains 1							105.0	87.0	93.0					4																	41682030		2202	4300	6502	SO:0001589	frameshift_variant	22998				actomyosin structure organization		actin binding|zinc ion binding	g.chr4:41682030delA	AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.2375delA	4.37:g.41682030delA	ENSP00000316891:p.Tyr792fs					LIMCH1_ENST00000509277.1_Frame_Shift_Del_p.Y625fs|LIMCH1_ENST00000512946.1_Frame_Shift_Del_p.Y792fs|LIMCH1_ENST00000396595.3_Frame_Shift_Del_p.Y637fs|LIMCH1_ENST00000512820.1_Frame_Shift_Del_p.Y804fs|LIMCH1_ENST00000381753.4_Frame_Shift_Del_p.Y625fs|LIMCH1_ENST00000514096.1_Frame_Shift_Del_p.Y632fs|LIMCH1_ENST00000513024.1_Frame_Shift_Del_p.Y645fs|LIMCH1_ENST00000503057.1_Frame_Shift_Del_p.Y1176fs|LIMCH1_ENST00000512632.1_Frame_Shift_Del_p.Y715fs|LIMCH1_ENST00000511496.1_Frame_Shift_Del_p.Y632fs|LIMCH1_ENST00000508501.1_Frame_Shift_Del_p.Y791fs	p.Y792fs	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN			19	2429	+			792			Glu-rich.		A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Frame_Shift_Del	DEL	ENST00000313860.7	37	c.2375delA	CCDS33977.1																																																																																				0.448	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988		2	4						2	4	---	---	---	---
SP8	221833	broad.mit.edu	37	7	20824941	20824943	+	In_Frame_Del	DEL	GCC	GCC	-	rs372591893	byFrequency	TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr7:20824941_20824943delGCC	ENST00000361443.4	-	3	676_678	c.439_441delGGC	c.(439-441)ggcdel	p.G147del	SP8_ENST00000418710.2_In_Frame_Del_p.G165del	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	147					dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G165delG(1)|p.G147delG(1)		NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						GCGCGGAGGAgccgccgccgccg	0.729														461	0.0920527	0.0098	0.1124	5008	,	,		5525	0.002		0.2664	False		,,,				2504	0.1022					ENST00000361443.4																			2	Deletion - In frame(2)	p.G165delG(1)|p.G147delG(1)	central_nervous_system(2)	NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(439-441)del		Sp8 transcription factor			,	50,654		19,12,321					,	0.5	0.3			2	602,1424		217,168,628	no	coding,coding	SP8	NM_198956.2,NM_182700.4	,	236,180,949	A1A1,A1R,RR		29.7137,7.1023,23.8828	,	,		652,2078				SO:0001651	inframe_deletion	221833				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:20824941_20824943delGCC		CCDS5372.1, CCDS43555.1	7p21.2	2013-01-08			ENSG00000164651	ENSG00000164651		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	19196	protein-coding gene	gene with protein product		608306					Standard	NM_182700		Approved		uc003suz.3	Q8IXZ3	OTTHUMG00000094788	ENST00000361443.4:c.439_441delGGC	7.37:g.20824950_20824952delGCC	ENSP00000354482:p.Gly147del					SP8_ENST00000418710.2_In_Frame_Del_p.G165del	p.G147del	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN			3	676_678	-			147					Q7Z615|Q7Z616|Q96MJ1	In_Frame_Del	DEL	ENST00000361443.4	37	c.439_441delGGC	CCDS5372.1																																																																																				0.729	SP8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326904.2			5	3						5	3	---	---	---	---
CREB3L2	64764	broad.mit.edu	37	7	137569752	137569752	+	Frame_Shift_Del	DEL	G	G	-			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr7:137569752delG	ENST00000330387.6	-	10	1610	c.1259delC	c.(1258-1260)acafs	p.T420fs	CREB3L2_ENST00000456390.1_Frame_Shift_Del_p.T420fs	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	420					cartilage development (GO:0051216)|chondrocyte differentiation (GO:0002062)|ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of transcription, DNA-templated (GO:0045893)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cAMP response element binding (GO:0035497)|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 positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						CACGGAGGCTGTGTAGGGCTC	0.532			T	FUS	fibromyxoid sarcoma																																	ENST00000330387.6				Dom	yes		7	7q34	64764	T	cAMP responsive element binding protein 3-like 2			M	FUS		fibromyxoid sarcoma	FUS/CREB3L2(158)	0				breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(1258-1260)aafs		cAMP responsive element binding protein 3-like 2							87.0	82.0	84.0					7																	137569752		2203	4300	6503	SO:0001589	frameshift_variant	64764				chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:137569752delG	AJ549092	CCDS34760.1, CCDS59083.1	7q34	2013-01-10			ENSG00000182158	ENSG00000182158		"""basic leucine zipper proteins"""	23720	protein-coding gene	gene with protein product		608834					Standard	NM_194071		Approved	BBF2H7, TCAG_1951439	uc003vtw.3	Q70SY1	OTTHUMG00000155744	ENST00000330387.6:c.1259delC	7.37:g.137569752delG	ENSP00000329140:p.Thr420fs					CREB3L2_ENST00000456390.1_Frame_Shift_Del_p.T420fs	p.T420fs	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN			10	1610	-			420					Q6P454|Q6ZMR6	Frame_Shift_Del	DEL	ENST00000330387.6	37	c.1259delC	CCDS34760.1																																																																																				0.532	CREB3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341462.1	NM_194071		16	71						16	71	---	---	---	---
ZNF408	79797	broad.mit.edu	37	11	46727386	46727386	+	Frame_Shift_Del	DEL	G	G	-			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr11:46727386delG	ENST00000311764.2	+	5	2366	c.2136delG	c.(2134-2136)gagfs	p.E712fs		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	712					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCTGGGCAGAGGTGGTGGAGG	0.572																																					Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)	ENST00000311764.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(2134-2136)gafs		zinc finger protein 408							25.0	25.0	25.0					11																	46727386		2201	4299	6500	SO:0001589	frameshift_variant	79797				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding	g.chr11:46727386delG	AF346626	CCDS7923.1	11p11.2	2008-02-05			ENSG00000175213	ENSG00000175213		"""Zinc fingers, C2H2-type"""	20041	protein-coding gene	gene with protein product						15231747	Standard	NM_024741		Approved	FLJ12827	uc010rgw.2	Q9H9D4	OTTHUMG00000166568	ENST00000311764.2:c.2136delG	11.37:g.46727386delG	ENSP00000309606:p.Glu712fs						p.E712fs	NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN			5	2366	+			712						Frame_Shift_Del	DEL	ENST00000311764.2	37	c.2136delG	CCDS7923.1																																																																																				0.572	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390485.2	NM_024741		2	4						2	4	---	---	---	---
ZNF568	374900	broad.mit.edu	37	19	37487845	37487845	+	Frame_Shift_Del	DEL	A	A	-			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr19:37487845delA	ENST00000455427.2	+	9	1389	c.1060delA	c.(1060-1062)actfs	p.T354fs		NM_001204839.1	NP_001191768.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	385					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAGGATCCATACTGATGAGAA	0.468																																						ENST00000455427.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29						c.(1060-1062)ctfs		zinc finger protein 568																																				SO:0001589	frameshift_variant	374900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37487845delA	BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"""Zinc fingers, C2H2-type"", ""-"""	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000455427.2:c.1060delA	19.37:g.37487845delA	ENSP00000413396:p.Thr354fs						p.T354fs	NM_001204839.1	NP_001191768.1	Q3ZCX4	ZN568_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		9	1389	+	Esophageal squamous(110;0.183)		441					B4DS92|E7ER33|Q6N060|Q8NA64	Frame_Shift_Del	DEL	ENST00000455427.2	37	c.1060delA	CCDS56093.1																																																																																				0.468	ZNF568-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000457465.1	NM_198539		2	4						2	4	---	---	---	---
SLC38A5	92745	broad.mit.edu	37	X	48317961	48317961	+	Frame_Shift_Del	DEL	G	G	-			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chrX:48317961delG	ENST00000376876.3	-	15	2121	c.1278delC	c.(1276-1278)cccfs	p.P426fs	SLC38A5_ENST00000376875.1_Frame_Shift_Del_p.P375fs|SLC38A5_ENST00000317669.5_Frame_Shift_Del_p.P426fs|SLC38A5_ENST00000480105.1_5'UTR			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	426					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)			breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						CCACCTCAGAGGGTACAATGC	0.567																																						ENST00000376876.3																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						c.(1276-1278)ccfs		solute carrier family 38, member 5							61.0	51.0	54.0					X																	48317961		2202	4300	6502	SO:0001589	frameshift_variant	92745				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane		g.chrX:48317961delG	AF276889	CCDS14293.1	Xp11.23	2013-05-22			ENSG00000017483	ENSG00000017483		"""Solute carriers"""	18070	protein-coding gene	gene with protein product		300649				11243884	Standard	NM_033518		Approved	SN2, JM24	uc010nid.3	Q8WUX1	OTTHUMG00000024117	ENST00000376876.3:c.1278delC	X.37:g.48317961delG	ENSP00000366073:p.Pro426fs					SLC38A5_ENST00000480105.1_5'UTR|SLC38A5_ENST00000376875.1_Frame_Shift_Del_p.P375fs|SLC38A5_ENST00000317669.5_Frame_Shift_Del_p.P426fs	p.P426fs			Q8WUX1	S38A5_HUMAN			15	2121	-			426					B3KT20|B5MDE6|B7WPJ9|Q6PIW9|Q8WYU2|Q96PQ4	Frame_Shift_Del	DEL	ENST00000376876.3	37	c.1278delC	CCDS14293.1																																																																																				0.567	SLC38A5-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060724.1	NM_033518		2	4						2	4	---	---	---	---
