#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
TUBB1	81027	broad.mit.edu	37	20	57599431	57599431	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr20:57599431T>C	ENST00000217133.1	+	4	1218	c.949T>C	c.(949-951)Ttc>Ctc	p.F317L		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	317					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	GGCCTGCATTTTCCGGGGCAA	0.597																																						ENST00000217133.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16						c.(949-951)Ttc>Ctc		tubulin, beta 1 class VI	Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)						58.0	49.0	52.0					20																	57599431		2203	4300	6503	SO:0001583	missense	81027				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity	g.chr20:57599431T>C	AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162		"""Tubulins"""	16257	protein-coding gene	gene with protein product	"""class VI beta-tubulin"""	612901	"""tubulin, beta 1"""				Standard	NM_030773		Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.949T>C	20.37:g.57599431T>C	ENSP00000217133:p.Phe317Leu						p.F317L	NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	Colorectal(105;0.109)		4	1218	+	all_lung(29;0.00711)		317						Missense_Mutation	SNP	ENST00000217133.1	37	c.949T>C	CCDS13475.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.882745	0.91740	.	.	ENSG00000101162	ENST00000217133	T	0.81163	-1.46	5.34	5.34	0.76211	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.042833	0.85682	D	0.000000	D	0.89178	0.6641	H	0.97516	4.02	0.80722	D	1	P	0.50943	0.94	P	0.45946	0.498	D	0.92694	0.6169	10	0.87932	D	0	.	14.4727	0.67526	0.0:0.0:0.0:1.0	.	317	Q9H4B7	TBB1_HUMAN	L	317	ENSP00000217133:F317L	ENSP00000217133:F317L	F	+	1	0	TUBB1	57032826	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.040000	0.89188	2.028000	0.59812	0.459000	0.35465	TTC		0.597	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079903.1	NM_030773		5	54	0	0	0	1	0	5	54				
LAMB4	22798	broad.mit.edu	37	7	107707040	107707040	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr7:107707040G>C	ENST00000388781.3	-	20	2535	c.2452C>G	c.(2452-2454)Cac>Gac	p.H818D	LAMB4_ENST00000205386.4_Missense_Mutation_p.H818D|LAMB4_ENST00000388780.3_Missense_Mutation_p.H818D	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	818	Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GGATGGCAGTGACATGCTGGA	0.527																																						ENST00000388781.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						c.(2452-2454)Cac>Gac		laminin, beta 4							36.0	34.0	35.0					7																	107707040		2203	4300	6503	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107707040G>C	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.2452C>G	7.37:g.107707040G>C	ENSP00000373433:p.His818Asp					LAMB4_ENST00000205386.4_Missense_Mutation_p.H818D|LAMB4_ENST00000388780.3_Missense_Mutation_p.H818D	p.H818D	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN			20	2535	-			818			Laminin EGF-like 7.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.2452C>G	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	G	7.034	0.561284	0.13498	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780	T;T;T	0.59772	0.24;0.24;0.24	4.98	1.91	0.25777	EGF-like, laminin (4);	0.762999	0.11520	N	0.555806	T	0.19604	0.0471	N	0.00462	-1.47	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.36744	-0.9735	10	0.02654	T	1	.	10.5631	0.45156	0.0:0.5693:0.3115:0.1192	.	818	A4D0S4	LAMB4_HUMAN	D	818	ENSP00000205386:H818D;ENSP00000373433:H818D;ENSP00000373432:H818D	ENSP00000205386:H818D	H	-	1	0	LAMB4	107494276	0.998000	0.40836	1.000000	0.80357	0.947000	0.59692	0.699000	0.25586	0.638000	0.30545	0.563000	0.77884	CAC		0.527	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		3	16	0	0	0	1	0	3	16				
ERICH3	127254	broad.mit.edu	37	1	75055746	75055746	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:75055746G>T	ENST00000326665.5	-	12	1963	c.1745C>A	c.(1744-1746)tCa>tAa	p.S582*	C1orf173_ENST00000420661.2_Nonsense_Mutation_p.S385*|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		582	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GGATGAGGTTGATGAAGCAGT	0.383																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(1744-1746)tCa>tAa		chromosome 1 open reading frame 173							36.0	32.0	34.0					1																	75055746		2203	4300	6503	SO:0001587	stop_gained	127254							g.chr1:75055746G>T																												ENST00000326665.5:c.1745C>A	1.37:g.75055746G>T	ENSP00000322609:p.Ser582*					RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Nonsense_Mutation_p.S385*	p.S582*	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			12	1963	-			582			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Nonsense_Mutation	SNP	ENST00000326665.5	37	c.1745C>A	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943680	0.73672	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	.	.	.	5.12	4.16	0.48862	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.0873	8.7661	0.34704	0.1125:0.0:0.8875:0.0	.	.	.	.	X	582;385	.	ENSP00000322609:S582X	S	-	2	0	C1orf173	74828334	0.363000	0.24989	0.007000	0.13788	0.003000	0.03518	3.574000	0.53863	1.060000	0.40578	-0.402000	0.06365	TCA		0.383	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			9	11	1	0	1.12685e-05	1	1.1743e-05	9	11				
PCDH18	54510	broad.mit.edu	37	4	138451204	138451204	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr4:138451204G>A	ENST00000344876.4	-	1	2425	c.2039C>T	c.(2038-2040)gCa>gTa	p.A680V	PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.A460V|PCDH18_ENST00000412923.2_Missense_Mutation_p.A680V	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	680	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CACCGACTCTGCATATTCAAA	0.428																																						ENST00000344876.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(2038-2040)gCa>gTa		protocadherin 18							165.0	157.0	160.0					4																	138451204		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138451204G>A	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.2039C>T	4.37:g.138451204G>A	ENSP00000355082:p.Ala680Val					PCDH18_ENST00000412923.2_Missense_Mutation_p.A680V|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.A460V	p.A680V	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN			1	2425	-	all_hematologic(180;0.24)		680			Cadherin 6.		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.2039C>T	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	G	0.960	-0.703589	0.03255	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.55052	0.65;0.64;0.54	5.53	4.62	0.57501	Cadherin (2);	0.396081	0.18260	N	0.146664	T	0.24392	0.0591	N	0.04880	-0.145	0.43902	D	0.99653	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.002;0.0	T	0.25187	-1.0139	10	0.12430	T	0.62	.	4.6035	0.12364	0.2647:0.0:0.7353:0.0	.	460;680;680	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	V	680;680;460	ENSP00000355082:A680V;ENSP00000390688:A680V;ENSP00000425903:A460V	ENSP00000355082:A680V	A	-	2	0	PCDH18	138670654	1.000000	0.71417	0.658000	0.29665	0.982000	0.71751	4.954000	0.63631	2.871000	0.98454	0.655000	0.94253	GCA		0.428	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		31	104	0	0	0	1	0	31	104				
AFF2	2334	broad.mit.edu	37	X	148048585	148048585	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chrX:148048585G>T	ENST00000370460.2	+	14	3658	c.3179G>T	c.(3178-3180)aGa>aTa	p.R1060I	AFF2_ENST00000286437.5_Missense_Mutation_p.R701I|AFF2_ENST00000342251.3_Missense_Mutation_p.R1027I|AFF2_ENST00000370457.5_Missense_Mutation_p.R1025I	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1060					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AATGTCCGGAGACCCAAGCTC	0.522																																						ENST00000370460.2																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(3178-3180)aGa>aTa		AF4/FMR2 family, member 2							205.0	170.0	182.0					X																	148048585		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148048585G>T	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.3179G>T	X.37:g.148048585G>T	ENSP00000359489:p.Arg1060Ile					AFF2_ENST00000286437.5_Missense_Mutation_p.R701I|AFF2_ENST00000342251.3_Missense_Mutation_p.R1027I|AFF2_ENST00000370457.5_Missense_Mutation_p.R1025I	p.R1060I	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			14	3658	+	Acute lymphoblastic leukemia(192;6.56e-05)		1060					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.3179G>T	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.017102	0.93404	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55	5.57	5.57	0.84162	.	0.216563	0.39544	N	0.001329	D	0.85852	0.5793	M	0.83118	2.625	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.997;0.997;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.998;0.996;0.994;0.999;0.999;0.999	D	0.87894	0.2686	10	0.87932	D	0	.	18.1304	0.89599	0.0:0.0:1.0:0.0	.	701;1025;1025;1021;1050;1060	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	I	1060;1025;1027;701	ENSP00000359489:R1060I;ENSP00000359486:R1025I;ENSP00000345459:R1027I;ENSP00000286437:R701I	ENSP00000286437:R701I	R	+	2	0	AFF2	147856279	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.596000	0.90844	2.325000	0.78763	0.513000	0.50165	AGA		0.522	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		35	228	1	0	3.62531e-18	1	4.18956e-18	35	228				
GDAP1L1	78997	broad.mit.edu	37	20	42891917	42891917	+	Missense_Mutation	SNP	G	G	A	rs111998272	byFrequency	TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr20:42891917G>A	ENST00000342560.5	+	4	683	c.595G>A	c.(595-597)Gag>Aag	p.E199K	GDAP1L1_ENST00000537864.1_Missense_Mutation_p.E7K	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	199	GST C-terminal.									endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGACCATGAAGAGGAGCCCCA	0.552													G|||	24	0.00479233	0.0	0.0043	5008	,	,		17108	0.0		0.0169	False		,,,				2504	0.0041					ENST00000342560.5																			0				endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18						c.(595-597)Gag>Aag		ganglioside induced differentiation associated protein 1-like 1		G	LYS/GLU	16,4390	22.3+/-47.3	0,16,2187	229.0	226.0	227.0		595	5.2	1.0	20	dbSNP_132	227	96,8504	53.1+/-113.8	1,94,4205	yes	missense	GDAP1L1	NM_024034.3	56	1,110,6392	AA,AG,GG		1.1163,0.3631,0.8611	benign	199/368	42891917	112,12894	2203	4300	6503	SO:0001583	missense	78997							g.chr20:42891917G>A		CCDS13328.1, CCDS74725.1, CCDS74726.1, CCDS74727.1	20q12	2012-02-09	2012-02-09		ENSG00000124194	ENSG00000124194			4213	protein-coding gene	gene with protein product							Standard	NM_024034		Approved		uc010zwl.3	Q96MZ0	OTTHUMG00000032530	ENST00000342560.5:c.595G>A	20.37:g.42891917G>A	ENSP00000341782:p.Glu199Lys					GDAP1L1_ENST00000537864.1_Missense_Mutation_p.E7K	p.E199K	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		4	683	+		Myeloproliferative disorder(115;0.0122)	199			GST C-terminal.		B7Z621|Q5TE60|Q68CW7|Q9BQJ7|Q9BQV4|Q9BWJ4|Q9H3Y2|Q9H4G5	Missense_Mutation	SNP	ENST00000342560.5	37	c.595G>A	CCDS13328.1	18|18	0.008241758241758242|0.008241758241758242	0|0	0.0|0.0	2|2	0.0055248618784530384|0.0055248618784530384	0|0	0.0|0.0	16|16	0.021108179419525065|0.021108179419525065	G|G	21.5|21.5	4.162844|4.162844	0.78226|0.78226	0.003631|0.003631	0.011163|0.011163	ENSG00000124194|ENSG00000124194	ENST00000342560;ENST00000372947;ENST00000372946;ENST00000545149;ENST00000438466;ENST00000537864|ENST00000445952	D;D;D|.	0.99032|.	-5.35;-4.87;-4.64|.	5.23|5.23	5.23|5.23	0.72850|0.72850	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);|.	0.048636|.	0.85682|.	D|.	0.000000|.	T|T	0.37433|0.37433	0.1003|0.1003	N|N	0.17631|0.17631	0.505|0.505	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.12630|.	0.0;0.002;0.0;0.006|.	B;B;B;B|.	0.10450|.	0.0;0.002;0.001;0.005|.	T|T	0.39820|0.39820	-0.9595|-0.9595	10|5	0.32370|.	T|.	0.25|.	.|.	18.7855|18.7855	0.91952|0.91952	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	141;218;199;145|.	B7Z1I3;B7Z621;Q96MZ0;Q5JY50|.	.;.;GD1L1_HUMAN;.|.	K|K	199;196;141;167;141;7|145	ENSP00000341782:E199K;ENSP00000392881:E141K;ENSP00000440498:E7K|.	ENSP00000341782:E199K|.	E|R	+|+	1|2	0|0	GDAP1L1|GDAP1L1	42325331|42325331	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	8.437000|8.437000	0.90302|0.90302	2.447000|2.447000	0.82792|0.82792	0.543000|0.543000	0.68304|0.68304	GAG|AGA		0.552	GDAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079356.1	NM_024034		13	257	0	0	0	1	0	13	257				
GPR125	166647	broad.mit.edu	37	4	22389445	22389445	+	Silent	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr4:22389445G>C	ENST00000334304.5	-	19	4118	c.3849C>G	c.(3847-3849)ctC>ctG	p.L1283L	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1283					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TGGCCAAGTTGAGGCCATAAG	0.433																																						ENST00000334304.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(3847-3849)ctC>ctG		G protein-coupled receptor 125							92.0	90.0	91.0					4																	22389445		2203	4300	6503	SO:0001819	synonymous_variant	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22389445G>C	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.3849C>G	4.37:g.22389445G>C						GPR125_ENST00000282943.5_5'UTR	p.L1283L	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			19	4118	-		Breast(46;0.198)	1283					Q6UXK9|Q86SQ5|Q8TC55	Silent	SNP	ENST00000334304.5	37	c.3849C>G	CCDS33964.1																																																																																				0.433	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			7	45	0	0	0	1	0	7	45				
TMEM180	79847	broad.mit.edu	37	10	104233349	104233349	+	Silent	SNP	T	T	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr10:104233349T>C	ENST00000238936.4	+	8	1185	c.948T>C	c.(946-948)caT>caC	p.H316H	TMEM180_ENST00000366277.2_Silent_p.H45H	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	316						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TCGCTCCCCATCTCAACAACC	0.632																																						ENST00000238936.4																			0				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13						c.(946-948)caT>caC		transmembrane protein 180							146.0	145.0	146.0					10																	104233349		2203	4300	6503	SO:0001819	synonymous_variant	79847					integral to membrane		g.chr10:104233349T>C	AK026182	CCDS7535.1	10q24.32	2011-02-09	2006-10-12	2006-10-12	ENSG00000138111	ENSG00000138111			26196	protein-coding gene	gene with protein product				C10orf77		12477932	Standard	XM_006717971		Approved	FLJ22529, bA18I14.8	uc001kvt.3	Q14CX5	OTTHUMG00000018961	ENST00000238936.4:c.948T>C	10.37:g.104233349T>C						TMEM180_ENST00000366277.2_Silent_p.H45H	p.H316H	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	8	1185	+		Colorectal(252;0.122)	316					Q6NWM8|Q6NWM9|Q6PEZ7|Q9H679	Silent	SNP	ENST00000238936.4	37	c.948T>C	CCDS7535.1																																																																																				0.632	TMEM180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050075.2	NM_024789		38	148	0	0	0	1	0	38	148				
SPEN	23013	broad.mit.edu	37	1	16255478	16255478	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:16255478C>T	ENST00000375759.3	+	11	2947	c.2743C>T	c.(2743-2745)Cag>Tag	p.Q915*		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	915					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGCCCTGGACCAGAAACTTCA	0.443																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(2743-2745)Cag>Tag		spen family transcriptional repressor							156.0	172.0	167.0					1																	16255478		2203	4300	6503	SO:0001587	stop_gained	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16255478C>T		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.2743C>T	1.37:g.16255478C>T	ENSP00000364912:p.Gln915*						p.Q915*	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	2947	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	915					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Nonsense_Mutation	SNP	ENST00000375759.3	37	c.2743C>T	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	38	6.829600	0.97869	.	.	ENSG00000065526	ENST00000375759	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-8.1826	17.9082	0.88926	0.0:1.0:0.0:0.0	.	.	.	.	X	915	.	ENSP00000364912:Q915X	Q	+	1	0	SPEN	16128065	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	4.958000	0.63660	2.700000	0.92200	0.655000	0.94253	CAG		0.443	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		16	229	0	0	0	1	0	16	229				
EGFL8	80864	broad.mit.edu	37	6	32134035	32134035	+	Silent	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:32134035C>T	ENST00000395512.1	+	2	198	c.93C>T	c.(91-93)ctC>ctT	p.L31L	AGPAT1_ENST00000490711.1_5'Flank|PPT2-EGFL8_ENST00000422437.1_Intron|PPT2-EGFL8_ENST00000453656.2_3'UTR|EGFL8_ENST00000333845.6_Silent_p.L31L			Q99944	EGFL8_HUMAN	EGF-like-domain, multiple 8	31						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						GTGGATCCCTCAGAGAGAGGT	0.592																																						ENST00000395512.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						c.(91-93)ctC>ctT		EGF-like-domain, multiple 8							46.0	42.0	43.0					6																	32134035		2203	4300	6503	SO:0001819	synonymous_variant	80864					extracellular region|integral to membrane	calcium ion binding	g.chr6:32134035C>T	U89336	CCDS4743.1	6p21	2010-06-25	2003-05-21	2003-05-23	ENSG00000241404	ENSG00000241404			13944	protein-coding gene	gene with protein product		609897	"""chromosome 6 open reading frame 8"""	C6orf8			Standard	NM_030652		Approved	NG3		Q99944	OTTHUMG00000031222	ENST00000395512.1:c.93C>T	6.37:g.32134035C>T						PPT2-EGFL8_ENST00000453656.2_3'UTR|EGFL8_ENST00000333845.6_Silent_p.L31L|PPT2-EGFL8_ENST00000422437.1_Intron	p.L31L			Q99944	EGFL8_HUMAN			2	198	+			31					B0S884|G5E9Q0|Q5JP23|Q5SSX3|Q8IV30	Silent	SNP	ENST00000395512.1	37	c.93C>T	CCDS4743.1																																																																																				0.592	EGFL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076463.3	NM_030652		7	38	0	0	0	1	0	7	38				
KPNA4	3840	broad.mit.edu	37	3	160245808	160245808	+	Silent	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr3:160245808C>G	ENST00000334256.4	-	8	794	c.489G>C	c.(487-489)ctG>ctC	p.L163L		NM_002268.4	NP_002259.1	O00629	IMA3_HUMAN	karyopherin alpha 4 (importin alpha 3)	163	NLS binding site (major). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			GGAGAAGCCTCAGGAAAAGTG	0.358																																						ENST00000334256.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22						c.(487-489)ctG>ctC		karyopherin alpha 4 (importin alpha 3)							60.0	63.0	62.0					3																	160245808		2203	4300	6503	SO:0001819	synonymous_variant	3840				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding	g.chr3:160245808C>G	AB002533	CCDS3191.1	3q25.33	2013-02-14			ENSG00000186432	ENSG00000186432		"""Importins"", ""Armadillo repeat containing"""	6397	protein-coding gene	gene with protein product		602970				9168958, 9395085	Standard	NM_002268		Approved	QIP1, SRP3, IPOA3, MGC12217, MGC26703	uc003fdn.3	O00629	OTTHUMG00000159033	ENST00000334256.4:c.489G>C	3.37:g.160245808C>G							p.L163L	NM_002268.4	NP_002259.1	O00629	IMA4_HUMAN	Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)		8	794	-			163			NLS binding site (major) (By similarity).		A8K4S6|D3DNM2|O00190	Silent	SNP	ENST00000334256.4	37	c.489G>C	CCDS3191.1																																																																																				0.358	KPNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352960.1	NM_002268		10	28	0	0	0	1	0	10	28				
SIM1	6492	broad.mit.edu	37	6	100838251	100838251	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:100838251T>C	ENST00000369208.3	-	12	3069	c.2287A>G	c.(2287-2289)Acc>Gcc	p.T763A	SIM1_ENST00000262901.4_Missense_Mutation_p.T763A			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	763	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CTTCCGTTGGTTATTATAACA	0.393																																						ENST00000369208.3																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79						c.(2287-2289)Acc>Gcc		single-minded family bHLH transcription factor 1							135.0	134.0	134.0					6																	100838251		2203	4300	6503	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100838251T>C	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.2287A>G	6.37:g.100838251T>C	ENSP00000358210:p.Thr763Ala					SIM1_ENST00000262901.4_Missense_Mutation_p.T763A	p.T763A			P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	12	3069	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	763			Single-minded C-terminal.		Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.2287A>G	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	T	14.78	2.636568	0.47049	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.04317	3.65;3.65	6.1	6.1	0.99115	Single-minded, C-terminal (1);	0.042645	0.85682	D	0.000000	T	0.01730	0.0055	N	0.24115	0.695	0.54753	D	0.999986	B	0.26363	0.147	B	0.25405	0.06	T	0.52555	-0.8560	10	0.13853	T	0.58	.	16.686	0.85306	0.0:0.0:0.0:1.0	.	763	P81133	SIM1_HUMAN	A	763	ENSP00000358210:T763A;ENSP00000262901:T763A	ENSP00000262901:T763A	T	-	1	0	SIM1	100944972	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.853000	0.69496	2.340000	0.79590	0.528000	0.53228	ACC		0.393	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		17	56	0	0	0	1	0	17	56				
TUBGCP5	114791	broad.mit.edu	37	15	22855171	22855171	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr15:22855171G>T	ENST00000283645.4	+	13	1762	c.1632G>T	c.(1630-1632)agG>agT	p.R544S	TUBGCP5_ENST00000559846.1_3'UTR|TUBGCP5_ENST00000453949.2_Missense_Mutation_p.R544S	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	544					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		CCTCCAGCAGGCAGCACACCA	0.502																																						ENST00000283645.4																			0				breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46						c.(1630-1632)agG>agT		tubulin, gamma complex associated protein 5							76.0	71.0	73.0					15																	22855171		2203	4300	6503	SO:0001583	missense	114791				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr15:22855171G>T	AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"""gamma-tubulin complex component GCP5"""	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.1632G>T	15.37:g.22855171G>T	ENSP00000283645:p.Arg544Ser					TUBGCP5_ENST00000559846.1_3'UTR|TUBGCP5_ENST00000453949.2_Missense_Mutation_p.R544S	p.R544S	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)	13	1762	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	544					E9PB12|Q6IQ52|Q96PY8	Missense_Mutation	SNP	ENST00000283645.4	37	c.1632G>T	CCDS10008.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.685591	0.68157	.	.	ENSG00000153575	ENST00000283645;ENST00000453949	T;T	0.25414	1.8;1.8	4.88	-0.197	0.13228	.	0.000000	0.85682	D	0.000000	T	0.28234	0.0697	L	0.45581	1.43	0.58432	D	0.999994	D;D;D	0.54397	0.966;0.966;0.966	P;P;P	0.56960	0.81;0.81;0.81	T	0.28364	-1.0046	10	0.06236	T	0.91	-19.057	11.0577	0.47929	0.4135:0.0:0.5865:0.0	.	544;544;544	A8K1E4;Q96RT8;E9PB12	.;GCP5_HUMAN;.	S	544	ENSP00000283645:R544S;ENSP00000409217:R544S	ENSP00000283645:R544S	R	+	3	2	TUBGCP5	20406612	1.000000	0.71417	0.974000	0.42286	0.989000	0.77384	1.506000	0.35747	0.074000	0.16767	-0.150000	0.13652	AGG		0.502	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250998.2	NM_052903		19	48	1	0	1.33834e-09	1	1.46674e-09	19	48				
PYGO1	26108	broad.mit.edu	37	15	55838669	55838669	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr15:55838669A>G	ENST00000302000.6	-	3	906	c.812T>C	c.(811-813)aTt>aCt	p.I271T	PYGO1_ENST00000563719.1_Missense_Mutation_p.I271T	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	271	Asn-rich.				hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|spermatid nucleus differentiation (GO:0007289)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		TTTTAATTCAATATTACTCTG	0.383																																						ENST00000302000.6																			0				endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27						c.(811-813)aTt>aCt		pygopus family PHD finger 1							194.0	196.0	195.0					15																	55838669		2193	4292	6485	SO:0001583	missense	26108				Wnt receptor signaling pathway	nucleus	zinc ion binding	g.chr15:55838669A>G	AF457207	CCDS10155.1	15q21.1	2013-10-09	2013-10-09		ENSG00000171016	ENSG00000171016		"""Zinc fingers, PHD-type"""	30256	protein-coding gene	gene with protein product		606902	"""pygopus homolog 1 (Drosophila)"""			11988739	Standard	NM_015617		Approved		uc002adf.1	Q9Y3Y4	OTTHUMG00000132009	ENST00000302000.6:c.812T>C	15.37:g.55838669A>G	ENSP00000302327:p.Ile271Thr					PYGO1_ENST00000563719.1_Missense_Mutation_p.I271T	p.I271T	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN		all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)	3	906	-			271			Asn-rich.		A7Y2D6	Missense_Mutation	SNP	ENST00000302000.6	37	c.812T>C	CCDS10155.1	.	.	.	.	.	.	.	.	.	.	A	1.871	-0.460278	0.04508	.	.	ENSG00000171016	ENST00000302000;ENST00000401688	T	0.42131	0.98	5.0	2.7	0.31948	.	0.569262	0.17897	N	0.158312	T	0.15825	0.0381	N	0.08118	0	0.23107	N	0.998287	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17349	-1.0372	10	0.10111	T	0.7	-6.3078	1.6331	0.02737	0.557:0.1435:0.1611:0.1384	.	271;271	A7Y2D6;Q9Y3Y4	.;PYGO1_HUMAN	T	271	ENSP00000302327:I271T	ENSP00000302327:I271T	I	-	2	0	PYGO1	53625961	0.000000	0.05858	0.997000	0.53966	0.992000	0.81027	0.185000	0.16958	0.877000	0.35895	0.482000	0.46254	ATT		0.383	PYGO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254977.2	NM_015617		24	80	0	0	0	1	0	24	80				
ABCA7	10347	broad.mit.edu	37	19	1053787	1053787	+	Splice_Site	SNP	A	A	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr19:1053787A>T	ENST00000263094.6	+	25	3655	c.3424A>T	c.(3424-3426)Atc>Ttc	p.I1142F	ABCA7_ENST00000433129.1_Splice_Site_p.I1142F|ABCA7_ENST00000435683.2_Splice_Site_p.I1004F	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1142					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCTCCCCAGATCTTCCTGAA	0.642																																						ENST00000263094.6																			0				NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.e25-1		ATP-binding cassette, sub-family A (ABC1), member 7							97.0	98.0	98.0					19																	1053787		2203	4300	6503	SO:0001630	splice_region_variant	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1053787A>T	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.3424-1A>T	19.37:g.1053787A>T						ABCA7_ENST00000433129.1_Splice_Site_p.I1142_splice|ABCA7_ENST00000435683.2_Splice_Site_p.I1004_splice	p.I1142_splice	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	25	3655	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	1142					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Splice_Site	SNP	ENST00000263094.6	37	c.3423_splice	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	A	16.06	3.014759	0.54468	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.88354	-2.37;-2.37	4.01	1.66	0.24008	.	.	.	.	.	D	0.92355	0.7574	M	0.84326	2.69	0.34441	D	0.699595	D;D	0.61697	0.99;0.983	D;P	0.66602	0.945;0.883	D	0.91230	0.5013	8	.	.	.	.	4.6803	0.12732	0.7009:0.1915:0.1076:0.0	.	1004;1142	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	F	1142	ENSP00000263094:I1142F;ENSP00000414062:I1142F	.	I	+	1	0	ABCA7	1004787	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	2.757000	0.47557	0.517000	0.28361	0.260000	0.18958	ATC		0.642	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112	Missense_Mutation	25	57	0	0	0	1	0	25	57				
PIK3CB	5291	broad.mit.edu	37	3	138433375	138433375	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr3:138433375T>C	ENST00000477593.1	-	8	1310	c.1237A>G	c.(1237-1239)Acg>Gcg	p.T413A	PIK3CB_ENST00000289153.2_Missense_Mutation_p.T413A|PIK3CB_ENST00000544716.1_5'Flank			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	413	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	GATTTCTTCGTTTTTACTTTA	0.318																																						ENST00000477593.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(1237-1239)Acg>Gcg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta							157.0	147.0	150.0					3																	138433375		2203	4300	6503	SO:0001583	missense	5291				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:138433375T>C		CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.1237A>G	3.37:g.138433375T>C	ENSP00000418143:p.Thr413Ala					PIK3CB_ENST00000289153.2_Missense_Mutation_p.T413A	p.T413A			P42338	PK3CB_HUMAN			8	1310	-			413			C2 PI3K-type.		D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	c.1237A>G	CCDS3104.1	.	.	.	.	.	.	.	.	.	.	T	13.62	2.290313	0.40494	.	.	ENSG00000051382	ENST00000477593;ENST00000289153	T;T	0.69926	-0.44;-0.44	5.61	5.61	0.85477	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (2);	0.229090	0.43416	D	0.000566	T	0.41534	0.1163	N	0.02011	-0.69	0.80722	D	1	B;B	0.10296	0.003;0.0	B;B	0.15052	0.012;0.002	T	0.36962	-0.9726	10	0.21014	T	0.42	-12.2416	16.0906	0.81088	0.0:0.0:0.0:1.0	.	413;17	P42338;B4DZI3	PK3CB_HUMAN;.	A	413	ENSP00000418143:T413A;ENSP00000289153:T413A	ENSP00000289153:T413A	T	-	1	0	PIK3CB	139916065	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	7.601000	0.82783	2.252000	0.74401	0.528000	0.53228	ACG		0.318	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			4	18	0	0	0	1	0	4	18				
CXorf66	347487	broad.mit.edu	37	X	139038258	139038258	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chrX:139038258G>T	ENST00000370540.1	-	3	906	c.883C>A	c.(883-885)Caa>Aaa	p.Q295K		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	295						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						TGTAGGTTTTGAGTGTTTTTC	0.388																																						ENST00000370540.1																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						c.(883-885)Caa>Aaa		chromosome X open reading frame 66							193.0	164.0	174.0					X																	139038258		2203	4300	6503	SO:0001583	missense	347487					integral to membrane		g.chrX:139038258G>T		CCDS35411.1	Xq27.1	2014-05-30			ENSG00000203933	ENSG00000203933			33743	protein-coding gene	gene with protein product	"""secreted glycoprotein, X-linked"""					24709545	Standard	NM_001013403		Approved	RP11-35F15.2, SGPX	uc004fbb.3	Q5JRM2	OTTHUMG00000022539	ENST00000370540.1:c.883C>A	X.37:g.139038258G>T	ENSP00000359571:p.Gln295Lys						p.Q295K	NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN			3	906	-			295						Missense_Mutation	SNP	ENST00000370540.1	37	c.883C>A	CCDS35411.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.410354	0.25465	.	.	ENSG00000203933	ENST00000370540	T	0.50277	0.75	3.95	-0.661	0.11417	.	1.265890	0.05899	N	0.629677	T	0.38026	0.1025	L	0.29908	0.895	0.09310	N	1	P	0.42584	0.784	B	0.43274	0.414	T	0.32693	-0.9897	9	.	.	.	-0.1666	7.8213	0.29290	0.0:0.4456:0.4043:0.1501	.	295	Q5JRM2	CX066_HUMAN	K	295	ENSP00000359571:Q295K	.	Q	-	1	0	CXorf66	138865924	0.004000	0.15560	0.000000	0.03702	0.003000	0.03518	1.196000	0.32198	-0.230000	0.09840	-0.239000	0.12128	CAA		0.388	CXorf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058572.1	NM_001013403		33	59	1	0	2.80507e-11	1	3.1438e-11	33	59				
VPS13D	55187	broad.mit.edu	37	1	12316413	12316413	+	Missense_Mutation	SNP	G	G	C	rs148067811	byFrequency	TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:12316413G>C	ENST00000358136.3	+	8	823	c.693G>C	c.(691-693)gaG>gaC	p.E231D	VPS13D_ENST00000356315.4_Missense_Mutation_p.E231D	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGAGCATGGAGAGTCGCAGCC	0.537																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(691-693)gaG>gaC		vacuolar protein sorting 13 homolog D (S. cerevisiae)							134.0	123.0	127.0					1																	12316413		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12316413G>C	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.693G>C	1.37:g.12316413G>C	ENSP00000350854:p.Glu231Asp					VPS13D_ENST00000356315.4_Missense_Mutation_p.E231D	p.E231D	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	8	823	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	231						Missense_Mutation	SNP	ENST00000358136.3	37	c.693G>C	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.005748	0.35415	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.52526	0.66;0.66	5.94	3.71	0.42584	.	0.164625	0.52532	N	0.000065	T	0.32133	0.0819	L	0.43152	1.355	0.80722	D	1	B;B	0.30741	0.232;0.293	B;B	0.29440	0.102;0.07	T	0.06588	-1.0818	10	0.13853	T	0.58	.	5.4578	0.16600	0.178:0.1984:0.6236:0.0	.	231;231	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	D	231	ENSP00000348666:E231D;ENSP00000350854:E231D	ENSP00000348666:E231D	E	+	3	2	VPS13D	12239000	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	2.055000	0.41345	1.482000	0.48325	0.650000	0.86243	GAG		0.537	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		17	156	0	0	0	1	0	17	156				
THBS1	7057	broad.mit.edu	37	15	39885673	39885673	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr15:39885673G>C	ENST00000260356.5	+	19	3236	c.3071G>C	c.(3070-3072)gGa>gCa	p.G1024A	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1024	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		GACTATGCTGGATTTGTCTTT	0.517																																						ENST00000260356.5																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(3070-3072)gGa>gCa		thrombospondin 1	Becaplermin(DB00102)						157.0	159.0	158.0					15																	39885673		2200	4297	6497	SO:0001583	missense	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39885673G>C		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.3071G>C	15.37:g.39885673G>C	ENSP00000260356:p.Gly1024Ala						p.G1024A	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	19	3236	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	1024			TSP C-terminal.		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	c.3071G>C	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.803358	0.90623	.	.	ENSG00000137801	ENST00000260356	D	0.96830	-4.14	5.77	5.77	0.91146	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.000000	0.35525	N	0.003146	D	0.98353	0.9453	M	0.84585	2.705	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.91635	0.954;0.999	D	0.98669	1.0687	10	0.62326	D	0.03	-15.112	19.9729	0.97289	0.0:0.0:1.0:0.0	.	939;1024	B4E3J7;P07996	.;TSP1_HUMAN	A	1024	ENSP00000260356:G1024A	ENSP00000260356:G1024A	G	+	2	0	THBS1	37672965	1.000000	0.71417	0.898000	0.35279	0.992000	0.81027	9.864000	0.99589	2.714000	0.92807	0.655000	0.94253	GGA		0.517	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		19	171	0	0	0	1	0	19	171				
KCNB2	9312	broad.mit.edu	37	8	73850106	73850106	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr8:73850106G>A	ENST00000523207.1	+	3	3104	c.2516G>A	c.(2515-2517)aGt>aAt	p.S839N		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	839					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	GATAAGCCTAGTGATGGGAGA	0.522																																						ENST00000523207.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(2515-2517)aGt>aAt		potassium voltage-gated channel, Shab-related subfamily, member 2							80.0	79.0	80.0					8																	73850106		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73850106G>A	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.2516G>A	8.37:g.73850106G>A	ENSP00000430846:p.Ser839Asn						p.S839N	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	3104	+	Breast(64;0.137)		839					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.2516G>A	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	G	8.064	0.768778	0.15983	.	.	ENSG00000182674	ENST00000523207	D	0.97480	-4.4	5.26	4.38	0.52667	.	1.777430	0.03291	N	0.187567	D	0.93171	0.7825	N	0.14661	0.345	0.24006	N	0.996193	B	0.02656	0.0	B	0.06405	0.002	D	0.84111	0.0401	10	0.27785	T	0.31	.	9.419	0.38539	0.1614:0.0:0.8386:0.0	.	839	Q92953	KCNB2_HUMAN	N	839	ENSP00000430846:S839N	ENSP00000430846:S839N	S	+	2	0	KCNB2	74012660	0.053000	0.20554	0.171000	0.22900	0.940000	0.58332	1.150000	0.31639	1.448000	0.47680	0.591000	0.81541	AGT		0.522	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		39	58	0	0	0	1	0	39	58				
MASP1	5648	broad.mit.edu	37	3	186980391	186980391	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr3:186980391G>A	ENST00000337774.5	-	3	744	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W	MASP1_ENST00000392472.2_Missense_Mutation_p.R6W|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000169293.6_Missense_Mutation_p.R119W|MASP1_ENST00000392470.2_Missense_Mutation_p.R93W|MASP1_ENST00000296280.6_Missense_Mutation_p.R119W	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	119	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.|Homodimerization. {ECO:0000250}.|Interaction with FCN2.|Interaction with MBL2.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		AAATCTGACCGGAAAGTGATG	0.557																																						ENST00000337774.5																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60						c.(355-357)Cgg>Tgg		mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)							86.0	84.0	84.0					3																	186980391		2203	4300	6503	SO:0001583	missense	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:186980391G>A	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.355C>T	3.37:g.186980391G>A	ENSP00000336792:p.Arg119Trp					MASP1_ENST00000392472.2_Missense_Mutation_p.R6W|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000169293.6_Missense_Mutation_p.R119W|MASP1_ENST00000392470.2_Missense_Mutation_p.R93W|MASP1_ENST00000296280.6_Missense_Mutation_p.R119W	p.R119W	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	3	744	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		119			CUB 1.|Homodimerization (By similarity).|Interaction with FCN2.|Interaction with MBL2.		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	ENST00000337774.5	37	c.355C>T	CCDS33907.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.603065	0.66445	.	.	ENSG00000127241	ENST00000337774;ENST00000296280;ENST00000392472;ENST00000541896;ENST00000169293;ENST00000392470;ENST00000392475	T;T;D;T;T;T	0.83591	1.54;1.54;-1.74;1.54;1.54;1.54	5.45	4.56	0.56223	CUB (5);	0.258328	0.37012	N	0.002293	D	0.91553	0.7332	M	0.89214	3.015	0.51233	D	0.999912	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.972;0.938;0.995;0.999;0.96	D	0.91514	0.5229	10	0.38643	T	0.18	.	13.3929	0.60834	0.0:0.0:0.6992:0.3008	.	93;119;6;119;119	F8W876;P48740-3;P48740-4;P48740-2;P48740	.;.;.;.;MASP1_HUMAN	W	119;119;6;6;119;93;126	ENSP00000336792:R119W;ENSP00000296280:R119W;ENSP00000376264:R6W;ENSP00000169293:R119W;ENSP00000376262:R93W;ENSP00000376267:R126W	ENSP00000169293:R119W	R	-	1	2	MASP1	188463085	0.878000	0.30173	1.000000	0.80357	0.991000	0.79684	0.763000	0.26517	1.417000	0.47077	0.655000	0.94253	CGG		0.557	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		15	63	0	0	0	1	0	15	63				
PGS1	9489	broad.mit.edu	37	17	76422537	76422537	+	IGR	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr17:76422537C>A	ENST00000262764.6	+	0	2201				DNAH17_ENST00000585328.1_Splice_Site|DNAH17_ENST00000389840.5_Splice_Site|AC061992.1_ENST00000600087.1_Nonsense_Mutation_p.Y43*|DNAH17_ENST00000586052.1_Splice_Site	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1						cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			ACGGCACTTACCCTGATGCGG	0.632																																					Esophageal Squamous(45;182 1126 10685 43198)	ENST00000600087.1																			0											c.(127-129)taC>taA																																						SO:0001628	intergenic_variant	8632							g.chr17:76422537C>A		CCDS42391.1	17q25.3	2006-02-09							30029	protein-coding gene	gene with protein product		614942				9880566	Standard	XR_243691		Approved	DKFZP762M186	uc002jvm.3	Q32NB8			17.37:g.76422537C>A						DNAH17_ENST00000585328.1_Splice_Site|DNAH17_ENST00000389840.5_Splice_Site|DNAH17_ENST00000586052.1_Splice_Site	p.Y43*							1	129	+								B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Nonsense_Mutation	SNP	ENST00000262764.6	37	c.129C>A	CCDS42391.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.849656	0.71603	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4155	0.83732	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DNAH17	73934132	1.000000	0.71417	0.999000	0.59377	0.711000	0.40976	5.661000	0.68025	2.520000	0.84964	0.655000	0.94253	.		0.632	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437301.1	NM_024419		15	7	1	0	1.05317e-09	1	1.15849e-09	15	7				
BMP5	653	broad.mit.edu	37	6	55739531	55739531	+	Missense_Mutation	SNP	T	T	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:55739531T>G	ENST00000370830.3	-	1	831	c.133A>C	c.(133-135)Aac>Cac	p.N45H	BMP5_ENST00000446683.2_Missense_Mutation_p.N45H	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	45					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTTTCGTGGTTCCGTAGTCTT	0.463																																						ENST00000370830.3																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45						c.(133-135)Aac>Cac		bone morphogenetic protein 5							193.0	181.0	185.0					6																	55739531		2203	4300	6503	SO:0001583	missense	653				cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr6:55739531T>G		CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.133A>C	6.37:g.55739531T>G	ENSP00000359866:p.Asn45His					BMP5_ENST00000446683.2_Missense_Mutation_p.N45H	p.N45H	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		1	831	-	Lung NSC(77;0.0462)		45					B4E0Y4|Q9H547|Q9NTM5	Missense_Mutation	SNP	ENST00000370830.3	37	c.133A>C	CCDS4958.1	.	.	.	.	.	.	.	.	.	.	T	15.44	2.834067	0.50951	.	.	ENSG00000112175	ENST00000370830;ENST00000446683	T;T	0.64803	-0.12;-0.12	5.72	5.72	0.89469	Transforming growth factor-beta, N-terminal (1);	0.100085	0.64402	D	0.000002	T	0.67720	0.2923	L	0.51422	1.61	0.58432	D	0.999999	D;D	0.64830	0.994;0.994	D;D	0.66196	0.942;0.942	T	0.71817	-0.4478	10	0.66056	D	0.02	.	15.9912	0.80206	0.0:0.0:0.0:1.0	.	45;45	B4E0Y4;P22003	.;BMP5_HUMAN	H	45	ENSP00000359866:N45H;ENSP00000391818:N45H	ENSP00000359866:N45H	N	-	1	0	BMP5	55847490	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.289000	0.72696	2.172000	0.68678	0.533000	0.62120	AAC		0.463	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1			24	68	0	0	0	1	0	24	68				
DHRS9	10170	broad.mit.edu	37	2	169938300	169938300	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr2:169938300A>T	ENST00000327239.4	+	5	1713	c.209A>T	c.(208-210)aAg>aTg	p.K70M	DHRS9_ENST00000421653.1_De_novo_Start_OutOfFrame|DHRS9_ENST00000357546.2_Missense_Mutation_p.K70M|DHRS9_ENST00000602501.1_Missense_Mutation_p.K70M|DHRS9_ENST00000432060.2_Missense_Mutation_p.K130M|DHRS9_ENST00000412271.1_Missense_Mutation_p.K70M|DHRS9_ENST00000436483.2_Missense_Mutation_p.K70M|DHRS9_ENST00000428522.1_Missense_Mutation_p.K70M	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	70					9-cis-retinoic acid biosynthetic process (GO:0042904)|androgen metabolic process (GO:0008209)|epithelial cell differentiation (GO:0030855)|progesterone metabolic process (GO:0042448)|retinol metabolic process (GO:0042572)	integral component of endoplasmic reticulum membrane (GO:0030176)	alcohol dehydrogenase (NAD) activity (GO:0004022)|racemase and epimerase activity (GO:0016854)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						ACAGCTTTAAAGGCAGAAACC	0.483																																						ENST00000421653.1																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13								dehydrogenase/reductase (SDR family) member 9							83.0	82.0	83.0					2																	169938300		2203	4300	6503	SO:0001583	missense	10170				9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity	g.chr2:169938300A>T	AF067174	CCDS2231.1, CCDS74600.1	2q31.1	2011-09-14			ENSG00000073737	ENSG00000073737		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	16888	protein-coding gene	gene with protein product	"""NADP-dependent retinol dehydrogenase/reductase"", ""3-alpha hydroxysteroid dehydrogenase"", ""retinol dehydrogenase homolog"", ""short chain dehydrogenase/reductase family 9C, member 4"""	612131				11304534, 11294878, 19027726	Standard	NM_001142270		Approved	RDHL, 3alpha-HSD, RETSDR8, RDH15, SDR9C4	uc010zde.2	Q9BPW9	OTTHUMG00000132180	ENST00000327239.4:c.209A>T	2.37:g.169938300A>T	ENSP00000316670:p.Lys70Met					DHRS9_ENST00000602501.1_Missense_Mutation_p.K70M|DHRS9_ENST00000436483.2_Missense_Mutation_p.K70M|DHRS9_ENST00000432060.2_Missense_Mutation_p.K130M|DHRS9_ENST00000428522.1_Missense_Mutation_p.K70M|DHRS9_ENST00000327239.4_Missense_Mutation_p.K70M|DHRS9_ENST00000412271.1_Missense_Mutation_p.K70M|DHRS9_ENST00000357546.2_Missense_Mutation_p.K70M				Q9BPW9	DHRS9_HUMAN			0	293	+								B7Z416|D3DPC1|Q5RKX1|Q9NRA9|Q9NRB0	Translation_Start_Site	SNP	ENST00000327239.4	37		CCDS2231.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.061099	0.76074	.	.	ENSG00000073737	ENST00000327239;ENST00000357546;ENST00000432060;ENST00000428522;ENST00000436483;ENST00000412271	D;D;D;D;D;D	0.89552	-2.53;-2.53;-2.53;-2.53;-2.53;-2.53	5.72	5.72	0.89469	NAD(P)-binding domain (1);	0.043332	0.85682	D	0.000000	D	0.92218	0.7532	M	0.78456	2.415	0.39123	D	0.961707	P;D	0.54964	0.89;0.969	P;P	0.56788	0.756;0.806	D	0.93147	0.6546	10	0.59425	D	0.04	.	10.3482	0.43918	0.9261:0.0:0.0739:0.0	.	130;70	B7Z416;Q9BPW9	.;DHRS9_HUMAN	M	70;70;130;70;70;70	ENSP00000316670:K70M;ENSP00000350154:K70M;ENSP00000389241:K130M;ENSP00000388564:K70M;ENSP00000407167:K70M;ENSP00000407747:K70M	ENSP00000316670:K70M	K	+	2	0	DHRS9	169646546	0.049000	0.20398	1.000000	0.80357	0.978000	0.69477	0.882000	0.28186	2.311000	0.77944	0.533000	0.62120	AAG		0.483	DHRS9-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333612.3	NM_005771		21	51	0	0	0	1	0	21	51				
MUC5AC	4586	broad.mit.edu	37	11	1159315	1159315	+	Missense_Mutation	SNP	C	C	T	rs369462013		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr11:1159315C>T	ENST00000356191.2	+	16	1283	c.1283C>T	c.(1282-1284)cCg>cTg	p.P428L				P98088	MUC5A_HUMAN	mucin 5AC, oligomeric mucus/gel-forming	431					cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		GTTCCATGCCCGGGTACCTGC	0.637													c|||	1	0.000199681	0.0	0.0	5008	,	,		18427	0.0		0.0	False		,,,				2504	0.001					ENST00000356191.2																			0				NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203						c.(1282-1284)cCg>cTg		mucin 5AC, oligomeric mucus/gel-forming		C	LEU/PRO	0,1750		0,0,875	65.0	68.0	67.0		1949	2.9	0.0	11		67	5,3975		0,5,1985	no	missense	MUC5AC	XM_003403450.1	98	0,5,2860	TT,TC,CC		0.1256,0.0,0.0873	probably-damaging	650/1963	1159315	5,5725	875	1990	2865	SO:0001583	missense	4586							g.chr11:1159315C>T	AJ001402, AJ298317		11p15.5	2007-04-23	2006-03-14		ENSG00000215182	ENSG00000215182		"""Mucins"""	7515	protein-coding gene	gene with protein product		158373	"""mucin 5, subtypes A and C, tracheobronchial/gastric"""			7826332, 9588204	Standard	XM_006709945		Approved	MUC5	uc001lsz.3	P98088	OTTHUMG00000154270	ENST00000356191.2:c.1283C>T	11.37:g.1159315C>T	ENSP00000348519:p.Pro428Leu						p.P428L						BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)	16	1283	+		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)						O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5	Missense_Mutation	SNP	ENST00000356191.2	37	c.1283C>T		.	.	.	.	.	.	.	.	.	.	c	11.35	1.613463	0.28712	0.0	0.001256	ENSG00000215182	ENST00000534821;ENST00000356191	T;T	0.70164	-0.46;-0.46	3.85	2.93	0.34026	.	.	.	.	.	T	0.62502	0.2433	M	0.71581	2.175	.	.	.	P	0.51537	0.946	B	0.38842	0.283	T	0.74399	-0.3678	8	0.87932	D	0	.	11.5578	0.50759	0.0:0.9108:0.0:0.0892	.	431	A7Y9J9	.	L	431;428	ENSP00000435591:P431L;ENSP00000348519:P428L	ENSP00000348519:P428L	P	+	2	0	MUC5AC	1149315	0.670000	0.27512	0.005000	0.12908	0.238000	0.25445	2.293000	0.43558	0.743000	0.32719	0.546000	0.68486	CCG		0.637	MUC5AC-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_001130382		4	42	0	0	0	1	0	4	42				
CPM	1368	broad.mit.edu	37	12	69279634	69279634	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr12:69279634G>C	ENST00000551568.1	-	3	256	c.196C>G	c.(196-198)Cca>Gca	p.P66A	CPM_ENST00000338356.3_Missense_Mutation_p.P66A|CPM_ENST00000546373.1_Missense_Mutation_p.P66A	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	66					anatomical structure morphogenesis (GO:0009653)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TGTTCCTTTGGAAACCGCCCC	0.408																																						ENST00000551568.1																			0				large_intestine(1)|lung(6)|prostate(2)	9						c.(196-198)Cca>Gca		carboxypeptidase M							147.0	142.0	144.0					12																	69279634		2203	4300	6503	SO:0001583	missense	1368				anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding	g.chr12:69279634G>C	AF368463	CCDS8987.1	12q15	2012-02-10			ENSG00000135678	ENSG00000135678	3.4.17.12		2311	protein-coding gene	gene with protein product	"""renal carboxypeptidase"", ""urinary carboxypeptidase B"""	114860				8586455	Standard	NM_001874		Approved		uc001suq.3	P14384	OTTHUMG00000169300	ENST00000551568.1:c.196C>G	12.37:g.69279634G>C	ENSP00000448517:p.Pro66Ala					CPM_ENST00000546373.1_Missense_Mutation_p.P66A|CPM_ENST00000338356.3_Missense_Mutation_p.P66A	p.P66A	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)		3	256	-	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		66					B2R800|Q9H2K9	Missense_Mutation	SNP	ENST00000551568.1	37	c.196C>G	CCDS8987.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.0|21.0	4.085071|4.085071	0.76642|0.76642	.|.	.|.	ENSG00000135678|ENSG00000135678	ENST00000549781|ENST00000551568;ENST00000338356;ENST00000546373;ENST00000548954;ENST00000548262	T|T;T;T;T;T	0.41065|0.03441	1.01|3.93;3.93;3.93;3.93;3.93	4.59|4.59	4.59|4.59	0.56863|0.56863	.|Peptidase M14, carboxypeptidase A (2);	.|0.053698	.|0.85682	.|N	.|0.000000	T|T	0.12008|0.12008	0.0292|0.0292	M|M	0.75884|0.75884	2.315|2.315	0.58432|0.58432	D|D	0.999998|0.999998	.|D	.|0.55172	.|0.97	.|P	.|0.52823	.|0.71	T|T	0.01081|0.01081	-1.1458|-1.1458	6|9	.|.	.|.	.|.	-13.0636|-13.0636	15.1426|15.1426	0.72623|0.72623	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|66	.|P14384	.|CBPM_HUMAN	L|A	64|66	ENSP00000448078:F64L|ENSP00000448517:P66A;ENSP00000339157:P66A;ENSP00000447255:P66A;ENSP00000446799:P66A;ENSP00000449911:P66A	.|.	F|P	-|-	3|1	2|0	CPM|CPM	67565901|67565901	1.000000|1.000000	0.71417|0.71417	0.852000|0.852000	0.33557|0.33557	0.890000|0.890000	0.51754|0.51754	6.651000|6.651000	0.74372|0.74372	2.475000|2.475000	0.83589|0.83589	0.557000|0.557000	0.71058|0.71058	TTC|CCA		0.408	CPM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403355.1	NM_198320		11	44	0	0	0	1	0	11	44				
DOCK11	139818	broad.mit.edu	37	X	117815131	117815131	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chrX:117815131G>C	ENST00000276202.7	+	50	5845	c.5782G>C	c.(5782-5784)Gag>Cag	p.E1928Q	DOCK11_ENST00000276204.6_Missense_Mutation_p.E1928Q	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1928	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TAAAACTGCAGAGCTGCAAAA	0.403																																						ENST00000276204.6																			0				breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						c.(5782-5784)Gag>Cag		dedicator of cytokinesis 11							85.0	73.0	77.0					X																	117815131		2203	4300	6503	SO:0001583	missense	139818				blood coagulation	cytosol	GTP binding	g.chrX:117815131G>C	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.5782G>C	X.37:g.117815131G>C	ENSP00000276202:p.Glu1928Gln					DOCK11_ENST00000276202.7_Missense_Mutation_p.E1928Q	p.E1928Q			Q5JSL3	DOC11_HUMAN			50	5856	+			1928			DHR-2.		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	c.5782G>C	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.457976	0.84317	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.21361	2.01;2.01	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.45397	0.1340	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.15983	-1.0418	10	0.37606	T	0.19	-9.6584	17.8167	0.88637	0.0:0.0:1.0:0.0	.	1928;1928	A6NIW2;Q5JSL3	.;DOC11_HUMAN	Q	1928	ENSP00000276204:E1928Q;ENSP00000276202:E1928Q	ENSP00000276202:E1928Q	E	+	1	0	DOCK11	117699159	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.441000	0.97557	2.426000	0.82243	0.544000	0.68410	GAG		0.403	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		18	37	0	0	0	1	0	18	37				
ATP10B	23120	broad.mit.edu	37	5	160067536	160067536	+	Missense_Mutation	SNP	C	C	T	rs374878756		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr5:160067536C>T	ENST00000327245.5	-	10	1778	c.932G>A	c.(931-933)cGg>cAg	p.R311Q	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	311					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATTCATGCGCCGCTCAATCTT	0.478																																						ENST00000327245.5																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(931-933)cGg>cAg		ATPase, class V, type 10B		C	GLN/ARG	1,4013		0,1,2006	188.0	189.0	189.0		932	5.4	1.0	5		189	0,8408		0,0,4204	no	missense	ATP10B	NM_025153.2	43	0,1,6210	TT,TC,CC		0.0,0.0249,0.0081	possibly-damaging	311/1462	160067536	1,12421	2007	4204	6211	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160067536C>T	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.932G>A	5.37:g.160067536C>T	ENSP00000313600:p.Arg311Gln						p.R311Q	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		10	1778	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	311					Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.932G>A	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.027573	0.75390	2.49E-4	0.0	ENSG00000118322	ENST00000327245	D	0.91124	-2.79	5.41	5.41	0.78517	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.92156	0.7513	M	0.84846	2.72	0.47341	D	0.999395	P;B;D;P	0.54397	0.924;0.157;0.966;0.536	P;B;P;B	0.46299	0.507;0.052;0.511;0.116	D	0.92577	0.6071	9	.	.	.	.	13.5202	0.61563	0.0:0.9226:0.0:0.0774	.	355;311;283;311	B4DHG1;O94823-2;O94823-3;O94823	.;.;.;AT10B_HUMAN	Q	311	ENSP00000313600:R311Q	.	R	-	2	0	ATP10B	160000114	0.995000	0.38212	1.000000	0.80357	0.996000	0.88848	3.244000	0.51399	2.547000	0.85894	0.650000	0.86243	CGG		0.478	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		26	98	0	0	0	1	0	26	98				
OR52R1	119695	broad.mit.edu	37	11	4825504	4825504	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr11:4825504G>T	ENST00000356069.2	-	1	106	c.107C>A	c.(106-108)gCc>gAc	p.A36D	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000380382.1_Missense_Mutation_p.A115D	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	36						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCATACGTGGCACAGAACGG	0.512																																						ENST00000380382.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29						c.(343-345)gCc>gAc		olfactory receptor, family 52, subfamily R, member 1							93.0	83.0	86.0					11																	4825504		2201	4298	6499	SO:0001583	missense	119695				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4825504G>T	BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"""GPCR / Class A : Olfactory receptors"""	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.107C>A	11.37:g.4825504G>T	ENSP00000348368:p.Ala36Asp					MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.A36D|MMP26_ENST00000477339.1_Intron	p.A115D			Q8NGF1	O52R1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	343	-		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)	36					Q6IFI0	Missense_Mutation	SNP	ENST00000356069.2	37	c.344C>A	CCDS31360.2	.	.	.	.	.	.	.	.	.	.	G	14.13	2.443475	0.43429	.	.	ENSG00000176937	ENST00000356069;ENST00000380382	T;T	0.00449	7.37;7.37	5.57	-1.11	0.09840	.	0.653399	0.13381	N	0.392170	T	0.00524	0.0017	M	0.76838	2.35	0.21527	N	0.999652	P	0.52061	0.95	P	0.47470	0.548	T	0.47032	-0.9148	10	0.45353	T	0.12	.	7.4705	0.27347	0.5915:0.1248:0.2837:0.0	.	36	Q8NGF1	O52R1_HUMAN	D	36;115	ENSP00000348368:A36D;ENSP00000369742:A115D	ENSP00000348368:A36D	A	-	2	0	OR52R1	4782080	0.000000	0.05858	0.969000	0.41365	0.181000	0.23173	0.093000	0.15086	-0.101000	0.12219	-0.157000	0.13467	GCC		0.512	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142183.1	NM_001005177		6	20	1	0	0.00307968	1	0.00315402	6	20				
TRAPPC9	83696	broad.mit.edu	37	8	141263009	141263009	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr8:141263009G>A	ENST00000438773.2	-	16	2431	c.2298C>T	c.(2296-2298)ttC>ttT	p.F766F	TRAPPC9_ENST00000389328.4_Silent_p.F864F|TRAPPC9_ENST00000389327.3_Silent_p.F757F	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	766					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						TCCAGCTCAAGAAGTCGCCAT	0.448																																						ENST00000389328.4																			0				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						c.(2590-2592)ttC>ttT		trafficking protein particle complex 9							64.0	63.0	63.0					8																	141263009		2203	4300	6503	SO:0001819	synonymous_variant	83696				cell differentiation	endoplasmic reticulum|Golgi apparatus		g.chr8:141263009G>A	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.2298C>T	8.37:g.141263009G>A						TRAPPC9_ENST00000389327.3_Silent_p.F757F|TRAPPC9_ENST00000438773.2_Silent_p.F766F	p.F864F	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN			16	2606	-			766					Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Silent	SNP	ENST00000438773.2	37	c.2592C>T	CCDS55278.1	.	.	.	.	.	.	.	.	.	.	G	7.715	0.695931	0.15106	.	.	ENSG00000167632	ENST00000520857	.	.	.	5.08	3.14	0.36123	.	.	.	.	.	T	0.60209	0.2251	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57911	-0.7729	4	.	.	.	.	10.6012	0.45369	0.2223:0.0:0.7777:0.0	.	.	.	.	F	610	.	.	L	-	1	0	TRAPPC9	141332191	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	3.643000	0.54374	1.360000	0.45960	0.650000	0.86243	CTT		0.448	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		8	51	0	0	0	1	0	8	51				
C16orf72	29035	broad.mit.edu	37	16	9186809	9186809	+	Silent	SNP	C	C	G	rs199733153		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr16:9186809C>G	ENST00000327827.7	+	2	655	c.258C>G	c.(256-258)ctC>ctG	p.L86L		NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN	chromosome 16 open reading frame 72	86										endometrium(4)|large_intestine(2)|lung(2)	8						GACTTTCTCTCTGGGTCCCCT	0.463																																						ENST00000327827.7																			0				endometrium(4)|large_intestine(2)|lung(2)	8						c.(256-258)ctC>ctG		chromosome 16 open reading frame 72							46.0	42.0	43.0					16																	9186809		2197	4300	6497	SO:0001819	synonymous_variant	29035							g.chr16:9186809C>G	AK123266	CCDS10538.1	16p13.2	2012-11-19			ENSG00000182831	ENSG00000182831			30103	protein-coding gene	gene with protein product						8889548	Standard	NM_014117		Approved	FLJ41272, PRO0149	uc002czm.3	Q14CZ0	OTTHUMG00000178147	ENST00000327827.7:c.258C>G	16.37:g.9186809C>G							p.L86L	NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN			2	655	+			86						Silent	SNP	ENST00000327827.7	37	c.258C>G	CCDS10538.1																																																																																				0.463	C16orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440760.2	NM_014117		4	12	0	0	0	1	0	4	12				
HYAL4	23553	broad.mit.edu	37	7	123508372	123508372	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr7:123508372A>T	ENST00000223026.4	+	3	683	c.45A>T	c.(43-45)caA>caT	p.Q15H	HYAL4_ENST00000476325.1_Missense_Mutation_p.Q15H	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	15					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|glycosaminoglycan catabolic process (GO:0006027)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	hyalurononglucosaminidase activity (GO:0004415)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						GTGTTGTTCAACCAGTACATC	0.343																																						ENST00000223026.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.(43-45)caA>caT		hyaluronoglucosaminidase 4							126.0	134.0	131.0					7																	123508372		2202	4300	6502	SO:0001583	missense	23553				fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity	g.chr7:123508372A>T	AF009010	CCDS5789.1	7q31.3	2010-01-14			ENSG00000106302	ENSG00000106302			5323	protein-coding gene	gene with protein product	"""hyaluronidase 4"""	604510				10493834	Standard	NM_012269		Approved		uc003vlc.3	Q2M3T9	OTTHUMG00000157349	ENST00000223026.4:c.45A>T	7.37:g.123508372A>T	ENSP00000223026:p.Gln15His					HYAL4_ENST00000476325.1_Missense_Mutation_p.Q15H	p.Q15H	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN			3	683	+			15					D0VXG1|Q9UL99|Q9Y6T9	Missense_Mutation	SNP	ENST00000223026.4	37	c.45A>T	CCDS5789.1	.	.	.	.	.	.	.	.	.	.	A	14.70	2.614447	0.46631	.	.	ENSG00000106302	ENST00000489978;ENST00000488323;ENST00000223026;ENST00000476325	T;T	0.18502	2.21;2.21	5.2	-4.36	0.03645	.	0.201547	0.43416	D	0.000567	T	0.06371	0.0164	N	0.08118	0	0.09310	N	1	B;B	0.14805	0.002;0.011	B;B	0.12156	0.007;0.005	T	0.16897	-1.0387	10	0.56958	D	0.05	-2.315	6.8023	0.23758	0.1971:0.1543:0.5472:0.1014	.	15;15	F8WDH9;Q2M3T9	.;HYAL4_HUMAN	H	15	ENSP00000223026:Q15H;ENSP00000417186:Q15H	ENSP00000223026:Q15H	Q	+	3	2	HYAL4	123295608	0.000000	0.05858	0.023000	0.16930	0.764000	0.43329	-0.293000	0.08320	-0.760000	0.04677	0.533000	0.62120	CAA		0.343	HYAL4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348545.1	NM_012269		10	37	0	0	0	1	0	10	37				
DEF6	50619	broad.mit.edu	37	6	35280093	35280093	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:35280093G>A	ENST00000316637.5	+	4	443	c.438G>A	c.(436-438)ctG>ctA	p.L146L	DEF6_ENST00000542066.1_Intron	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	146						cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						AATACCTGCTGAAAAAGGTAC	0.612																																						ENST00000316637.5																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						c.(436-438)ctG>ctA		differentially expressed in FDCP 6 homolog (mouse)							41.0	46.0	44.0					6																	35280093		2203	4300	6503	SO:0001819	synonymous_variant	50619					cytoplasm|nucleus|plasma membrane		g.chr6:35280093G>A	AJ276095	CCDS4802.1	6p21.33-p21.1	2013-01-10	2001-11-28		ENSG00000023892	ENSG00000023892		"""Pleckstrin homology (PH) domain containing"""	2760	protein-coding gene	gene with protein product	"""SWAP-70-like adaptor protein of T cells"""	610094	"""differentially expressed in FDCP (mouse homolog) 6"""			19251698	Standard	NM_022047		Approved	IBP, SLAT, SWAP70L	uc003okk.3	Q9H4E7	OTTHUMG00000014563	ENST00000316637.5:c.438G>A	6.37:g.35280093G>A						DEF6_ENST00000542066.1_Intron	p.L146L	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN			4	443	+			146					Q86VF4	Silent	SNP	ENST00000316637.5	37	c.438G>A	CCDS4802.1	.	.	.	.	.	.	.	.	.	.	G	8.743	0.919448	0.17982	.	.	ENSG00000023892	ENST00000444278	.	.	.	5.76	4.83	0.62350	.	.	.	.	.	T	0.53094	0.1775	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49072	-0.8977	4	.	.	.	-16.7316	11.8088	0.52171	0.0682:0.124:0.8078:0.0	.	.	.	.	K	55	.	.	E	+	1	0	DEF6	35388071	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.349000	0.33998	2.882000	0.98803	0.655000	0.94253	GAA		0.612	DEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040276.1	NM_022047		20	48	0	0	0	1	0	20	48				
STK17B	9262	broad.mit.edu	37	2	197004523	197004523	+	Splice_Site	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr2:197004523C>G	ENST00000263955.4	-	7	943	c.657G>C	c.(655-657)tgG>tgC	p.W219C	STK17B_ENST00000409228.1_Splice_Site_p.W219C	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b	219	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of fibroblast apoptotic process (GO:2000271)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			TACCAATATTCCTGAAAAACA	0.313																																						ENST00000263955.4																			0				breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15						c.e7-1		serine/threonine kinase 17b							78.0	82.0	81.0					2																	197004523		2203	4297	6500	SO:0001630	splice_region_variant	9262				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:197004523C>G	AB011421	CCDS2315.1	2q33.1	2008-02-05	2007-02-12		ENSG00000081320	ENSG00000081320			11396	protein-coding gene	gene with protein product	"""death-associated protein kinase-related 2"""	604727	"""serine/threonine kinase 17b (apoptosis-inducing)"""			9786912	Standard	NM_004226		Approved	DRAK2	uc002utk.3	O94768	OTTHUMG00000132735	ENST00000263955.4:c.657-1G>C	2.37:g.197004523C>G						STK17B_ENST00000409228.1_Splice_Site_p.W219_splice	p.W219_splice	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.141)		7	943	-			219			Protein kinase.			Splice_Site	SNP	ENST00000263955.4	37	c.656_splice	CCDS2315.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020998	0.75275	.	.	ENSG00000081320	ENST00000263955;ENST00000409228	T;T	0.68331	-0.32;-0.32	5.1	5.1	0.69264	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.47093	D	0.000245	D	0.90383	0.6990	H	0.99435	4.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94515	0.7722	10	0.87932	D	0	.	18.6949	0.91598	0.0:1.0:0.0:0.0	.	219	O94768	ST17B_HUMAN	C	219	ENSP00000263955:W219C;ENSP00000386853:W219C	ENSP00000263955:W219C	W	-	3	0	STK17B	196712768	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.150000	0.77403	2.642000	0.89623	0.591000	0.81541	TGG		0.313	STK17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256092.2		Missense_Mutation	4	27	0	0	0	1	0	4	27				
CLCA4	22802	broad.mit.edu	37	1	87033303	87033303	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:87033303C>T	ENST00000370563.3	+	7	1193	c.1151C>T	c.(1150-1152)tCc>tTc	p.S384F	CLCA4_ENST00000263723.5_Missense_Mutation_p.S97F	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	384	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		GGAGGAACTTCCATCTGCTCT	0.353																																						ENST00000370563.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(1150-1152)tCc>tTc		chloride channel accessory 4							75.0	74.0	74.0					1																	87033303		1880	4115	5995	SO:0001583	missense	22802					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:87033303C>T	AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"""chloride channel, calcium activated, family member 4"", ""chloride channel regulator 4"""			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.1151C>T	1.37:g.87033303C>T	ENSP00000359594:p.Ser384Phe					CLCA4_ENST00000263723.5_Missense_Mutation_p.S97F	p.S384F	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN		all cancers(265;0.0202)|Epithelial(280;0.0404)	7	1193	+		Lung NSC(277;0.238)	384			VWFA.		A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Missense_Mutation	SNP	ENST00000370563.3	37	c.1151C>T	CCDS41355.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.133062	0.56828	.	.	ENSG00000016602	ENST00000370563;ENST00000263723	T;T	0.14640	2.49;2.49	5.79	1.72	0.24424	von Willebrand factor, type A (3);	0.296961	0.28694	N	0.014454	T	0.13670	0.0331	M	0.92169	3.28	0.20074	N	0.999939	B	0.27450	0.179	B	0.40477	0.33	T	0.29212	-1.0019	10	0.87932	D	0	-0.4212	4.0323	0.09714	0.3441:0.3558:0.2294:0.0707	.	384	Q14CN2	CLCA4_HUMAN	F	384;97	ENSP00000359594:S384F;ENSP00000263723:S97F	ENSP00000263723:S97F	S	+	2	0	CLCA4	86805891	0.162000	0.22906	0.912000	0.35992	0.987000	0.75469	0.919000	0.28692	0.347000	0.23924	0.655000	0.94253	TCC		0.353	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128		9	21	0	0	0	1	0	9	21				
ADCY8	114	broad.mit.edu	37	8	131916134	131916134	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr8:131916134C>T	ENST00000286355.5	-	7	3887	c.1795G>A	c.(1795-1797)Gaa>Aaa	p.E599K	ADCY8_ENST00000377928.3_Missense_Mutation_p.E599K	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	599					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ACGATATCTTCAGGCAAGGAC	0.478										HNSCC(32;0.087)																												ENST00000286355.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(1795-1797)Gaa>Aaa		adenylate cyclase 8 (brain)							115.0	103.0	107.0					8																	131916134		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131916134C>T	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1795G>A	8.37:g.131916134C>T	ENSP00000286355:p.Glu599Lys	HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Missense_Mutation_p.E599K	p.E599K	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		7	3887	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		599						Missense_Mutation	SNP	ENST00000286355.5	37	c.1795G>A	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.009571	0.54361	.	.	ENSG00000155897	ENST00000286355;ENST00000377928;ENST00000522949	T;T;T	0.79940	-1.19;-1.2;-1.32	6.17	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.82314	0.5010	L	0.34521	1.04	0.45066	D	0.99808	D;D	0.63880	0.993;0.993	D;D	0.70935	0.971;0.971	T	0.77576	-0.2536	10	0.07644	T	0.81	.	16.0625	0.80847	0.135:0.865:0.0:0.0	.	599;599	E7EVL1;P40145	.;ADCY8_HUMAN	K	599;599;214	ENSP00000286355:E599K;ENSP00000367161:E599K;ENSP00000428010:E214K	ENSP00000286355:E599K	E	-	1	0	ADCY8	131985316	1.000000	0.71417	0.984000	0.44739	0.958000	0.62258	5.254000	0.65457	1.595000	0.50050	0.655000	0.94253	GAA		0.478	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			10	84	0	0	0	1	0	10	84				
ABCC3	8714	broad.mit.edu	37	17	48753913	48753913	+	Silent	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr17:48753913C>A	ENST00000285238.8	+	23	3422	c.3342C>A	c.(3340-3342)gtC>gtA	p.V1114V		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1114	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	TCACTGTGGTCATCCTGCCCC	0.592																																						ENST00000285238.8																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(3340-3342)gtC>gtA		ATP-binding cassette, sub-family C (CFTR/MRP), member 3	Glibenclamide(DB01016)						136.0	109.0	118.0					17																	48753913		2203	4300	6503	SO:0001819	synonymous_variant	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48753913C>A	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.3342C>A	17.37:g.48753913C>A							p.V1114V	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		23	3422	+			1114			ABC transmembrane type-1 2.		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Silent	SNP	ENST00000285238.8	37	c.3342C>A	CCDS32681.1																																																																																				0.592	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		41	82	1	0	4.32679e-17	1	4.98084e-17	41	82				
NIPAL1	152519	broad.mit.edu	37	4	48037979	48037979	+	Silent	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr4:48037979G>C	ENST00000295461.5	+	6	1089	c.1023G>C	c.(1021-1023)ctG>ctC	p.L341L		NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	341						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						TTGGGACCCTGAGTGGATTCT	0.398																																						ENST00000295461.5																			0				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						c.(1021-1023)ctG>ctC		NIPA-like domain containing 1							167.0	152.0	157.0					4																	48037979		2203	4300	6503	SO:0001819	synonymous_variant	152519					integral to membrane		g.chr4:48037979G>C	BC067881	CCDS3479.1	4p12	2009-03-24		2009-03-24	ENSG00000163293	ENSG00000163293			27194	protein-coding gene	gene with protein product				NPAL1			Standard	NM_207330		Approved	DKFZp686A06115	uc003gxw.3	Q6NVV3	OTTHUMG00000128622	ENST00000295461.5:c.1023G>C	4.37:g.48037979G>C							p.L341L	NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN			6	1089	+			341					B3KTB0|Q68DA9	Silent	SNP	ENST00000295461.5	37	c.1023G>C	CCDS3479.1																																																																																				0.398	NIPAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250491.4	NM_207330		13	38	0	0	0	1	0	13	38				
KLHL25	64410	broad.mit.edu	37	15	86312712	86312712	+	Silent	SNP	G	G	A	rs145878071	byFrequency	TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr15:86312712G>A	ENST00000337975.5	-	2	604	c.330C>T	c.(328-330)atC>atT	p.I110I	KLHL25_ENST00000536947.1_Silent_p.I110I|KLHL25_ENST00000559131.1_Intron|MIR1276_ENST00000408707.1_RNA	NM_022480.3	NP_071925.2	Q9H0H3	KLH25_HUMAN	kelch-like family member 25	110	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of translational initiation (GO:0006446)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						CGTTGATGGCGATGCGTGAGG	0.607													G|||	16	0.00319489	0.0	0.0	5008	,	,		21527	0.0159		0.0	False		,,,				2504	0.0					ENST00000337975.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						c.(328-330)atC>atT		kelch-like family member 25		G		1,4403	2.1+/-5.4	0,1,2201	97.0	88.0	91.0		330	4.8	1.0	15	dbSNP_134	91	0,8598		0,0,4299	no	coding-synonymous	KLHL25	NM_022480.3		0,1,6500	AA,AG,GG		0.0,0.0227,0.0077		110/590	86312712	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	64410					cytoplasm		g.chr15:86312712G>A		CCDS10339.1	15q25.3	2013-02-22	2013-02-22		ENSG00000183655	ENSG00000183655		"""Kelch-like"", ""BTB/POZ domain containing"""	25732	protein-coding gene	gene with protein product	"""ectodermal-neural cortex 2"""		"""kelch-like 25 (Drosophila)"""				Standard	XM_006720635		Approved	FLJ12587, ENC2, ENC-2	uc002bly.3	Q9H0H3	OTTHUMG00000148672	ENST00000337975.5:c.330C>T	15.37:g.86312712G>A						KLHL25_ENST00000536947.1_Silent_p.I110I|KLHL25_ENST00000559131.1_Intron	p.I110I	NM_022480.3	NP_071925.2	Q9H0H3	ENC2_HUMAN			2	604	-			110			BTB.		B2RDH2|B3KRT7	Silent	SNP	ENST00000337975.5	37	c.330C>T	CCDS10339.1																																																																																				0.607	KLHL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309023.1	NM_022480		23	51	0	0	0	1	0	23	51				
JAKMIP2	9832	broad.mit.edu	37	5	147040883	147040883	+	Silent	SNP	C	C	A	rs530786010		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr5:147040883C>A	ENST00000265272.5	-	3	722	c.255G>T	c.(253-255)ctG>ctT	p.L85L	JAKMIP2_ENST00000333010.6_Silent_p.L43L|JAKMIP2_ENST00000507386.1_Silent_p.L85L	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	85						Golgi apparatus (GO:0005794)				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACAGCCTGCAGCTCCTTCA	0.537													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18642	0.0		0.0	False		,,,				2504	0.0					ENST00000265272.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64						c.(253-255)ctG>ctT		janus kinase and microtubule interacting protein 2							175.0	162.0	166.0					5																	147040883		2203	4300	6503	SO:0001819	synonymous_variant	9832					Golgi apparatus		g.chr5:147040883C>A	AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.255G>T	5.37:g.147040883C>A						JAKMIP2_ENST00000333010.6_Silent_p.L43L|JAKMIP2_ENST00000507386.1_Silent_p.L85L	p.L85L	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	722	-			85					A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Silent	SNP	ENST00000265272.5	37	c.255G>T	CCDS4285.1																																																																																				0.537	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790		42	143	1	0	6.2361e-21	1	7.23486e-21	42	143				
ADRBK1	156	broad.mit.edu	37	11	67051382	67051382	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr11:67051382A>T	ENST00000308595.5	+	17	1743	c.1453A>T	c.(1453-1455)Att>Ttt	p.I485F	ADRBK1_ENST00000526285.1_Intron|ADRBK1_ENST00000527176.1_3'UTR	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	485	AGC-kinase C-terminal.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CGCCTTCGACATTGGCTCCTT	0.622																																						ENST00000308595.5																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22						c.(1453-1455)Att>Ttt		adrenergic, beta, receptor kinase 1	Adenosine triphosphate(DB00171)						29.0	30.0	30.0					11																	67051382		2200	4295	6495	SO:0001583	missense	156				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr11:67051382A>T	X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"""Pleckstrin homology (PH) domain containing"""	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.1453A>T	11.37:g.67051382A>T	ENSP00000312262:p.Ile485Phe					ADRBK1_ENST00000527176.1_3'UTR|ADRBK1_ENST00000526285.1_Intron	p.I485F	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		17	1743	+			485			AGC-kinase C-terminal.		B0ZBE1|Q13837|Q6GTT3	Missense_Mutation	SNP	ENST00000308595.5	37	c.1453A>T	CCDS8156.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.061073	0.76074	.	.	ENSG00000173020	ENST00000308595	T	0.53423	0.62	5.21	5.21	0.72293	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.48286	D	0.000188	T	0.73171	0.3553	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78499	-0.2180	10	0.56958	D	0.05	-7.5174	15.0557	0.71912	1.0:0.0:0.0:0.0	.	485	P25098	ARBK1_HUMAN	F	485	ENSP00000312262:I485F	ENSP00000312262:I485F	I	+	1	0	ADRBK1	66807958	1.000000	0.71417	1.000000	0.80357	0.244000	0.25665	8.772000	0.91757	2.099000	0.63709	0.482000	0.46254	ATT		0.622	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1	NM_001619		9	10	0	0	0	1	0	9	10				
HTR3A	3359	broad.mit.edu	37	11	113860273	113860273	+	Silent	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr11:113860273C>A	ENST00000504030.2	+	9	1670	c.1225C>A	c.(1225-1227)Cgg>Agg	p.R409R	HTR3A_ENST00000355556.2_Silent_p.R447R|HTR3A_ENST00000506841.2_Silent_p.R441R|HTR3A_ENST00000535865.1_Silent_p.R153R|HTR3A_ENST00000299961.5_Silent_p.R394R|HTR3A_ENST00000375498.2_Silent_p.R415R			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	409			R -> Q. {ECO:0000269|PubMed:16487942}.		cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	CCCACCACCTCGGGAGGCCTC	0.637																																						ENST00000504030.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36						c.(1225-1227)Cgg>Agg		5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						60.0	68.0	65.0					11																	113860273		2201	4296	6497	SO:0001819	synonymous_variant	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113860273C>A	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.1225C>A	11.37:g.113860273C>A						HTR3A_ENST00000355556.2_Silent_p.R447R|HTR3A_ENST00000506841.2_Silent_p.R441R|HTR3A_ENST00000299961.5_Silent_p.R394R|HTR3A_ENST00000375498.2_Silent_p.R415R|HTR3A_ENST00000535865.1_Silent_p.R153R	p.R409R			P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	9	1670	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	409		R -> Q.			B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Silent	SNP	ENST00000504030.2	37	c.1225C>A																																																																																					0.637	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		87	61	1	0	2.96794e-49	1	3.48411e-49	87	61				
AP4M1	9179	broad.mit.edu	37	7	99699579	99699579	+	Silent	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr7:99699579C>A	ENST00000359593.4	+	2	293	c.135C>A	c.(133-135)tcC>tcA	p.S45S	MCM7_ENST00000303887.5_5'Flank|MCM7_ENST00000343023.6_5'Flank|AP4M1_ENST00000422582.1_5'Flank|AP4M1_ENST00000429084.1_Silent_p.S45S|AP4M1_ENST00000421755.1_Silent_p.S45S|MCM7_ENST00000354230.3_5'Flank|AP4M1_ENST00000478501.1_3'UTR	NM_004722.3	NP_004713.2	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	45					Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|Golgi trans cisterna (GO:0000138)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAGACGAGTCCCCGGTTGTCA	0.682																																					Pancreas(174;1182 2812 29595 49511)	ENST00000429084.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17						c.(133-135)tcC>tcA		adaptor-related protein complex 4, mu 1 subunit							25.0	30.0	28.0					7																	99699579		2203	4300	6503	SO:0001819	synonymous_variant	9179				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity	g.chr7:99699579C>A	Y08387	CCDS5685.1	7q22.1	2012-06-29			ENSG00000221838	ENSG00000221838			574	protein-coding gene	gene with protein product	"""mu-adaptin-related protein-2"", ""mu subunit of AP-4"", ""AP-4 adapter complex mu subunit"", ""adaptor-related protein complex AP-4 mu4 subunit"""	602296				9013859, 10066790, 21620353	Standard	NM_004722		Approved	MU-ARP2, MU-4, SPG50	uc003utb.4	O00189	OTTHUMG00000154722	ENST00000359593.4:c.135C>A	7.37:g.99699579C>A						AP4M1_ENST00000421755.1_Silent_p.S45S|AP4M1_ENST00000359593.4_Silent_p.S45S|AP4M1_ENST00000478501.1_3'UTR	p.S45S			O00189	AP4M1_HUMAN			2	293	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		45					D6W5U1|Q8WV65|Q9UHK9	Silent	SNP	ENST00000359593.4	37	c.135C>A	CCDS5685.1																																																																																				0.682	AP4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336772.4	NM_004722		12	47	1	0	4.36969e-10	1	4.84253e-10	12	47				
EEF1A1	1915	broad.mit.edu	37	6	74228666	74228666	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:74228666G>C	ENST00000316292.9	-	3	1601	c.610C>G	c.(610-612)Cca>Gca	p.P204A	EEF1A1_ENST00000309268.6_Missense_Mutation_p.P204A|EEF1A1_ENST00000331523.2_Missense_Mutation_p.P204A|EEF1A1_ENST00000491404.1_Intron	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	204	tr-type G.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						TTAGCACTTGGCTCCAGCATG	0.428											OREG0003891	type=REGULATORY REGION|Gene=EEF1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000316292.9																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						c.(610-612)Cca>Gca		eukaryotic translation elongation factor 1 alpha 1							89.0	89.0	89.0					6																	74228666		2203	4300	6503	SO:0001583	missense	1915					cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr6:74228666G>C	BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"""leukocyte receptor cluster (LRC) member 7"""	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.610C>G	6.37:g.74228666G>C	ENSP00000339063:p.Pro204Ala		OREG0003891	type=REGULATORY REGION|Gene=EEF1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1151	EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000331523.2_Missense_Mutation_p.P204A|EEF1A1_ENST00000309268.6_Missense_Mutation_p.P204A	p.P204A	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN			3	1601	-			204					P04719|P04720|Q6IQ15	Missense_Mutation	SNP	ENST00000316292.9	37	c.610C>G	CCDS4980.1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.250247	0.22880	.	.	ENSG00000156508	ENST00000316292;ENST00000358190;ENST00000309268;ENST00000331523;ENST00000391977	T;T;T	0.40756	1.02;1.02;1.02	4.43	3.54	0.40534	Protein synthesis factor, GTP-binding (2);	0.135632	0.49916	U	0.000121	T	0.16085	0.0387	L	0.28504	0.86	0.53688	D	0.999977	B;B;B;B	0.12013	0.005;0.005;0.005;0.005	B;B;B;B	0.17722	0.019;0.019;0.019;0.019	T	0.03795	-1.1003	10	0.25106	T	0.35	.	14.0748	0.64882	0.0:0.0:0.8483:0.1517	.	204;204;204;204	P68104;Q53HR5;Q6IPS9;Q5VTE0	EF1A1_HUMAN;.;.;EF1A3_HUMAN	A	204;204;204;204;183	ENSP00000339063:P204A;ENSP00000339053:P204A;ENSP00000330054:P204A	ENSP00000339053:P204A	P	-	1	0	EEF1A1	74285387	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.839000	0.48207	0.963000	0.38082	0.549000	0.68633	CCA		0.428	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402		11	36	0	0	0	1	0	11	36				
OR5M9	390162	broad.mit.edu	37	11	56230395	56230395	+	Silent	SNP	A	A	G	rs145912919	byFrequency	TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr11:56230395A>G	ENST00000279791.1	-	1	482	c.483T>C	c.(481-483)acT>acC	p.T161T		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	161						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					ATAAGCCATAAGTCCATAGTG	0.428																																						ENST00000279791.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36						c.(481-483)acT>acC		olfactory receptor, family 5, subfamily M, member 9							93.0	95.0	94.0					11																	56230395		2201	4296	6497	SO:0001819	synonymous_variant	390162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56230395A>G	AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269		"""GPCR / Class A : Olfactory receptors"""	15294	protein-coding gene	gene with protein product							Standard	NM_001004743		Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.483T>C	11.37:g.56230395A>G							p.T161T	NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN			1	482	-	Esophageal squamous(21;0.00448)		161					Q6IEW5|Q96RB9	Silent	SNP	ENST00000279791.1	37	c.483T>C	CCDS31531.1																																																																																				0.428	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	NM_001004743		17	49	0	0	0	1	0	17	49				
RAB33B	83452	broad.mit.edu	37	4	140393939	140393939	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr4:140393939A>G	ENST00000305626.5	+	2	738	c.349A>G	c.(349-351)Acc>Gcc	p.T117A		NM_031296.1	NP_112586.1	Q9H082	RB33B_HUMAN	RAB33B, member RAS oncogene family	117					autophagy (GO:0006914)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of retrograde vesicle-mediated transport, Golgi to ER (GO:2000156)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_hematologic(180;0.162)					GTATGATATGACCAACATGGC	0.408																																						ENST00000305626.5																			0				large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						c.(349-351)Acc>Gcc		RAB33B, member RAS oncogene family							130.0	109.0	116.0					4																	140393939		2203	4300	6503	SO:0001583	missense	83452				protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding	g.chr4:140393939A>G	AF350420	CCDS3747.1	4q28	2008-02-05			ENSG00000172007	ENSG00000172007		"""RAB, member RAS oncogene"""	16075	protein-coding gene	gene with protein product		605950					Standard	NM_031296		Approved	DKFZP434G099	uc003ihv.3	Q9H082	OTTHUMG00000133384	ENST00000305626.5:c.349A>G	4.37:g.140393939A>G	ENSP00000306496:p.Thr117Ala						p.T117A	NM_031296.1	NP_112586.1	Q9H082	RB33B_HUMAN			2	738	+	all_hematologic(180;0.162)		117					B2R987|Q4W5B0	Missense_Mutation	SNP	ENST00000305626.5	37	c.349A>G	CCDS3747.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.796836	0.90453	.	.	ENSG00000172007	ENST00000305626	D	0.81821	-1.54	5.65	5.65	0.86999	Small GTP-binding protein domain (1);	0.044001	0.85682	N	0.000000	D	0.90635	0.7063	M	0.88512	2.96	0.80722	D	1	D	0.58268	0.982	D	0.64410	0.925	D	0.92398	0.5927	10	0.87932	D	0	.	15.8704	0.79115	1.0:0.0:0.0:0.0	.	117	Q9H082	RB33B_HUMAN	A	117	ENSP00000306496:T117A	ENSP00000306496:T117A	T	+	1	0	RAB33B	140613389	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.339000	0.96797	2.156000	0.67533	0.397000	0.26171	ACC		0.408	RAB33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257235.2	NM_031296		15	32	0	0	0	1	0	15	32				
SLITRK4	139065	broad.mit.edu	37	X	142716543	142716543	+	Silent	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chrX:142716543C>T	ENST00000381779.4	-	2	2607	c.2382G>A	c.(2380-2382)ctG>ctA	p.L794L	SLITRK4_ENST00000338017.4_Silent_p.L794L|SLITRK4_ENST00000356928.1_Silent_p.L794L	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	794						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TGCCACCTATCAGTGACTTCT	0.408																																						ENST00000381779.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60						c.(2380-2382)ctG>ctA		SLIT and NTRK-like family, member 4							143.0	126.0	132.0					X																	142716543		2203	4300	6503	SO:0001819	synonymous_variant	139065					integral to membrane		g.chrX:142716543C>T	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.2382G>A	X.37:g.142716543C>T						SLITRK4_ENST00000338017.4_Silent_p.L794L|SLITRK4_ENST00000356928.1_Silent_p.L794L	p.L794L	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN			2	2607	-	Acute lymphoblastic leukemia(192;6.56e-05)		794					Q5JXG3|Q8TCM8|Q96DL3	Silent	SNP	ENST00000381779.4	37	c.2382G>A	CCDS14679.1																																																																																				0.408	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		12	77	0	0	0	1	0	12	77				
ARHGAP26	23092	broad.mit.edu	37	5	142513633	142513633	+	Silent	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr5:142513633C>G	ENST00000274498.4	+	19	2178	c.1800C>G	c.(1798-1800)ccC>ccG	p.P600P	ARHGAP26_ENST00000378004.3_Silent_p.P600P	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	600	Ser-rich.				actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCGAGAGGCCCCTGACGCTCT	0.577																																						ENST00000378004.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25						c.(1798-1800)ccC>ccG		Rho GTPase activating protein 26							130.0	111.0	117.0					5																	142513633		2203	4300	6503	SO:0001819	synonymous_variant	23092				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chr5:142513633C>G	AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"""Rho GTPase activating proteins"""	17073	protein-coding gene	gene with protein product	"""GTPase regulator associated with the focal adhesion kinase pp125"""	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.1800C>G	5.37:g.142513633C>G						ARHGAP26_ENST00000274498.4_Silent_p.P600P	p.P600P	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		19	2155	+		all_hematologic(541;0.0416)	600			Ser-rich.		O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Silent	SNP	ENST00000274498.4	37	c.1800C>G	CCDS4277.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.512801	0.27123	.	.	ENSG00000145819	ENST00000443674;ENST00000418236	T;T	0.11385	2.78;3.5	5.95	3.08	0.35506	.	0.000000	0.85682	D	0.000000	T	0.18299	0.0439	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.00891	-1.1525	7	0.45353	T	0.12	.	9.3858	0.38342	0.2556:0.6759:0.0:0.0685	.	.	.	.	R	219;172	ENSP00000393276:P219R;ENSP00000416889:P172R	ENSP00000416889:P172R	P	+	2	0	ARHGAP26	142493826	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	0.698000	0.25571	0.825000	0.34637	0.655000	0.94253	CCC		0.577	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3	NM_015071		26	93	0	0	0	1	0	26	93				
KCND2	3751	broad.mit.edu	37	7	119915214	119915214	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr7:119915214G>C	ENST00000331113.4	+	1	1493	c.528G>C	c.(526-528)gaG>gaC	p.E176D		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	176					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	GGGCCTTCGAGAACCCCCACA	0.617																																						ENST00000331113.4																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75						c.(526-528)gaG>gaC		potassium voltage-gated channel, Shal-related subfamily, member 2							72.0	71.0	71.0					7																	119915214		2203	4300	6503	SO:0001583	missense	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119915214G>C	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.528G>C	7.37:g.119915214G>C	ENSP00000333496:p.Glu176Asp						p.E176D	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN			1	1493	+	all_neural(327;0.117)		176					O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	c.528G>C	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.987483	0.53934	.	.	ENSG00000184408	ENST00000331113	D	0.98012	-4.66	5.58	4.69	0.59074	.	0.000000	0.85682	D	0.000000	D	0.96090	0.8726	M	0.71036	2.16	0.50313	D	0.999864	B	0.34181	0.44	B	0.33295	0.161	D	0.94620	0.7812	9	.	.	.	.	12.0705	0.53613	0.1379:0.0:0.8621:0.0	.	176	Q9NZV8	KCND2_HUMAN	D	176	ENSP00000333496:E176D	.	E	+	3	2	KCND2	119702450	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.542000	0.67218	2.641000	0.89580	0.563000	0.77884	GAG		0.617	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		16	38	0	0	0	1	0	16	38				
APOB	338	broad.mit.edu	37	2	21234944	21234944	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr2:21234944C>T	ENST00000233242.1	-	26	4923	c.4796G>A	c.(4795-4797)cGt>cAt	p.R1599H		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1599					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.R1599H(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATATTCAGAACGCAGCAGTGC	0.413																																						ENST00000233242.1																			1	Substitution - Missense(1)	p.R1599H(1)	large_intestine(1)	NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(4795-4797)cGt>cAt		apolipoprotein B	Atorvastatin(DB01076)						102.0	87.0	92.0					2																	21234944		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21234944C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.4796G>A	2.37:g.21234944C>T	ENSP00000233242:p.Arg1599His						p.R1599H	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	4923	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1599					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.4796G>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.905977	0.92107	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00801	5.68	5.98	5.98	0.97165	.	0.096084	0.46145	D	0.000306	T	0.04998	0.0134	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.63957	0.92	T	0.20874	-1.0262	10	0.72032	D	0.01	.	20.4581	0.99154	0.0:1.0:0.0:0.0	.	1599	P04114	APOB_HUMAN	H	1599	ENSP00000233242:R1599H	ENSP00000233242:R1599H	R	-	2	0	APOB	21088449	0.995000	0.38212	0.987000	0.45799	0.424000	0.31475	1.778000	0.38614	2.835000	0.97688	0.650000	0.86243	CGT		0.413	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			7	40	0	0	0	1	0	7	40				
PRSS16	10279	broad.mit.edu	37	6	27222600	27222600	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:27222600T>A	ENST00000230582.3	+	10	1294	c.1279T>A	c.(1279-1281)Tcc>Acc	p.S427T	PRSS16_ENST00000377456.2_Intron|PRSS16_ENST00000421826.2_Missense_Mutation_p.S170T	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	427					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TCAGACGAACTCCTACTACGG	0.567																																					NSCLC(178;1118 2105 17078 23587 44429)	ENST00000230582.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(1279-1281)Tcc>Acc		protease, serine, 16 (thymus)							107.0	100.0	103.0					6																	27222600		2203	4300	6503	SO:0001583	missense	10279				protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	g.chr6:27222600T>A	AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"""Serine peptidases / Serine peptidases"""	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.1279T>A	6.37:g.27222600T>A	ENSP00000230582:p.Ser427Thr					PRSS16_ENST00000421826.2_Missense_Mutation_p.S170T|PRSS16_ENST00000377456.2_Intron	p.S427T	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN			10	1294	+			427					O75416	Missense_Mutation	SNP	ENST00000230582.3	37	c.1279T>A	CCDS4623.1	.	.	.	.	.	.	.	.	.	.	T	6.880	0.531714	0.13127	.	.	ENSG00000112812	ENST00000421826;ENST00000230582	T;T	0.14391	2.51;2.51	4.68	-3.44	0.04796	.	0.988403	0.08273	N	0.971041	T	0.01061	0.0035	N	0.04132	-0.27	0.25039	N	0.991217	B;B	0.25850	0.136;0.026	B;B	0.22880	0.042;0.023	T	0.45556	-0.9253	10	0.05959	T	0.93	-0.0643	5.9459	0.19219	0.2855:0.0:0.4384:0.2762	.	170;427	F2Z2N5;Q9NQE7	.;TSSP_HUMAN	T	170;427	ENSP00000404349:S170T;ENSP00000230582:S427T	ENSP00000230582:S427T	S	+	1	0	PRSS16	27330579	0.993000	0.37304	0.933000	0.37362	0.425000	0.31504	0.194000	0.17135	-0.247000	0.09597	0.455000	0.32223	TCC		0.567	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2			24	88	0	0	0	1	0	24	88				
GRIA3	2892	broad.mit.edu	37	X	122387299	122387299	+	Silent	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chrX:122387299C>A	ENST00000371251.1	+	3	466	c.414C>A	c.(412-414)gtC>gtA	p.V138V	GRIA3_ENST00000479118.1_3'UTR|GRIA3_ENST00000541091.1_Silent_p.V122V|GRIA3_ENST00000264357.5_Silent_p.V138V|GRIA3_ENST00000542149.1_Silent_p.V138V|GRIA3_ENST00000371256.5_Silent_p.V138V			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	138					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	TGCAGTTTGTCATCCAGATGC	0.512																																						ENST00000264357.5																			0				breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57						c.(412-414)gtC>gtA		glutamate receptor, ionotropic, AMPA 3	L-Glutamic Acid(DB00142)						127.0	104.0	112.0					X																	122387299		2203	4300	6503	SO:0001819	synonymous_variant	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122387299C>A	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.414C>A	X.37:g.122387299C>A						GRIA3_ENST00000542149.1_Silent_p.V138V|GRIA3_ENST00000541091.1_Silent_p.V122V|GRIA3_ENST00000371251.1_Silent_p.V138V|GRIA3_ENST00000479118.1_3'UTR|GRIA3_ENST00000371256.5_Silent_p.V138V	p.V138V	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN			3	706	+			138					D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Silent	SNP	ENST00000371251.1	37	c.414C>A	CCDS14604.1																																																																																				0.512	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		21	116	1	0	0.000132079	1	0.000137159	21	116				
TTF2	8458	broad.mit.edu	37	1	117619276	117619276	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:117619276G>C	ENST00000369466.4	+	7	1448	c.1404G>C	c.(1402-1404)aaG>aaC	p.K468N		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	468					ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CTAATGAGAAGAGTAACAGTC	0.507																																						ENST00000369466.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50						c.(1402-1404)aaG>aaC		transcription termination factor, RNA polymerase II							78.0	76.0	77.0					1																	117619276		2203	4300	6503	SO:0001583	missense	8458				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding	g.chr1:117619276G>C	AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 6"""	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.1404G>C	1.37:g.117619276G>C	ENSP00000358478:p.Lys468Asn						p.K468N	NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)	7	1448	+	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)	468					A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Missense_Mutation	SNP	ENST00000369466.4	37	c.1404G>C	CCDS892.1	.	.	.	.	.	.	.	.	.	.	G	6.902	0.535913	0.13188	.	.	ENSG00000116830	ENST00000369466	D	0.87650	-2.28	5.12	-1.52	0.08637	.	0.617327	0.13513	N	0.382287	T	0.62539	0.2436	L	0.41027	1.25	0.09310	N	1	B;B	0.11235	0.001;0.004	B;B	0.14578	0.002;0.011	T	0.54569	-0.8274	10	0.37606	T	0.19	-0.098	5.5259	0.16957	0.2573:0.4171:0.3256:0.0	.	468;468	Q9UNY4;Q9UNY4-2	TTF2_HUMAN;.	N	468	ENSP00000358478:K468N	ENSP00000358478:K468N	K	+	3	2	TTF2	117420799	0.477000	0.25909	0.008000	0.14137	0.032000	0.12392	0.378000	0.20569	-0.114000	0.11936	0.491000	0.48974	AAG		0.507	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3			9	78	0	0	0	1	0	9	78				
SMTN	6525	broad.mit.edu	37	22	31500330	31500330	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr22:31500330G>A	ENST00000347557.2	+	20	2850	c.2632G>A	c.(2632-2634)Gag>Aag	p.E878K	SMTN_ENST00000404574.1_3'UTR|SELM_ENST00000465536.1_5'Flank|SMTN_ENST00000333137.7_3'UTR|SMTN_ENST00000358743.1_Missense_Mutation_p.E901K	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	878	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GCCCCTGGTGGAGGTGGACGA	0.627																																						ENST00000358743.1																			0				breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						c.(2701-2703)Gag>Aag		smoothelin							211.0	150.0	171.0					22																	31500330		2203	4300	6503	SO:0001583	missense	6525				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle	g.chr22:31500330G>A	AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.2632G>A	22.37:g.31500330G>A	ENSP00000328635:p.Glu878Lys					RP3-412A9.10_ENST00000504335.1_RNA|SMTN_ENST00000404574.1_3'UTR|SMTN_ENST00000347557.2_Missense_Mutation_p.E878K|SMTN_ENST00000333137.7_3'UTR	p.E901K	NM_134270.2	NP_599032.2	P53814	SMTN_HUMAN			21	2919	+			878			CH.		O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Missense_Mutation	SNP	ENST00000347557.2	37	c.2701G>A	CCDS13886.1	.	.	.	.	.	.	.	.	.	.	G	36	5.964291	0.97151	.	.	ENSG00000183963	ENST00000358743;ENST00000347557	T;D	0.95307	-0.03;-3.67	5.27	5.27	0.74061	Calponin homology domain (5);	0.000000	0.34507	N	0.003905	D	0.96448	0.8841	M	0.70787	2.145	0.80722	D	1	D;B	0.67145	0.996;0.216	P;B	0.58331	0.837;0.206	D	0.96764	0.9563	10	0.87932	D	0	.	19.2685	0.93998	0.0:0.0:1.0:0.0	.	901;878	E7EWD0;P53814	.;SMTN_HUMAN	K	901;878	ENSP00000351593:E901K;ENSP00000328635:E878K	ENSP00000328635:E878K	E	+	1	0	SMTN	29830330	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.781000	0.99029	2.642000	0.89623	0.549000	0.68633	GAG		0.627	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	NM_134270		12	86	0	0	0	1	0	12	86				
SEMA4C	54910	broad.mit.edu	37	2	97531481	97531481	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr2:97531481G>A	ENST00000305476.5	-	5	474	c.342C>T	c.(340-342)atC>atT	p.I114I		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	114	Dominant negative effect on myogenic differentiation. {ECO:0000250}.|Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell migration in hindbrain (GO:0021535)|cerebellum development (GO:0021549)|muscle cell differentiation (GO:0042692)|neural tube closure (GO:0001843)|positive regulation of stress-activated MAPK cascade (GO:0032874)|semaphorin-plexin signaling pathway (GO:0071526)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle membrane (GO:0030672)	receptor activity (GO:0004872)			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GCAGGAAGCGGATGAAGTTGA	0.612																																						ENST00000305476.5																			0				NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						c.(340-342)atC>atT		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C							160.0	143.0	149.0					2																	97531481		2203	4300	6503	SO:0001819	synonymous_variant	54910				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity	g.chr2:97531481G>A	AB051526	CCDS2029.1	2q11.2	2013-01-11			ENSG00000168758	ENSG00000168758		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10731	protein-coding gene	gene with protein product	"""M-Sema F"""	604462		SEMAI		7656991	Standard	NM_017789		Approved	Semacl1, Semaf	uc002sxh.4	Q9C0C4	OTTHUMG00000130535	ENST00000305476.5:c.342C>T	2.37:g.97531481G>A							p.I114I	NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN			5	474	-			114			Dominant negative effect on myogenic differentiation (By similarity).|Sema.		Q32MJ3|Q7Z5X0	Silent	SNP	ENST00000305476.5	37	c.342C>T	CCDS2029.1																																																																																				0.612	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252957.1	NM_017789		6	40	0	0	0	1	0	6	40				
XPOT	11260	broad.mit.edu	37	12	64813997	64813997	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr12:64813997G>T	ENST00000332707.5	+	7	1166	c.637G>T	c.(637-639)Gtc>Ttc	p.V213F		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	213	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		TGGGGCTTATGTCTCTTGGAT	0.333																																						ENST00000332707.5																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(637-639)Gtc>Ttc		exportin, tRNA							122.0	125.0	124.0					12																	64813997		2203	4300	6503	SO:0001583	missense	11260				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	g.chr12:64813997G>T	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.637G>T	12.37:g.64813997G>T	ENSP00000327821:p.Val213Phe						p.V213F	NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN		GBM - Glioblastoma multiforme(28;0.0404)	7	1166	+			213			Necessary for interaction with Ran, nuclear localization and nuclear import.		A6NLH1|O43784|Q8WUG2|Q9BVS7	Missense_Mutation	SNP	ENST00000332707.5	37	c.637G>T	CCDS31852.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.991055	0.93106	.	.	ENSG00000184575	ENST00000332707	T	0.50548	0.74	4.89	4.89	0.63831	Exportin-1/Importin-beta-like (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65709	0.2717	M	0.86028	2.79	0.80722	D	1	P	0.48503	0.911	P	0.51516	0.672	T	0.70757	-0.4785	9	.	.	.	.	18.9398	0.92601	0.0:0.0:1.0:0.0	.	213	O43592	XPOT_HUMAN	F	213	ENSP00000327821:V213F	.	V	+	1	0	XPOT	63100264	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.655000	0.98512	2.649000	0.89929	0.655000	0.94253	GTC		0.333	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		12	39	1	0	7.03913e-09	1	7.63e-09	12	39				
RIPK3	11035	broad.mit.edu	37	14	24806948	24806948	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr14:24806948C>A	ENST00000216274.5	-	7	1071	c.853G>T	c.(853-855)Gaa>Taa	p.E285*	ADCY4_ENST00000310677.4_5'Flank|RP11-934B9.3_ENST00000555591.1_5'Flank|ADCY4_ENST00000418030.2_5'Flank|ADCY4_ENST00000554068.2_5'Flank|RIPK3_ENST00000554338.1_5'Flank|ADCY4_ENST00000558563.1_5'Flank|ADCY4_ENST00000396747.3_5'Flank	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	285	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|amyloid fibril formation (GO:1990000)|apoptotic signaling pathway (GO:0097190)|cellular protein modification process (GO:0006464)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of ligase activity (GO:0051351)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein deacetylation (GO:0090312)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of activated T cell proliferation (GO:0046006)|regulation of activation-induced cell death of T cells (GO:0070235)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000452)|regulation of interferon-gamma production (GO:0032649)|regulation of T cell mediated cytotoxicity (GO:0001914)|signal transduction (GO:0007165)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|NF-kappaB-inducing kinase activity (GO:0004704)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		TGGAAGACTTCATCAGTTTTT	0.527																																					Pancreas(58;918 1191 4668 13304 15331)	ENST00000216274.5																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(853-855)Gaa>Taa		receptor-interacting serine-threonine kinase 3							154.0	130.0	138.0					14																	24806948		2203	4300	6503	SO:0001587	stop_gained	11035				apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity	g.chr14:24806948C>A	AF156884	CCDS9628.1	14q12	2006-05-15			ENSG00000129465	ENSG00000129465			10021	protein-coding gene	gene with protein product		605817				10339433, 10358032	Standard	NM_006871		Approved	RIP3	uc001wpb.3	Q9Y572	OTTHUMG00000029349	ENST00000216274.5:c.853G>T	14.37:g.24806948C>A	ENSP00000216274:p.Glu285*						p.E285*	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN		GBM - Glioblastoma multiforme(265;0.0181)	7	1071	-			285			Protein kinase.		B4DJL9|C4AM87|Q5J795|Q5J796|Q6P5Y1	Nonsense_Mutation	SNP	ENST00000216274.5	37	c.853G>T	CCDS9628.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.555368	0.65425	.	.	ENSG00000129465	ENST00000216274	.	.	.	4.67	-5.54	0.02544	.	2.098000	0.01689	N	0.026565	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	3.8381	13.4244	0.61018	0.0:0.2532:0.0:0.7468	.	.	.	.	X	285	.	ENSP00000216274:E285X	E	-	1	0	RIPK3	23876788	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.610000	0.02064	-1.308000	0.02318	0.655000	0.94253	GAA		0.527	RIPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073203.4	NM_006871		4	18	1	0	0.184627	1	0.185251	4	18				
TOPORS	10210	broad.mit.edu	37	9	32542610	32542610	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr9:32542610C>G	ENST00000360538.2	-	3	2029	c.1913G>C	c.(1912-1914)aGa>aCa	p.R638T	TOPORS_ENST00000379858.1_Missense_Mutation_p.R573T	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	638	Arg-rich.|Interaction with SUMO1.|Interaction with TOP1.|Interaction with p53/TP53.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TCTTCTCCCTCTAGGTCTGCT	0.423																																						ENST00000360538.2																			0				large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(1912-1914)aGa>aCa		topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase							386.0	364.0	372.0					9																	32542610		2203	4300	6503	SO:0001583	missense	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32542610C>G	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.1913G>C	9.37:g.32542610C>G	ENSP00000353735:p.Arg638Thr					TOPORS_ENST00000379858.1_Missense_Mutation_p.R573T	p.R638T	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	2029	-			638			Arg-rich.|Interaction with SUMO1.|Interaction with TOP1.|Interaction with p53/TP53.		O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	c.1913G>C	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.365666	0.24684	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.16073	2.37;2.42	6.16	5.18	0.71444	.	0.000000	0.56097	D	0.000035	T	0.11367	0.0277	N	0.14661	0.345	0.22684	N	0.998852	P	0.52842	0.956	P	0.47528	0.549	T	0.19063	-1.0317	10	0.41790	T	0.15	-11.4248	5.0229	0.14370	0.0:0.7439:0.0:0.2561	.	638	Q9NS56	TOPRS_HUMAN	T	638;573	ENSP00000353735:R638T;ENSP00000369187:R573T	ENSP00000353735:R638T	R	-	2	0	TOPORS	32532610	0.650000	0.27331	0.947000	0.38551	0.915000	0.54546	1.010000	0.29898	2.937000	0.99478	0.650000	0.86243	AGA		0.423	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		31	93	0	0	0	1	0	31	93				
TM7SF3	51768	broad.mit.edu	37	12	27132839	27132839	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr12:27132839C>T	ENST00000343028.4	-	9	1292	c.1067G>A	c.(1066-1068)aGc>aAc	p.S356N	TM7SF3_ENST00000542667.1_5'UTR|RP11-421F16.3_ENST00000500632.1_RNA	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	356						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					TCCACCGACGCTTCCAGTGAC	0.502																																						ENST00000343028.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(1066-1068)aGc>aAc		transmembrane 7 superfamily member 3							136.0	106.0	116.0					12																	27132839		2203	4300	6503	SO:0001583	missense	51768					integral to membrane|plasma membrane		g.chr12:27132839C>T	AB032470	CCDS8710.1	12q11-q12	2012-08-10			ENSG00000064115	ENSG00000064115			23049	protein-coding gene	gene with protein product		605181				10828615	Standard	NM_016551		Approved		uc010sjl.2	Q9NS93	OTTHUMG00000169243	ENST00000343028.4:c.1067G>A	12.37:g.27132839C>T	ENSP00000342322:p.Ser356Asn					TM7SF3_ENST00000542667.1_5'UTR	p.S356N	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN			9	1292	-	Colorectal(261;0.0847)		356					B3KMZ3|Q9NUS4	Missense_Mutation	SNP	ENST00000343028.4	37	c.1067G>A	CCDS8710.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.648968	0.47362	.	.	ENSG00000064115	ENST00000343028;ENST00000545344	T	0.31769	1.48	5.58	4.68	0.58851	.	0.277125	0.41001	D	0.000969	T	0.25938	0.0632	L	0.44542	1.39	0.09310	N	0.999991	P	0.38677	0.642	B	0.37015	0.239	T	0.20605	-1.0270	10	0.62326	D	0.03	-5.6064	9.6258	0.39750	0.2694:0.6155:0.1151:0.0	.	356	Q9NS93	TM7S3_HUMAN	N	356;70	ENSP00000342322:S356N	ENSP00000342322:S356N	S	-	2	0	TM7SF3	27024106	0.836000	0.29430	0.052000	0.19188	0.018000	0.09664	4.060000	0.57477	1.477000	0.48234	0.655000	0.94253	AGC		0.502	TM7SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403033.1	NM_016551		11	36	0	0	0	1	0	11	36				
SLC12A6	9990	broad.mit.edu	37	15	34610823	34610823	+	Intron	SNP	C	C	A	rs200355116		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr15:34610823C>A	ENST00000354181.3	-	2	764				SLC12A6_ENST00000290209.5_Silent_p.S19S|SLC12A6_ENST00000397707.2_Intron|SLC12A6_ENST00000458406.2_Intron|SLC12A6_ENST00000397702.2_Intron|SLC12A6_ENST00000558667.1_Intron|SLC12A6_ENST00000560611.1_Intron|SLC12A6_ENST00000558589.1_Intron			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6						angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CTTGAGAGATCGAAGCCGCTG	0.428																																						ENST00000290209.5																			0				central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45						c.(55-57)tcG>tcT		solute carrier family 12 (potassium/chloride transporter), member 6	Potassium Chloride(DB00761)						96.0	94.0	94.0					15																	34610823		2201	4298	6499	SO:0001627	intron_variant	9990				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	g.chr15:34610823C>A	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.271+17787G>T	15.37:g.34610823C>A						SLC12A6_ENST00000558589.1_Intron|SLC12A6_ENST00000397702.2_Intron|SLC12A6_ENST00000397707.2_Intron|SLC12A6_ENST00000354181.3_Intron|SLC12A6_ENST00000560611.1_Intron|SLC12A6_ENST00000558667.1_Intron|SLC12A6_ENST00000458406.2_Intron	p.S19S	NM_005135.2	NP_005126.1	Q9UHW9	S12A6_HUMAN		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	1	157	-		all_lung(180;2.78e-08)	72					A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Silent	SNP	ENST00000354181.3	37	c.57G>T	CCDS58352.1																																																																																				0.428	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		11	39	1	0	6.42651e-13	1	7.31293e-13	11	39				
SPDYE3	441272	broad.mit.edu	37	7	99912207	99912207	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr7:99912207G>T	ENST00000332397.6	+	6	1219	c.1035G>T	c.(1033-1035)aaG>aaT	p.K345N	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	345										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GCAAAAGGAAGAGGGAGTGTT	0.577																																						ENST00000332397.6																			0				endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						c.(1033-1035)aaG>aaT		speedy/RINGO cell cycle regulator family member E3																																				SO:0001583	missense	441272							g.chr7:99912207G>T	BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300		"""Speedy homologs"""	35462	protein-coding gene	gene with protein product			"""speedy homolog E3 (Xenopus laevis)"""				Standard	NM_001004351		Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.1035G>T	7.37:g.99912207G>T	ENSP00000329565:p.Lys345Asn					SPDYE3_ENST00000437326.2_5'UTR	p.K345N	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN			6	1219	+			345					Q495Y9|Q6PHC4	Missense_Mutation	SNP	ENST00000332397.6	37	c.1035G>T	CCDS47658.2	.	.	.	.	.	.	.	.	.	.	G	4.912	0.169550	0.09339	.	.	ENSG00000214300	ENST00000332397	.	.	.	.	.	.	.	.	.	.	.	T	0.44726	0.1307	L	0.61218	1.895	0.09310	N	0.999998	.	.	.	.	.	.	T	0.43556	-0.9384	4	0.87932	D	0	.	.	.	.	.	.	.	.	N	345	.	ENSP00000329565:K345N	K	+	3	2	SPDYE3	99750143	0.990000	0.36364	0.035000	0.18076	0.042000	0.13812	0.754000	0.26390	0.151000	0.19162	0.154000	0.16183	AAG		0.577	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340224.2	NM_001004351		14	28	1	0	3.51602e-12	1	3.97056e-12	14	28				
PTPRZ1	5803	broad.mit.edu	37	7	121612621	121612621	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr7:121612621C>A	ENST00000393386.2	+	4	742	c.331C>A	c.(331-333)Cgt>Agt	p.R111S	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.R111S	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	111	Alpha-carbonic anhydrase.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TAATGACTACCGTGTCAGCGG	0.333																																						ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(331-333)Cgt>Agt		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							110.0	106.0	107.0					7																	121612621		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121612621C>A	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.331C>A	7.37:g.121612621C>A	ENSP00000377047:p.Arg111Ser					PTPRZ1_ENST00000449182.1_Missense_Mutation_p.R111S	p.R111S	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			4	742	+			111			Alpha-carbonic anhydrase.		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.331C>A	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.804074	0.50315	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.64803	-0.12;-0.12	5.85	4.96	0.65561	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.491285	0.21104	N	0.080119	T	0.38585	0.1046	N	0.12637	0.245	0.29788	N	0.833419	B;B	0.31485	0.117;0.325	B;B	0.21917	0.022;0.037	T	0.41716	-0.9493	10	0.66056	D	0.02	.	6.6093	0.22743	0.0:0.6921:0.0:0.3079	.	111;111	C9JFM0;P23471	.;PTPRZ_HUMAN	S	111	ENSP00000377047:R111S;ENSP00000410000:R111S	ENSP00000377047:R111S	R	+	1	0	PTPRZ1	121399857	1.000000	0.71417	0.997000	0.53966	0.854000	0.48673	2.904000	0.48719	1.451000	0.47736	0.603000	0.83216	CGT		0.333	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		12	29	1	0	2.27111e-07	1	2.40043e-07	12	29				
COL22A1	169044	broad.mit.edu	37	8	139601678	139601678	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr8:139601678G>C	ENST00000303045.6	-	65	5145	c.4699C>G	c.(4699-4701)Ccc>Gcc	p.P1567A	COL22A1_ENST00000435777.1_Missense_Mutation_p.P1547A|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1567	Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGTTCCCCGGGTTGACCTGGC	0.577										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(4699-4701)Ccc>Gcc		collagen, type XXII, alpha 1							35.0	31.0	32.0					8																	139601678		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139601678G>C	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4699C>G	8.37:g.139601678G>C	ENSP00000303153:p.Pro1567Ala	HNSCC(7;0.00092)				COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.P1547A	p.P1567A	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		65	5145	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1567			Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.4699C>G	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.910900	0.33721	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.93307	-3.2;-3.2	5.52	5.52	0.82312	.	0.000000	0.49916	D	0.000133	D	0.92737	0.7691	L	0.52573	1.65	0.43622	D	0.996007	P;P	0.37370	0.468;0.592	P;B	0.47206	0.541;0.306	D	0.89585	0.3823	10	0.17832	T	0.49	.	14.4071	0.67090	0.0:0.1473:0.8527:0.0	.	1547;1567	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	A	1567;1547;1260	ENSP00000303153:P1567A;ENSP00000387655:P1547A	ENSP00000303153:P1567A	P	-	1	0	COL22A1	139670860	1.000000	0.71417	0.998000	0.56505	0.764000	0.43329	5.219000	0.65262	2.752000	0.94435	0.655000	0.94253	CCC		0.577	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		3	15	0	0	0	1	0	3	15				
FSCB	84075	broad.mit.edu	37	14	44976017	44976017	+	Silent	SNP	A	A	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr14:44976017A>T	ENST00000340446.4	-	1	465	c.174T>A	c.(172-174)acT>acA	p.T58T	RP11-163M18.1_ENST00000556228.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	58						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TCTTTGTCCAAGTTTGCTGAA	0.423																																						ENST00000340446.4																			0				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89						c.(172-174)acT>acA		fibrous sheath CABYR binding protein							158.0	156.0	156.0					14																	44976017		2203	4300	6503	SO:0001819	synonymous_variant	84075					cilium		g.chr14:44976017A>T	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.174T>A	14.37:g.44976017A>T							p.T58T	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	465	-			58					Q5H9U7|Q86YI2|Q9H0J3	Silent	SNP	ENST00000340446.4	37	c.174T>A	CCDS9679.1																																																																																				0.423	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		16	73	0	0	0	1	0	16	73				
JAK3	3718	broad.mit.edu	37	19	17942116	17942116	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr19:17942116C>G	ENST00000527670.1	-	20	2928	c.2899G>C	c.(2899-2901)Gac>Cac	p.D967H	JAK3_ENST00000534444.1_Missense_Mutation_p.D967H|JAK3_ENST00000458235.1_Missense_Mutation_p.D967H			P52333	JAK3_HUMAN	Janus kinase 3	967	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	AGGCCGAAGTCAGCGATCTTG	0.657		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																	ENST00000458235.1		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			"""acute megakaryocytic leukemia, ETP ALL"""		0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						c.(2899-2901)Gac>Cac		Janus kinase 3							138.0	120.0	126.0					19																	17942116		2203	4300	6503	SO:0001583	missense	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17942116C>G	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.2899G>C	19.37:g.17942116C>G	ENSP00000432511:p.Asp967His					JAK3_ENST00000534444.1_Missense_Mutation_p.D967H|JAK3_ENST00000527670.1_Missense_Mutation_p.D967H	p.D967H	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN			21	2998	-			967			Protein kinase 2.		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	37	c.2899G>C	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.779154	0.90195	.	.	ENSG00000105639	ENST00000458235;ENST00000527670;ENST00000534444	D;D;D	0.98150	-2.37;-2.37;-4.75	3.28	3.28	0.37604	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.133751	0.47455	D	0.000225	D	0.99061	0.9678	H	0.97103	3.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.98813	1.0744	10	0.87932	D	0	-33.9648	12.8641	0.57930	0.0:1.0:0.0:0.0	.	967;967	P52333-2;P52333	.;JAK3_HUMAN	H	967	ENSP00000391676:D967H;ENSP00000432511:D967H;ENSP00000436421:D967H	ENSP00000391676:D967H	D	-	1	0	JAK3	17803116	1.000000	0.71417	0.968000	0.41197	0.936000	0.57629	7.670000	0.83925	1.799000	0.52666	0.462000	0.41574	GAC		0.657	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		26	130	0	0	0	1	0	26	130				
MACF1	23499	broad.mit.edu	37	1	39798666	39798666	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:39798666C>T	ENST00000372915.3	+	36	6508	c.6421C>T	c.(6421-6423)Cct>Tct	p.P2141S	MACF1_ENST00000289893.4_Missense_Mutation_p.P576S|MACF1_ENST00000567887.1_Missense_Mutation_p.P2173S|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000564288.1_Missense_Mutation_p.P2136S|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2141					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GACCATACCTCCTGCTGAGGC	0.463																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(6406-6408)Cct>Tct		microtubule-actin crosslinking factor 1							55.0	53.0	53.0					1																	39798666		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39798666C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.6421C>T	1.37:g.39798666C>T	ENSP00000362006:p.Pro2141Ser					MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.P2173S|MACF1_ENST00000289893.4_Missense_Mutation_p.P576S|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.P2141S|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000476350.1_Intron	p.P2136S			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		37	7183	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2141					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.6406C>T		.	.	.	.	.	.	.	.	.	.	C	0.035	-1.311825	0.01342	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.64085	-0.08;0.98	5.53	0.0528	0.14304	.	0.372474	0.22997	N	0.053139	T	0.40119	0.1104	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.27123	-1.0083	10	0.62326	D	0.03	.	5.4172	0.16380	0.227:0.52:0.0:0.253	.	2141	Q9UPN3	MACF1_HUMAN	S	2141;576	ENSP00000362006:P2141S;ENSP00000289893:P576S	ENSP00000289893:P576S	P	+	1	0	MACF1	39571253	0.000000	0.05858	0.198000	0.23420	0.043000	0.13939	-0.587000	0.05780	0.097000	0.17492	-0.363000	0.07495	CCT		0.463	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		21	26	0	0	0	1	0	21	26				
BAHCC1	57597	broad.mit.edu	37	17	79409906	79409906	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr17:79409906C>T	ENST00000307745.7	+	9	1531	c.1531C>T	c.(1531-1533)Ccg>Tcg	p.P511S																								TCACCAGGACCCGCTGGGCGG	0.657																																						ENST00000307745.7																			0											c.(1531-1533)Ccg>Tcg									18.0	21.0	20.0					17																	79409906		1856	4076	5932	SO:0001583	missense	57597							g.chr17:79409906C>T																												ENST00000307745.7:c.1531C>T	17.37:g.79409906C>T	ENSP00000303486:p.Pro511Ser						p.P511S							9	1531	+									Missense_Mutation	SNP	ENST00000307745.7	37	c.1531C>T		.	.	.	.	.	.	.	.	.	.	c	11.75	1.732961	0.30684	.	.	ENSG00000171282	ENST00000307745	T	0.16324	2.35	4.15	3.18	0.36537	.	.	.	.	.	T	0.10294	0.0252	L	0.29908	0.895	0.22601	N	0.998943	B	0.06786	0.001	B	0.04013	0.001	T	0.32268	-0.9913	9	0.23891	T	0.37	.	2.8287	0.05492	0.1844:0.5344:0.1792:0.102	.	511	Q9P281	BAHC1_HUMAN	S	511	ENSP00000303486:P511S	ENSP00000303486:P511S	P	+	1	0	AC110285.1	77024501	0.000000	0.05858	0.863000	0.33907	0.862000	0.49288	0.065000	0.14466	0.970000	0.38263	0.306000	0.20318	CCG		0.657	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				6	32	0	0	0	1	0	6	32				
MCM8	84515	broad.mit.edu	37	20	5932699	5932699	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr20:5932699G>A	ENST00000378896.3	+	2	415	c.38G>A	c.(37-39)gGa>gAa	p.G13E	MCM8_ENST00000378883.1_Missense_Mutation_p.G13E|MCM8_ENST00000265187.4_Missense_Mutation_p.G13E|TRMT6_ENST00000453074.2_5'Flank|MCM8_ENST00000378886.2_Missense_Mutation_p.G13E|TRMT6_ENST00000473131.1_5'Flank|TRMT6_ENST00000203001.2_5'Flank	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	13					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						TTTGGACGAGGAAGATTTCAA	0.403																																						ENST00000378896.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						c.(37-39)gGa>gAa		minichromosome maintenance complex component 8							97.0	94.0	95.0					20																	5932699		2203	4300	6503	SO:0001583	missense	84515				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr20:5932699G>A	AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"""REC homolog (Drosophila)"""	608187	"""chromosome 20 open reading frame 154"""	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.38G>A	20.37:g.5932699G>A	ENSP00000368174:p.Gly13Glu					MCM8_ENST00000378886.2_Missense_Mutation_p.G13E|MCM8_ENST00000265187.4_Missense_Mutation_p.G13E|MCM8_ENST00000378883.1_Missense_Mutation_p.G13E	p.G13E	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN			2	415	+			13					B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Missense_Mutation	SNP	ENST00000378896.3	37	c.38G>A	CCDS13094.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.127660	0.77549	.	.	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000399350;ENST00000378886;ENST00000265187	T;T;T;T	0.03580	4.02;3.88;3.9;4.02	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000001	T	0.13586	0.0329	L	0.54323	1.7	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.999;0.997	T	0.00878	-1.1530	10	0.33940	T	0.23	-22.4834	14.636	0.68689	0.0:0.1454:0.8546:0.0	.	13;13;13;13	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	E	13	ENSP00000368174:G13E;ENSP00000368161:G13E;ENSP00000368164:G13E;ENSP00000265187:G13E	ENSP00000265187:G13E	G	+	2	0	MCM8	5880699	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.489000	0.66875	2.826000	0.97356	0.655000	0.94253	GGA		0.403	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	NM_032485		11	39	0	0	0	1	0	11	39				
FASTKD3	79072	broad.mit.edu	37	5	7861342	7861342	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr5:7861342A>G	ENST00000264669.5	-	6	1940	c.1804T>C	c.(1804-1806)Tgc>Cgc	p.C602R	FASTKD3_ENST00000513658.1_5'UTR|MTRR_ENST00000502509.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	602	RAP. {ECO:0000255|PROSITE- ProRule:PRU00619}.				cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTATTGGAGCAAAACCTTTTT	0.299																																						ENST00000264669.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1804-1806)Tgc>Cgc		FAST kinase domains 3							137.0	133.0	134.0					5																	7861342		2203	4300	6503	SO:0001583	missense	79072				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr5:7861342A>G	AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.1804T>C	5.37:g.7861342A>G	ENSP00000264669:p.Cys602Arg					MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_5'UTR	p.C602R	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN			6	1940	-			602			RAP.		Q9BVD3	Missense_Mutation	SNP	ENST00000264669.5	37	c.1804T>C	CCDS3873.1	.	.	.	.	.	.	.	.	.	.	A	15.69	2.908789	0.52439	.	.	ENSG00000124279	ENST00000264669	T	0.23147	1.92	5.08	5.08	0.68730	RAP domain (3);	0.330913	0.33110	N	0.005280	T	0.53883	0.1824	M	0.86651	2.83	0.80722	D	1	D	0.56287	0.975	P	0.62184	0.899	T	0.63225	-0.6685	10	0.72032	D	0.01	-4.8629	14.8624	0.70392	1.0:0.0:0.0:0.0	.	602	Q14CZ7	FAKD3_HUMAN	R	602	ENSP00000264669:C602R	ENSP00000264669:C602R	C	-	1	0	FASTKD3	7914342	1.000000	0.71417	0.772000	0.31596	0.827000	0.46813	4.786000	0.62425	1.907000	0.55213	0.459000	0.35465	TGC		0.299	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091		12	48	0	0	0	1	0	12	48				
ESRP2	80004	broad.mit.edu	37	16	68269783	68269783	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr16:68269783C>G	ENST00000565858.1	-	1	252	c.166G>C	c.(166-168)Gtt>Ctt	p.V56L	ESRP2_ENST00000473183.2_Missense_Mutation_p.V56L|RP11-96D1.6_ENST00000564147.1_RNA	NM_024939.2	NP_079215.2	Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	56					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						ACTTGCCAAACTAGGAGGATT	0.682																																						ENST00000473183.2																			0				NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						c.(166-168)Gtt>Ctt		epithelial splicing regulatory protein 2							24.0	20.0	21.0					16																	68269783		2194	4294	6488	SO:0001583	missense	80004				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding	g.chr16:68269783C>G	AK025571	CCDS10863.1	16q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000103067	ENSG00000103067		"""RNA binding motif (RRM) containing"""	26152	protein-coding gene	gene with protein product		612960	"""RNA binding motif protein 35B"""	RBM35B		12477932	Standard	NM_024939		Approved	FLJ21918	uc002evq.1	Q9H6T0	OTTHUMG00000137557	ENST00000565858.1:c.166G>C	16.37:g.68269783C>G	ENSP00000454554:p.Val56Leu					ESRP2_ENST00000565858.1_Missense_Mutation_p.V56L	p.V56L			Q9H6T0	ESRP2_HUMAN			1	704	-			56					Q8N6H8|Q8WZ15|Q9H6I4	Missense_Mutation	SNP	ENST00000565858.1	37	c.166G>C		.	.	.	.	.	.	.	.	.	.	C	20.8	4.050723	0.75960	.	.	ENSG00000103067	ENST00000473183	T	0.41758	0.99	4.26	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.34832	0.0911	L	0.48362	1.52	0.80722	D	1	B;B	0.27166	0.17;0.09	B;B	0.25506	0.05;0.061	T	0.12604	-1.0541	10	0.28530	T	0.3	-20.8487	12.3612	0.55205	0.0:1.0:0.0:0.0	.	56;56	Q9H6T0;Q9H6T0-2	ESRP2_HUMAN;.	L	56	ENSP00000418748:V56L	ENSP00000418748:V56L	V	-	1	0	ESRP2	66827284	0.994000	0.37717	0.787000	0.31911	0.971000	0.66376	1.439000	0.35013	2.391000	0.81399	0.555000	0.69702	GTT		0.682	ESRP2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000433083.1	NM_024939		3	16	0	0	0	1	0	3	16				
ZFP37	7539	broad.mit.edu	37	9	115806327	115806327	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr9:115806327G>C	ENST00000374227.3	-	4	598	c.571C>G	c.(571-573)Cct>Gct	p.P191A	ZFP37_ENST00000553380.1_Missense_Mutation_p.P206A|ZFP37_ENST00000555206.1_Missense_Mutation_p.P192A	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	191					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GAGTGATCAGGTAAATCTAAA	0.313																																						ENST00000374227.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						c.(571-573)Cct>Gct		ZFP37 zinc finger protein							121.0	122.0	122.0					9																	115806327		2203	4299	6502	SO:0001583	missense	7539					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:115806327G>C	AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"""Zinc fingers, C2H2-type"", ""-"""	12863	protein-coding gene	gene with protein product		602951	"""zinc finger protein homologous to Zfp37 in mouse"", ""zinc finger protein 37 homolog (mouse)"""				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.571C>G	9.37:g.115806327G>C	ENSP00000363344:p.Pro191Ala					ZFP37_ENST00000555206.1_Missense_Mutation_p.P192A|ZFP37_ENST00000553380.1_Missense_Mutation_p.P206A	p.P191A			Q9Y6Q3	ZFP37_HUMAN			4	598	-			191					A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Missense_Mutation	SNP	ENST00000374227.3	37	c.571C>G	CCDS6787.1	.	.	.	.	.	.	.	.	.	.	G	0.122	-1.124019	0.01770	.	.	ENSG00000136866	ENST00000374227;ENST00000555206;ENST00000553380	T;T;T	0.04862	3.57;3.54;3.62	4.2	3.27	0.37495	.	0.538685	0.15679	N	0.250007	T	0.01695	0.0054	N	0.00399	-1.545	0.09310	N	1	P;P;B	0.36909	0.573;0.573;0.004	B;B;B	0.35182	0.197;0.197;0.004	T	0.43540	-0.9385	10	0.16896	T	0.51	-5.0438	9.2723	0.37679	0.0:0.0:0.7852:0.2147	.	192;206;191	G3V3L7;Q9Y6Q3-2;Q9Y6Q3	.;.;ZFP37_HUMAN	A	191;192;206	ENSP00000363344:P191A;ENSP00000451310:P192A;ENSP00000452552:P206A	ENSP00000363344:P191A	P	-	1	0	ZFP37	114846148	0.000000	0.05858	0.903000	0.35520	0.562000	0.35680	-0.020000	0.12525	1.304000	0.44892	0.655000	0.94253	CCT		0.313	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1	NM_003408		13	22	0	0	0	1	0	13	22				
TRPS1	7227	broad.mit.edu	37	8	116632226	116632226	+	Missense_Mutation	SNP	G	G	C	rs61758125		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr8:116632226G>C	ENST00000220888.5	-	2	219	c.60C>G	c.(58-60)atC>atG	p.I20M	TRPS1_ENST00000395715.3_Missense_Mutation_p.I33M|TRPS1_ENST00000519076.1_Missense_Mutation_p.I20M|TRPS1_ENST00000520276.1_Missense_Mutation_p.I24M|TRPS1_ENST00000519674.1_Missense_Mutation_p.I20M			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	20					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TAGGCTCCAGGATCTGGCCCT	0.448									Langer-Giedion syndrome																													ENST00000395715.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111						c.(97-99)atC>atG		trichorhinophalangeal syndrome I							89.0	82.0	84.0					8																	116632226		1843	4097	5940	SO:0001583	missense	7227	Langer-Giedion syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116632226G>C	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.60C>G	8.37:g.116632226G>C	ENSP00000220888:p.Ile20Met					TRPS1_ENST00000519076.1_Missense_Mutation_p.I20M|TRPS1_ENST00000220888.5_Missense_Mutation_p.I20M|TRPS1_ENST00000520276.1_Missense_Mutation_p.I24M|TRPS1_ENST00000519674.1_Missense_Mutation_p.I20M	p.I33M	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		3	676	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		20					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.99C>G		.	.	.	.	.	.	.	.	.	.	G	11.65	1.703073	0.30232	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674;ENST00000395713;ENST00000519815;ENST00000422939	D;D;D;D;T	0.98381	-4.9;-4.88;-4.88;-4.88;0.93	5.82	5.82	0.92795	.	0.524012	0.19479	N	0.113264	D	0.94528	0.8238	N	0.14661	0.345	0.29183	N	0.876353	B;B;B	0.22541	0.071;0.042;0.071	B;B;B	0.27608	0.043;0.019;0.081	D	0.89686	0.3894	10	0.66056	D	0.02	-2.2667	9.2253	0.37402	0.0723:0.0:0.7818:0.1459	rs61758125	24;20;33	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	M	33;20;20;24;20;33;33;33	ENSP00000379065:I33M;ENSP00000220888:I20M;ENSP00000428910:I20M;ENSP00000428680:I24M;ENSP00000429174:I20M	ENSP00000220888:I20M	I	-	3	3	TRPS1	116701401	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.989000	0.49393	2.751000	0.94390	0.650000	0.86243	ATC		0.448	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		26	58	0	0	0	1	0	26	58				
EML4	27436	broad.mit.edu	37	2	42557000	42557000	+	Missense_Mutation	SNP	A	A	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr2:42557000A>C	ENST00000318522.5	+	23	2861	c.2599A>C	c.(2599-2601)Aag>Cag	p.K867Q	EML4_ENST00000401738.3_Missense_Mutation_p.K878Q|EML4_ENST00000402711.2_Missense_Mutation_p.K809Q|EML4_ENST00000453191.2_Missense_Mutation_p.K131Q	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	867					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						ACTTGTGGAAAAGTTATCTTT	0.443			T	ALK	NSCLC																																	ENST00000318522.5				Dom	yes		2	2p21	27436	T	echinoderm microtubule associated protein like 4			E	ALK		NSCLC	EML4/ALK(543)	0				NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						c.(2599-2601)Aag>Cag		echinoderm microtubule associated protein like 4							179.0	171.0	174.0					2																	42557000		2203	4300	6503	SO:0001583	missense	27436				microtubule-based process|mitosis	cytoplasm|microtubule	protein binding	g.chr2:42557000A>C	AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"""WD repeat domain containing"""	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.2599A>C	2.37:g.42557000A>C	ENSP00000320663:p.Lys867Gln					EML4_ENST00000401738.3_Missense_Mutation_p.K878Q|EML4_ENST00000402711.2_Missense_Mutation_p.K809Q|EML4_ENST00000453191.2_Missense_Mutation_p.K131Q	p.K867Q	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN			23	2861	+			867					A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Missense_Mutation	SNP	ENST00000318522.5	37	c.2599A>C	CCDS1807.1	.	.	.	.	.	.	.	.	.	.	A	28.4	4.919356	0.92249	.	.	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738;ENST00000453191	T;T;T;T	0.49432	1.0;1.07;1.05;0.78	5.37	5.37	0.77165	WD40-repeat-containing domain (1);	0.097789	0.64402	D	0.000002	T	0.56630	0.1998	L	0.29908	0.895	0.58432	D	0.999999	D;P;D;D	0.89917	1.0;0.58;1.0;1.0	D;B;D;D	0.83275	0.996;0.326;0.996;0.996	T	0.53802	-0.8387	10	0.31617	T	0.26	-11.2106	15.6682	0.77252	1.0:0.0:0.0:0.0	.	809;809;878;867	A6H8Y6;B5MCW9;B5MBZ0;Q9HC35	.;.;.;EMAL4_HUMAN	Q	867;809;878;131	ENSP00000320663:K867Q;ENSP00000385059:K809Q;ENSP00000384939:K878Q;ENSP00000400590:K131Q	ENSP00000320663:K867Q	K	+	1	0	EML4	42410504	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.488000	0.81441	2.156000	0.67533	0.533000	0.62120	AAG		0.443	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250463.3	NM_019063		32	77	0	0	0	1	0	32	77				
ATP8B4	79895	broad.mit.edu	37	15	50271897	50271897	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr15:50271897C>G	ENST00000284509.6	-	12	1092	c.951G>C	c.(949-951)aaG>aaC	p.K317N	ATP8B4_ENST00000559829.1_Missense_Mutation_p.K317N|ATP8B4_ENST00000558959.1_5'UTR|RNA5SP394_ENST00000364216.1_RNA	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	317						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ACACAGAGCTCTTCTCTCCTT	0.368																																						ENST00000284509.6																			0				breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73						c.(949-951)aaG>aaC		ATPase, class I, type 8B, member 4							111.0	120.0	117.0					15																	50271897		2196	4295	6491	SO:0001583	missense	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50271897C>G	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.951G>C	15.37:g.50271897C>G	ENSP00000284509:p.Lys317Asn					ATP8B4_ENST00000559829.1_Missense_Mutation_p.K317N|ATP8B4_ENST00000558959.1_5'UTR	p.K317N	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	12	1092	-		all_lung(180;0.00183)	317					Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	c.951G>C	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	C	8.969	0.972456	0.18736	.	.	ENSG00000104043	ENST00000284509	T	0.28454	1.61	5.68	4.75	0.60458	ATPase, P-type, ATPase-associated domain (1);	0.320832	0.35936	N	0.002896	T	0.10723	0.0262	N	0.01122	-1.005	0.33469	D	0.585901	B	0.09022	0.002	B	0.11329	0.006	T	0.13926	-1.0491	10	0.13470	T	0.59	.	12.8727	0.57975	0.0:0.6862:0.3138:0.0	.	317	Q8TF62	AT8B4_HUMAN	N	317	ENSP00000284509:K317N	ENSP00000284509:K317N	K	-	3	2	ATP8B4	48059189	0.915000	0.31059	0.992000	0.48379	0.975000	0.68041	2.477000	0.45180	1.377000	0.46286	0.650000	0.86243	AAG		0.368	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		12	50	0	0	0	1	0	12	50				
COQ7	10229	broad.mit.edu	37	16	19087047	19087047	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr16:19087047G>A	ENST00000321998.5	+	4	438	c.372G>A	c.(370-372)gcG>gcA	p.A124A	COQ7_ENST00000568985.1_Silent_p.A124A|COQ7_ENST00000544894.2_Silent_p.A86A|COQ7_ENST00000569127.1_Silent_p.A101A	NM_016138.4	NP_057222.2	Q99807	COQ7_HUMAN	coenzyme Q7 homolog, ubiquinone (yeast)	124	2 X approximate tandem repeats.				age-dependent response to oxidative stress (GO:0001306)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|in utero embryonic development (GO:0001701)|mitochondrial ATP synthesis coupled electron transport (GO:0042775)|mitochondrion morphogenesis (GO:0070584)|neural tube formation (GO:0001841)|neurogenesis (GO:0022008)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						TCCCAGGGGCGGGGACCGCCT	0.557																																						ENST00000321998.5																			0				breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						c.(370-372)gcG>gcA		coenzyme Q7 homolog, ubiquinone (yeast)							67.0	67.0	67.0					16																	19087047		2197	4300	6497	SO:0001819	synonymous_variant	10229				ubiquinone biosynthetic process	mitochondrial inner membrane|nucleus	oxidoreductase activity|transition metal ion binding	g.chr16:19087047G>A	U81276	CCDS10574.1, CCDS53993.1	16p12.3	2008-05-14	2001-11-28		ENSG00000167186	ENSG00000167186			2244	protein-coding gene	gene with protein product		601683	"""coenzyme Q, 7 (rat, yeast) homolog"""			9020081, 10373325	Standard	NM_016138		Approved	CLK-1, CAT5	uc002dfr.3	Q99807	OTTHUMG00000131455	ENST00000321998.5:c.372G>A	16.37:g.19087047G>A						COQ7_ENST00000544894.2_Silent_p.A86A|COQ7_ENST00000569127.1_Silent_p.A101A|COQ7_ENST00000568985.1_Silent_p.A124A	p.A124A	NM_016138.4	NP_057222.2	Q99807	COQ7_HUMAN			4	438	+			124			2 X approximate tandem repeats.		B2RDA9|Q9BTT7|Q9H0T5|Q9UEW5|Q9UNR5	Silent	SNP	ENST00000321998.5	37	c.372G>A	CCDS10574.1																																																																																				0.557	COQ7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254275.3	NM_016138		16	51	0	0	0	1	0	16	51				
CES2	8824	broad.mit.edu	37	16	66973251	66973251	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr16:66973251C>G	ENST00000317091.4	+	3	1589	c.605C>G	c.(604-606)tCt>tGt	p.S202C	CES2_ENST00000417689.1_Missense_Mutation_p.S202C	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	138					catabolic process (GO:0009056)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	Dabigatran etexilate(DB06695)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Prasugrel(DB06209)	CATGAAGGCTCTAACCTGCCG	0.537																																					Ovarian(70;1230 1691 37888 38351)	ENST00000317091.4																			0				breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12						c.(604-606)tCt>tGt		carboxylesterase 2							93.0	90.0	91.0					16																	66973251		2200	4300	6500	SO:0001583	missense	8824				catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:66973251C>G	BC032095	CCDS10825.1, CCDS45507.1	16q22.1	2010-10-12	2010-10-12		ENSG00000172831	ENSG00000172831		"""Carboxylesterases"""	1864	protein-coding gene	gene with protein product		605278	"""carboxylesterase 2 (intestine, liver)"""			9169443, 9144407, 20931200	Standard	NM_198061		Approved	CE-2, iCE, CES2A1	uc002eqr.3	O00748	OTTHUMG00000137517	ENST00000317091.4:c.605C>G	16.37:g.66973251C>G	ENSP00000317842:p.Ser202Cys					CES2_ENST00000417689.1_Missense_Mutation_p.S202C	p.S202C	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	3	1589	+		Ovarian(137;0.0563)	138					A8K367|Q16859|Q5MAB8|Q7Z366|Q8IUP4|Q8TCP8	Missense_Mutation	SNP	ENST00000317091.4	37	c.605C>G	CCDS10825.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630324	0.67015	.	.	ENSG00000172831	ENST00000417689;ENST00000317091	T;T	0.60171	0.21;0.21	5.5	5.5	0.81552	Carboxylesterase, type B (1);	0.527164	0.17733	N	0.163837	T	0.80276	0.4593	M	0.88105	2.93	0.09310	N	1	D;D	0.76494	0.998;0.999	D;D	0.73708	0.976;0.981	T	0.74034	-0.3794	10	0.87932	D	0	.	16.9498	0.86242	0.0:1.0:0.0:0.0	.	138;202	O00748;A8K367	EST2_HUMAN;.	C	202	ENSP00000394452:S202C;ENSP00000317842:S202C	ENSP00000317842:S202C	S	+	2	0	CES2	65530752	0.027000	0.19231	0.582000	0.28627	0.154000	0.21943	1.568000	0.36418	2.854000	0.98071	0.655000	0.94253	TCT		0.537	CES2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268838.2	NM_003869		22	67	0	0	0	1	0	22	67				
ASB16	92591	broad.mit.edu	37	17	42248181	42248181	+	Silent	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr17:42248181C>T	ENST00000293414.1	+	1	108	c.24C>T	c.(22-24)ttC>ttT	p.F8F		NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	8					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CCTTCCCCTTCACCTCCTCCA	0.687																																						ENST00000293414.1																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14						c.(22-24)ttC>ttT		ankyrin repeat and SOCS box containing 16							46.0	42.0	44.0					17																	42248181		2203	4300	6503	SO:0001819	synonymous_variant	92591				intracellular signal transduction		protein binding	g.chr17:42248181C>T	AK054727	CCDS11478.1	17q21.31	2013-01-10	2011-01-25		ENSG00000161664	ENSG00000161664		"""Ankyrin repeat domain containing"""	19768	protein-coding gene	gene with protein product		615056	"""ankyrin repeat and SOCS box-containing 16"""			12076535	Standard	NM_080863		Approved	FLJ30165	uc002ifl.1	Q96NS5	OTTHUMG00000181809	ENST00000293414.1:c.24C>T	17.37:g.42248181C>T							p.F8F	NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	1	108	+		Breast(137;0.00765)|Prostate(33;0.0313)	8					B2RBC0|Q8WXK0	Silent	SNP	ENST00000293414.1	37	c.24C>T	CCDS11478.1																																																																																				0.687	ASB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457703.1			29	41	0	0	0	1	0	29	41				
VPS51	738	broad.mit.edu	37	11	64876853	64876853	+	Silent	SNP	G	G	A	rs369231552		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr11:64876853G>A	ENST00000279281.3	+	6	1637	c.1545G>A	c.(1543-1545)aaG>aaA	p.K515K	TM7SF2_ENST00000279263.7_5'Flank|TM7SF2_ENST00000345348.5_5'Flank|TM7SF2_ENST00000540748.1_5'Flank|AP003068.9_ENST00000528887.1_RNA|VPS51_ENST00000527646.1_3'UTR	NM_013265.2	NP_037397.2	Q9UID3	VPS51_HUMAN	vacuolar protein sorting 51 homolog (S. cerevisiae)	515					autophagy (GO:0006914)|lipid transport (GO:0006869)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											CTGGGGAGAAGGGGGGTGCCA	0.622																																						ENST00000279281.3																			0											c.(1543-1545)aaG>aaA		vacuolar protein sorting 51 homolog (S. cerevisiae)		G		0,4402		0,0,2201	93.0	90.0	91.0		1545	3.6	1.0	11		91	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	C11orf2	NM_013265.2		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		515/783	64876853	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	738							g.chr11:64876853G>A	AF024631	CCDS8093.1	11q13.1	2012-07-19	2012-07-19	2012-07-19	ENSG00000149823	ENSG00000149823			1172	protein-coding gene	gene with protein product	"""fat-free homolog (zebrafish)"""	615738	"""chromosome 11 open reading frame 3"", ""chromosome 11 open reading frame 2"""	C11orf3, C11orf2		9286704, 20685960	Standard	NM_013265		Approved	ANG2, ANG3, FFR	uc001ocr.2	Q9UID3	OTTHUMG00000165600	ENST00000279281.3:c.1545G>A	11.37:g.64876853G>A						VPS51_ENST00000527646.1_3'UTR	p.K515K	NM_013265.2	NP_037397.2					6	1637	+								Q6PJV5|Q7L8A6|Q8WZ35|Q96DF4|Q96GR3	Silent	SNP	ENST00000279281.3	37	c.1545G>A	CCDS8093.1	.	.	.	.	.	.	.	.	.	.	G	8.317	0.823374	0.16678	0.0	1.16E-4	ENSG00000149823	ENST00000526856	.	.	.	5.62	3.63	0.41609	.	.	.	.	.	T	0.60728	0.2291	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53774	-0.8391	4	.	.	.	-0.4219	9.9568	0.41671	0.2596:0.0:0.7404:0.0	.	.	.	.	K	13	.	.	R	+	2	0	C11orf2	64633429	0.969000	0.33509	0.996000	0.52242	0.981000	0.71138	0.145000	0.16157	0.256000	0.21614	-1.134000	0.01955	AGG		0.622	VPS51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385217.1	NM_013265		28	38	0	0	0	1	0	28	38				
FBXO10	26267	broad.mit.edu	37	9	37518252	37518252	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr9:37518252C>T	ENST00000432825.2	-	9	2432	c.2384G>A	c.(2383-2385)cGg>cAg	p.R795Q	FBXO10_ENST00000541829.1_Missense_Mutation_p.R320Q|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	795					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		ACCATTGCCCCGGAGCTCCAC	0.582																																						ENST00000432825.2																			0				breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(2383-2385)cGg>cAg		F-box protein 10							103.0	111.0	108.0					9																	37518252		2084	4214	6298	SO:0001583	missense	26267					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr9:37518252C>T	AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"""F-boxes /  ""other"""""	13589	protein-coding gene	gene with protein product		609092	"""F-box only protein 10"""			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.2384G>A	9.37:g.37518252C>T	ENSP00000403802:p.Arg795Gln					FBXO10_ENST00000541829.1_Missense_Mutation_p.R320Q|RP11-613M10.8_ENST00000544475.1_5'UTR	p.R795Q	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN		GBM - Glioblastoma multiforme(29;0.0107)	9	2432	-			795					Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Missense_Mutation	SNP	ENST00000432825.2	37	c.2384G>A	CCDS47966.1	.	.	.	.	.	.	.	.	.	.	C	33	5.230394	0.95207	.	.	ENSG00000147912	ENST00000432825;ENST00000541829	T;T	0.80738	-1.41;-1.41	5.49	5.49	0.81192	Pectin lyase fold/virulence factor (1);Carbohydrate-binding/sugar hydrolysis domain (1);Pectin lyase fold (1);	0.000000	0.85682	D	0.000000	T	0.75236	0.3822	L	0.29908	0.895	0.80722	D	1	D;P;P	0.53745	0.962;0.814;0.814	B;B;B	0.43360	0.417;0.179;0.179	T	0.79381	-0.1827	10	0.66056	D	0.02	-15.8011	18.1683	0.89736	0.0:1.0:0.0:0.0	.	674;320;795	Q59F51;Q08AL4;Q9UK96	.;.;FBX10_HUMAN	Q	795;320	ENSP00000403802:R795Q;ENSP00000441307:R320Q	ENSP00000403802:R795Q	R	-	2	0	FBXO10	37508252	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.325000	0.59234	2.565000	0.86533	0.655000	0.94253	CGG		0.582	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052472.3			10	25	0	0	0	1	0	10	25				
PCDH18	54510	broad.mit.edu	37	4	138451205	138451205	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr4:138451205C>T	ENST00000344876.4	-	1	2424	c.2038G>A	c.(2038-2040)Gca>Aca	p.A680T	PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.A460T|PCDH18_ENST00000412923.2_Missense_Mutation_p.A680T	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	680	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ACCGACTCTGCATATTCAAAG	0.423																																						ENST00000344876.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(2038-2040)Gca>Aca		protocadherin 18							165.0	157.0	160.0					4																	138451205		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138451205C>T	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.2038G>A	4.37:g.138451205C>T	ENSP00000355082:p.Ala680Thr					PCDH18_ENST00000412923.2_Missense_Mutation_p.A680T|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.A460T	p.A680T	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN			1	2424	-	all_hematologic(180;0.24)		680			Cadherin 6.		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.2038G>A	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	C	6.189	0.403058	0.11754	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.55052	0.65;0.65;0.54	5.53	2.87	0.33458	Cadherin (2);	0.396081	0.18260	N	0.146664	T	0.34048	0.0884	N	0.19112	0.55	0.23186	N	0.998157	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.002;0.0	T	0.16928	-1.0386	10	0.29301	T	0.29	.	9.0678	0.36473	0.0:0.724:0.0:0.276	.	460;680;680	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	T	680;680;460	ENSP00000355082:A680T;ENSP00000390688:A680T;ENSP00000425903:A460T	ENSP00000355082:A680T	A	-	1	0	PCDH18	138670655	0.999000	0.42202	0.511000	0.27724	0.987000	0.75469	1.168000	0.31859	0.429000	0.26202	0.655000	0.94253	GCA		0.423	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		31	104	0	0	0	1	0	31	104				
WARS2	10352	broad.mit.edu	37	1	119575787	119575787	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:119575787G>A	ENST00000235521.4	-	6	856	c.830C>T	c.(829-831)gCg>gTg	p.A277V	WARS2_ENST00000369426.5_3'UTR|WARS2_ENST00000537870.1_Missense_Mutation_p.A183V	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	277					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)|vasculogenesis (GO:0001570)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	GGCATGCACCGCCACTATGTT	0.637																																						ENST00000235521.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15						c.(829-831)gCg>gTg		tryptophanyl tRNA synthetase 2, mitochondrial	L-Tryptophan(DB00150)						52.0	52.0	52.0					1																	119575787		2203	4300	6503	SO:0001583	missense	10352				tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity	g.chr1:119575787G>A	BC021722	CCDS900.1, CCDS30817.1	1p12	2011-07-01	2007-02-23		ENSG00000116874	ENSG00000116874	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12730	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 2, mitochondrial"""	604733				10072595, 10828066	Standard	NM_201263		Approved	TrpRS	uc001ehn.3	Q9UGM6	OTTHUMG00000012335	ENST00000235521.4:c.830C>T	1.37:g.119575787G>A	ENSP00000235521:p.Ala277Val					WARS2_ENST00000369426.5_3'UTR|WARS2_ENST00000537870.1_Missense_Mutation_p.A183V	p.A277V	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN		Lung(183;0.0629)	6	856	-	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)	277					B1ALR1|B2R9D4|Q53FT4|Q5VUD2|Q86TQ0	Missense_Mutation	SNP	ENST00000235521.4	37	c.830C>T	CCDS900.1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.336773	0.24253	.	.	ENSG00000116874	ENST00000235521;ENST00000537870	T;T	0.30714	1.52;1.52	5.87	4.88	0.63580	.	0.417726	0.29233	N	0.012750	T	0.13457	0.0326	L	0.31371	0.925	0.29592	N	0.848368	P;P	0.39131	0.511;0.661	B;B	0.36534	0.227;0.148	T	0.06373	-1.0830	10	0.36615	T	0.2	-18.0371	17.7315	0.88379	0.0:0.0:0.8692:0.1308	.	220;277	B7Z6G7;Q9UGM6	.;SYWM_HUMAN	V	277;183	ENSP00000235521:A277V;ENSP00000438807:A183V	ENSP00000235521:A277V	A	-	2	0	WARS2	119377310	0.999000	0.42202	0.757000	0.31301	0.008000	0.06430	3.349000	0.52217	2.785000	0.95823	0.655000	0.94253	GCG		0.637	WARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034362.1	NM_015836		13	58	0	0	0	1	0	13	58				
SHPRH	257218	broad.mit.edu	37	6	146276246	146276246	+	Silent	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:146276246C>T	ENST00000367505.2	-	2	477	c.213G>A	c.(211-213)aaG>aaA	p.K71K	SHPRH_ENST00000275233.7_Silent_p.K71K|SHPRH_ENST00000367503.3_Silent_p.K71K|SHPRH_ENST00000438092.2_Silent_p.K71K			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	71					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TTGAACACCTCTTCTTATCTC	0.388																																						ENST00000367503.3																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79						c.(211-213)aaG>aaA		SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase							131.0	119.0	123.0					6																	146276246		1844	4095	5939	SO:0001819	synonymous_variant	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146276246C>T	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.213G>A	6.37:g.146276246C>T						SHPRH_ENST00000438092.2_Silent_p.K71K|SHPRH_ENST00000275233.7_Silent_p.K71K|SHPRH_ENST00000367505.2_Silent_p.K71K	p.K71K	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	2	611	-		Ovarian(120;0.0365)	71					Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Silent	SNP	ENST00000367505.2	37	c.213G>A	CCDS43513.2																																																																																				0.388	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		8	64	0	0	0	1	0	8	64				
ALKBH8	91801	broad.mit.edu	37	11	107427549	107427549	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr11:107427549C>G	ENST00000428149.2	-	3	461	c.310G>C	c.(310-312)Gaa>Caa	p.E104Q	ALKBH8_ENST00000429370.1_Missense_Mutation_p.E104Q|ALKBH8_ENST00000530933.1_5'UTR|ALKBH8_ENST00000389568.3_Missense_Mutation_p.E104Q|ALKBH8_ENST00000417449.2_Missense_Mutation_p.E107Q	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)	104	RRM.				cellular response to DNA damage stimulus (GO:0006974)|tRNA methylation (GO:0030488)	cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|RNA binding (GO:0003723)|tRNA (uracil) methyltransferase activity (GO:0016300)	p.E104*(2)		breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		TCCACTACTTCTTTTCCATTG	0.353																																						ENST00000428149.2																			2	Substitution - Nonsense(2)	p.E104*(2)	large_intestine(2)	breast(2)|large_intestine(2)|lung(5)	9						c.(310-312)Gaa>Caa		alkB, alkylation repair homolog 8 (E. coli)							112.0	103.0	106.0					11																	107427549		2201	4298	6499	SO:0001583	missense	91801				response to DNA damage stimulus	cytosol|nucleus	metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|RNA binding|tRNA (uracil) methyltransferase activity	g.chr11:107427549C>G	AF086489	CCDS8337.2, CCDS73376.1	11q22.3	2013-10-04			ENSG00000137760	ENSG00000137760	2.1.1.229	"""Alkylation repair homologs"", ""RNA binding motif (RRM) containing"""	25189	protein-coding gene	gene with protein product		613306				20123966	Standard	NM_138775		Approved	MGC10235	uc009yxp.3	Q96BT7	OTTHUMG00000157008	ENST00000428149.2:c.310G>C	11.37:g.107427549C>G	ENSP00000415885:p.Glu104Gln					ALKBH8_ENST00000530933.1_5'UTR|ALKBH8_ENST00000429370.1_Missense_Mutation_p.E104Q|ALKBH8_ENST00000417449.2_Missense_Mutation_p.E107Q|ALKBH8_ENST00000389568.3_Missense_Mutation_p.E104Q	p.E104Q	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)	3	461	-		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)	104			RRM.		B1Q2M0|B4DEF6|Q8N989	Missense_Mutation	SNP	ENST00000428149.2	37	c.310G>C	CCDS8337.2	.	.	.	.	.	.	.	.	.	.	C	14.99	2.699752	0.48307	.	.	ENSG00000137760	ENST00000428149;ENST00000429370;ENST00000389568;ENST00000417449	T;T;T;T	0.45276	0.91;2.3;0.91;0.9	5.77	5.77	0.91146	Nucleotide-binding, alpha-beta plait (1);	0.228567	0.43747	D	0.000535	T	0.46034	0.1372	M	0.72118	2.19	0.37905	D	0.931173	B	0.15473	0.013	B	0.12156	0.007	T	0.43814	-0.9368	10	0.22706	T	0.39	-14.9069	18.977	0.92742	0.0:1.0:0.0:0.0	.	104	Q96BT7	ALKB8_HUMAN	Q	104;104;104;107	ENSP00000415885:E104Q;ENSP00000391225:E104Q;ENSP00000374219:E104Q;ENSP00000397673:E107Q	ENSP00000260318:E104Q	E	-	1	0	ALKBH8	106932759	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.595000	0.46197	2.704000	0.92352	0.655000	0.94253	GAA		0.353	ALKBH8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347071.2	NM_138775		29	19	0	0	0	1	0	29	19				
SCRT1	83482	broad.mit.edu	37	8	145557311	145557311	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr8:145557311C>T	ENST00000332135.4	-	2	694	c.583G>A	c.(583-585)Gag>Aag	p.E195K		NM_031309.4	NP_112599.2	Q9BWW7	SCRT1_HUMAN	scratch family zinc finger 1	195					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neuron migration (GO:2001222)|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(2)|upper_aerodigestive_tract(1)	3	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.35e-39)|all cancers(56;1.37e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			TTGCCGCACTCGCCGCACGCG	0.786																																						ENST00000332135.4																			0				breast(2)|upper_aerodigestive_tract(1)	3						c.(583-585)Gag>Aag		scratch family zinc finger 1							10.0	10.0	10.0					8																	145557311		2177	4260	6437	SO:0001583	missense	83482					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:145557311C>T	BC014675	CCDS6421.1	8q24.3	2013-10-09	2013-10-09		ENSG00000170616	ENSG00000261678		"""Zinc fingers, C2H2-type"""	15950	protein-coding gene	gene with protein product		605858	"""scratch (drosophila homolog) 1, zinc finger protein"", ""scratch homolog 1, zinc finger protein (Drosophila)"""			11274425	Standard	NM_031309		Approved	DKFZp547F072, ZNF898	uc003zbw.1	Q9BWW7	OTTHUMG00000165229	ENST00000332135.4:c.583G>A	8.37:g.145557311C>T	ENSP00000331692:p.Glu195Lys						p.E195K	NM_031309.4	NP_112599.1	Q9BWW7	SCRT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.35e-39)|all cancers(56;1.37e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		2	694	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		195					A8MX66|Q96C52	Missense_Mutation	SNP	ENST00000332135.4	37	c.583G>A	CCDS6421.1	.	.	.	.	.	.	.	.	.	.	c	16.82	3.227388	0.58668	.	.	ENSG00000170616	ENST00000332135	T	0.49432	0.78	1.71	1.71	0.24356	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	U	0.000016	T	0.36963	0.0986	L	0.31371	0.925	0.49687	D	0.999816	P	0.49090	0.919	P	0.45753	0.492	T	0.26780	-1.0093	10	0.72032	D	0.01	-23.2508	8.9678	0.35887	0.0:1.0:0.0:0.0	.	195	Q9BWW7	SCRT1_HUMAN	K	195	ENSP00000331692:E195K	ENSP00000331692:E195K	E	-	1	0	SCRT1	145528119	0.997000	0.39634	1.000000	0.80357	0.910000	0.53928	3.245000	0.51407	0.937000	0.37394	0.290000	0.19541	GAG		0.786	SCRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382800.2	NM_031309		4	16	0	0	0	1	0	4	16				
PAPPA2	60676	broad.mit.edu	37	1	176564577	176564577	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:176564577C>G	ENST00000367662.3	+	3	3001	c.1837C>G	c.(1837-1839)Cgc>Ggc	p.R613G	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R613G	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	613	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGGTGACTGCCGCCTGCAGGG	0.587																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(1837-1839)Cgc>Ggc		pappalysin 2							69.0	75.0	73.0					1																	176564577		2099	4223	6322	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176564577C>G	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1837C>G	1.37:g.176564577C>G	ENSP00000356634:p.Arg613Gly					PAPPA2_ENST00000367661.3_Missense_Mutation_p.R613G	p.R613G	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			3	3001	+			613			Metalloprotease.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.1837C>G	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.507394	0.44558	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	D;D	0.91407	-2.84;-2.84	5.42	4.45	0.53987	Notch domain (2);	0.362810	0.29660	N	0.011526	D	0.84297	0.5441	N	0.14661	0.345	0.40278	D	0.978361	B;B	0.30870	0.234;0.298	B;B	0.36959	0.237;0.193	D	0.84126	0.0409	10	0.46703	T	0.11	-23.4467	13.9743	0.64262	0.0:0.7226:0.2774:0.0	.	613;613	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	G	613	ENSP00000356634:R613G;ENSP00000356633:R613G	ENSP00000356633:R613G	R	+	1	0	PAPPA2	174831200	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.005000	0.49521	2.542000	0.85734	0.650000	0.86243	CGC		0.587	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			11	65	0	0	0	1	0	11	65				
ANAPC4	29945	broad.mit.edu	37	4	25390488	25390488	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr4:25390488C>G	ENST00000315368.3	+	7	641	c.499C>G	c.(499-501)Ctc>Gtc	p.L167V	ANAPC4_ENST00000510092.1_Missense_Mutation_p.L167V	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	167					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				AATTATTAAGCTCTTGGGAGA	0.294																																						ENST00000315368.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27						c.(499-501)Ctc>Gtc		anaphase promoting complex subunit 4							45.0	50.0	48.0					4																	25390488		2180	4285	6465	SO:0001583	missense	29945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr4:25390488C>G	AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"""Anaphase promoting complex subunits"""	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.499C>G	4.37:g.25390488C>G	ENSP00000318775:p.Leu167Val					ANAPC4_ENST00000510092.1_Missense_Mutation_p.L167V	p.L167V	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN			7	641	+		Breast(46;0.0503)	167					A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Missense_Mutation	SNP	ENST00000315368.3	37	c.499C>G	CCDS3434.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385616	0.82792	.	.	ENSG00000053900	ENST00000315368;ENST00000510092	T;T	0.36340	1.26;1.26	6.02	6.02	0.97574	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.57446	0.2054	L	0.58810	1.83	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.39800	-0.9596	10	0.24483	T	0.36	-16.3323	20.5373	0.99239	0.0:1.0:0.0:0.0	.	167	Q9UJX5	APC4_HUMAN	V	167	ENSP00000318775:L167V;ENSP00000426654:L167V	ENSP00000318775:L167V	L	+	1	0	ANAPC4	24999586	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.276000	0.78559	2.857000	0.98124	0.650000	0.86243	CTC		0.294	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	NM_013367		6	23	0	0	0	1	0	6	23				
ALG3	10195	broad.mit.edu	37	3	183963045	183963045	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr3:183963045G>A	ENST00000397676.3	-	4	576	c.546C>T	c.(544-546)ctC>ctT	p.L182L	ALG3_ENST00000418734.2_Silent_p.L126L|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000455059.1_Silent_p.L142L|ALG3_ENST00000463495.1_5'Flank|ALG3_ENST00000445626.2_Silent_p.L134L	NM_005787.5	NP_005778.1	Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	182					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)|dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity (GO:0052925)			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TACTGAGGAAGAGCAGCACCA	0.552																																						ENST00000455059.1																			0				kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						c.(424-426)ctC>ctT		ALG3, alpha-1,3- mannosyltransferase							35.0	40.0	38.0					3																	183963045		2011	4177	6188	SO:0001819	synonymous_variant	10195				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity	g.chr3:183963045G>A	BC002839	CCDS46967.1, CCDS46968.1	3q27.3	2013-02-26	2013-02-26		ENSG00000214160	ENSG00000214160	2.4.1.258	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	23056	protein-coding gene	gene with protein product	"""carbohydrate deficient glycoprotein syndrome type IV"", ""dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase"", ""dol-P-Man dependent alpha-1,3- mannosyltransferase"""	608750	"""asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase)"", ""asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae)"""			1058125	Standard	NM_005787		Approved	NOT56L, Not56, CDGS4, D16Ertd36e	uc003fne.2	Q92685	OTTHUMG00000156823	ENST00000397676.3:c.546C>T	3.37:g.183963045G>A						EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000418734.2_Silent_p.L126L|ALG3_ENST00000397676.3_Silent_p.L182L|ALG3_ENST00000445626.2_Silent_p.L134L	p.L142L			Q92685	ALG3_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		4	880	-	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		182					A8JZZ6|Q9BT71	Silent	SNP	ENST00000397676.3	37	c.426C>T	CCDS46968.1	.	.	.	.	.	.	.	.	.	.	G	9.228	1.035191	0.19590	.	.	ENSG00000214160	ENST00000446569	D	0.88277	-2.36	5.14	1.18	0.20946	.	0.170971	0.39615	U	0.001301	D	0.87204	0.6119	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.80002	-0.1565	7	0.34782	T	0.22	-16.044	7.2226	0.25997	0.1489:0.4081:0.4431:0.0	.	.	.	.	F	86	ENSP00000397326:L86F	ENSP00000397326:L86F	L	-	1	0	ALG3	185445739	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	0.581000	0.23819	-0.073000	0.12842	0.462000	0.41574	CTT		0.552	ALG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346033.1	NM_005787		4	35	0	0	0	1	0	4	35				
CENPK	64105	broad.mit.edu	37	5	64824348	64824348	+	Silent	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr5:64824348G>C	ENST00000396679.1	-	9	742	c.528C>G	c.(526-528)ctC>ctG	p.L176L	CENPK_ENST00000242872.3_Silent_p.L176L|CENPK_ENST00000510693.1_Silent_p.L113L|CENPK_ENST00000514814.1_Silent_p.L176L|CENPK_ENST00000508421.1_Silent_p.L146L|CENPK_ENST00000506282.2_5'UTR	NM_022145.4	NP_071428.2	Q9BS16	CENPK_HUMAN	centromere protein K	176					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)	10		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)		AGGTACTCAAGAGTTTCTCCT	0.269																																						ENST00000396679.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)	10						c.(526-528)ctC>ctG		centromere protein K							35.0	38.0	37.0					5																	64824348		2202	4287	6489	SO:0001819	synonymous_variant	64105				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm		g.chr5:64824348G>C	BC008504	CCDS3984.1	5q12.3	2013-11-05			ENSG00000123219	ENSG00000123219			29479	protein-coding gene	gene with protein product		611502				8950979	Standard	NM_022145		Approved	FKSG14, SOLT, CENP-K	uc003jtu.3	Q9BS16	OTTHUMG00000131227	ENST00000396679.1:c.528C>G	5.37:g.64824348G>C						CENPK_ENST00000510693.1_Silent_p.L113L|CENPK_ENST00000508421.1_Silent_p.L146L|CENPK_ENST00000506282.2_5'UTR|CENPK_ENST00000242872.3_Silent_p.L176L|CENPK_ENST00000514814.1_Silent_p.L176L	p.L176L	NM_022145.4	NP_071428.2	Q9BS16	CENPK_HUMAN		Lung(70;0.00466)	9	742	-		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	176					Q9H4L0	Silent	SNP	ENST00000396679.1	37	c.528C>G	CCDS3984.1	.	.	.	.	.	.	.	.	.	.	G	8.123	0.781282	0.16120	.	.	ENSG00000123219	ENST00000509397	.	.	.	5.54	-2.17	0.07059	.	0.135532	0.52532	D	0.000073	T	0.53883	0.1824	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.52079	-0.8623	6	0.72032	D	0.01	-1.4346	3.6073	0.08048	0.2302:0.246:0.4342:0.0896	.	.	.	.	V	89	.	ENSP00000424450:L89V	L	-	1	0	CENPK	64860104	0.004000	0.15560	0.942000	0.38095	0.994000	0.84299	-0.599000	0.05700	-0.104000	0.12154	0.591000	0.81541	CTT		0.269	CENPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253971.2	NM_022145		4	13	0	0	0	1	0	4	13				
SLC26A4	5172	broad.mit.edu	37	7	107350640	107350640	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr7:107350640A>G	ENST00000265715.3	+	19	2455	c.2231A>G	c.(2230-2232)gAa>gGa	p.E744G	SLC26A4_ENST00000541474.1_Missense_Mutation_p.E305G|SLC26A4_ENST00000544569.1_Missense_Mutation_p.E331G|SLC26A4_ENST00000543100.1_Missense_Mutation_p.E313G	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	744					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TCCATTTTAGAAACGGTAAAT	0.343									Pendred syndrome																													ENST00000265715.3																			0				central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(2230-2232)gAa>gGa		solute carrier family 26 (anion exchanger), member 4							85.0	80.0	82.0					7																	107350640		2203	4300	6503	SO:0001583	missense	5172	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107350640A>G	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.2231A>G	7.37:g.107350640A>G	ENSP00000265715:p.Glu744Gly					SLC26A4_ENST00000544569.1_Missense_Mutation_p.E331G|SLC26A4_ENST00000543100.1_Missense_Mutation_p.E313G|SLC26A4_ENST00000541474.1_Missense_Mutation_p.E305G	p.E744G	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN			19	2455	+			744					B7Z266|O43170	Missense_Mutation	SNP	ENST00000265715.3	37	c.2231A>G	CCDS5746.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.716076	0.89205	.	.	ENSG00000091137	ENST00000265715;ENST00000541474;ENST00000544569;ENST00000543100	D;D;D;D	0.95069	-3.27;-3.53;-3.6;-3.6	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.93090	0.7800	N	0.08118	0	0.44976	D	0.997999	D;D;D	0.76494	0.999;0.998;0.969	D;P;P	0.65443	0.935;0.863;0.663	D	0.94521	0.7727	10	0.51188	T	0.08	.	15.9219	0.79583	1.0:0.0:0.0:0.0	.	305;331;744	F5H104;B7Z6M6;O43511	.;.;S26A4_HUMAN	G	744;305;331;313	ENSP00000265715:E744G;ENSP00000439743:E305G;ENSP00000437427:E331G;ENSP00000441209:E313G	ENSP00000265715:E744G	E	+	2	0	SLC26A4	107137876	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.298000	0.72763	2.218000	0.71995	0.528000	0.53228	GAA		0.343	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		5	22	0	0	0	1	0	5	22				
CYLC1	1538	broad.mit.edu	37	X	83129133	83129133	+	Missense_Mutation	SNP	A	A	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chrX:83129133A>C	ENST00000329312.4	+	4	1454	c.1417A>C	c.(1417-1419)Aaa>Caa	p.K473Q		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	473					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GAAAGATGACAAAAAGAAGGA	0.358																																						ENST00000329312.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(1417-1419)Aaa>Caa		cylicin, basic protein of sperm head cytoskeleton 1							45.0	39.0	41.0					X																	83129133		2200	4295	6495	SO:0001583	missense	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83129133A>C	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.1417A>C	X.37:g.83129133A>C	ENSP00000331556:p.Lys473Gln						p.K473Q	NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN			4	1454	+			473					A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	c.1417A>C	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	a	7.250	0.603015	0.13939	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.57752	0.38	2.63	2.63	0.31362	.	.	.	.	.	T	0.41282	0.1152	L	0.42744	1.35	0.09310	N	1	P;P	0.39250	0.665;0.665	B;B	0.37943	0.261;0.261	T	0.22730	-1.0208	9	0.40728	T	0.16	0.6826	6.407	0.21670	1.0:0.0:0.0:0.0	.	473;473	P35663;F5H4V5	CYLC1_HUMAN;.	Q	473	ENSP00000331556:K473Q	ENSP00000331556:K473Q	K	+	1	0	CYLC1	83015789	0.027000	0.19231	0.003000	0.11579	0.002000	0.02628	1.296000	0.33389	1.307000	0.44944	0.486000	0.48141	AAA		0.358	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		3	12	0	0	0	1	0	3	12				
ITGAL	3683	broad.mit.edu	37	16	30528404	30528404	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr16:30528404G>T	ENST00000356798.6	+	26	3153	c.2973G>T	c.(2971-2973)caG>caT	p.Q991H	ITGAL_ENST00000358164.5_Missense_Mutation_p.Q907H|ITGAL_ENST00000433423.2_Missense_Mutation_p.Q225H	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	991					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	GGAGCGTGCAGATGGTGAGTG	0.632																																					NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(2971-2973)caG>caT		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)						83.0	81.0	82.0					16																	30528404		2197	4300	6497	SO:0001583	missense	3683				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30528404G>T		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.2973G>T	16.37:g.30528404G>T	ENSP00000349252:p.Gln991His					ITGAL_ENST00000433423.2_Missense_Mutation_p.Q225H|ITGAL_ENST00000358164.5_Missense_Mutation_p.Q907H	p.Q991H	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN			26	3153	+			991					O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	c.2973G>T	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.235155	0.58886	.	.	ENSG00000005844	ENST00000356798;ENST00000358164;ENST00000433423	T;T;T	0.48522	0.81;0.81;0.81	4.67	3.7	0.42460	Integrin alpha-2 (1);	0.552415	0.16576	N	0.208389	T	0.36386	0.0965	L	0.35723	1.085	0.80722	D	1	B;B;B	0.26577	0.153;0.019;0.011	B;B;B	0.25987	0.065;0.034;0.023	T	0.11842	-1.0571	10	0.27785	T	0.31	.	10.4619	0.44585	0.0:0.0:0.8067:0.1932	.	225;907;991	B4E021;Q96HB1;P20701	.;.;ITAL_HUMAN	H	991;907;225	ENSP00000349252:Q991H;ENSP00000350886:Q907H;ENSP00000409377:Q225H	ENSP00000349252:Q991H	Q	+	3	2	ITGAL	30435905	1.000000	0.71417	0.980000	0.43619	0.692000	0.40212	0.933000	0.28897	1.286000	0.44565	0.557000	0.71058	CAG		0.632	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			32	99	1	0	3.69857e-22	1	4.30774e-22	32	99				
UBAC2	337867	broad.mit.edu	37	13	100020049	100020049	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr13:100020049G>C	ENST00000403766.3	+	8	951	c.816G>C	c.(814-816)atG>atC	p.M272I	UBAC2_ENST00000460562.1_3'UTR|UBAC2_ENST00000376440.2_Missense_Mutation_p.M237I	NM_001144072.1	NP_001137544.1	Q8NBM4	UBAC2_HUMAN	UBA domain containing 2	272					protein localization to endoplasmic reticulum (GO:0070972)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGGGAGGAATGATCAATTGGA	0.448																																						ENST00000376440.2																			0				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10						c.(709-711)atG>atC		UBA domain containing 2							141.0	124.0	130.0					13																	100020049		2203	4300	6503	SO:0001583	missense	337867					integral to membrane		g.chr13:100020049G>C	AK055110	CCDS9490.1, CCDS45064.1	13q32.3	2012-02-01	2007-04-20	2007-04-20	ENSG00000134882	ENSG00000134882			20486	protein-coding gene	gene with protein product			"""phosphoglycerate dehydrogenase like 1"""	PHGDHL1			Standard	NM_177967		Approved	FLJ30548, RP11-178C10.1	uc001voa.4	Q8NBM4	OTTHUMG00000017267	ENST00000403766.3:c.816G>C	13.37:g.100020049G>C	ENSP00000383911:p.Met272Ile					UBAC2_ENST00000403766.3_Missense_Mutation_p.M272I|UBAC2_ENST00000460562.1_3'UTR	p.M237I	NM_177967.3	NP_808882.1	Q8NBM4	UBAC2_HUMAN			6	1214	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		272					B3KNV7|Q0VAB5|Q5W0W6|Q5W0W9|Q6GQR2|Q6P4B0|Q8N2E8|Q96NW2	Missense_Mutation	SNP	ENST00000403766.3	37	c.711G>C	CCDS45064.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.104362	0.37145	.	.	ENSG00000134882	ENST00000403766;ENST00000355700;ENST00000376440	.	.	.	5.67	3.88	0.44766	.	0.249310	0.46758	N	0.000276	T	0.28433	0.0703	N	0.17674	0.51	0.33715	D	0.616261	B;B;B;B	0.14805	0.0;0.011;0.0;0.0	B;B;B;B	0.13407	0.001;0.009;0.001;0.0	T	0.29852	-0.9998	8	.	.	.	-18.991	8.0028	0.30308	0.0867:0.1597:0.7535:0.0	.	202;237;272;272	B7Z6T7;Q8NBM4-2;A8K2S7;Q8NBM4	.;.;.;UBAC2_HUMAN	I	272;138;237	.	.	M	+	3	0	UBAC2	98818050	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.536000	0.36072	1.340000	0.45581	0.561000	0.74099	ATG		0.448	UBAC2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045588.1	NM_177967		5	20	0	0	0	1	0	5	20				
OR52R1	119695	broad.mit.edu	37	11	4825505	4825505	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr11:4825505C>T	ENST00000356069.2	-	1	105	c.106G>A	c.(106-108)Gcc>Acc	p.A36T	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000380382.1_Missense_Mutation_p.A115T	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	36						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCATACGTGGCACAGAACGGA	0.512																																						ENST00000380382.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29						c.(343-345)Gcc>Acc		olfactory receptor, family 52, subfamily R, member 1							92.0	82.0	86.0					11																	4825505		2201	4298	6499	SO:0001583	missense	119695				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4825505C>T	BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"""GPCR / Class A : Olfactory receptors"""	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.106G>A	11.37:g.4825505C>T	ENSP00000348368:p.Ala36Thr					MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.A36T|MMP26_ENST00000477339.1_Intron	p.A115T			Q8NGF1	O52R1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	342	-		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)	36					Q6IFI0	Missense_Mutation	SNP	ENST00000356069.2	37	c.343G>A	CCDS31360.2	.	.	.	.	.	.	.	.	.	.	C	12.24	1.879793	0.33162	.	.	ENSG00000176937	ENST00000356069;ENST00000380382	T;T	0.00216	8.53;8.53	5.57	2.68	0.31781	.	0.653399	0.13381	N	0.392170	T	0.00073	0.0002	N	0.04686	-0.185	0.20563	N	0.999888	P	0.34800	0.469	B	0.30646	0.118	T	0.01720	-1.1288	10	0.29301	T	0.29	.	4.3931	0.11350	0.1503:0.5496:0.0:0.3002	.	36	Q8NGF1	O52R1_HUMAN	T	36;115	ENSP00000348368:A36T;ENSP00000369742:A115T	ENSP00000348368:A36T	A	-	1	0	OR52R1	4782081	0.000000	0.05858	0.985000	0.45067	0.253000	0.25986	-1.694000	0.01915	0.924000	0.37069	0.650000	0.86243	GCC		0.512	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142183.1	NM_001005177		6	21	0	0	0	1	0	6	21				
EML3	256364	broad.mit.edu	37	11	62374514	62374514	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr11:62374514G>C	ENST00000394773.2	-	12	1727	c.1420C>G	c.(1420-1422)Ctc>Gtc	p.L474V	EML3_ENST00000278845.4_Missense_Mutation_p.L475V|EML3_ENST00000438258.1_5'UTR|EML3_ENST00000494176.2_Missense_Mutation_p.L446V|EML3_ENST00000531557.1_Missense_Mutation_p.L257V|EML3_ENST00000529309.1_Missense_Mutation_p.L474V|RP11-831H9.3_ENST00000532626.1_RNA	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	474						cytoplasm (GO:0005737)|microtubule (GO:0005874)				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TCTCCAGTGAGAATGTCTCCA	0.552																																						ENST00000394773.2																			0				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1420-1422)Ctc>Gtc		echinoderm microtubule associated protein like 3							83.0	86.0	85.0					11																	62374514		2202	4299	6501	SO:0001583	missense	256364					cytoplasm|microtubule	protein binding	g.chr11:62374514G>C	AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"""WD repeat domain containing"""	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.1420C>G	11.37:g.62374514G>C	ENSP00000378254:p.Leu474Val					EML3_ENST00000278845.4_Missense_Mutation_p.L475V|EML3_ENST00000438258.1_5'UTR|EML3_ENST00000494176.2_Missense_Mutation_p.L446V|EML3_ENST00000529309.1_Missense_Mutation_p.L474V|EML3_ENST00000531557.1_Missense_Mutation_p.L257V	p.L474V	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN			12	1727	-			474					Q6ZQW7|Q8NA55	Missense_Mutation	SNP	ENST00000394773.2	37	c.1420C>G	CCDS8023.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.18|14.18	2.459201|2.459201	0.43634|0.43634	.|.	.|.	ENSG00000149499|ENSG00000149499	ENST00000394773;ENST00000278845;ENST00000531557;ENST00000494176;ENST00000529309|ENST00000394776	T;T;T;T;T|.	0.38401|.	1.14;1.14;1.63;1.63;1.63|.	5.22|5.22	5.22|5.22	0.72569|0.72569	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.58921|0.58921	0.2156|0.2156	L|L	0.37697|0.37697	1.125|1.125	0.43902|0.43902	D|D	0.996538|0.996538	P;P;B;D;P|.	0.69078|.	0.924;0.876;0.052;0.997;0.734|.	P;P;B;D;B|.	0.72625|.	0.664;0.463;0.063;0.978;0.302|.	T|T	0.54695|0.54695	-0.8255|-0.8255	10|5	0.21014|.	T|.	0.42|.	-11.8851|-11.8851	16.2719|16.2719	0.82626|0.82626	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	474;474;257;475;446|.	Q32P44-2;Q32P44;G3V195;B7WPE2;G3V1D0|.	.;EMAL3_HUMAN;.;.;.|.	V|C	474;475;257;446;474|468	ENSP00000378254:L474V;ENSP00000278845:L475V;ENSP00000433417:L257V;ENSP00000435064:L446V;ENSP00000434513:L474V|.	ENSP00000278845:L475V|.	L|S	-|-	1|2	0|0	EML3|EML3	62131090|62131090	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	4.420000|4.420000	0.59841|0.59841	2.447000|2.447000	0.82792|0.82792	0.467000|0.467000	0.42956|0.42956	CTC|TCT		0.552	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1	NM_153265		27	90	0	0	0	1	0	27	90				
SPO11	23626	broad.mit.edu	37	20	55917836	55917836	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr20:55917836G>T	ENST00000371263.3	+	12	1120	c.1011G>T	c.(1009-1011)atG>atT	p.M337I	SPO11_ENST00000371260.4_Missense_Mutation_p.M295I|SPO11_ENST00000345868.4_Missense_Mutation_p.M299I	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	337					DNA catabolic process, endonucleolytic (GO:0000737)|female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|ovarian follicle development (GO:0001541)|protein localization to chromosome (GO:0034502)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|hydrolase activity (GO:0016787)			autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			GGGACCAAATGAAACTTGACA	0.333								Editing and processing nucleases																														ENST00000371263.3																			0				autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18						c.(1009-1011)atG>atT	Editing and processing nucleases	SPO11 meiotic protein covalently bound to DSB							99.0	89.0	93.0					20																	55917836		2203	4298	6501	SO:0001583	missense	23626				female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity	g.chr20:55917836G>T	AF169385	CCDS13456.1, CCDS13457.1	20q13.31	2013-06-05	2013-06-05		ENSG00000054796	ENSG00000054796			11250	protein-coding gene	gene with protein product	"""cancer/testis antigen 35"", ""spermatogenesis associated 43"""	605114	"""SPO11, meiotic protein covalently bound to DSB (S. cerevisiae)-like"", ""SPO11 meiotic protein covalently bound to DSB-like (S. cerevisiae)"", ""SPO11 meiotic protein covalently bound to DSB homolog (S. cerevisiae)"""			10534401	Standard	NM_012444		Approved	CT35, SPATA43, TOPVIA	uc002xye.3	Q9Y5K1	OTTHUMG00000032817	ENST00000371263.3:c.1011G>T	20.37:g.55917836G>T	ENSP00000360310:p.Met337Ile					SPO11_ENST00000345868.4_Missense_Mutation_p.M299I|SPO11_ENST00000371260.4_Missense_Mutation_p.M295I	p.M337I	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)		12	1120	+	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		337					Q5TCI1|Q8N4V0|Q9NQM7|Q9NQM8	Missense_Mutation	SNP	ENST00000371263.3	37	c.1011G>T	CCDS13456.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.816938	0.32145	.	.	ENSG00000054796	ENST00000371263;ENST00000345868;ENST00000371260	T;T;T	0.28255	1.62;1.62;1.62	5.15	4.19	0.49359	.	0.307141	0.43919	N	0.000504	T	0.21631	0.0521	L	0.41236	1.265	0.32549	N	0.532652	P;B	0.35226	0.491;0.239	B;B	0.27076	0.076;0.035	T	0.33343	-0.9872	10	0.59425	D	0.04	-16.1574	8.9462	0.35760	0.0804:0.0:0.7371:0.1825	.	299;337	Q9Y5K1-2;Q9Y5K1	.;SPO11_HUMAN	I	337;299;295	ENSP00000360310:M337I;ENSP00000316034:M299I;ENSP00000360307:M295I	ENSP00000316034:M299I	M	+	3	0	SPO11	55351243	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	2.842000	0.48230	1.296000	0.44742	0.591000	0.81541	ATG		0.333	SPO11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079836.2	NM_012444		3	15	1	0	1	1	1	3	15				
PRTG	283659	broad.mit.edu	37	15	55919293	55919293	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr15:55919293G>C	ENST00000389286.4	-	17	2887	c.2840C>G	c.(2839-2841)tCa>tGa	p.S947*		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GCCAGTCATTGATTTTTGGTC	0.358																																						ENST00000389286.4																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41						c.(2839-2841)tCa>tGa		protogenin							107.0	105.0	106.0					15																	55919293		1911	4120	6031	SO:0001587	stop_gained	283659				multicellular organismal development	integral to membrane		g.chr15:55919293G>C	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.2840C>G	15.37:g.55919293G>C	ENSP00000373937:p.Ser947*						p.S947*	NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	17	2887	-			947						Nonsense_Mutation	SNP	ENST00000389286.4	37	c.2840C>G	CCDS42040.1	.	.	.	.	.	.	.	.	.	.	G	41	8.655188	0.98901	.	.	ENSG00000166450	ENST00000389286	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-14.8814	17.6591	0.88187	0.0:0.0:1.0:0.0	.	.	.	.	X	947	.	ENSP00000373937:S947X	S	-	2	0	PRTG	53706585	1.000000	0.71417	0.422000	0.26621	0.993000	0.82548	8.723000	0.91458	2.422000	0.82143	0.557000	0.71058	TCA		0.358	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		10	33	0	0	0	1	0	10	33				
CYTH1	9267	broad.mit.edu	37	17	76694913	76694913	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr17:76694913C>T	ENST00000446868.3	-	8	758	c.688G>A	c.(688-690)Gag>Aag	p.E230K	CYTH1_ENST00000591455.1_Missense_Mutation_p.E230K|CYTH1_ENST00000585509.1_Missense_Mutation_p.E171K|CYTH1_ENST00000589297.1_Missense_Mutation_p.E171K|CYTH1_ENST00000361101.4_Missense_Mutation_p.E230K|CYTH1_ENST00000589296.1_Intron|RNU6-638P_ENST00000516582.1_RNA			Q15438	CYH1_HUMAN	cytohesin 1	230					establishment of epithelial cell polarity (GO:0090162)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						CGGAGGAGCTCCTCCGGCAGG	0.488																																						ENST00000589297.1																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						c.(511-513)Gag>Aag		cytohesin 1							154.0	158.0	157.0					17																	76694913		2203	4300	6503	SO:0001583	missense	9267				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr17:76694913C>T	M85169	CCDS32754.1, CCDS42392.2	17q25	2014-05-02	2008-08-14	2008-08-14	ENSG00000108669	ENSG00000108669		"""Pleckstrin homology (PH) domain containing"""	9501	protein-coding gene	gene with protein product		182115	"""pleckstrin homology, Sec7 and coiled-coil domains 1"""	PSCD1		1511013, 8449036, 21628335, 20018626	Standard	XM_006722180		Approved	B2-1, D17S811E, cytohesin-1	uc002jvw.3	Q15438	OTTHUMG00000150253	ENST00000446868.3:c.688G>A	17.37:g.76694913C>T	ENSP00000389095:p.Glu230Lys					CYTH1_ENST00000585509.1_Missense_Mutation_p.E171K|CYTH1_ENST00000361101.4_Missense_Mutation_p.E230K|CYTH1_ENST00000591455.1_Missense_Mutation_p.E230K|CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000446868.3_Missense_Mutation_p.E230K	p.E171K			Q15438	CYH1_HUMAN			8	1203	-			230			SEC7.		A6NFW7|B7Z1T4|Q9P123|Q9P124	Missense_Mutation	SNP	ENST00000446868.3	37	c.511G>A		.	.	.	.	.	.	.	.	.	.	C	20.5	4.006588	0.74932	.	.	ENSG00000108669	ENST00000446868;ENST00000361101;ENST00000539525;ENST00000537048;ENST00000262763;ENST00000392453	T;T	0.59364	0.27;0.27	4.8	4.8	0.61643	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.142303	0.64402	D	0.000006	T	0.76212	0.3956	M	0.89904	3.07	0.80722	D	1	B;B	0.31859	0.343;0.295	P;B	0.45971	0.499;0.419	T	0.80504	-0.1353	10	0.87932	D	0	.	18.0608	0.89377	0.0:1.0:0.0:0.0	.	230;230	Q15438;Q15438-2	CYH1_HUMAN;.	K	230;230;171;171;230;67	ENSP00000389095:E230K;ENSP00000354398:E230K	ENSP00000262763:E230K	E	-	1	0	CYTH1	74206508	1.000000	0.71417	1.000000	0.80357	0.640000	0.38277	7.542000	0.82095	2.465000	0.83290	0.655000	0.94253	GAG		0.488	CYTH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317099.1	NM_004762		58	128	0	0	0	1	0	58	128				
TENM2	57451	broad.mit.edu	37	5	167642273	167642273	+	Silent	SNP	G	G	A	rs374089694		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr5:167642273G>A	ENST00000518659.1	+	21	4113	c.4074G>A	c.(4072-4074)ccG>ccA	p.P1358P	TENM2_ENST00000520394.1_Silent_p.P1119P|TENM2_ENST00000403607.2_Silent_p.P1182P|TENM2_ENST00000545108.1_Silent_p.P1357P|TENM2_ENST00000519204.1_Silent_p.P1237P	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1358					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										TGATGAGCCCGAGAGGTAAAG	0.537																																						ENST00000519204.1																			0											c.(3709-3711)ccG>ccA		teneurin transmembrane protein 2		A		0,3900		0,0,1950	68.0	73.0	71.0		4047	-9.8	0.0	5		71	1,8309		0,1,4154	no	coding-synonymous	ODZ2	NM_001122679.1		0,1,6104	AA,AG,GG		0.012,0.0,0.0082		1349/2766	167642273	1,12209	1950	4155	6105	SO:0001819	synonymous_variant	57451							g.chr5:167642273G>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.4074G>A	5.37:g.167642273G>A						TENM2_ENST00000520394.1_Silent_p.P1119P|TENM2_ENST00000518659.1_Silent_p.P1358P|TENM2_ENST00000403607.2_Silent_p.P1182P|TENM2_ENST00000545108.1_Silent_p.P1357P	p.P1237P							20	3829	+								Q9ULU2	Silent	SNP	ENST00000518659.1	37	c.3711G>A																																																																																					0.537	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		17	51	0	0	0	1	0	17	51				
NOXRED1	122945	broad.mit.edu	37	14	77873011	77873011	+	Intron	SNP	T	T	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr14:77873011T>A	ENST00000380835.2	-	4	849				NOXRED1_ENST00000298358.3_Silent_p.P246P	NM_001113475.2	NP_001106946.1	Q6NXP6	NXRD1_HUMAN	NADP-dependent oxidoreductase domain containing 1						proline biosynthetic process (GO:0006561)		pyrroline-5-carboxylate reductase activity (GO:0004735)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						AAGATAGCAATGGGCCAACAG	0.443																																						ENST00000298358.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						c.(736-738)ccA>ccT		NADP-dependent oxidoreductase domain containing 1							77.0	68.0	71.0					14																	77873011		2203	4300	6503	SO:0001627	intron_variant	122945				proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity	g.chr14:77873011T>A	AK057371	CCDS45142.1	14q24.3	2011-09-30	2011-09-30	2011-09-30	ENSG00000165555	ENSG00000165555			20487	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 148"""	C14orf148			Standard	NM_001113475		Approved	FLJ32809	uc001xtr.3	Q6NXP6	OTTHUMG00000171554	ENST00000380835.2:c.682+55A>T	14.37:g.77873011T>A						NOXRED1_ENST00000380835.2_Intron	p.P246P			Q6NXP6	CN148_HUMAN			4	737	-			0					B3KQ47|O95435	Silent	SNP	ENST00000380835.2	37	c.738A>T	CCDS45142.1																																																																																				0.443	NOXRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414103.1	NM_138791		15	42	0	0	0	1	0	15	42				
LRRC36	55282	broad.mit.edu	37	16	67410682	67410682	+	Silent	SNP	G	G	A	rs371561086		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr16:67410682G>A	ENST00000329956.6	+	11	1732	c.1713G>A	c.(1711-1713)ccG>ccA	p.P571P	LRRC36_ENST00000541146.1_Intron|LRRC36_ENST00000563189.1_Silent_p.P450P|LRRC36_ENST00000435835.3_Intron|LRRC36_ENST00000290940.7_Intron	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	571										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		CTTCTCAGCCGAGGTGTTGCT	0.527																																						ENST00000329956.6																			0				endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24						c.(1711-1713)ccG>ccA		leucine rich repeat containing 36		G	,	0,4396		0,0,2198	186.0	171.0	176.0		1350,1713	3.5	1.0	16		176	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	LRRC36	NM_001161575.1,NM_018296.5	,	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	,	450/634,571/755	67410682	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	55282							g.chr16:67410682G>A	BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.1713G>A	16.37:g.67410682G>A						LRRC36_ENST00000563189.1_Silent_p.P450P|LRRC36_ENST00000541146.1_Intron|LRRC36_ENST00000290940.7_Intron|LRRC36_ENST00000435835.3_Intron	p.P571P	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)	11	1732	+		Ovarian(137;0.192)	571					A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Silent	SNP	ENST00000329956.6	37	c.1713G>A	CCDS32467.1																																																																																				0.527	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421770.1	NM_018296		22	81	0	0	0	1	0	22	81				
TTC29	83894	broad.mit.edu	37	4	147824762	147824762	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr4:147824762T>C	ENST00000325106.4	-	6	746	c.520A>G	c.(520-522)Aaa>Gaa	p.K174E	TTC29_ENST00000513335.1_Missense_Mutation_p.K200E|TTC29_ENST00000398886.4_Missense_Mutation_p.K200E	NM_031956.2	NP_114162.2	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	174										breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CAGTCAATTTTGATCAGCTGA	0.438																																						ENST00000513335.1																			0				breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26						c.(598-600)Aaa>Gaa		tetratricopeptide repeat domain 29							99.0	96.0	97.0					4																	147824762		1895	4119	6014	SO:0001583	missense	83894						binding	g.chr4:147824762T>C	AF345910	CCDS47141.1, CCDS75200.1	4q31.23	2013-01-11				ENSG00000137473		"""Tetratricopeptide (TTC) repeat domain containing"""	29936	protein-coding gene	gene with protein product						12477932	Standard	NM_031956		Approved	NYD-SP14	uc003ikw.4	Q8NA56		ENST00000325106.4:c.520A>G	4.37:g.147824762T>C	ENSP00000316740:p.Lys174Glu					TTC29_ENST00000398886.4_Missense_Mutation_p.K200E|TTC29_ENST00000325106.4_Missense_Mutation_p.K174E	p.K200E			Q8NA56	TTC29_HUMAN			7	797	-	all_hematologic(180;0.151)		174					A4GU95|Q9BXB6	Missense_Mutation	SNP	ENST00000325106.4	37	c.598A>G	CCDS47141.1	.	.	.	.	.	.	.	.	.	.	T	12.90	2.077897	0.36662	.	.	ENSG00000137473	ENST00000513335;ENST00000398886;ENST00000325106;ENST00000398883;ENST00000504425	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	5.62	3.0	0.34707	.	0.232859	0.41823	D	0.000810	T	0.13970	0.0338	L	0.53249	1.67	0.28991	N	0.888028	P;P;P	0.45715	0.495;0.865;0.665	B;B;B	0.39503	0.104;0.301;0.177	T	0.09058	-1.0692	10	0.26408	T	0.33	-27.5771	7.0465	0.25048	0.0:0.0735:0.2803:0.6461	.	174;200;174	E7EQ14;G5E9Z5;Q8NA56	.;.;TTC29_HUMAN	E	200;200;174;174;174	ENSP00000423505:K200E;ENSP00000381861:K200E;ENSP00000316740:K174E;ENSP00000425778:K174E	ENSP00000316740:K174E	K	-	1	0	TTC29	148044212	1.000000	0.71417	0.998000	0.56505	0.537000	0.34900	1.454000	0.35178	0.936000	0.37367	0.528000	0.53228	AAA		0.438	TTC29-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_031956		4	7	0	0	0	1	0	4	7				
PCNX	22990	broad.mit.edu	37	14	71444820	71444820	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr14:71444820C>G	ENST00000304743.2	+	6	2212	c.1766C>G	c.(1765-1767)aCc>aGc	p.T589S	PCNX_ENST00000238570.5_Missense_Mutation_p.T589S|PCNX_ENST00000439984.3_Missense_Mutation_p.T589S	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	589						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GTTTCTGGTACCAAGCCACAC	0.478																																						ENST00000304743.2																			0				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(1765-1767)aCc>aGc		pecanex homolog (Drosophila)							114.0	107.0	109.0					14																	71444820		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71444820C>G	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.1766C>G	14.37:g.71444820C>G	ENSP00000304192:p.Thr589Ser					PCNX_ENST00000238570.5_Missense_Mutation_p.T589S|PCNX_ENST00000439984.3_Missense_Mutation_p.T589S	p.T589S	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	6	2212	+			589					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.1766C>G	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.464841	0.43839	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.00976	5.48;5.48;5.48	5.87	4.96	0.65561	.	0.321321	0.33144	N	0.005238	T	0.00906	0.0030	N	0.24115	0.695	0.43913	D	0.99655	B;B;B	0.17667	0.008;0.008;0.023	B;B;B	0.16289	0.012;0.007;0.015	T	0.46275	-0.9203	10	0.02654	T	1	.	16.8155	0.85733	0.0:0.8712:0.1288:0.0	.	589;589;589	B2RTR6;Q96RV3;Q96RV3-2	.;PCX1_HUMAN;.	S	589	ENSP00000304192:T589S;ENSP00000238570:T589S;ENSP00000396617:T589S	ENSP00000238570:T589S	T	+	2	0	PCNX	70514573	1.000000	0.71417	0.989000	0.46669	0.841000	0.47740	3.630000	0.54273	1.446000	0.47643	0.655000	0.94253	ACC		0.478	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		15	54	0	0	0	1	0	15	54				
AGER	177	broad.mit.edu	37	6	32148967	32148967	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:32148967G>A	ENST00000375076.4	-	11	1269	c.1168C>T	c.(1168-1170)Cag>Tag	p.Q390*	AGER_ENST00000375065.5_3'UTR|AGER_ENST00000375069.3_Nonsense_Mutation_p.Q280*|AGER_ENST00000375067.3_Missense_Mutation_p.S338L|AGER_ENST00000375070.3_Nonsense_Mutation_p.Q421*|AGER_ENST00000375055.2_3'UTR|RNF5_ENST00000427134.2_Intron|AGER_ENST00000438221.2_3'UTR	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	390					cell surface receptor signaling pathway (GO:0007166)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|neuron projection development (GO:0031175)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|response to wounding (GO:0009611)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|receptor activity (GO:0004872)|S100 protein binding (GO:0044548)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						TCCTCCGACTGATTCAGTTCT	0.572																																						ENST00000375076.4																			0				breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						c.(1168-1170)Cag>Tag		advanced glycosylation end product-specific receptor							176.0	186.0	183.0					6																	32148967		2203	4300	6503	SO:0001587	stop_gained	177				cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity	g.chr6:32148967G>A	M91211	CCDS4746.1, CCDS4747.1, CCDS56417.1, CCDS56418.1, CCDS75429.1	6p21.3	2013-01-29			ENSG00000204305	ENSG00000204305		"""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	320	protein-coding gene	gene with protein product		600214				7713518	Standard	NM_001136		Approved	RAGE	uc003oap.2	Q15109	OTTHUMG00000031120	ENST00000375076.4:c.1168C>T	6.37:g.32148967G>A	ENSP00000364217:p.Gln390*					AGER_ENST00000375055.2_3'UTR|AGER_ENST00000375067.3_Missense_Mutation_p.S338L|AGER_ENST00000375069.3_Nonsense_Mutation_p.Q280*|AGER_ENST00000375070.3_Nonsense_Mutation_p.Q421*|RNF5_ENST00000427134.2_Intron|AGER_ENST00000438221.2_3'UTR|AGER_ENST00000375065.5_3'UTR	p.Q390*	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN			11	1269	-			390					A2BFI7|A6NKF0|A7Y2U9|B0V176|Q15279|Q3L1R4|Q3L1R5|Q3L1R6|Q3L1R7|Q3L1R8|Q3L1S0|Q86SN1|Q9H2X7|Q9Y3R3|V5R6A3	Nonsense_Mutation	SNP	ENST00000375076.4	37	c.1168C>T	CCDS4746.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.436508|5.436508	0.96168|0.96168	.|.	.|.	ENSG00000204305|ENSG00000204305	ENST00000375076;ENST00000375070;ENST00000546237;ENST00000375069;ENST00000375059|ENST00000375067	.|D	.|0.85339	.|-1.97	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	0.000000|.	0.56097|.	D|.	0.000032|.	.|T	.|0.78799	.|0.4340	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|P	.|0.37330	.|0.59	.|B	.|0.38954	.|0.286	.|T	.|0.83180	.|-0.0089	.|8	0.87932|0.87932	D|D	0|0	-17.039|-17.039	14.4774|14.4774	0.67557|0.67557	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|338	.|Q15109-2	.|.	X|L	390;421;139;280;119|338	.|ENSP00000364208:S338L	ENSP00000364199:Q119X|ENSP00000364208:S338L	Q|S	-|-	1|2	0|0	AGER|AGER	32256945|32256945	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.844000|0.844000	0.47949|0.47949	3.283000|3.283000	0.51701|0.51701	2.481000|2.481000	0.83766|0.83766	0.563000|0.563000	0.77884|0.77884	CAG|TCA		0.572	AGER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076200.1	NM_001136		62	206	0	0	0	1	0	62	206				
RHCE	6006	broad.mit.edu	37	1	25717249	25717249	+	Silent	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:25717249C>T	ENST00000294413.7	-	5	850	c.792G>A	c.(790-792)aaG>aaA	p.K264K	RHCE_ENST00000425135.1_Silent_p.K264K|RHCE_ENST00000340849.4_Intron|RHCE_ENST00000346452.4_Intron|RHCE_ENST00000413854.1_Silent_p.K264K|RHCE_ENST00000349320.3_Silent_p.K248K|RHCE_ENST00000243186.6_Silent_p.K264K|RHCE_ENST00000374352.2_Silent_p.K248K|RHCE_ENST00000349438.4_Silent_p.K264K|RHCE_ENST00000455194.1_Intron	NM_020485.4	NP_065231	P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	264						integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)			endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		CCATGCTGATCTTCCTTTGGG	0.557																																						ENST00000349320.3																			0				endometrium(8)|large_intestine(6)|lung(3)	17						c.(742-744)aaG>aaA		Rh blood group, CcEe antigens							142.0	122.0	128.0					1																	25717249		2203	4300	6503	SO:0001819	synonymous_variant	6006					integral to plasma membrane		g.chr1:25717249C>T	BC075081	CCDS30634.1, CCDS30635.1, CCDS30636.1, CCDS30637.1	1p36.11	2014-09-17	2006-02-23		ENSG00000188672	ENSG00000188672		"""CD molecules"", ""Blood group antigens"""	10008	protein-coding gene	gene with protein product		111700	"""Rhesus blood group, CcEe antigens"""	RH		8220426	Standard	NM_138618		Approved	CD240CE	uc001bkf.3	P18577	OTTHUMG00000007650	ENST00000294413.7:c.792G>A	1.37:g.25717249C>T						RHCE_ENST00000349438.4_Silent_p.K264K|RHCE_ENST00000346452.4_Intron|RHCE_ENST00000413854.1_Silent_p.K264K|RHCE_ENST00000243186.6_Silent_p.K264K|RHCE_ENST00000340849.4_Intron|RHCE_ENST00000294413.7_Silent_p.K264K|RHCE_ENST00000455194.1_Intron|RHCE_ENST00000425135.1_Silent_p.K264K|RHCE_ENST00000374352.2_Silent_p.K248K	p.K248K			P18577	RHCE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)	7	1132	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	264					A7DW68|B7UDF3|B7UDF4|B7UDF5|B7UDF6|B7UDF7|B7UDF8|B7UDF9|B7UDG0|B7UDG1|B7UDG2|B7UDG3|Q02163|Q02164|Q02165|Q16160|Q2MJW0|Q2VC86|Q3LTM6|Q6AZX5|Q6J2U3|Q7RU06|Q8IZT2|Q8IZT3|Q8IZT4|Q8IZT5|Q9UD13|Q9UD14|Q9UD15|Q9UD16|Q9UD73|Q9UD74|Q9UEC2|Q9UEC3|Q9UPN0	Silent	SNP	ENST00000294413.7	37	c.744G>A	CCDS30635.1																																																																																				0.557	RHCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020312.2	NM_020485		36	100	0	0	0	1	0	36	100				
ORC6	23594	broad.mit.edu	37	16	46731459	46731459	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr16:46731459G>A	ENST00000219097.2	+	7	781	c.721G>A	c.(721-723)Gaa>Aaa	p.E241K	ORC6_ENST00000575571.1_3'UTR|ORC6_ENST00000566860.1_Missense_Mutation_p.E192K|ORC6_ENST00000568364.2_3'UTR	NM_014321.3	NP_055136.1	Q9Y5N6	ORC6_HUMAN	origin recognition complex, subunit 6	241					DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	membrane (GO:0016020)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|origin recognition complex (GO:0000808)	DNA binding (GO:0003677)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	8						AAAAATTTTGGAAAATGCTGC	0.398																																						ENST00000566860.1																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	8						c.(574-576)Gaa>Aaa		origin recognition complex, subunit 6							67.0	65.0	66.0					16																	46731459		2203	4300	6503	SO:0001583	missense	23594				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA binding|protein binding	g.chr16:46731459G>A	AF139658	CCDS10722.1	16q12	2010-10-12	2010-10-12	2010-10-12	ENSG00000091651	ENSG00000091651			17151	protein-coding gene	gene with protein product		607213	"""origin recognition complex, subunit 6 homolog-like (yeast)"", ""origin recognition complex, subunit 6 like (yeast)"""	ORC6L		10945994	Standard	NM_014321		Approved		uc002eeh.3	Q9Y5N6	OTTHUMG00000132539	ENST00000219097.2:c.721G>A	16.37:g.46731459G>A	ENSP00000219097:p.Glu241Lys					ORC6_ENST00000568364.2_3'UTR|ORC6_ENST00000219097.2_Missense_Mutation_p.E241K|ORC6_ENST00000575571.1_3'UTR	p.E192K			Q9Y5N6	ORC6_HUMAN			6	861	+			241					B3KN89	Missense_Mutation	SNP	ENST00000219097.2	37	c.574G>A	CCDS10722.1	.	.	.	.	.	.	.	.	.	.	G	34	5.368381	0.95900	.	.	ENSG00000091651	ENST00000219097	T	0.71461	-0.57	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.78635	0.4314	M	0.77103	2.36	0.58432	D	0.999999	D	0.53312	0.959	P	0.47744	0.556	T	0.80984	-0.1138	10	0.59425	D	0.04	.	19.6735	0.95921	0.0:0.0:1.0:0.0	.	241	Q9Y5N6	ORC6_HUMAN	K	241	ENSP00000219097:E241K	ENSP00000219097:E241K	E	+	1	0	ORC6	45288960	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.982000	0.76173	2.736000	0.93811	0.655000	0.94253	GAA		0.398	ORC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255739.3			10	22	0	0	0	1	0	10	22				
SLC4A4	8671	broad.mit.edu	37	4	72102335	72102335	+	Silent	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr4:72102335C>G	ENST00000264485.5	+	2	159	c.42C>G	c.(40-42)ctC>ctG	p.L14L	SLC4A4_ENST00000351898.6_Silent_p.L14L|SLC4A4_ENST00000425175.1_Silent_p.L14L	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	14					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	CTTCCTTCCTCAAGCATGTGT	0.423																																						ENST00000425175.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(40-42)ctC>ctG		solute carrier family 4 (sodium bicarbonate cotransporter), member 4							116.0	118.0	117.0					4																	72102335		1886	4107	5993	SO:0001819	synonymous_variant	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72102335C>G	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.42C>G	4.37:g.72102335C>G						SLC4A4_ENST00000264485.5_Silent_p.L14L|SLC4A4_ENST00000351898.6_Silent_p.L14L	p.L14L	NM_001134742.1	NP_001128214.1	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		2	159	+			14					C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Silent	SNP	ENST00000264485.5	37	c.42C>G	CCDS43236.1																																																																																				0.423	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		6	34	0	0	0	1	0	6	34				
SRRT	51593	broad.mit.edu	37	7	100482979	100482979	+	Silent	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr7:100482979C>T	ENST00000347433.4	+	10	1463	c.1305C>T	c.(1303-1305)gcC>gcT	p.A435A	SRRT_ENST00000457580.2_Silent_p.A435A|SRRT_ENST00000388793.4_Silent_p.A434A|SRRT_ENST00000432932.1_Silent_p.A434A			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	435					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TCTCCCGGGCCGAGATCATCT	0.652																																						ENST00000388793.4																			0				breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(1300-1302)gcC>gcT		serrate RNA effector molecule homolog (Arabidopsis)							36.0	36.0	36.0					7																	100482979		2203	4300	6503	SO:0001819	synonymous_variant	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100482979C>T		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.1305C>T	7.37:g.100482979C>T						SRRT_ENST00000347433.4_Silent_p.A435A|SRRT_ENST00000457580.2_Silent_p.A435A|SRRT_ENST00000432932.1_Silent_p.A434A	p.A434A	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN			10	1522	+			435					A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Silent	SNP	ENST00000347433.4	37	c.1302C>T	CCDS34709.1																																																																																				0.652	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		13	44	0	0	0	1	0	13	44				
LRRTM1	347730	broad.mit.edu	37	2	80530254	80530254	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr2:80530254G>T	ENST00000295057.3	-	2	1347	c.691C>A	c.(691-693)Cgc>Agc	p.R231S	LRRTM1_ENST00000409148.1_Missense_Mutation_p.R231S|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	231					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.R231C(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GAGATGAGGCGCGGGAAGTGG	0.582										HNSCC(69;0.2)																												ENST00000295057.3																			2	Substitution - Missense(2)	p.R231C(2)	large_intestine(2)	NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						c.(691-693)Cgc>Agc		leucine rich repeat transmembrane neuronal 1							107.0	103.0	104.0					2																	80530254		2203	4300	6503	SO:0001583	missense	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530254G>T	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.691C>A	2.37:g.80530254G>T	ENSP00000295057:p.Arg231Ser	HNSCC(69;0.2)				CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.R231S|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron	p.R231S	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN			2	1347	-			231					A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	c.691C>A	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.573146	0.65765	.	.	ENSG00000162951	ENST00000295057;ENST00000409148	T;T	0.78816	-1.21;-1.21	5.26	5.26	0.73747	.	0.000000	0.85682	U	0.000000	D	0.85927	0.5811	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85688	0.1305	9	.	.	.	.	13.6989	0.62597	0.0:0.0:0.8066:0.1934	.	231	Q86UE6	LRRT1_HUMAN	S	231	ENSP00000295057:R231S;ENSP00000386646:R231S	.	R	-	1	0	LRRTM1	80383765	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.178000	0.71968	2.416000	0.81992	0.655000	0.94253	CGC		0.582	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		25	73	1	0	1.42536e-11	1	1.60353e-11	25	73				
PTPN7	5778	broad.mit.edu	37	1	202124662	202124662	+	Splice_Site	SNP	C	C	G	rs368406422		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:202124662C>G	ENST00000308986.5	-	5	597	c.467G>C	c.(466-468)cGa>cCa	p.R156P	PTPN7_ENST00000544762.1_Intron|PTPN7_ENST00000309017.3_Splice_Site_p.R261P|PTPN7_ENST00000492977.1_5'UTR|PTPN7_ENST00000543735.1_5'UTR|PTPN7_ENST00000367279.4_Splice_Site_p.R195P			P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7	156	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						GCCACTCACTCGGATGTAGTT	0.547																																						ENST00000309017.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						c.e5+1		protein tyrosine phosphatase, non-receptor type 7							82.0	66.0	72.0					1																	202124662		2203	4300	6503	SO:0001630	splice_region_variant	5778					cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr1:202124662C>G	BC001746	CCDS1422.1, CCDS1423.1, CCDS1423.2	1q32.1	2011-06-09			ENSG00000143851	ENSG00000143851		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9659	protein-coding gene	gene with protein product		176889				1510684	Standard	NM_002832		Approved	HEPTP, LC-PTP	uc010ppx.2	P35236	OTTHUMG00000035931	ENST00000308986.5:c.468+1G>C	1.37:g.202124662C>G						PTPN7_ENST00000367279.4_Splice_Site_p.R195_splice|PTPN7_ENST00000543735.1_5'UTR|PTPN7_ENST00000544762.1_Intron|PTPN7_ENST00000308986.5_Splice_Site_p.R156_splice|PTPN7_ENST00000492977.1_5'UTR	p.R261_splice	NM_001199797.1|NM_002832.3	NP_001186726.1|NP_002823.3	P35236	PTN7_HUMAN			5	1555	-			156			Tyrosine-protein phosphatase.		B3KXE1|Q53XK4|Q5SXQ0|Q5SXQ1|Q9BV05	Splice_Site	SNP	ENST00000308986.5	37	c.783_splice		.	.	.	.	.	.	.	.	.	.	C	22.4	4.289937	0.80914	.	.	ENSG00000143851	ENST00000367279;ENST00000309017;ENST00000308986;ENST00000477554;ENST00000476061	T;T;T;T;T	0.13657	2.57;2.57;2.57;2.57;2.83	5.26	5.26	0.73747	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.166681	0.28343	N	0.015693	T	0.28632	0.0709	L	0.38175	1.15	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;0.999;0.999;0.999	D;D;D;D;D	0.91635	0.999;0.99;0.995;0.995;0.99	T	0.01048	-1.1469	10	0.62326	D	0.03	-12.6008	15.4638	0.75381	0.0:0.8513:0.1487:0.0	.	230;104;108;156;195	B4DZD9;B4DVF0;Q8NFX3;P35236;P35236-2	.;.;.;PTN7_HUMAN;.	P	195;261;156;237;155	ENSP00000356248:R195P;ENSP00000309116:R261P;ENSP00000311133:R156P;ENSP00000418416:R237P;ENSP00000419993:R155P	ENSP00000311133:R156P	R	-	2	0	PTPN7	200391285	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	2.852000	0.48310	2.449000	0.82847	0.655000	0.94253	CGA		0.547	PTPN7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_002832	Missense_Mutation	8	20	0	0	0	1	0	8	20				
PPP3CA	5530	broad.mit.edu	37	4	101947115	101947115	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr4:101947115G>A	ENST00000394854.3	-	14	2156	c.1473C>T	c.(1471-1473)ccC>ccT	p.P491P	PPP3CA_ENST00000323055.6_Silent_p.P439P|PPP3CA_ENST00000507176.1_Silent_p.P393P|PPP3CA_ENST00000523694.2_Silent_p.P424P|PPP3CA_ENST00000512215.1_Silent_p.P259P|PPP3CA_ENST00000394853.4_Silent_p.P481P	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	491					calcineurin-NFAT signaling cascade (GO:0033173)|calcium ion transport (GO:0006816)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|multicellular organismal response to stress (GO:0033555)|negative regulation of insulin secretion (GO:0046676)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|protein import into nucleus (GO:0006606)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic transmission (GO:0050804)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|skeletal muscle fiber development (GO:0048741)|T cell activation (GO:0042110)|transition between fast and slow fiber (GO:0014883)	calcineurin complex (GO:0005955)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		TGGCGTCAGAGGGCATGGCAT	0.493																																						ENST00000394854.3																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(1471-1473)ccC>ccT		protein phosphatase 3, catalytic subunit, alpha isozyme							240.0	224.0	230.0					4																	101947115		2203	4300	6503	SO:0001819	synonymous_variant	5530				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding	g.chr4:101947115G>A		CCDS34037.1, CCDS47113.1, CCDS47114.1	4q24	2010-03-17	2010-03-05		ENSG00000138814	ENSG00000138814	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9314	protein-coding gene	gene with protein product	"""calcineurin A alpha"", ""protein phosphatase 2B, catalytic subunit, alpha isoform"""	114105	"""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform (calcineurin A alpha)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform"""	CALN, CALNA		2848250, 1659808	Standard	NM_000944		Approved	CNA1, PPP2B	uc011cen.1	Q08209	OTTHUMG00000133839	ENST00000394854.3:c.1473C>T	4.37:g.101947115G>A						PPP3CA_ENST00000394853.4_Silent_p.P481P|PPP3CA_ENST00000323055.6_Silent_p.P439P|PPP3CA_ENST00000512215.1_Silent_p.P259P|PPP3CA_ENST00000507176.1_Silent_p.P393P|PPP3CA_ENST00000523694.2_Silent_p.P424P	p.P491P	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)	14	2156	-			491					A1A441|A8K3B7|A8W6Z7|A8W6Z8|B5BUA2|Q8TAW9	Silent	SNP	ENST00000394854.3	37	c.1473C>T	CCDS34037.1																																																																																				0.493	PPP3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258379.2	NM_000944		30	118	0	0	0	1	0	30	118				
ABCA12	26154	broad.mit.edu	37	2	215809784	215809784	+	Silent	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr2:215809784G>C	ENST00000272895.7	-	49	7503	c.7284C>G	c.(7282-7284)ctC>ctG	p.L2428L	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Silent_p.L2110L	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2428	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGATCTTCCAGAGGTGCCGTT	0.383																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(7282-7284)ctC>ctG		ATP-binding cassette, sub-family A (ABC1), member 12							134.0	114.0	121.0					2																	215809784		2203	4300	6503	SO:0001819	synonymous_variant	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215809784G>C	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.7284C>G	2.37:g.215809784G>C						ABCA12_ENST00000389661.4_Silent_p.L2110L|AC072062.1_ENST00000607412.1_RNA	p.L2428L	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	49	7503	-		Renal(323;0.127)	2428			ABC transporter 2.		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	ENST00000272895.7	37	c.7284C>G	CCDS33372.1																																																																																				0.383	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		4	24	0	0	0	1	0	4	24				
DDX51	317781	broad.mit.edu	37	12	132627407	132627407	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr12:132627407G>C	ENST00000397333.3	-	3	574	c.536C>G	c.(535-537)cCa>cGa	p.P179R	NOC4L_ENST00000330579.1_5'Flank	NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	179					rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		CAGCCACCTTGGCAGGAAAGG	0.572																																						ENST00000397333.3																			0				endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(535-537)cCa>cGa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 51							69.0	75.0	73.0					12																	132627407		1974	4163	6137	SO:0001583	missense	317781				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:132627407G>C	BC040185	CCDS41865.1	12q24.33	2005-10-12				ENSG00000185163		"""DEAD-boxes"""	20082	protein-coding gene	gene with protein product							Standard	NM_175066		Approved		uc001ujy.4	Q8N8A6		ENST00000397333.3:c.536C>G	12.37:g.132627407G>C	ENSP00000380495:p.Pro179Arg						p.P179R	NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)	3	574	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)	179					A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	Missense_Mutation	SNP	ENST00000397333.3	37	c.536C>G	CCDS41865.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.831228	0.50845	.	.	ENSG00000185163	ENST00000397333	T	0.02498	4.27	4.56	4.56	0.56223	.	0.055694	0.64402	D	0.000001	T	0.11024	0.0269	L	0.54323	1.7	0.58432	D	0.999999	D	0.71674	0.998	D	0.67548	0.952	T	0.01156	-1.1434	10	0.72032	D	0.01	-5.5698	14.8393	0.70212	0.0:0.0:1.0:0.0	.	179	Q8N8A6	DDX51_HUMAN	R	179	ENSP00000380495:P179R	ENSP00000380495:P179R	P	-	2	0	DDX51	131193360	1.000000	0.71417	0.868000	0.34077	0.003000	0.03518	6.810000	0.75216	2.078000	0.62432	0.484000	0.47621	CCA		0.572	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398978.1	NM_175066		15	68	0	0	0	1	0	15	68				
BCL9	607	broad.mit.edu	37	1	147092152	147092152	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:147092152C>G	ENST00000234739.3	+	8	2931	c.2191C>G	c.(2191-2193)Cag>Gag	p.Q731E		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	731	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					ATCCAACTCTCAGATGATACC	0.537			T	"""IGH@, IGL@"""	B-ALL																																	ENST00000234739.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"""IGH@, IGL@"""		B-ALL		0				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(2191-2193)Cag>Gag		B-cell CLL/lymphoma 9							42.0	42.0	42.0					1																	147092152		2203	4300	6503	SO:0001583	missense	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147092152C>G	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.2191C>G	1.37:g.147092152C>G	ENSP00000234739:p.Gln731Glu						p.Q731E	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN			8	2931	+	all_hematologic(923;0.115)		731			Pro-rich.		Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	c.2191C>G	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.636855	0.29068	.	.	ENSG00000116128	ENST00000234739	T	0.47177	0.85	5.0	5.0	0.66597	.	0.204155	0.44688	D	0.000431	T	0.21145	0.0509	N	0.19112	0.55	0.43787	D	0.996325	B;B	0.23316	0.083;0.083	B;B	0.14578	0.011;0.011	T	0.03034	-1.1080	10	0.27785	T	0.31	-2.3616	18.493	0.90854	0.0:1.0:0.0:0.0	.	731;731	Q1JQ81;O00512	.;BCL9_HUMAN	E	731	ENSP00000234739:Q731E	ENSP00000234739:Q731E	Q	+	1	0	BCL9	145558776	1.000000	0.71417	0.901000	0.35422	0.890000	0.51754	4.617000	0.61204	2.607000	0.88179	0.655000	0.94253	CAG		0.537	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		9	24	0	0	0	1	0	9	24				
ABCA12	26154	broad.mit.edu	37	2	215852510	215852510	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr2:215852510G>A	ENST00000272895.7	-	27	4056	c.3837C>T	c.(3835-3837)taC>taT	p.Y1279Y	ABCA12_ENST00000389661.4_Silent_p.Y961Y	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1279					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTGCCATACCGTATGTCCCTG	0.413																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(3835-3837)taC>taT		ATP-binding cassette, sub-family A (ABC1), member 12							36.0	34.0	35.0					2																	215852510		2203	4300	6503	SO:0001819	synonymous_variant	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215852510G>A	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.3837C>T	2.37:g.215852510G>A						ABCA12_ENST00000389661.4_Silent_p.Y961Y	p.Y1279Y	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	27	4056	-		Renal(323;0.127)	1279					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	ENST00000272895.7	37	c.3837C>T	CCDS33372.1																																																																																				0.413	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		5	12	0	0	0	1	0	5	12				
SPINK14	408187	broad.mit.edu	37	5	147553847	147553847	+	Silent	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr5:147553847C>G	ENST00000356972.1	+	3	162	c.162C>G	c.(160-162)gtC>gtG	p.V54V	SPINK14_ENST00000562793.1_Intron	NM_001001325.1	NP_001001325.1	Q6IE38	ISK14_HUMAN	serine peptidase inhibitor, Kazal type 14 (putative)	54	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|large_intestine(1)|lung(1)	3						ATGGAACGGTCAACCCCTGCC	0.413																																						ENST00000356972.1																			0				breast(1)|large_intestine(1)|lung(1)	3						c.(160-162)gtC>gtG		serine peptidase inhibitor, Kazal type 14 (putative)							117.0	117.0	117.0					5																	147553847		1498	3127	4625	SO:0001819	synonymous_variant	408187					extracellular region	serine-type endopeptidase inhibitor activity	g.chr5:147553847C>G		CCDS4288.1	5q32	2011-08-31			ENSG00000196800	ENSG00000196800		"""Serine peptidase inhibitors, Kazal type"""	33825	protein-coding gene	gene with protein product							Standard	NM_001001325		Approved	SPINK5L2	uc031sls.1	Q6IE38	OTTHUMG00000129732	ENST00000356972.1:c.162C>G	5.37:g.147553847C>G						SPINK14_ENST00000562793.1_Intron	p.V54V	NM_001001325.1	NP_001001325.1	Q6IE38	ISK14_HUMAN			3	162	+			54			Kazal-like.			Silent	SNP	ENST00000356972.1	37	c.162C>G	CCDS4288.1																																																																																				0.413	SPINK14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251943.2	NM_001001325		16	19	0	0	0	1	0	16	19				
IGF2R	3482	broad.mit.edu	37	6	160464244	160464244	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:160464244C>A	ENST00000356956.1	+	12	1693	c.1545C>A	c.(1543-1545)ttC>ttA	p.F515L		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	515					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	AGCATTTTTTCATTAATATTT	0.478																																						ENST00000356956.1																			0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(1543-1545)ttC>ttA		insulin-like growth factor 2 receptor							142.0	132.0	136.0					6																	160464244		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160464244C>A	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.1545C>A	6.37:g.160464244C>A	ENSP00000349437:p.Phe515Leu						p.F515L	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	12	1693	+		Breast(66;0.000777)|Ovarian(120;0.0305)	515					Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.1545C>A	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.474210	0.84640	.	.	ENSG00000197081	ENST00000356956	T	0.02421	4.3	5.52	5.52	0.82312	Mannose-6-phosphate receptor, binding (1);	0.110175	0.64402	D	0.000004	T	0.04588	0.0125	L	0.48362	1.52	0.42030	D	0.991026	D	0.67145	0.996	P	0.60117	0.869	T	0.56583	-0.7955	10	0.30854	T	0.27	-19.2531	14.7023	0.69164	0.0:0.9289:0.0:0.0711	.	515	P11717	MPRI_HUMAN	L	515	ENSP00000349437:F515L	ENSP00000349437:F515L	F	+	3	2	IGF2R	160384234	1.000000	0.71417	0.919000	0.36401	0.695000	0.40330	2.115000	0.41921	2.595000	0.87683	0.655000	0.94253	TTC		0.478	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		23	62	1	0	2.89027e-11	1	3.2271e-11	23	62				
HAO1	54363	broad.mit.edu	37	20	7886943	7886943	+	Silent	SNP	A	A	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr20:7886943A>G	ENST00000378789.3	-	4	630	c.579T>C	c.(577-579)ttT>ttC	p.F193F		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	193	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CCTCAGGAGAAAATGATAAAG	0.343																																						ENST00000378789.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(577-579)ttT>ttC		hydroxyacid oxidase (glycolate oxidase) 1							75.0	76.0	76.0					20																	7886943		2203	4300	6503	SO:0001819	synonymous_variant	54363				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity	g.chr20:7886943A>G	AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.579T>C	20.37:g.7886943A>G							p.F193F	NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN			4	630	-			193			FMN hydroxy acid dehydrogenase.		Q14CQ0|Q9UPZ0|Q9Y3I7	Silent	SNP	ENST00000378789.3	37	c.579T>C	CCDS13100.1																																																																																				0.343	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2			3	16	0	0	0	1	0	3	16				
VPS13C	54832	broad.mit.edu	37	15	62226518	62226518	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr15:62226518C>A	ENST00000261517.5	-	49	5841	c.5768G>T	c.(5767-5769)tGg>tTg	p.W1923L	VPS13C_ENST00000395896.4_Missense_Mutation_p.W1923L|VPS13C_ENST00000249837.3_Missense_Mutation_p.W1880L|VPS13C_ENST00000395898.3_Missense_Mutation_p.W1880L	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TGAGTCTGTCCAATCTTCTTG	0.274																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(5767-5769)tGg>tTg		vacuolar protein sorting 13 homolog C (S. cerevisiae)							121.0	130.0	127.0					15																	62226518		2203	4297	6500	SO:0001583	missense	54832				protein localization			g.chr15:62226518C>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.5768G>T	15.37:g.62226518C>A	ENSP00000261517:p.Trp1923Leu					VPS13C_ENST00000395898.3_Missense_Mutation_p.W1880L|VPS13C_ENST00000249837.3_Missense_Mutation_p.W1880L|VPS13C_ENST00000395896.4_Missense_Mutation_p.W1923L	p.W1923L	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			49	5841	-			1923						Missense_Mutation	SNP	ENST00000261517.5	37	c.5768G>T	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	0.567	-0.842638	0.02671	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.15372	2.43;2.43;2.43	5.19	1.56	0.23342	.	1.025670	0.07740	N	0.946722	T	0.04003	0.0112	N	0.00436	-1.5	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.39165	-0.9627	10	0.06625	T	0.88	.	7.6408	0.28292	0.6507:0.2774:0.0719:0.0	.	1880;1923;1880;1923	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	L	1880;1923;1923;1923	ENSP00000249837:W1880L;ENSP00000261517:W1923L;ENSP00000379233:W1923L	ENSP00000249837:W1880L	W	-	2	0	VPS13C	60013810	0.001000	0.12720	0.001000	0.08648	0.205000	0.24178	1.263000	0.33004	0.004000	0.14682	-0.271000	0.10264	TGG		0.274	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		13	49	1	0	2.27111e-07	1	2.40043e-07	13	49				
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657																																						ENST00000391413.2																			1	Substitution - Missense(1)	p.L161V(1)	prostate(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(481-483)Ctg>Gtg		keratin associated protein 4-11							17.0	21.0	20.0					17																	39274087		692	1589	2281	SO:0001583	missense	653240					keratin filament		g.chr17:39274087G>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.481C>G	17.37:g.39274087G>C	ENSP00000375232:p.Leu161Val						p.L161V	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	519	-		Breast(137;0.000496)	161			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.481C>G	CCDS45675.1	249	0.11401098901098901	67	0.13617886178861788	40	0.11049723756906077	104	0.18181818181818182	38	0.05013192612137203	.	1.347	-0.592411	0.03799	.	.	ENSG00000212721	ENST00000391413	T	0.00614	6.21	4.35	0.986	0.19784	.	.	.	.	.	T	0.00012	0.0000	L	0.31752	0.955	0.80722	P	0.0	B	0.30068	0.267	B	0.18871	0.023	T	0.19063	-1.0317	8	0.11794	T	0.64	.	5.8913	0.18915	0.1751:0.0:0.6569:0.168	.	161	Q9BYQ6	KR411_HUMAN	V	161	ENSP00000375232:L161V	ENSP00000375232:L161V	L	-	1	2	KRTAP4-11	36527613	0.671000	0.27521	0.912000	0.35992	0.970000	0.65996	0.971000	0.29396	0.348000	0.23949	0.609000	0.83330	CTG		0.657	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			3	16	0	0	0	1	0	3	16				
RCC1	1104	broad.mit.edu	37	1	28858861	28858861	+	Splice_Site	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:28858861G>A	ENST00000373833.6	+	7	725	c.440G>A	c.(439-441)cGg>cAg	p.R147Q	RCC1_ENST00000373832.1_Splice_Site_p.R147Q|RCC1_ENST00000373831.3_Splice_Site_p.R178Q|RCC1_ENST00000398958.2_Splice_Site_p.R147Q|RCC1_ENST00000429051.1_3'UTR			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	147					chromosome segregation (GO:0007059)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of Ran GTPase activity (GO:0032853)|regulation of mitosis (GO:0007088)|spindle assembly (GO:0051225)|viral process (GO:0016032)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosomal DNA binding (GO:0031492)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		GGCTCCTTCCGGGTAAGGCTG	0.547																																						ENST00000373833.6																			0				breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14						c.e7+1		regulator of chromosome condensation 1							56.0	55.0	55.0					1																	28858861		2203	4300	6503	SO:0001630	splice_region_variant	1104				cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity	g.chr1:28858861G>A	X12654	CCDS323.1, CCDS41295.1	1p35.3	2008-08-18	2005-05-09	2005-05-09	ENSG00000180198	ENSG00000180198			1913	protein-coding gene	gene with protein product		179710	"""chromosome condensation 1"""	CHC1		7851910	Standard	NM_001048199		Approved		uc001bqf.2	P18754	OTTHUMG00000003645	ENST00000373833.6:c.441+1G>A	1.37:g.28858861G>A						RCC1_ENST00000429051.1_3'UTR|RCC1_ENST00000373832.1_Splice_Site_p.R147_splice|RCC1_ENST00000373831.3_Splice_Site_p.R178_splice|RCC1_ENST00000398958.2_Splice_Site_p.R147_splice	p.R147_splice			P18754	RCC1_HUMAN		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)	7	725	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)	147					Q16269|Q6NT97	Splice_Site	SNP	ENST00000373833.6	37	c.441_splice	CCDS323.1	.	.	.	.	.	.	.	.	.	.	G	34	5.372827	0.95923	.	.	ENSG00000180198	ENST00000398958;ENST00000427469;ENST00000434290;ENST00000373833;ENST00000419074;ENST00000373832;ENST00000373831;ENST00000411533;ENST00000430407	D;D;T;D;D;D;D;D;D	0.86097	-2.07;-2.07;-1.47;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07	4.65	4.65	0.58169	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.053759	0.64402	D	0.000001	D	0.93298	0.7864	M	0.92833	3.35	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.999	P;P;P	0.61658	0.874;0.892;0.892	D	0.94635	0.7825	10	0.62326	D	0.03	-9.1932	17.0343	0.86470	0.0:0.0:1.0:0.0	.	178;164;147	P18754-2;E9PAT9;P18754	.;.;RCC1_HUMAN	Q	147;147;155;147;147;147;178;164;147	ENSP00000381931:R147Q;ENSP00000402740:R147Q;ENSP00000405258:R155Q;ENSP00000362939:R147Q;ENSP00000402260:R147Q;ENSP00000362938:R147Q;ENSP00000362937:R178Q;ENSP00000413644:R164Q;ENSP00000394650:R147Q	ENSP00000362937:R178Q	R	+	2	0	RCC1	28731448	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.824000	0.99380	2.537000	0.85549	0.650000	0.86243	CGG		0.547	RCC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010323.3	NM_001269	Missense_Mutation	12	37	0	0	0	1	0	12	37				
CACNA1H	8912	broad.mit.edu	37	16	1250445	1250445	+	Silent	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr16:1250445C>T	ENST00000348261.5	+	7	1241	c.993C>T	c.(991-993)ggC>ggT	p.G331G	CACNA1H_ENST00000358590.4_Silent_p.G331G|CACNA1H_ENST00000565831.1_Silent_p.G331G	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	331					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	AGGGGGTGGGCGCTGCACGCA	0.662																																						ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(991-993)ggC>ggT		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)						31.0	36.0	34.0					16																	1250445		2095	4195	6290	SO:0001819	synonymous_variant	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1250445C>T	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.993C>T	16.37:g.1250445C>T						CACNA1H_ENST00000358590.4_Silent_p.G331G|CACNA1H_ENST00000565831.1_Silent_p.G331G	p.G331G	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN			7	1241	+		Hepatocellular(780;0.00369)	331					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Silent	SNP	ENST00000348261.5	37	c.993C>T	CCDS45375.1																																																																																				0.662	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		7	31	0	0	0	1	0	7	31				
GOLGB1	2804	broad.mit.edu	37	3	121411137	121411137	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr3:121411137C>G	ENST00000340645.5	-	14	7184	c.7059G>C	c.(7057-7059)aaG>aaC	p.K2353N	GOLGB1_ENST00000393667.3_Missense_Mutation_p.K2358N	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2353					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CATAACTGAACTTAGAATTTT	0.368																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(7072-7074)aaG>aaC		golgin B1							85.0	84.0	84.0					3																	121411137		2203	4300	6503	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121411137C>G	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.7059G>C	3.37:g.121411137C>G	ENSP00000341848:p.Lys2353Asn					GOLGB1_ENST00000340645.5_Missense_Mutation_p.K2353N	p.K2358N	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	14	7184	-			2353					B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.7074G>C	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.315015	0.23908	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.15718	2.4;2.4	6.03	2.98	0.34508	.	0.000000	0.64402	D	0.000002	T	0.32406	0.0828	L	0.60455	1.87	0.36306	D	0.857329	D;D;D	0.89917	1.0;0.999;0.985	D;D;P	0.85130	0.997;0.973;0.852	T	0.16276	-1.0408	10	0.35671	T	0.21	.	8.4409	0.32814	0.0:0.7162:0.0:0.2838	.	2358;2358;2353	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	N	2353;2358	ENSP00000341848:K2353N;ENSP00000377275:K2358N	ENSP00000341848:K2353N	K	-	3	2	GOLGB1	122893827	0.191000	0.23288	1.000000	0.80357	0.789000	0.44602	0.652000	0.24888	0.303000	0.22785	0.655000	0.94253	AAG		0.368	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		11	34	0	0	0	1	0	11	34				
RBBP5	5929	broad.mit.edu	37	1	205073025	205073025	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:205073025C>T	ENST00000264515.6	-	5	623	c.482G>A	c.(481-483)aGg>aAg	p.R161K	RBBP5_ENST00000484379.1_5'Flank|RBBP5_ENST00000367164.1_Missense_Mutation_p.R161K	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	161					cellular response to DNA damage stimulus (GO:0006974)|histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	methylated histone binding (GO:0035064)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TTCCCCTCGCCTATCAAAAGA	0.433																																						ENST00000264515.6																			0				cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27						c.(481-483)aGg>aAg		retinoblastoma binding protein 5							205.0	197.0	199.0					1																	205073025		2203	4300	6503	SO:0001583	missense	5929				histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding	g.chr1:205073025C>T	BC053856	CCDS30983.1, CCDS53463.1	1q32	2013-01-10	2001-11-28		ENSG00000117222	ENSG00000117222		"""WD repeat domain containing"""	9888	protein-coding gene	gene with protein product	"""SWD1, Set1c WD40 repeat protein, homolog (S. cerevisiae)"""	600697	"""retinoblastoma-binding protein 5"""			7558034	Standard	NM_005057		Approved	RBQ3, SWD1	uc001hbu.2	Q15291	OTTHUMG00000037104	ENST00000264515.6:c.482G>A	1.37:g.205073025C>T	ENSP00000264515:p.Arg161Lys					RBBP5_ENST00000367164.1_Missense_Mutation_p.R161K	p.R161K	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0923)		5	623	-	Breast(84;0.0505)		161					A8K272|Q7Z6D8|Q8NDZ7	Missense_Mutation	SNP	ENST00000264515.6	37	c.482G>A	CCDS30983.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.006547	0.74932	.	.	ENSG00000117222	ENST00000264515;ENST00000367164	T;T	0.22336	1.96;1.96	6.14	6.14	0.99180	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.37293	0.0998	L	0.49640	1.575	0.80722	D	1	D;B;B;B	0.54207	0.965;0.142;0.17;0.247	P;B;B;B	0.58391	0.838;0.053;0.104;0.144	T	0.00792	-1.1564	10	0.14656	T	0.56	.	20.4548	0.99139	0.0:1.0:0.0:0.0	.	34;196;161;161	B4DLF8;B4DMM7;Q15291-2;Q15291	.;.;.;RBBP5_HUMAN	K	161	ENSP00000264515:R161K;ENSP00000356132:R161K	ENSP00000264515:R161K	R	-	2	0	RBBP5	203339648	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.368000	0.79567	2.937000	0.99478	0.650000	0.86243	AGG		0.433	RBBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090077.1	NM_005057		25	93	0	0	0	1	0	25	93				
GUCY2C	2984	broad.mit.edu	37	12	14794056	14794056	+	Silent	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr12:14794056C>T	ENST00000261170.3	-	18	2164	c.2028G>A	c.(2026-2028)cgG>cgA	p.R676R		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	676	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	AGGTTTCTTTCCGCAGGATGA	0.522																																						ENST00000261170.3																			0				breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						c.(2026-2028)cgG>cgA		guanylate cyclase 2C (heat stable enterotoxin receptor)							152.0	109.0	123.0					12																	14794056		2203	4300	6503	SO:0001819	synonymous_variant	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14794056C>T		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.2028G>A	12.37:g.14794056C>T							p.R676R	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN			18	2164	-			676			Protein kinase.		B2RMY6	Silent	SNP	ENST00000261170.3	37	c.2028G>A	CCDS8664.1																																																																																				0.522	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			12	22	0	0	0	1	0	12	22				
GYS1	2997	broad.mit.edu	37	19	49481247	49481247	+	Silent	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr19:49481247G>T	ENST00000323798.3	-	10	1438	c.1242C>A	c.(1240-1242)ccC>ccA	p.P414P	GYS1_ENST00000540532.1_3'UTR|GYS1_ENST00000541188.1_Silent_p.P334P|GYS1_ENST00000544287.1_Silent_p.P47P|GYS1_ENST00000263276.6_Silent_p.P350P	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	414					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		TGTTCATGTCGGGAAGGCTCC	0.542																																						ENST00000323798.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1240-1242)ccC>ccA		glycogen synthase 1 (muscle)							157.0	123.0	134.0					19																	49481247		2203	4300	6503	SO:0001819	synonymous_variant	2997				glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding	g.chr19:49481247G>T		CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.1242C>A	19.37:g.49481247G>T						GYS1_ENST00000541188.1_Silent_p.P334P|GYS1_ENST00000540532.1_3'UTR|GYS1_ENST00000544287.1_Silent_p.P47P|GYS1_ENST00000263276.6_Silent_p.P350P	p.P414P	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)	10	1438	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)	414					Q9BTT9	Silent	SNP	ENST00000323798.3	37	c.1242C>A	CCDS12747.1																																																																																				0.542	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1	NM_002103		21	51	1	0	1.00905e-13	1	1.15264e-13	21	51				
COL11A1	1301	broad.mit.edu	37	1	103483409	103483409	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:103483409G>A	ENST00000370096.3	-	11	1692	c.1380C>T	c.(1378-1380)ggC>ggT	p.G460G	COL11A1_ENST00000512756.1_Silent_p.G344G|COL11A1_ENST00000358392.2_Silent_p.G472G|COL11A1_ENST00000353414.4_Silent_p.G421G	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	460	Collagen-like 1.|Triple-helical region (interrupted).				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GTCCAGTGGGGCCTTGTAGAC	0.388																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(1414-1416)ggC>ggT		collagen, type XI, alpha 1							98.0	101.0	100.0					1																	103483409		2203	4300	6503	SO:0001819	synonymous_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103483409G>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1380C>T	1.37:g.103483409G>A						COL11A1_ENST00000512756.1_Silent_p.G344G|COL11A1_ENST00000353414.4_Silent_p.G421G|COL11A1_ENST00000370096.3_Silent_p.G460G	p.G472G	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	11	1733	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	460			Triple-helical region (interrupted).		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	ENST00000370096.3	37	c.1416C>T	CCDS778.1																																																																																				0.388	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		31	59	0	0	0	1	0	31	59				
SOGA3	387104	broad.mit.edu	37	6	127797497	127797497	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:127797497C>G	ENST00000525778.1	-	6	2419	c.1674G>C	c.(1672-1674)caG>caC	p.Q558H	SOGA3_ENST00000368268.2_Missense_Mutation_p.Q558H|SOGA3_ENST00000556132.1_Missense_Mutation_p.Q558H|SOGA3_ENST00000465909.2_Missense_Mutation_p.Q558H|SOGA3_ENST00000474293.2_5'Flank|SOGA3_ENST00000481848.2_Missense_Mutation_p.Q558H			Q5TF21	SOGA3_HUMAN	SOGA family member 3	558					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											ATCTGTACTTCTGGAGCTCGT	0.493																																						ENST00000556132.1																			0											c.(1672-1674)caG>caC		SOGA family member 3							88.0	87.0	87.0					6																	127797497		1890	4122	6012	SO:0001583	missense	387104					integral to membrane		g.chr6:127797497C>G	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.1674G>C	6.37:g.127797497C>G	ENSP00000434570:p.Gln558His					SOGA3_ENST00000465909.2_Missense_Mutation_p.Q558H|SOGA3_ENST00000525778.1_Missense_Mutation_p.Q558H|SOGA3_ENST00000368268.2_Missense_Mutation_p.Q558H|SOGA3_ENST00000481848.2_Missense_Mutation_p.Q558H	p.Q558H	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN			6	2538	-			558						Missense_Mutation	SNP	ENST00000525778.1	37	c.1674G>C	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.747184	0.49257	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	5.52	3.72	0.42706	.	0.000000	0.85682	D	0.000000	T	0.38401	0.1039	L	0.51422	1.61	0.51482	D	0.999926	D	0.76494	0.999	D	0.77557	0.99	T	0.26224	-1.0109	10	0.51188	T	0.08	-21.5043	8.9282	0.35655	0.0:0.6994:0.0:0.3006	.	558	Q5TF21	CF174_HUMAN	H	558	ENSP00000451768:Q558H;ENSP00000357251:Q558H;ENSP00000434570:Q558H;ENSP00000435559:Q558H	ENSP00000435559:Q558H	Q	-	3	2	C6orf174	127839190	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.492000	0.35594	1.336000	0.45506	0.561000	0.74099	CAG		0.493	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		15	65	0	0	0	1	0	15	65				
RPS6KA1	6195	broad.mit.edu	37	1	26881104	26881104	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:26881104G>C	ENST00000374168.2	+	9	785	c.631G>C	c.(631-633)Gag>Cag	p.E211Q	RPS6KA1_ENST00000374162.2_Missense_Mutation_p.E119Q|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.E220Q|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.E211Q|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.E119Q|MIR1976_ENST00000459548.1_RNA|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.E195Q	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	211	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		CCTGAGCAAAGAGGCCATTGA	0.602																																						ENST00000374168.2																			0				lung(1)	1						c.(631-633)Gag>Cag		ribosomal protein S6 kinase, 90kDa, polypeptide 1							146.0	144.0	145.0					1																	26881104		2203	4300	6503	SO:0001583	missense	6195				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:26881104G>C	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"""ribosomal protein S6 kinase, 90kD, polypeptide 1"""			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.631G>C	1.37:g.26881104G>C	ENSP00000363283:p.Glu211Gln					RPS6KA1_ENST00000531382.1_Missense_Mutation_p.E220Q|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.E195Q|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.E119Q|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.E119Q|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.E211Q	p.E211Q	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)	9	785	+		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	211			Protein kinase 1.		A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Missense_Mutation	SNP	ENST00000374168.2	37	c.631G>C	CCDS284.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.856163	0.91355	.	.	ENSG00000117676	ENST00000374168;ENST00000374166;ENST00000526792;ENST00000374162;ENST00000530003;ENST00000531382	T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	5.65	5.65	0.86999	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.65344	0.2682	N	0.11870	0.19	0.80722	D	1	D;B;D	0.67145	0.996;0.43;0.976	D;B;D	0.66716	0.946;0.122;0.921	T	0.71038	-0.4708	10	0.59425	D	0.04	.	18.6893	0.91577	0.0:0.0:1.0:0.0	.	195;220;211	B7Z2K7;Q15418-2;Q15418	.;.;KS6A1_HUMAN	Q	211;211;119;119;195;220	ENSP00000363283:E211Q;ENSP00000363281:E211Q;ENSP00000431651:E119Q;ENSP00000363277:E119Q;ENSP00000432281:E195Q;ENSP00000435412:E220Q	ENSP00000363277:E119Q	E	+	1	0	RPS6KA1	26753691	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.020000	0.88740	2.655000	0.90218	0.563000	0.77884	GAG		0.602	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	NM_002953		26	162	0	0	0	1	0	26	162				
SLC44A5	204962	broad.mit.edu	37	1	75679473	75679473	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:75679473G>T	ENST00000370855.5	-	22	1992	c.1879C>A	c.(1879-1881)Ctg>Atg	p.L627M	SLC44A5_ENST00000370859.3_Missense_Mutation_p.L627M|SLC44A5_ENST00000535611.1_Missense_Mutation_p.L497M	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	627					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AGGAAGGCCAGAACACCTACA	0.363																																						ENST00000370855.5																			0				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(1879-1881)Ctg>Atg		solute carrier family 44, member 5							83.0	80.0	81.0					1																	75679473		2203	4300	6503	SO:0001583	missense	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75679473G>T	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.1879C>A	1.37:g.75679473G>T	ENSP00000359892:p.Leu627Met					SLC44A5_ENST00000370859.3_Missense_Mutation_p.L627M|SLC44A5_ENST00000535611.1_Missense_Mutation_p.L497M	p.L627M	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN			22	1992	-			627					B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	37	c.1879C>A	CCDS667.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.766432	0.31228	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.26223	1.75;1.75;1.75	5.26	2.9	0.33743	.	0.063210	0.64402	D	0.000004	T	0.34774	0.0909	M	0.75447	2.3	0.58432	D	0.999998	D;D;D;D;D	0.76494	0.998;0.993;0.993;0.999;0.998	D;D;D;D;D	0.74348	0.983;0.959;0.967;0.981;0.965	T	0.14062	-1.0486	10	0.49607	T	0.09	-6.4031	10.3383	0.43862	0.1925:0.0:0.8075:0.0	.	621;666;627;627;666	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	M	627;666;627;497;620	ENSP00000359896:L627M;ENSP00000359892:L627M;ENSP00000443090:L497M	ENSP00000359892:L627M	L	-	1	2	SLC44A5	75452061	1.000000	0.71417	0.531000	0.27976	0.117000	0.20001	2.616000	0.46376	0.455000	0.26910	0.585000	0.79938	CTG		0.363	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697		14	46	1	0	1.5842e-08	1	1.70474e-08	14	46				
MIF4GD	57409	broad.mit.edu	37	17	73265430	73265430	+	Intron	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr17:73265430C>G	ENST00000325102.8	-	2	207				MIF4GD_ENST00000577542.1_Missense_Mutation_p.R68T|MIF4GD_ENST00000579119.1_Intron|RP11-649A18.12_ENST00000582668.1_RNA|MIF4GD_ENST00000245551.5_Missense_Mutation_p.R61T|MIF4GD_ENST00000580571.1_Intron|MIF4GD_ENST00000578305.1_Intron|MIF4GD_ENST00000579297.1_Missense_Mutation_p.R68T|RP11-649A18.12_ENST00000585075.1_RNA	NM_001242501.1	NP_001229430.1	A9UHW6	MI4GD_HUMAN	MIF4G domain containing						regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	10	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			AGACAAACCTCTGTACTGCGT	0.498																																						ENST00000577542.1																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	10						c.(202-204)aGa>aCa		MIF4G domain containing							126.0	113.0	117.0					17																	73265430		2203	4300	6503	SO:0001627	intron_variant	57409				regulation of translation|RNA metabolic process	cytoplasm|nucleus	protein C-terminus binding	g.chr17:73265430C>G	CR605810	CCDS11719.1, CCDS56044.1, CCDS58598.1	17q25.1	2005-12-15		2005-12-15					24030	protein-coding gene	gene with protein product		612072		MIFD			Standard	NM_001242498		Approved	AD023, MGC45027	uc002jnq.3	A9UHW6		ENST00000325102.8:c.82+764G>C	17.37:g.73265430C>G						MIF4GD_ENST00000245551.5_Missense_Mutation_p.R61T|MIF4GD_ENST00000578305.1_Intron|MIF4GD_ENST00000580571.1_Intron|MIF4GD_ENST00000579119.1_Intron|MIF4GD_ENST00000579297.1_Missense_Mutation_p.R68T|MIF4GD_ENST00000325102.8_Intron	p.R68T			A9UHW6	MI4GD_HUMAN	all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)		3	465	-	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		27			MIF4G.		B4DUM7|Q8N4Q5|Q9HBL5	Missense_Mutation	SNP	ENST00000325102.8	37	c.203G>C	CCDS56044.1	.	.	.	.	.	.	.	.	.	.	C	5.482	0.273923	0.10403	.	.	ENSG00000125457	ENST00000245551	.	.	.	2.52	-0.896	0.10557	.	.	.	.	.	T	0.14227	0.0344	N	0.08118	0	0.09310	N	1	B;B	0.24576	0.086;0.106	B;B	0.26202	0.04;0.067	T	0.29458	-1.0011	8	0.16896	T	0.51	.	2.3863	0.04366	0.2364:0.4714:0.0:0.2922	.	61;68	A9UHW6-2;B4DUM7	.;.	T	61	.	ENSP00000245551:R61T	R	-	2	0	MIF4GD	70777025	0.007000	0.16637	0.001000	0.08648	0.025000	0.11179	-0.007000	0.12810	-0.135000	0.11495	0.455000	0.32223	AGA		0.498	MIF4GD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446671.1	NM_020679		11	65	0	0	0	1	0	11	65				
MRPL42	28977	broad.mit.edu	37	12	93873187	93873187	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr12:93873187C>A	ENST00000549982.1	+	4	319	c.158C>A	c.(157-159)tCt>tAt	p.S53Y	MRPL42_ENST00000552217.1_Missense_Mutation_p.S53Y|MRPL42_ENST00000393128.4_Missense_Mutation_p.S53Y|MRPL42_ENST00000547098.1_Missense_Mutation_p.S53Y|MRPL42_ENST00000361630.2_Missense_Mutation_p.S53Y|MRPL42_ENST00000548545.1_Missense_Mutation_p.S53Y	NM_014050.3|NM_172177.3	NP_054769.1|NP_751917.1	Q9Y6G3	RM42_HUMAN	mitochondrial ribosomal protein L42	53					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.S53C(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)	7						GCTCTGACTTCTGATGGCAGG	0.323																																						ENST00000549982.1																			2	Substitution - Missense(2)	p.S53C(2)	endometrium(2)	breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)	7						c.(157-159)tCt>tAt		mitochondrial ribosomal protein L42							87.0	83.0	84.0					12																	93873187		2203	4300	6503	SO:0001583	missense	28977				translation	mitochondrial small ribosomal subunit	structural constituent of ribosome	g.chr12:93873187C>A	AB051626	CCDS9045.1	12q22	2014-02-12			ENSG00000198015	ENSG00000198015		"""Mitochondrial ribosomal proteins / large subunits"", ""Mitochondrial ribosomal proteins / small subunits"""	14493	protein-coding gene	gene with protein product	"""mitochondrial ribosomal protein S32"""	611847				11279123, 11042152	Standard	NM_014050		Approved	MRPS32, MRP-L31, RPML31, PTD007, HSPC204, MRPL31	uc001tcr.3	Q9Y6G3	OTTHUMG00000170157	ENST00000549982.1:c.158C>A	12.37:g.93873187C>A	ENSP00000449884:p.Ser53Tyr					MRPL42_ENST00000548545.1_Missense_Mutation_p.S53Y|MRPL42_ENST00000552217.1_Missense_Mutation_p.S53Y|MRPL42_ENST00000361630.2_Missense_Mutation_p.S53Y|MRPL42_ENST00000547098.1_Missense_Mutation_p.S53Y|MRPL42_ENST00000393128.4_Missense_Mutation_p.S53Y	p.S53Y	NM_014050.3|NM_172177.3	NP_054769.1|NP_751917.1	Q9Y6G3	RM42_HUMAN			4	319	+			53					Q6FID1|Q96Q48|Q9P0S1	Missense_Mutation	SNP	ENST00000549982.1	37	c.158C>A	CCDS9045.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.588471	0.66105	.	.	ENSG00000198015	ENST00000549982;ENST00000361630;ENST00000552217;ENST00000393128	.	.	.	5.32	5.32	0.75619	.	0.080058	0.52532	D	0.000072	T	0.68577	0.3016	M	0.74881	2.28	0.47441	D	0.99942	B;P	0.44241	0.438;0.829	B;B	0.43809	0.219;0.432	T	0.73461	-0.3975	9	0.56958	D	0.05	-13.0081	18.6203	0.91318	0.0:1.0:0.0:0.0	.	53;53	Q9Y6G3;A6NCI0	RM42_HUMAN;.	Y	53	.	ENSP00000355202:S53Y	S	+	2	0	MRPL42	92397318	1.000000	0.71417	0.983000	0.44433	0.903000	0.53119	6.718000	0.74713	2.490000	0.84030	0.585000	0.79938	TCT		0.323	MRPL42-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407715.1	NM_014050		8	14	1	0	1.58986e-06	1	1.66264e-06	8	14				
TPCN2	219931	broad.mit.edu	37	11	68822821	68822821	+	Splice_Site	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr11:68822821G>A	ENST00000294309.3	+	4	530		c.e4+1		TPCN2_ENST00000542467.1_Splice_Site|TPCN2_ENST00000442692.2_Splice_Site	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2						calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTCTGTGAAGGTGAGGCGGGC	0.672																																						ENST00000294309.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32						c.e4+1		two pore segment channel 2							30.0	32.0	31.0					11																	68822821		2197	4291	6488	SO:0001630	splice_region_variant	219931				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity	g.chr11:68822821G>A	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"""Voltage-gated ion channels / Two-pore channels"""	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.429+1G>A	11.37:g.68822821G>A						TPCN2_ENST00000542467.1_Splice_Site|TPCN2_ENST00000442692.2_Splice_Site		NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		4	530	+								Q9NT82	Splice_Site	SNP	ENST00000294309.3	37		CCDS8189.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.453816	0.43531	.	.	ENSG00000162341	ENST00000356782;ENST00000294309;ENST00000542467	.	.	.	4.96	4.02	0.46733	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3537	0.66722	0.0:0.0:0.8503:0.1497	.	.	.	.	.	-1	.	.	.	+	.	.	TPCN2	68579397	1.000000	0.71417	1.000000	0.80357	0.430000	0.31655	8.156000	0.89645	1.182000	0.42928	0.561000	0.74099	.		0.672	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075	Intron	22	24	0	0	0	1	0	22	24				
EXOC1	55763	broad.mit.edu	37	4	56762881	56762881	+	Splice_Site	SNP	A	A	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr4:56762881A>C	ENST00000381295.2	+	16	2301		c.e16-1		EXOC1_ENST00000349598.6_Splice_Site|EXOC1_ENST00000346134.7_Splice_Site	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1						cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					GCCTAACTTTAGAGTAACCAA	0.303																																						ENST00000381295.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35						c.e16-1		exocyst complex component 1							56.0	56.0	56.0					4																	56762881		2203	4300	6503	SO:0001630	splice_region_variant	55763				exocytosis|protein transport	exocyst	protein binding	g.chr4:56762881A>C	AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"""SEC3-like 1 (S. cerevisiae)"""	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.1954-1A>C	4.37:g.56762881A>C						EXOC1_ENST00000349598.6_Splice_Site|EXOC1_ENST00000346134.7_Splice_Site		NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN			16	2301	+	Glioma(25;0.08)|all_neural(26;0.101)							Q504V4|Q8WUE7|Q96T15|Q9NZE4	Splice_Site	SNP	ENST00000381295.2	37		CCDS3502.1	.	.	.	.	.	.	.	.	.	.	A	17.73	3.461871	0.63513	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6093	0.84858	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EXOC1	56457638	0.994000	0.37717	0.989000	0.46669	0.669000	0.39330	2.954000	0.49113	2.324000	0.78689	0.533000	0.62120	.		0.303	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261	Intron	9	19	0	0	0	1	0	9	19				
OPRM1	4988	broad.mit.edu	37	6	154360714	154360714	+	Missense_Mutation	SNP	A	A	G	rs199645285		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:154360714A>G	ENST00000330432.7	+	1	272	c.35A>G	c.(34-36)aAt>aGt	p.N12S	OPRM1_ENST00000428397.2_Missense_Mutation_p.N12S|OPRM1_ENST00000229768.5_Missense_Mutation_p.N12S|OPRM1_ENST00000360422.4_Missense_Mutation_p.N12S|OPRM1_ENST00000524163.1_Missense_Mutation_p.N12S|OPRM1_ENST00000518759.1_Intron|OPRM1_ENST00000337049.4_Missense_Mutation_p.N12S|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000434900.2_Missense_Mutation_p.N105S|OPRM1_ENST00000419506.2_Missense_Mutation_p.N12S|OPRM1_ENST00000523520.1_3'UTR|OPRM1_ENST00000435918.2_Missense_Mutation_p.N12S|OPRM1_ENST00000414028.2_Missense_Mutation_p.N12S|OPRM1_ENST00000452687.2_Missense_Mutation_p.N12S	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	12					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	AACGCCAGCAATTGCACTGAT	0.632																																						ENST00000414028.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(34-36)aAt>aGt		opioid receptor, mu 1	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)						34.0	41.0	39.0					6																	154360714		2051	4195	6246	SO:0001583	missense	4988				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	g.chr6:154360714A>G	L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"""GPCR / Class A : Opioid receptors"""	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.35A>G	6.37:g.154360714A>G	ENSP00000328264:p.Asn12Ser					OPRM1_ENST00000434900.2_Missense_Mutation_p.N105S|OPRM1_ENST00000523520.1_3'UTR|OPRM1_ENST00000330432.7_Missense_Mutation_p.N12S|OPRM1_ENST00000229768.5_Missense_Mutation_p.N12S|OPRM1_ENST00000419506.2_Missense_Mutation_p.N12S|OPRM1_ENST00000452687.2_Missense_Mutation_p.N12S|OPRM1_ENST00000337049.4_Missense_Mutation_p.N12S|OPRM1_ENST00000435918.2_Missense_Mutation_p.N12S|OPRM1_ENST00000428397.2_Missense_Mutation_p.N12S|OPRM1_ENST00000518759.1_Intron|OPRM1_ENST00000360422.4_Missense_Mutation_p.N12S|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000524163.1_Missense_Mutation_p.N12S	p.N12S	NM_001145284.2	NP_001138756.1	P35372	OPRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	1	85	+		Ovarian(120;0.196)	12					B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Missense_Mutation	SNP	ENST00000330432.7	37	c.35A>G	CCDS55070.1	.	.	.	.	.	.	.	.	.	.	A	8.887	0.953160	0.18431	.	.	ENSG00000112038	ENST00000520282;ENST00000434900;ENST00000330432;ENST00000360422;ENST00000428397;ENST00000452687;ENST00000229768;ENST00000419506;ENST00000524163;ENST00000414028;ENST00000435918;ENST00000337049	T;T;T;T;T;T;T;T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41;2.41;2.41;2.41;2.41;2.41;2.41;2.41	5.85	4.72	0.59763	.	2.167110	0.01869	N	0.037066	T	0.03695	0.0105	N	0.08118	0	0.21105	N	0.999785	B;B;B;B;B;B;B;B;B;B;B	0.17852	0.024;0.001;0.001;0.002;0.021;0.024;0.001;0.0;0.024;0.001;0.0	B;B;B;B;B;B;B;B;B;B;B	0.20577	0.018;0.001;0.004;0.002;0.008;0.03;0.002;0.0;0.018;0.003;0.001	T	0.33624	-0.9861	10	0.54805	T	0.06	.	5.2376	0.15454	0.7038:0.1832:0.113:0.0	.	12;12;12;12;105;12;12;12;12;12;12	P35372-4;P35372-8;P35372-11;P35372-9;P35372-10;P35372-6;P35372-5;P35372;P35372-7;P35372-3;P35372-2	.;.;.;.;.;.;.;OPRM_HUMAN;.;.;.	S	60;105;12;12;12;12;12;12;12;12;12;12	ENSP00000430247:N60S;ENSP00000394624:N105S;ENSP00000328264:N12S;ENSP00000353598:N12S;ENSP00000411903:N12S;ENSP00000410497:N12S;ENSP00000229768:N12S;ENSP00000403549:N12S;ENSP00000430097:N12S;ENSP00000399359:N12S;ENSP00000413752:N12S;ENSP00000338381:N12S	ENSP00000229768:N12S	N	+	2	0	OPRM1	154402407	0.011000	0.17503	0.993000	0.49108	0.133000	0.20885	1.445000	0.35079	2.238000	0.73509	0.528000	0.53228	AAT		0.632	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042786.2	NM_000914		6	26	0	0	0	1	0	6	26				
UMPS	7372	broad.mit.edu	37	3	124454085	124454085	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr3:124454085A>G	ENST00000232607.2	+	2	408	c.302A>G	c.(301-303)aAg>aGg	p.K101R	UMPS_ENST00000413078.2_Intron|UMPS_ENST00000538242.1_Intron|UMPS_ENST00000536109.1_Missense_Mutation_p.K9R|MIR544B_ENST00000582372.1_RNA	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	101	OPRTase.				'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|cellular response to drug (GO:0035690)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|small molecule metabolic process (GO:0044281)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	orotate phosphoribosyltransferase activity (GO:0004588)|orotidine-5'-phosphate decarboxylase activity (GO:0004590)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)	Fluorouracil(DB00544)	AAAGAAACAAAGGATTATGGT	0.338																																						ENST00000232607.2																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16						c.(301-303)aAg>aGg		uridine monophosphate synthetase							62.0	55.0	58.0					3																	124454085		2203	4300	6503	SO:0001583	missense	7372				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity	g.chr3:124454085A>G		CCDS3029.1	3q13	2008-02-04	2008-02-04		ENSG00000114491	ENSG00000114491	2.4.2.10, 4.1.1.23		12563	protein-coding gene	gene with protein product	"""orotate phosphoribosyl transferase and orotidine-5'-decarboxylase"""	613891				2767686	Standard	NM_000373		Approved		uc003ehl.4	P11172	OTTHUMG00000159431	ENST00000232607.2:c.302A>G	3.37:g.124454085A>G	ENSP00000232607:p.Lys101Arg					UMPS_ENST00000536109.1_Missense_Mutation_p.K9R|UMPS_ENST00000413078.2_Intron|UMPS_ENST00000538242.1_Intron	p.K101R	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN		GBM - Glioblastoma multiforme(114;0.146)	2	408	+			101			OPRTase.		B5LY68|B5LY72|O00758|O00759|O00760|Q16862|Q9H3Q2|Q9UG49	Missense_Mutation	SNP	ENST00000232607.2	37	c.302A>G	CCDS3029.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.631068	0.87660	.	.	ENSG00000114491	ENST00000232607;ENST00000536109	T;T	0.75704	-0.96;-0.96	5.22	5.22	0.72569	Phosphoribosyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.89784	0.6815	H	0.94306	3.52	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92624	0.6110	10	0.87932	D	0	-13.6589	15.253	0.73561	1.0:0.0:0.0:0.0	.	101	P11172	UMPS_HUMAN	R	101;9	ENSP00000232607:K101R;ENSP00000443577:K9R	ENSP00000232607:K101R	K	+	2	0	UMPS	125936775	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	8.174000	0.89682	2.178000	0.69098	0.533000	0.62120	AAG		0.338	UMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355271.1	NM_000373		4	12	0	0	0	1	0	4	12				
CNTLN	54875	broad.mit.edu	37	9	17366690	17366690	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr9:17366690T>A	ENST00000380647.3	+	13	2046	c.1962T>A	c.(1960-1962)aaT>aaA	p.N654K	CNTLN_ENST00000262360.5_Missense_Mutation_p.N654K|CNTLN_ENST00000425824.1_Missense_Mutation_p.N654K			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	654					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AAGAATTGAATAGATGTGTGG	0.269																																						ENST00000380647.3																			0				breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(1960-1962)aaT>aaA		centlein, centrosomal protein							79.0	80.0	79.0					9																	17366690		1796	4032	5828	SO:0001583	missense	54875					centriole|membrane	two-component sensor activity	g.chr9:17366690T>A	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.1962T>A	9.37:g.17366690T>A	ENSP00000370021:p.Asn654Lys					CNTLN_ENST00000425824.1_Missense_Mutation_p.N654K|CNTLN_ENST00000262360.5_Missense_Mutation_p.N654K	p.N654K			Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	13	2046	+			654					A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	ENST00000380647.3	37	c.1962T>A	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	T	16.09	3.024088	0.54683	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.17691	2.26;2.26;2.52	5.25	-1.66	0.08265	.	.	.	.	.	T	0.28134	0.0694	M	0.69823	2.125	0.21915	N	0.999476	D;P;P	0.76494	0.999;0.872;0.872	D;P;P	0.68353	0.957;0.578;0.578	T	0.32508	-0.9904	9	0.09084	T	0.74	.	5.51	0.16876	0.1187:0.2867:0.0:0.5946	.	654;654;654	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	K	654	ENSP00000370021:N654K;ENSP00000392798:N654K;ENSP00000262360:N654K	ENSP00000262360:N654K	N	+	3	2	CNTLN	17356690	0.365000	0.25006	0.652000	0.29579	0.948000	0.59901	0.159000	0.16442	-0.211000	0.10124	0.533000	0.62120	AAT		0.269	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		5	22	0	0	0	1	0	5	22				
WBSCR28	135886	broad.mit.edu	37	7	73275545	73275545	+	Silent	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr7:73275545C>G	ENST00000320531.2	+	1	57	c.21C>G	c.(19-21)gtC>gtG	p.V7V		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	7						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				TTCCTCCAGTCAGATCCAGCC	0.617																																						ENST00000320531.2																			0				breast(2)|kidney(2)|lung(6)|skin(1)	11						c.(19-21)gtC>gtG		Williams-Beuren syndrome chromosome region 28							54.0	53.0	53.0					7																	73275545		1917	4131	6048	SO:0001819	synonymous_variant	135886					integral to membrane		g.chr7:73275545C>G	BC030643	CCDS43597.1	7q11.23	2006-07-04			ENSG00000175877	ENSG00000175877			23018	protein-coding gene	gene with protein product		612547				8812460	Standard	NM_182504		Approved	MGC26719	uc003tzk.2	Q6UE05	OTTHUMG00000157243	ENST00000320531.2:c.21C>G	7.37:g.73275545C>G							p.V7V	NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN			1	57	+		Lung NSC(55;0.159)	7					Q6UE04|Q8NHP4	Silent	SNP	ENST00000320531.2	37	c.21C>G	CCDS43597.1																																																																																				0.617	WBSCR28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348130.1	NM_182504		16	49	0	0	0	1	0	16	49				
MTMR14	64419	broad.mit.edu	37	3	9712819	9712819	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr3:9712819G>A	ENST00000296003.4	+	6	764	c.642G>A	c.(640-642)ctG>ctA	p.L214L	MTMR14_ENST00000351233.5_Silent_p.L214L|MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000353332.5_Silent_p.L214L	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	214					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					TCTGTGACCTGATGGTGGAGA	0.458																																						ENST00000296003.4																			0				breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21						c.(640-642)ctG>ctA		myotubularin related protein 14							114.0	111.0	112.0					3																	9712819		2023	4189	6212	SO:0001819	synonymous_variant	64419					perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chr3:9712819G>A	BC001674	CCDS43043.1, CCDS43044.1, CCDS43045.1	3p26	2011-06-09	2006-12-18	2006-12-18	ENSG00000163719	ENSG00000163719		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	26190	protein-coding gene	gene with protein product	"""egg-derived tyrosine phosphatase homolog (Drosophila)"""	611089	"""chromosome 3 open reading frame 29"""	C3orf29		15186772	Standard	NM_022485		Approved	FLJ22405, FLJ90311, hJumpy, hEDTP	uc003brz.3	Q8NCE2	OTTHUMG00000155111	ENST00000296003.4:c.642G>A	3.37:g.9712819G>A						MTMR14_ENST00000351233.5_Silent_p.L214L|MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000353332.5_Silent_p.L214L	p.L214L	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN			6	764	+	Medulloblastoma(99;0.227)		214					Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	Silent	SNP	ENST00000296003.4	37	c.642G>A	CCDS43043.1																																																																																				0.458	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338435.1	NM_022485		12	32	0	0	0	1	0	12	32				
AHR	196	broad.mit.edu	37	7	17379208	17379208	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr7:17379208G>C	ENST00000242057.4	+	10	2402	c.1759G>C	c.(1759-1761)Gat>Cat	p.D587H		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	587					apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	GTATGTCCAAGATTCTTTAAG	0.393																																						ENST00000242057.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33						c.(1759-1761)Gat>Cat		aryl hydrocarbon receptor							104.0	99.0	101.0					7																	17379208		2203	4300	6503	SO:0001583	missense	196				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr7:17379208G>C	L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"""Basic helix-loop-helix proteins"""	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.1759G>C	7.37:g.17379208G>C	ENSP00000242057:p.Asp587His						p.D587H	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN			10	2402	+	Lung NSC(10;0.0392)|all_lung(11;0.0754)		587					A4D130|Q13728|Q13803|Q13804	Missense_Mutation	SNP	ENST00000242057.4	37	c.1759G>C	CCDS5366.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.800847	0.31869	.	.	ENSG00000106546	ENST00000242057	T	0.25749	1.78	6.16	5.11	0.69529	.	0.419196	0.27659	N	0.018384	T	0.35307	0.0927	M	0.78637	2.42	0.39217	D	0.963434	P	0.35124	0.485	B	0.35859	0.212	T	0.39840	-0.9594	10	0.87932	D	0	.	16.4524	0.83996	0.072:0.0:0.928:0.0	.	587	P35869	AHR_HUMAN	H	587	ENSP00000242057:D587H	ENSP00000242057:D587H	D	+	1	0	AHR	17345733	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	4.308000	0.59129	2.937000	0.99478	0.650000	0.86243	GAT		0.393	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2	NM_001621		18	71	0	0	0	1	0	18	71				
PCDHGB3	56102	broad.mit.edu	37	5	140751494	140751494	+	Silent	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr5:140751494C>T	ENST00000576222.1	+	1	1664	c.1533C>T	c.(1531-1533)agC>agT	p.S511S	PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA4_ENST00000571252.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	511	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCGGAGCGGGGTGGTGT	0.667																																						ENST00000576222.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(1531-1533)agC>agT									48.0	52.0	50.0					5																	140751494		2080	4229	6309	SO:0001819	synonymous_variant	56102							g.chr5:140751494C>T	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1533C>T	5.37:g.140751494C>T						PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron	p.S511S	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1664	+								A7E229|Q9Y5C7	Silent	SNP	ENST00000576222.1	37	c.1533C>T	CCDS58980.1																																																																																				0.667	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		13	72	0	0	0	1	0	13	72				
GDF10	2662	broad.mit.edu	37	10	48428702	48428702	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr10:48428702A>G	ENST00000224605.2	-	2	1449	c.1184T>C	c.(1183-1185)aTc>aCc	p.I395T		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	395					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						TTTCGGTGAGATTATCCATTC	0.532																																						ENST00000224605.2																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						c.(1183-1185)aTc>aCc		growth differentiation factor 10							90.0	86.0	87.0					10																	48428702		2203	4300	6503	SO:0001583	missense	2662				growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr10:48428702A>G	L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"""Endogenous ligands"""	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.1184T>C	10.37:g.48428702A>G	ENSP00000224605:p.Ile395Thr						p.I395T	NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN			2	1449	-			395					Q5VSQ8|Q9UCX6	Missense_Mutation	SNP	ENST00000224605.2	37	c.1184T>C	CCDS7220.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.445205	0.83993	.	.	ENSG00000107623	ENST00000374247;ENST00000224605	T	0.66638	-0.22	5.43	5.43	0.79202	Transforming growth factor beta, conserved site (1);Transforming growth factor-beta, C-terminal (3);	0.220255	0.47093	D	0.000243	T	0.80999	0.4732	M	0.90542	3.125	0.58432	D	0.999998	P;P	0.47677	0.874;0.899	P;P	0.52856	0.458;0.711	D	0.85374	0.1115	10	0.87932	D	0	.	14.9572	0.71124	1.0:0.0:0.0:0.0	.	205;395	Q8N6T2;P55107	.;BMP3B_HUMAN	T	205;395	ENSP00000224605:I395T	ENSP00000224605:I395T	I	-	2	0	GDF10	48048708	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	9.181000	0.94874	2.198000	0.70561	0.533000	0.62120	ATC		0.532	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047884.1	NM_004962		11	46	0	0	0	1	0	11	46				
CD81-AS1	101927682	broad.mit.edu	37	11	2356559	2356559	+	RNA	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr11:2356559C>G	ENST00000413483.1	-	0	407				RPL26P30_ENST00000602923.1_RNA																							TGCATTTTCTCAATAAGTTCT	0.393																																						ENST00000413483.1																			0																				38.0	36.0	37.0					11																	2356559		2192	4278	6470			101927682							g.chr11:2356559C>G																													11.37:g.2356559C>G						RPL26P30_ENST00000602923.1_RNA								0	407	-									RNA	SNP	ENST00000413483.1	37																																																																																						0.393	AC129929.5-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000143277.1			6	12	0	0	0	1	0	6	12				
MUC16	94025	broad.mit.edu	37	19	8959696	8959696	+	Missense_Mutation	SNP	C	C	T	rs61748893	byFrequency	TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr19:8959696C>T	ENST00000397910.4	-	84	43639	c.43436G>A	c.(43435-43437)cGc>cAc	p.R14479H	MUC16_ENST00000380951.5_Missense_Mutation_p.R1120H	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	22124	SEA 16. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	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						CTTCCGCCGGCGGGTGGTCAC	0.577													C|||	2	0.000399361	0.0015	0.0	5008	,	,		16795	0.0		0.0	False		,,,				2504	0.0					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.(43435-43437)cGc>cAc		mucin 16, cell surface associated		T	HIS/ARG	2,3970		0,2,1984	71.0	73.0	73.0		43436	-1.1	0.0	19	dbSNP_129	73	0,8362		0,0,4181	no	missense	MUC16	NM_024690.2	29	0,2,6165	TT,TC,CC		0.0,0.0504,0.0162	benign	14479/14508	8959696	2,12332	1986	4181	6167	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8959696C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.43436G>A	19.37:g.8959696C>T	ENSP00000381008:p.Arg14479His					MUC16_ENST00000380951.5_Missense_Mutation_p.R1120H	p.R14479H	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			84	43639	-			22124	Missing (in Ref. 3; AAK74120).		SEA 16.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.43436G>A	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	12.06|12.06	1.825262|1.825262	0.32237|0.32237	5.04E-4|5.04E-4	0.0|0.0	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000380951	.|T	.|0.01918	.|4.56	3.47|3.47	-1.14|-1.14	0.09741|0.09741	.|.	.|.	.|.	.|.	.|.	T|T	0.00815|0.00815	0.0027|0.0027	N|N	0.00926|0.00926	-1.1|-1.1	.|.	.|.	.|.	.|B;B	.|0.13145	.|0.001;0.007	.|B;B	.|0.04013	.|0.0;0.001	T|T	0.45789|0.45789	-0.9237|-0.9237	4|8	.|0.33141	.|T	.|0.24	.|.	3.7005|3.7005	0.08380|0.08380	0.0:0.4839:0.1864:0.3297|0.0:0.4839:0.1864:0.3297	.|.	.|22124;14479	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	T|H	1302|14479;1120	.|ENSP00000381008:R14479H	.|ENSP00000370338:R1120H	A|R	-|-	1|2	0|0	MUC16|MUC16	8820696|8820696	0.002000|0.002000	0.14202|0.14202	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.285000|0.285000	0.18883|0.18883	-0.085000|-0.085000	0.12573|0.12573	-1.382000|-1.382000	0.01172|0.01172	GCC|CGC		0.577	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		6	10	0	0	0	1	0	6	10				
ITGAD	3681	broad.mit.edu	37	16	31422660	31422660	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr16:31422660G>A	ENST00000389202.2	+	14	1578	c.1529G>A	c.(1528-1530)cGt>cAt	p.R510H		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	510					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCTGTTCTCCGTGGTGAGCAG	0.637																																						ENST00000389202.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(1528-1530)cGt>cAt		integrin, alpha D							117.0	115.0	116.0					16																	31422660		2197	4300	6497	SO:0001583	missense	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31422660G>A	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.1529G>A	16.37:g.31422660G>A	ENSP00000373854:p.Arg510His						p.R510H	NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN			14	1578	+			510					Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	c.1529G>A	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.487722	0.01018	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.12039	2.72	4.34	0.29	0.15728	.	.	.	.	.	T	0.07999	0.0200	L	0.35414	1.06	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.09377	0.004;0.004	T	0.45205	-0.9277	9	0.07175	T	0.84	.	6.3289	0.21259	0.4977:0.0:0.5023:0.0	.	526;510	Q59H14;Q13349	.;ITAD_HUMAN	H	526;510	ENSP00000373854:R510H	ENSP00000373854:R510H	R	+	2	0	ITGAD	31330161	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.384000	0.07389	-0.259000	0.09432	-0.501000	0.04562	CGT		0.637	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		45	144	0	0	0	1	0	45	144				
CHRDL1	91851	broad.mit.edu	37	X	109919583	109919583	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chrX:109919583C>T	ENST00000372045.1	-	12	1360	c.1229G>A	c.(1228-1230)tGg>tAg	p.W410*	CHRDL1_ENST00000434224.1_Nonsense_Mutation_p.W337*|CHRDL1_ENST00000444321.2_Nonsense_Mutation_p.W417*|CHRDL1_ENST00000372042.1_Nonsense_Mutation_p.W418*|CHRDL1_ENST00000218054.4_Nonsense_Mutation_p.W416*|CHRDL1_ENST00000482160.1_Nonsense_Mutation_p.W338*|CHRDL1_ENST00000394797.4_Nonsense_Mutation_p.W416*			Q9BU40	CRDL1_HUMAN	chordin-like 1	410					BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|compound eye development (GO:0048749)|eye development (GO:0001654)|negative regulation of BMP signaling pathway (GO:0030514)|nervous system development (GO:0007399)|ossification (GO:0001503)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						GAAGATCTTCCACTGGCCTAA	0.458																																						ENST00000218054.4																			0				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						c.(1246-1248)tGg>tAg		chordin-like 1							97.0	78.0	84.0					X																	109919583		2203	4300	6503	SO:0001587	stop_gained	91851				BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region		g.chrX:109919583C>T	AL049176	CCDS14553.1, CCDS48148.1, CCDS48149.1, CCDS48150.1, CCDS48148.2	Xq23	2014-01-31			ENSG00000101938	ENSG00000101938			29861	protein-coding gene	gene with protein product		300350	"""megalocornea 1 (X-linked)"""	MGC1		11441185, 11118896, 22284829	Standard	NM_001143981		Approved	NRLN1, CHL	uc004eow.3	Q9BU40	OTTHUMG00000022199	ENST00000372045.1:c.1229G>A	X.37:g.109919583C>T	ENSP00000361115:p.Trp410*					CHRDL1_ENST00000372045.1_Nonsense_Mutation_p.W410*|CHRDL1_ENST00000372042.1_Nonsense_Mutation_p.W418*|CHRDL1_ENST00000394797.4_Nonsense_Mutation_p.W416*|CHRDL1_ENST00000444321.2_Nonsense_Mutation_p.W417*|CHRDL1_ENST00000434224.1_Nonsense_Mutation_p.W337*|CHRDL1_ENST00000482160.1_Nonsense_Mutation_p.W338*	p.W416*	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN			12	1443	-			410					B1AKD0|B4DMP3|D3DUY6|E9PGS5|Q539E4|Q9Y3H7	Nonsense_Mutation	SNP	ENST00000372045.1	37	c.1247G>A		.	.	.	.	.	.	.	.	.	.	C	34	5.400860	0.96030	.	.	ENSG00000101938	ENST00000372045;ENST00000434224;ENST00000218054;ENST00000394797;ENST00000372042;ENST00000482160;ENST00000444321	.	.	.	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.8377	17.7162	0.88337	0.0:1.0:0.0:0.0	.	.	.	.	X	410;337;416;416;418;338;417	.	.	W	-	2	0	CHRDL1	109806239	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.404000	0.66344	2.311000	0.77944	0.600000	0.82982	TGG		0.458	CHRDL1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057912.1	NM_145234		8	45	0	0	0	1	0	8	45				
SBK1	388228	broad.mit.edu	37	16	28328856	28328856	+	Silent	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr16:28328856C>T	ENST00000341901.4	+	2	933	c.144C>T	c.(142-144)gaC>gaT	p.D48D		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	48						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(3)|ovary(1)	5						CCGCCAGCGACGTCACCAAGC	0.637											OREG0023701	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000341901.4																			0				kidney(1)|lung(3)|ovary(1)	5						c.(142-144)gaC>gaT		SH3 domain binding kinase 1							75.0	67.0	69.0					16																	28328856		2197	4300	6497	SO:0001819	synonymous_variant	388228					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr16:28328856C>T		CCDS32416.1	16p11.2	2013-09-27	2013-09-27			ENSG00000188322			17699	protein-coding gene	gene with protein product			"""SH3-binding domain kinase 1"""				Standard	XM_005255315		Approved	Sbk	uc002dpd.3	Q52WX2		ENST00000341901.4:c.144C>T	16.37:g.28328856C>T			OREG0023701	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	801		p.D48D	NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN			2	933	+			48						Silent	SNP	ENST00000341901.4	37	c.144C>T	CCDS32416.1																																																																																				0.637	SBK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387677.1	XM_370948		19	49	0	0	0	1	0	19	49				
KMT2D	8085	broad.mit.edu	37	12	49416416	49416416	+	Missense_Mutation	SNP	C	C	T	rs398123734		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr12:49416416C>T	ENST00000301067.7	-	51	16294	c.16295G>A	c.(16294-16296)cGg>cAg	p.R5432Q		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5432	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R5162Q(1)									CACCTCGTTCCGAATGATGGT	0.552																																						ENST00000301067.7																			1	Substitution - Missense(1)	p.R5162Q(1)	central_nervous_system(1)								c.(16294-16296)cGg>cAg		lysine (K)-specific methyltransferase 2D							187.0	192.0	190.0					12																	49416416		2021	4163	6184	SO:0001583	missense	8085							g.chr12:49416416C>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.16295G>A	12.37:g.49416416C>T	ENSP00000301067:p.Arg5432Gln						p.R5432Q	NM_003482.3	NP_003473.3					51	16294	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.16295G>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.162941	0.57476	.	.	ENSG00000167548	ENST00000301067;ENST00000526209	D;D	0.81579	-1.51;-1.51	5.09	5.09	0.68999	SET domain (3);	0.000000	0.37304	N	0.002155	D	0.91050	0.7184	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92501	0.6008	10	0.87932	D	0	.	17.6392	0.88130	0.0:1.0:0.0:0.0	.	5432	O14686	MLL2_HUMAN	Q	5432;113	ENSP00000301067:R5432Q;ENSP00000435714:R113Q	ENSP00000301067:R5432Q	R	-	2	0	MLL2	47702683	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.734000	0.84928	2.546000	0.85860	0.591000	0.81541	CGG		0.552	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			52	151	0	0	0	1	0	52	151				
MYZAP	100820829	broad.mit.edu	37	15	57925925	57925925	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr15:57925925G>C	ENST00000267853.5	+	8	1013	c.919G>C	c.(919-921)Gag>Cag	p.E307Q	GCOM1_ENST00000587652.1_Missense_Mutation_p.E307Q|GCOM1_ENST00000380568.3_Missense_Mutation_p.E307Q|GCOM1_ENST00000380561.2_Missense_Mutation_p.E276Q|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380560.2_Missense_Mutation_p.E238Q|GCOM1_ENST00000572390.1_Missense_Mutation_p.E307Q|GCOM1_ENST00000574161.1_Missense_Mutation_p.E307Q|GCOM1_ENST00000396180.1_Missense_Mutation_p.E276Q|MYZAP_ENST00000380565.4_Missense_Mutation_p.E307Q|GCOM1_ENST00000380569.2_Missense_Mutation_p.E307Q			P0CAP1	MYZAP_HUMAN	myocardial zonula adherens protein	307					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|I band (GO:0031674)											CAGGCTGATTGAGCGCATGGA	0.502																																						ENST00000574161.1																			0				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						c.(919-921)Gag>Cag									119.0	110.0	113.0					15																	57925925		2192	4292	6484	SO:0001583	missense	145781				intracellular signal transduction	extrinsic to internal side of plasma membrane|I band		g.chr15:57925925G>C	FJ970029		15q21.3	2012-10-05			ENSG00000263155	ENSG00000263155			43444	protein-coding gene	gene with protein product	"""myocardium-enriched zonula adherens protein"""	614071				20093627, 21992629, 22160502	Standard	NM_001018100		Approved	MYOZAP, Gup, Gup1, GCOM1		P0CAP1	OTTHUMG00000132453	ENST00000267853.5:c.919G>C	15.37:g.57925925G>C	ENSP00000267853:p.Glu307Gln					POLR2M_ENST00000380563.2_5'UTR|MYZAP_ENST00000380565.4_Missense_Mutation_p.E307Q|GCOM1_ENST00000380569.2_Missense_Mutation_p.E307Q|GCOM1_ENST00000380560.2_Missense_Mutation_p.E238Q|GCOM1_ENST00000380561.2_Missense_Mutation_p.E276Q|GCOM1_ENST00000572390.1_Missense_Mutation_p.E307Q|GCOM1_ENST00000380568.3_Missense_Mutation_p.E307Q|GCOM1_ENST00000396180.1_Missense_Mutation_p.E276Q|MYZAP_ENST00000267853.5_Missense_Mutation_p.E307Q|GCOM1_ENST00000587652.1_Missense_Mutation_p.E307Q	p.E307Q	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN			8	1038	+			307					D2E9U7|Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5	Missense_Mutation	SNP	ENST00000267853.5	37	c.919G>C	CCDS10162.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.291615	0.23564	.	.	ENSG00000137878	ENST00000380569;ENST00000380561;ENST00000396180;ENST00000380560;ENST00000267853;ENST00000380565;ENST00000380568;ENST00000461709	T;T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47	5.68	4.71	0.59529	.	0.432689	0.27147	N	0.020704	T	0.15652	0.0377	N	0.12182	0.205	0.80722	D	1	B;B;B;B	0.31949	0.348;0.006;0.348;0.118	B;B;B;B	0.35607	0.206;0.026;0.206;0.068	T	0.08126	-1.0737	10	0.07644	T	0.81	-23.3982	9.0096	0.36133	0.0:0.2606:0.5925:0.1469	.	307;307;307;307	P0CAP1-2;P0CAP1-11;P0CAP1-4;P0CAP1	.;.;.;GCOM1_HUMAN	Q	307;276;276;238;307;307;307;22	ENSP00000369943:E307Q;ENSP00000369935:E276Q;ENSP00000379483:E276Q;ENSP00000369933:E238Q;ENSP00000267853:E307Q;ENSP00000369939:E307Q;ENSP00000369942:E307Q;ENSP00000431396:E22Q	ENSP00000267853:E307Q	E	+	1	0	GCOM1	55713217	0.947000	0.32204	1.000000	0.80357	0.937000	0.57800	1.339000	0.33885	2.676000	0.91093	0.563000	0.77884	GAG		0.502	MYZAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255716.2	NM_001018100		9	60	0	0	0	1	0	9	60				
FKBP5	2289	broad.mit.edu	37	6	35544861	35544861	+	Silent	SNP	G	G	C	rs180682572		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:35544861G>C	ENST00000539068.1	-	10	1378	c.1176C>G	c.(1174-1176)tcC>tcG	p.S392S	FKBP5_ENST00000536438.1_Silent_p.S392S|FKBP5_ENST00000540787.1_Silent_p.S213S|FKBP5_ENST00000357266.4_Silent_p.S392S	NM_001145776.1	NP_001139248.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	392					chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	FK506 binding (GO:0005528)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						TCTGGCACATGGAGATCTGCA	0.517																																						ENST00000536438.1																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						c.(1174-1176)tcC>tcG		FK506 binding protein 5							228.0	169.0	189.0					6																	35544861		2203	4300	6503	SO:0001819	synonymous_variant	2289				protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity	g.chr6:35544861G>C	U42031	CCDS4808.1, CCDS54996.1	6p21.31	2013-01-10	2001-11-28		ENSG00000096060	ENSG00000096060		"""Tetratricopeptide (TTC) repeat domain containing"""	3721	protein-coding gene	gene with protein product		602623	"""FK506-binding protein 5"""			9001212	Standard	NM_004117		Approved	FKBP51, FKBP54, PPIase, P54, Ptg-10	uc003okx.2	Q13451	OTTHUMG00000014576	ENST00000539068.1:c.1176C>G	6.37:g.35544861G>C						FKBP5_ENST00000539068.1_Silent_p.S392S|FKBP5_ENST00000540787.1_Silent_p.S213S|FKBP5_ENST00000357266.4_Silent_p.S392S	p.S392S	NM_001145775.1	NP_001139247.1	Q13451	FKBP5_HUMAN			11	1491	-			392					F5H7R1|Q59EB8|Q5TGM6	Silent	SNP	ENST00000539068.1	37	c.1176C>G	CCDS4808.1																																																																																				0.517	FKBP5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040309.2			26	68	0	0	0	1	0	26	68				
CEP192	55125	broad.mit.edu	37	18	13055849	13055849	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr18:13055849T>A	ENST00000325971.8	+	17	3065	c.1472T>A	c.(1471-1473)aTg>aAg	p.M491K	CEP192_ENST00000506447.1_Missense_Mutation_p.M1087K|CEP192_ENST00000430049.2_Missense_Mutation_p.M612K			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	491					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GAACGGGCTATGGAAAAATTG	0.363																																						ENST00000506447.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(3259-3261)aTg>aAg		centrosomal protein 192kDa							56.0	56.0	56.0					18																	13055849		2203	4300	6503	SO:0001583	missense	55125							g.chr18:13055849T>A	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.1472T>A	18.37:g.13055849T>A	ENSP00000317156:p.Met491Lys					CEP192_ENST00000325971.8_Missense_Mutation_p.M491K|CEP192_ENST00000430049.2_Missense_Mutation_p.M612K	p.M1087K	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			19	3340	+			682					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.3260T>A		.	.	.	.	.	.	.	.	.	.	T	9.417	1.081907	0.20309	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.21031	2.03;2.03;2.03	4.17	0.272	0.15645	.	1.568460	0.03844	N	0.271229	T	0.13415	0.0325	L	0.36672	1.1	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.09377	0.001;0.004;0.002	T	0.18429	-1.0337	10	0.05959	T	0.93	0.9779	3.0346	0.06117	0.4213:0.2048:0.0:0.3739	.	612;1087;491	C9JT09;E9PF99;Q8TEP8	.;.;CE192_HUMAN	K	1087;491;491;612	ENSP00000427550:M1087K;ENSP00000317156:M491K;ENSP00000389190:M612K	ENSP00000317156:M491K	M	+	2	0	CEP192	13045849	0.000000	0.05858	0.053000	0.19242	0.131000	0.20780	-0.278000	0.08490	0.104000	0.17725	0.460000	0.39030	ATG		0.363	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		13	29	0	0	0	1	0	13	29				
RDH12	145226	broad.mit.edu	37	14	68191258	68191258	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr14:68191258G>A	ENST00000551171.1	+	4	461	c.137G>A	c.(136-138)gGc>gAc	p.G46D	RDH12_ENST00000267502.3_Missense_Mutation_p.G46D|RDH12_ENST00000539142.1_Missense_Mutation_p.G46D	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	46					photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	intracellular (GO:0005622)|photoreceptor inner segment membrane (GO:0060342)	retinol dehydrogenase activity (GO:0004745)			large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	GTGATCACTGGCGCCAACACG	0.542																																						ENST00000551171.1																			0				large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12						c.(136-138)gGc>gAc		retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	Vitamin A(DB00162)						256.0	209.0	225.0					14																	68191258		2203	4300	6503	SO:0001583	missense	145226				photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity	g.chr14:68191258G>A	AK054835	CCDS9787.1	14q24.1	2013-02-14	2006-05-09		ENSG00000139988	ENSG00000139988	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	19977	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 2"""	608830	"""retinol dehydrogenase 12 (all-trans and 9-cis)"""			12226107, 19027726	Standard	NM_152443		Approved	FLJ30273, SDR7C2, LCA13, RP53	uc001xjz.4	Q96NR8		ENST00000551171.1:c.137G>A	14.37:g.68191258G>A	ENSP00000449079:p.Gly46Asp					RDH12_ENST00000539142.1_Missense_Mutation_p.G46D|RDH12_ENST00000267502.3_Missense_Mutation_p.G46D	p.G46D	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN		all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	4	461	+			46					B2RDA2|Q8TAW6	Missense_Mutation	SNP	ENST00000551171.1	37	c.137G>A	CCDS9787.1	.	.	.	.	.	.	.	.	.	.	G	34	5.369136	0.95900	.	.	ENSG00000139988	ENST00000551171;ENST00000267502;ENST00000539142	D;D;D	0.99727	-6.55;-6.55;-6.55	5.32	5.32	0.75619	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99894	0.9949	H	0.99820	4.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96096	0.9065	10	0.87932	D	0	.	19.1982	0.93698	0.0:0.0:1.0:0.0	.	46	Q96NR8	RDH12_HUMAN	D	46	ENSP00000449079:G46D;ENSP00000267502:G46D;ENSP00000438715:G46D	ENSP00000267502:G46D	G	+	2	0	RDH12	67261011	1.000000	0.71417	0.970000	0.41538	0.982000	0.71751	9.171000	0.94802	2.773000	0.95371	0.655000	0.94253	GGC		0.542	RDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406918.1			18	59	0	0	0	1	0	18	59				
GPR61	83873	broad.mit.edu	37	1	110086737	110086737	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:110086737G>C	ENST00000527748.1	+	2	1776	c.1093G>C	c.(1093-1095)Gag>Cag	p.E365Q	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	365						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		GCCAGCTCCAGAGGAGGAGCT	0.567																																						ENST00000527748.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23						c.(1093-1095)Gag>Cag		G protein-coupled receptor 61							53.0	58.0	57.0					1																	110086737		2203	4300	6503	SO:0001583	missense	83873					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:110086737G>C	AF317652	CCDS801.1	1p13.3	2012-08-21			ENSG00000156097	ENSG00000156097		"""GPCR / Class A : Orphans"""	13300	protein-coding gene	gene with protein product		606916				11165367, 11690637	Standard	NM_031936		Approved	BALGR	uc001dxy.2	Q9BZJ8	OTTHUMG00000011633	ENST00000527748.1:c.1093G>C	1.37:g.110086737G>C	ENSP00000432456:p.Glu365Gln						p.E365Q	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)	2	1776	+		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	365					A8K1W2|Q6NWS0|Q8TDV4|Q96PR4	Missense_Mutation	SNP	ENST00000527748.1	37	c.1093G>C	CCDS801.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.874818	0.51695	.	.	ENSG00000156097	ENST00000527748;ENST00000286603	T	0.37584	1.19	5.2	5.2	0.72013	.	0.069159	0.64402	D	0.000016	T	0.15565	0.0375	N	0.14661	0.345	0.50171	D	0.999859	P	0.48230	0.907	B	0.41036	0.346	T	0.01988	-1.1234	10	0.35671	T	0.21	-8.8968	18.5373	0.91015	0.0:0.0:1.0:0.0	.	365	Q9BZJ8	GPR61_HUMAN	Q	365;493	ENSP00000432456:E365Q	ENSP00000286603:E493Q	E	+	1	0	GPR61	109888260	1.000000	0.71417	0.965000	0.40720	0.984000	0.73092	5.408000	0.66368	2.711000	0.92665	0.655000	0.94253	GAG		0.567	GPR61-005	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385575.1			28	32	0	0	0	1	0	28	32				
PCDH15	65217	broad.mit.edu	37	10	55996672	55996672	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr10:55996672A>G	ENST00000320301.6	-	9	1290	c.896T>C	c.(895-897)aTt>aCt	p.I299T	PCDH15_ENST00000395446.1_Missense_Mutation_p.I299T|PCDH15_ENST00000373957.3_Missense_Mutation_p.I277T|PCDH15_ENST00000395433.1_Missense_Mutation_p.I277T|PCDH15_ENST00000437009.1_Missense_Mutation_p.I299T|PCDH15_ENST00000395440.1_Missense_Mutation_p.I299T|PCDH15_ENST00000414778.1_Missense_Mutation_p.I304T|PCDH15_ENST00000395442.1_Missense_Mutation_p.I299T|PCDH15_ENST00000395432.2_Missense_Mutation_p.I262T|PCDH15_ENST00000361849.3_Missense_Mutation_p.I299T|PCDH15_ENST00000373965.2_Missense_Mutation_p.I299T|PCDH15_ENST00000373955.1_Missense_Mutation_p.I299T|PCDH15_ENST00000395430.1_Missense_Mutation_p.I299T|PCDH15_ENST00000395445.1_Missense_Mutation_p.I299T|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.I299T	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	299	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGGCGTAACAATAATGGGGTT	0.408										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(895-897)aTt>aCt		protocadherin-related 15							170.0	161.0	164.0					10																	55996672		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55996672A>G	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.896T>C	10.37:g.55996672A>G	ENSP00000322604:p.Ile299Thr	HNSCC(58;0.16)				PCDH15_ENST00000395440.1_Missense_Mutation_p.I299T|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.I299T|PCDH15_ENST00000361849.3_Missense_Mutation_p.I299T|PCDH15_ENST00000395438.1_Missense_Mutation_p.I299T|PCDH15_ENST00000437009.1_Missense_Mutation_p.I299T|PCDH15_ENST00000395433.1_Missense_Mutation_p.I277T|PCDH15_ENST00000395446.1_Missense_Mutation_p.I299T|PCDH15_ENST00000373957.3_Missense_Mutation_p.I277T|PCDH15_ENST00000320301.6_Missense_Mutation_p.I299T|PCDH15_ENST00000373955.1_Missense_Mutation_p.I299T|PCDH15_ENST00000395432.2_Missense_Mutation_p.I262T|PCDH15_ENST00000414778.1_Missense_Mutation_p.I304T|PCDH15_ENST00000395442.1_Missense_Mutation_p.I299T|PCDH15_ENST00000395445.1_Missense_Mutation_p.I299T	p.I299T	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			9	1290	-		Melanoma(3;0.117)|Lung SC(717;0.238)	299			Cadherin 3.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.896T>C	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	A	3.932	-0.015944	0.07681	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.55588	1.47;1.47;1.47;1.47;1.47;1.47;1.47;0.51;1.47;1.47;1.47;1.47;1.47;1.47;1.47	5.19	2.71	0.32032	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.28001	0.0690	N	0.11818	0.18	0.09310	N	0.999995	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.25563	0.073;0.129;0.036;0.036;0.01;0.129;0.073;0.004;0.066;0.066;0.008;0.014;0.015;0.001;0.036	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.26614	0.071;0.045;0.028;0.028;0.007;0.045;0.071;0.007;0.028;0.028;0.007;0.01;0.038;0.001;0.028	T	0.15321	-1.0441	9	0.25106	T	0.35	.	1.4642	0.02402	0.5067:0.1463:0.088:0.259	.	277;299;299;304;299;262;299;299;299;299;299;304;299;277;299	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	T	299;304;299;299;299;299;299;299;262;299;277;277;299;299;304;299;299	ENSP00000363076:I299T;ENSP00000410304:I304T;ENSP00000378826:I299T;ENSP00000378832:I299T;ENSP00000378833:I299T;ENSP00000378829:I299T;ENSP00000378827:I299T;ENSP00000378820:I262T;ENSP00000354950:I299T;ENSP00000378821:I277T;ENSP00000363068:I277T;ENSP00000322604:I299T;ENSP00000378818:I299T;ENSP00000412628:I299T;ENSP00000363066:I299T	ENSP00000322604:I299T	I	-	2	0	PCDH15	55666678	1.000000	0.71417	0.577000	0.28562	0.393000	0.30537	2.595000	0.46197	0.817000	0.34445	-0.280000	0.10049	ATT		0.408	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		23	57	0	0	0	1	0	23	57				
PALD1	27143	broad.mit.edu	37	10	72299451	72299451	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr10:72299451G>T	ENST00000263563.6	+	15	2109	c.1841G>T	c.(1840-1842)cGc>cTc	p.R614L		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	614						cytosol (GO:0005829)											AGCCAGCACCGCAGGGCCTGT	0.662																																						ENST00000263563.6																			0											c.(1840-1842)cGc>cTc		phosphatase domain containing, paladin 1							76.0	72.0	73.0					10																	72299451		2203	4300	6503	SO:0001583	missense	27143							g.chr10:72299451G>T	AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"""paladin"", ""KIAA1274"""	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.1841G>T	10.37:g.72299451G>T	ENSP00000263563:p.Arg614Leu						p.R614L	NM_014431.2	NP_055246.2					15	2109	+								B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Missense_Mutation	SNP	ENST00000263563.6	37	c.1841G>T	CCDS31215.1	.	.	.	.	.	.	.	.	.	.	g	8.251	0.808988	0.16537	.	.	ENSG00000107719	ENST00000263563;ENST00000373214	T	0.27256	1.68	4.59	1.63	0.23807	.	0.640598	0.14970	N	0.287846	T	0.16811	0.0404	L	0.39397	1.21	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.34229	-0.9837	10	0.11182	T	0.66	-1.0189	7.2409	0.26096	0.4336:0.0:0.5664:0.0	.	614	Q9ULE6	PALD_HUMAN	L	614	ENSP00000263563:R614L	ENSP00000263563:R614L	R	+	2	0	KIAA1274	71969457	0.055000	0.20627	0.122000	0.21767	0.681000	0.39784	0.530000	0.23036	0.364000	0.24374	0.444000	0.29173	CGC		0.662	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2	NM_014431		22	86	1	0	3.5997e-14	1	4.12784e-14	22	86				
SMG5	23381	broad.mit.edu	37	1	156236414	156236414	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:156236414G>A	ENST00000361813.5	-	11	1317	c.1173C>T	c.(1171-1173)ctC>ctT	p.L391L	SMG5_ENST00000368267.5_Intron|SMG5_ENST00000489907.2_5'UTR	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	391					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					CATGATTGACGAGGTGGGAAA	0.582																																						ENST00000361813.5																			0				NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48						c.(1171-1173)ctC>ctT		SMG5 nonsense mediated mRNA decay factor							103.0	98.0	100.0					1																	156236414		2203	4300	6503	SO:0001819	synonymous_variant	23381				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding	g.chr1:156236414G>A	AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog B (S. cerevisiae)"""	610962	"""smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"""			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.1173C>T	1.37:g.156236414G>A						SMG5_ENST00000368267.4_Intron	p.L391L	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN			11	1317	-	Hepatocellular(266;0.158)		391					D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Silent	SNP	ENST00000361813.5	37	c.1173C>T	CCDS1137.1																																																																																				0.582	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1	NM_015327		16	48	0	0	0	1	0	16	48				
NACA	4666	broad.mit.edu	37	12	57112023	57112023	+	Silent	SNP	T	T	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr12:57112023T>C	ENST00000454682.1	-	3	3572	c.3291A>G	c.(3289-3291)ccA>ccG	p.P1097P	NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1097	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CTTTGGGGGATGGGGTAGCTG	0.662			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3289-3291)ccA>ccG		nascent polypeptide-associated complex alpha subunit							46.0	56.0	53.0					12																	57112023		1331	2919	4250	SO:0001819	synonymous_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57112023T>C	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3291A>G	12.37:g.57112023T>C						NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron	p.P1097P	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	3572	-			0						Silent	SNP	ENST00000454682.1	37	c.3291A>G																																																																																					0.662	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		24	61	0	0	0	1	0	24	61				
CCDC108	255101	broad.mit.edu	37	2	219892531	219892531	+	Silent	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr2:219892531G>T	ENST00000341552.5	-	13	2135	c.2052C>A	c.(2050-2052)atC>atA	p.I684I	CCDC108_ENST00000453220.1_Silent_p.I684I|CCDC108_ENST00000441968.1_Silent_p.I684I|CCDC108_ENST00000409865.3_Silent_p.I673I|CCDC108_ENST00000410037.1_Silent_p.I619I	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	684						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGACCACCATGATCTTGCCCT	0.622																																						ENST00000341552.5																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(2050-2052)atC>atA		coiled-coil domain containing 108							70.0	63.0	65.0					2																	219892531		2203	4300	6503	SO:0001819	synonymous_variant	255101					integral to membrane	structural molecule activity	g.chr2:219892531G>T	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.2052C>A	2.37:g.219892531G>T						CCDC108_ENST00000453220.1_Silent_p.I684I|CCDC108_ENST00000441968.1_Silent_p.I684I|CCDC108_ENST00000410037.1_Silent_p.I619I|CCDC108_ENST00000409865.3_Silent_p.I673I	p.I684I	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	13	2135	-		Renal(207;0.0915)	684					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Silent	SNP	ENST00000341552.5	37	c.2052C>A	CCDS2430.2																																																																																				0.622	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		7	41	1	0	0.00307968	1	0.00315402	7	41				
EDC4	23644	broad.mit.edu	37	16	67914646	67914646	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr16:67914646G>C	ENST00000358933.5	+	18	2523	c.2284G>C	c.(2284-2286)Gag>Cag	p.E762Q	CTC-479C5.10_ENST00000572067.1_lincRNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	762					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTCTGCACCAGAGGGCCTTGA	0.657																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(2284-2286)Gag>Cag		enhancer of mRNA decapping 4							134.0	128.0	130.0					16																	67914646		2198	4300	6498	SO:0001583	missense	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67914646G>C	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.2284G>C	16.37:g.67914646G>C	ENSP00000351811:p.Glu762Gln						p.E762Q	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	18	2523	+		Ovarian(137;0.0563)	762					A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Missense_Mutation	SNP	ENST00000358933.5	37	c.2284G>C	CCDS10849.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.480956	0.44044	.	.	ENSG00000038358	ENST00000358933	.	.	.	5.47	5.47	0.80525	.	0.097672	0.64402	D	0.000001	T	0.25457	0.0619	N	0.24115	0.695	0.29868	N	0.82705	P	0.38335	0.627	B	0.29663	0.105	T	0.15723	-1.0427	9	0.22706	T	0.39	-12.4663	13.8383	0.63424	0.0:0.0:0.8469:0.153	.	762	Q6P2E9	EDC4_HUMAN	Q	762	.	ENSP00000351811:E762Q	E	+	1	0	EDC4	66472147	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	3.087000	0.50167	2.560000	0.86352	0.591000	0.81541	GAG		0.657	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		45	173	0	0	0	1	0	45	173				
FBXO42	54455	broad.mit.edu	37	1	16577604	16577604	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:16577604G>A	ENST00000375592.3	-	10	1931	c.1715C>T	c.(1714-1716)tCg>tTg	p.S572L		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	572										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		TGCAGAGGCCGAGGGGCCTTT	0.637																																						ENST00000375592.3																			0				autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26						c.(1714-1716)tCg>tTg		F-box protein 42							37.0	38.0	38.0					1																	16577604		2203	4300	6503	SO:0001583	missense	54455							g.chr1:16577604G>A	BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"""F-boxes /  ""other"""""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.1715C>T	1.37:g.16577604G>A	ENSP00000364742:p.Ser572Leu						p.S572L	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)	10	1931	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	572					B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Missense_Mutation	SNP	ENST00000375592.3	37	c.1715C>T	CCDS30613.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.928355	0.52759	.	.	ENSG00000037637	ENST00000375592;ENST00000456164;ENST00000444116	T;T;T	0.56103	3.67;0.48;0.48	5.52	5.52	0.82312	.	0.373893	0.30859	N	0.008731	T	0.37461	0.1004	N	0.14661	0.345	0.50813	D	0.999891	B	0.31519	0.327	B	0.19391	0.025	T	0.32587	-0.9901	10	0.59425	D	0.04	-6.1179	18.7864	0.91957	0.0:0.0:1.0:0.0	.	572	Q6P3S6	FBX42_HUMAN	L	572;290;290	ENSP00000364742:S572L;ENSP00000415663:S290L;ENSP00000412416:S290L	ENSP00000364742:S572L	S	-	2	0	FBXO42	16450191	1.000000	0.71417	0.962000	0.40283	0.897000	0.52465	6.511000	0.73733	2.767000	0.95098	0.655000	0.94253	TCG		0.637	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006285.1			17	54	0	0	0	1	0	17	54				
CHRNG	1146	broad.mit.edu	37	2	233408064	233408064	+	Silent	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr2:233408064G>T	ENST00000389494.3	+	8	906	c.885G>T	c.(883-885)gtG>gtT	p.V295V	CHRNG_ENST00000389492.3_Silent_p.V243V	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	295					muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	Galantamine(DB00674)	CCAAGAAGGTGCCTGAAACCT	0.592																																						ENST00000389494.3																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22						c.(883-885)gtG>gtT		cholinergic receptor, nicotinic, gamma (muscle)							98.0	93.0	95.0					2																	233408064		2203	4300	6503	SO:0001819	synonymous_variant	1146				muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity	g.chr2:233408064G>T	X01715	CCDS33400.1	2q37.1	2012-10-02	2012-02-07		ENSG00000196811	ENSG00000196811		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1967	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, gamma (muscle)"""	100730	"""cholinergic receptor, nicotinic, gamma"""	ACHRG			Standard	NM_005199		Approved		uc002vsx.1	P07510	OTTHUMG00000153327	ENST00000389494.3:c.885G>T	2.37:g.233408064G>T						CHRNG_ENST00000389492.3_Silent_p.V243V	p.V295V	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	8	906	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	295					B3KWM8|Q14DU4|Q53RG2	Silent	SNP	ENST00000389494.3	37	c.885G>T	CCDS33400.1																																																																																				0.592	CHRNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330743.1	NM_005199		13	33	1	0	7.03913e-09	1	7.63e-09	13	33				
MGAM	8972	broad.mit.edu	37	7	141736626	141736626	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr7:141736626C>A	ENST00000549489.2	+	18	2175	c.2080C>A	c.(2080-2082)Cag>Aag	p.Q694K	MGAM_ENST00000475668.2_Missense_Mutation_p.Q694K	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	694	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTCCCAGGACCAGGATCCTGC	0.488																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(2080-2082)Cag>Aag		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						144.0	150.0	148.0					7																	141736626		2129	4241	6370	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141736626C>A	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.2080C>A	7.37:g.141736626C>A	ENSP00000447378:p.Gln694Lys					MGAM_ENST00000549489.2_Missense_Mutation_p.Q694K	p.Q694K			O43451	MGA_HUMAN			18	2134	+	Melanoma(164;0.0272)		694			Maltase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.2080C>A	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.247252	0.80024	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.91740	-2.9	5.81	5.81	0.92471	Glycoside hydrolase, superfamily (1);	0.000000	0.50627	D	0.000107	D	0.96433	0.8836	M	0.88181	2.935	0.40629	D	0.981837	D	0.89917	1.0	D	0.80764	0.994	D	0.96980	0.9714	10	0.72032	D	0.01	.	14.364	0.66792	0.1486:0.8514:0.0:0.0	.	694	O43451	MGA_HUMAN	K	694;694;571	ENSP00000447378:Q694K	ENSP00000316431:Q571K	Q	+	1	0	MGAM	141383095	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	5.918000	0.69996	2.763000	0.94921	0.650000	0.86243	CAG		0.488	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			40	115	1	0	7.53189e-24	1	8.80698e-24	40	115				
PIGG	54872	broad.mit.edu	37	4	493239	493239	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr4:493239G>C	ENST00000453061.2	+	1	221	c.115G>C	c.(115-117)Gaa>Caa	p.E39Q	PIGG_ENST00000503111.1_5'UTR|PIGG_ENST00000536264.1_5'UTR|PIGG_ENST00000296306.7_5'UTR|PIGG_ENST00000383028.4_Missense_Mutation_p.E39Q|ZNF721_ENST00000338977.5_5'Flank|PIGG_ENST00000504346.1_Intron|PIGG_ENST00000310340.5_Missense_Mutation_p.E39Q|PIGG_ENST00000509768.1_5'UTR|ZNF721_ENST00000511833.2_5'Flank|PIGG_ENST00000502311.1_3'UTR	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	39					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						TGCCAGAGCGGAACACGGAGC	0.652																																						ENST00000453061.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						c.(115-117)Gaa>Caa		phosphatidylinositol glycan anchor biosynthesis, class G							36.0	33.0	34.0					4																	493239		2203	4299	6502	SO:0001583	missense	54872				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity	g.chr4:493239G>C		CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"""Phosphatidylinositol glycan anchor biosynthesis"""	25985	protein-coding gene	gene with protein product			"""phosphatidylinositol glycan, class G"""			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.115G>C	4.37:g.493239G>C	ENSP00000415203:p.Glu39Gln					PIGG_ENST00000296306.7_5'UTR|PIGG_ENST00000310340.5_Missense_Mutation_p.E39Q|PIGG_ENST00000503111.1_5'UTR|PIGG_ENST00000504346.1_Intron|PIGG_ENST00000502311.1_3'UTR|PIGG_ENST00000509768.1_5'UTR|PIGG_ENST00000383028.4_Missense_Mutation_p.E39Q|PIGG_ENST00000536264.1_5'UTR	p.E39Q	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN			1	221	+			39					B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Missense_Mutation	SNP	ENST00000453061.2	37	c.115G>C	CCDS46992.1	.	.	.	.	.	.	.	.	.	.	G	9.520	1.107991	0.20714	.	.	ENSG00000174227	ENST00000310340;ENST00000453061;ENST00000383028	T;T;T	0.10099	3.23;3.24;2.91	4.4	0.311	0.15831	.	0.678333	0.15105	N	0.280304	T	0.05364	0.0142	N	0.22421	0.69	0.20638	N	0.999874	B;B;B	0.29432	0.002;0.158;0.244	B;B;B	0.24701	0.004;0.025;0.055	T	0.39702	-0.9601	10	0.21540	T	0.41	.	4.3402	0.11106	0.2171:0.3688:0.4141:0.0	.	39;39;39	Q5H8A4-3;Q5H8A4;Q5H8A4-2	.;PIGG_HUMAN;.	Q	39	ENSP00000311750:E39Q;ENSP00000415203:E39Q;ENSP00000372494:E39Q	ENSP00000311750:E39Q	E	+	1	0	PIGG	483239	0.100000	0.21855	0.016000	0.15963	0.001000	0.01503	1.432000	0.34936	0.410000	0.25675	-0.312000	0.09012	GAA		0.652	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1	NM_017733		5	13	0	0	0	1	0	5	13				
RASGRP1	10125	broad.mit.edu	37	15	38792304	38792304	+	Splice_Site	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr15:38792304C>G	ENST00000310803.5	-	14	1897	c.1720G>C	c.(1720-1722)Gac>Cac	p.D574H	RP11-102L12.2_ENST00000560231.1_RNA|RASGRP1_ENST00000450598.2_Splice_Site_p.D539H|RASGRP1_ENST00000561180.1_Splice_Site_p.D625H|RASGRP1_ENST00000559830.1_Splice_Site_p.D539H|RASGRP1_ENST00000539159.1_Splice_Site_p.D526H|RASGRP1_ENST00000558164.1_Splice_Site_p.G539R	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	574					activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TGAGTCTTACCTTTACATCGA	0.428																																						ENST00000310803.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.e14+1		RAS guanyl releasing protein 1 (calcium and DAG-regulated)							215.0	213.0	214.0					15																	38792304		1937	4153	6090	SO:0001630	splice_region_variant	10125				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding	g.chr15:38792304C>G	AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"""EF-hand domain containing"""	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.1720+1G>C	15.37:g.38792304C>G						RASGRP1_ENST00000539159.1_Splice_Site_p.D526_splice|RASGRP1_ENST00000561180.1_Splice_Site_p.D625_splice|RASGRP1_ENST00000450598.2_Splice_Site_p.D539_splice|RASGRP1_ENST00000559830.1_Splice_Site_p.D539_splice|RASGRP1_ENST00000558164.1_Splice_Site_p.G539_splice	p.D574_splice	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)	14	1897	-		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)	574					Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Splice_Site	SNP	ENST00000310803.5	37	c.1720_splice	CCDS45222.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.7|27.7	4.855700|4.855700	0.91355|0.91355	.|.	.|.	ENSG00000172575|ENSG00000172575	ENST00000310803;ENST00000450598;ENST00000415523;ENST00000539159|ENST00000431814	D;D;D|.	0.93076|.	-3.16;-3.16;-3.16|.	5.05|5.05	5.05|5.05	0.67936|0.67936	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);|.	0.151243|.	0.56097|.	N|.	0.000023|.	T|T	0.77246|0.77246	0.4102|0.4102	M|M	0.81497|0.81497	2.545|2.545	0.80722|0.80722	D|D	1|1	D;D;D|D	0.89917|0.67145	1.0;1.0;1.0|0.996	D;D;D|P	0.83275|0.57283	0.996;0.996;0.996|0.817	T|T	0.79102|0.79102	-0.1941|-0.1941	9|7	.|.	.|.	.|.	-26.5287|-26.5287	18.5957|18.5957	0.91228|0.91228	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	539;574;539|539	C9JCE5;O95267;O95267-2|C9JM27	.;GRP1_HUMAN;.|.	H|R	574;539;539;526|539	ENSP00000310244:D574H;ENSP00000388540:D539H;ENSP00000444762:D526H|.	.|.	D|G	-|-	1|1	0|0	RASGRP1|RASGRP1	36579596|36579596	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	7.600000|7.600000	0.82769|0.82769	2.614000|2.614000	0.88457|0.88457	0.655000|0.655000	0.94253|0.94253	GAC|GGA		0.428	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418223.1	NM_005739	Missense_Mutation	17	63	0	0	0	1	0	17	63				
KCNJ14	3770	broad.mit.edu	37	19	48967826	48967826	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr19:48967826A>T	ENST00000391884.1	+	2	1579	c.1103A>T	c.(1102-1104)gAa>gTa	p.E368V	CTC-273B12.7_ENST00000595676.1_5'Flank|CTC-273B12.6_ENST00000597574.1_lincRNA|CTC-273B12.5_ENST00000596497.1_RNA|CTC-273B12.5_ENST00000600650.1_RNA|CTC-273B12.5_ENST00000600529.1_RNA|KCNJ14_ENST00000342291.2_Missense_Mutation_p.E368V|CTC-273B12.5_ENST00000593476.1_RNA			Q9UNX9	KCJ14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	368					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	Yohimbine(DB01392)	GAGCTGGATGAACGGGCAGAG	0.557																																					NSCLC(148;170 3504 35216)	ENST00000391884.1																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10						c.(1102-1104)gAa>gTa		potassium inwardly-rectifying channel, subfamily J, member 14							66.0	64.0	65.0					19																	48967826		2203	4300	6503	SO:0001583	missense	3770					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr19:48967826A>T	BC042033	CCDS12721.1	19q13	2011-07-05				ENSG00000182324		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6260	protein-coding gene	gene with protein product		603953				9592090, 10723734, 16382105	Standard	NM_013348		Approved	Kir2.4, IRK4	uc002pje.2	Q9UNX9		ENST00000391884.1:c.1103A>T	19.37:g.48967826A>T	ENSP00000375756:p.Glu368Val					KCNJ14_ENST00000342291.2_Missense_Mutation_p.E368V	p.E368V			Q9UNX9	IRK14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	2	1579	+		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	368						Missense_Mutation	SNP	ENST00000391884.1	37	c.1103A>T	CCDS12721.1	.	.	.	.	.	.	.	.	.	.	A	19.62	3.862178	0.71949	.	.	ENSG00000182324	ENST00000342291;ENST00000391884	D;D	0.94576	-3.46;-3.46	5.24	4.21	0.49690	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.213333	0.41605	D	0.000849	D	0.97387	0.9145	H	0.94222	3.51	0.42993	D	0.994491	P	0.49635	0.926	P	0.59357	0.856	D	0.97607	1.0127	10	0.87932	D	0	.	10.9383	0.47257	0.8423:0.1577:0.0:0.0	.	368	Q9UNX9	IRK14_HUMAN	V	368	ENSP00000341479:E368V;ENSP00000375756:E368V	ENSP00000341479:E368V	E	+	2	0	KCNJ14	53659638	1.000000	0.71417	0.938000	0.37757	0.993000	0.82548	7.422000	0.80217	1.055000	0.40461	0.533000	0.62120	GAA		0.557	KCNJ14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466127.1	NM_013348		12	52	0	0	0	1	0	12	52				
HIST1H2AE	3012	broad.mit.edu	37	6	26217509	26217509	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:26217509A>T	ENST00000303910.2	+	1	345	c.307A>T	c.(307-309)Atc>Ttc	p.I103F	HIST1H2BG_ENST00000244601.3_5'Flank	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	103						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				TCGCGTGACCATCGCGCAGGG	0.577																																						ENST00000303910.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10						c.(307-309)Atc>Ttc		histone cluster 1, H2ae							76.0	74.0	74.0					6																	26217509		2203	4300	6503	SO:0001583	missense	3012				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26217509A>T	M60752	CCDS4595.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000168274	ENSG00000277075		"""Histones / Replication-dependent"""	4724	protein-coding gene	gene with protein product		602786	"""H2A histone family, member A"", ""histone 1, H2ae"""	H2AFA		9119399, 1916825, 12408966	Standard	NM_021052		Approved	H2A/a, H2A.1	uc003nha.1	P04908	OTTHUMG00000014440	ENST00000303910.2:c.307A>T	6.37:g.26217509A>T	ENSP00000303373:p.Ile103Phe						p.I103F	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN			1	345	+		all_hematologic(11;0.196)	103					P28001|Q76P63	Missense_Mutation	SNP	ENST00000303910.2	37	c.307A>T	CCDS4595.1	.	.	.	.	.	.	.	.	.	.	.	13.63	2.293847	0.40594	.	.	ENSG00000168274	ENST00000303910	T	0.49432	0.78	4.07	4.07	0.47477	.	0.000000	0.34555	U	0.003879	T	0.60843	0.2300	M	0.87456	2.885	0.52501	D	0.999958	.	.	.	.	.	.	T	0.69654	-0.5087	8	0.87932	D	0	.	12.6507	0.56759	1.0:0.0:0.0:0.0	.	.	.	.	F	103	ENSP00000303373:I103F	ENSP00000303373:I103F	I	+	1	0	HIST1H2AE	26325488	1.000000	0.71417	0.958000	0.39756	0.023000	0.10783	9.055000	0.93873	1.834000	0.53371	0.528000	0.53228	ATC		0.577	HIST1H2AE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040103.1	NM_021052		19	69	0	0	0	1	0	19	69				
PFDN4	5203	broad.mit.edu	37	20	52830980	52830980	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr20:52830980G>A	ENST00000371419.2	+	2	369	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	PFDN4_ENST00000487129.1_3'UTR	NM_002623.3	NP_002614.2	Q9NQP4	PFD4_HUMAN	prefoldin subunit 4	39					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chaperone binding (GO:0051087)			endometrium(1)|kidney(2)	3	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		Colorectal(105;0.124)|STAD - Stomach adenocarcinoma(23;0.206)			GCTGAAGGAAGAAATAGAAGT	0.284																																						ENST00000371419.2																			0				endometrium(1)|kidney(2)	3						c.(115-117)Gaa>Aaa		prefoldin subunit 4							25.0	24.0	25.0					20																	52830980		2203	4293	6496	SO:0001583	missense	5203				'de novo' posttranslational protein folding	prefoldin complex	chaperone binding|unfolded protein binding	g.chr20:52830980G>A	U41816	CCDS13445.1	20q13.2	2008-07-02	2006-02-24		ENSG00000101132	ENSG00000101132			8868	protein-coding gene	gene with protein product		604898	"""prefoldin 4"""			9630229, 8744932	Standard	NM_002623		Approved	PFD4, C-1, C1	uc002xwx.3	Q9NQP4	OTTHUMG00000032775	ENST00000371419.2:c.115G>A	20.37:g.52830980G>A	ENSP00000360473:p.Glu39Lys					PFDN4_ENST00000487129.1_3'UTR	p.E39K	NM_002623.3	NP_002614.2	Q9NQP4	PFD4_HUMAN	Colorectal(105;0.124)|STAD - Stomach adenocarcinoma(23;0.206)		2	369	+	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		39					Q5TD11|Q92779	Missense_Mutation	SNP	ENST00000371419.2	37	c.115G>A	CCDS13445.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.788621	0.90367	.	.	ENSG00000101132	ENST00000371419	T	0.42513	0.97	4.96	4.96	0.65561	Prefoldin beta-like (1);Prefoldin (1);	0.000000	0.85682	D	0.000000	T	0.50222	0.1603	M	0.67569	2.06	0.80722	D	1	P	0.45531	0.86	P	0.47075	0.536	T	0.46359	-0.9197	10	0.27785	T	0.31	-29.0251	17.5353	0.87829	0.0:0.0:1.0:0.0	.	39	Q9NQP4	PFD4_HUMAN	K	39	ENSP00000360473:E39K	ENSP00000360473:E39K	E	+	1	0	PFDN4	52264387	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.591000	0.98241	2.451000	0.82905	0.655000	0.94253	GAA		0.284	PFDN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079771.2	NM_002623		4	11	0	0	0	1	0	4	11				
IGF2R	3482	broad.mit.edu	37	6	160525931	160525931	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:160525931A>T	ENST00000356956.1	+	48	7439	c.7291A>T	c.(7291-7293)Agc>Tgc	p.S2431C	IGF2R_ENST00000475584.1_Intron	NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2431					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	TGGGGCAGAGAGCTCCCACCC	0.607																																						ENST00000356956.1																			0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(7291-7293)Agc>Tgc		insulin-like growth factor 2 receptor							114.0	103.0	107.0					6																	160525931		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160525931A>T	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.7291A>T	6.37:g.160525931A>T	ENSP00000349437:p.Ser2431Cys					IGF2R_ENST00000475584.1_Intron	p.S2431C	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	48	7439	+		Breast(66;0.000777)|Ovarian(120;0.0305)	2431					Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.7291A>T	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	A	15.69	2.907645	0.52333	.	.	ENSG00000197081	ENST00000356956	T	0.11385	2.78	5.07	0.976	0.19727	.	0.652875	0.16278	N	0.221465	T	0.05502	0.0145	M	0.65975	2.015	0.19575	N	0.999964	P	0.50369	0.934	B	0.43916	0.436	T	0.19386	-1.0307	10	0.56958	D	0.05	-7.7746	6.7207	0.23328	0.3885:0.0:0.6115:0.0	.	2431	P11717	MPRI_HUMAN	C	2431	ENSP00000349437:S2431C	ENSP00000349437:S2431C	S	+	1	0	IGF2R	160445921	0.000000	0.05858	0.038000	0.18304	0.591000	0.36615	0.231000	0.17872	0.347000	0.23924	0.533000	0.62120	AGC		0.607	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		22	78	0	0	0	1	0	22	78				
SGK2	10110	broad.mit.edu	37	20	42198105	42198105	+	Silent	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr20:42198105C>T	ENST00000341458.4	+	5	708	c.489C>T	c.(487-489)ttC>ttT	p.F163F	SGK2_ENST00000373100.1_Silent_p.F103F|SGK2_ENST00000373077.1_Silent_p.F102F|SGK2_ENST00000373092.3_Silent_p.F103F|SGK2_ENST00000426287.1_Silent_p.F129F|SGK2_ENST00000423407.3_Silent_p.F103F	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	163	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|ion transmembrane transport (GO:0034220)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GCTACTCCTTCCAGACACCTG	0.617																																						ENST00000373100.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(307-309)ttC>ttT		serum/glucocorticoid regulated kinase 2							88.0	66.0	73.0					20																	42198105		2203	4300	6503	SO:0001819	synonymous_variant	10110				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity	g.chr20:42198105C>T	AF169034	CCDS13320.1, CCDS13321.1	20q13.2	2008-07-04			ENSG00000101049	ENSG00000101049			13900	protein-coding gene	gene with protein product		607589				10548550	Standard	NM_016276		Approved		uc002xkv.3	Q9HBY8	OTTHUMG00000033054	ENST00000341458.4:c.489C>T	20.37:g.42198105C>T						SGK2_ENST00000426287.1_Silent_p.F129F|SGK2_ENST00000341458.4_Silent_p.F163F|SGK2_ENST00000423407.3_Silent_p.F103F|SGK2_ENST00000373092.3_Silent_p.F103F|SGK2_ENST00000373077.1_Silent_p.F102F	p.F103F			Q9HBY8	SGK2_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		7	769	+		Myeloproliferative disorder(115;0.00452)	163			Protein kinase.		Q52PK5|Q5H8Y6|Q5H8Z1|Q5TZR3|Q9UKG6	Silent	SNP	ENST00000341458.4	37	c.309C>T	CCDS13320.1																																																																																				0.617	SGK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080383.1			16	46	0	0	0	1	0	16	46				
ZNF862	643641	broad.mit.edu	37	7	149558224	149558224	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr7:149558224C>G	ENST00000223210.4	+	7	2220	c.1975C>G	c.(1975-1977)Ctg>Gtg	p.L659V	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	659					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						CTACATCACTCTGGCCCCTCT	0.587																																						ENST00000223210.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						c.(1975-1977)Ctg>Gtg		zinc finger protein 862							27.0	29.0	28.0					7																	149558224		2090	4216	6306	SO:0001583	missense	643641				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity	g.chr7:149558224C>G	AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"""Zinc fingers, C2H2-type"", ""-"""	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.1975C>G	7.37:g.149558224C>G	ENSP00000223210:p.Leu659Val						p.L659V	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN			7	2220	+			659					A0AUL8	Missense_Mutation	SNP	ENST00000223210.4	37	c.1975C>G	CCDS47741.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.581401	0.28180	.	.	ENSG00000106479	ENST00000223210	T	0.21031	2.03	5.28	1.45	0.22620	Ribonuclease H-like (1);	0.000000	0.39834	N	0.001244	T	0.39009	0.1062	L	0.61218	1.895	0.22666	N	0.998877	D	0.76494	0.999	D	0.76071	0.987	T	0.16541	-1.0399	10	0.48119	T	0.1	-38.9599	11.4906	0.50379	0.0:0.8705:0.0:0.1295	.	659	O60290	ZN862_HUMAN	V	659	ENSP00000223210:L659V	ENSP00000223210:L659V	L	+	1	2	ZNF862	149189157	0.057000	0.20700	0.395000	0.26283	0.651000	0.38670	-0.030000	0.12308	0.128000	0.18479	0.655000	0.94253	CTG		0.587	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	NM_001099220		4	23	0	0	0	1	0	4	23				
PRKDC	5591	broad.mit.edu	37	8	48798592	48798592	+	Missense_Mutation	SNP	G	G	C	rs527806311		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr8:48798592G>C	ENST00000314191.2	-	37	4742	c.4686C>G	c.(4684-4686)ttC>ttG	p.F1562L	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.F1562L	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1563					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TCGTTTCTGAGAACAAGCTAT	0.473								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(4684-4686)ttC>ttG	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							121.0	123.0	123.0					8																	48798592		1904	4145	6049	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48798592G>C		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.4686C>G	8.37:g.48798592G>C	ENSP00000313420:p.Phe1562Leu					PRKDC_ENST00000338368.3_Missense_Mutation_p.F1562L|PRKDC_ENST00000523565.1_5'UTR	p.F1562L	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			37	4742	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	1563					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.4686C>G		.	.	.	.	.	.	.	.	.	.	G	20.4	3.985378	0.74474	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.08896	3.1;3.04	5.5	1.69	0.24217	.	0.000000	0.85682	D	0.000000	T	0.22781	0.0550	M	0.74881	2.28	0.51482	D	0.99992	D;P	0.69078	0.997;0.941	D;P	0.66196	0.942;0.77	T	0.00274	-1.1857	10	0.72032	D	0.01	.	9.1934	0.37213	0.4251:0.0:0.5749:0.0	.	1562;1563	E7EUY0;P78527	.;PRKDC_HUMAN	L	1562	ENSP00000313420:F1562L;ENSP00000345182:F1562L	ENSP00000313420:F1562L	F	-	3	2	PRKDC	48961145	1.000000	0.71417	0.991000	0.47740	0.890000	0.51754	2.021000	0.41020	0.022000	0.15160	0.643000	0.83706	TTC		0.473	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		12	126	0	0	0	1	0	12	126				
LAMB4	22798	broad.mit.edu	37	7	107692621	107692621	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr7:107692621C>G	ENST00000388781.3	-	26	3920	c.3837G>C	c.(3835-3837)aaG>aaC	p.K1279N	LAMB4_ENST00000205386.4_Missense_Mutation_p.K1279N|LAMB4_ENST00000388780.3_Missense_Mutation_p.K1279N	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1279	Domain II.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CTGCTTCATTCTTTGCTCTTT	0.358																																						ENST00000388781.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						c.(3835-3837)aaG>aaC		laminin, beta 4							196.0	185.0	188.0					7																	107692621		2203	4300	6503	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107692621C>G	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.3837G>C	7.37:g.107692621C>G	ENSP00000373433:p.Lys1279Asn					LAMB4_ENST00000205386.4_Missense_Mutation_p.K1279N|LAMB4_ENST00000388780.3_Missense_Mutation_p.K1279N	p.K1279N	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN			26	3920	-			1279			Domain II.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.3837G>C	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	C	7.364	0.625459	0.14257	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.32023	1.47;1.47;1.89;1.49	4.99	1.11	0.20524	.	0.823203	0.10628	N	0.652534	T	0.14227	0.0344	N	0.14661	0.345	0.09310	N	1	B;B	0.26672	0.05;0.156	B;B	0.21917	0.026;0.037	T	0.30880	-0.9963	10	0.20046	T	0.44	.	4.0036	0.09590	0.2805:0.4811:0.0:0.2383	.	1279;1279	A4D0S4-3;A4D0S4	.;LAMB4_HUMAN	N	1279;1279;305;1279	ENSP00000205386:K1279N;ENSP00000373433:K1279N;ENSP00000416562:K305N;ENSP00000373432:K1279N	ENSP00000205386:K1279N	K	-	3	2	LAMB4	107479857	0.002000	0.14202	0.008000	0.14137	0.801000	0.45260	-0.101000	0.10973	0.031000	0.15407	0.655000	0.94253	AAG		0.358	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		15	55	0	0	0	1	0	15	55				
SPAM1	6677	broad.mit.edu	37	7	123594531	123594531	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr7:123594531T>A	ENST00000439500.1	+	4	1520	c.907T>A	c.(907-909)Tat>Aat	p.Y303N	SPAM1_ENST00000340011.5_Missense_Mutation_p.Y303N|SPAM1_ENST00000402183.2_Missense_Mutation_p.Y303N|SPAM1_ENST00000223028.7_Missense_Mutation_p.Y303N|SPAM1_ENST00000460182.1_Missense_Mutation_p.Y303N	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	303					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGTTTTTGCATATACCCGCAT	0.403																																						ENST00000340011.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(907-909)Tat>Aat		sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	Hyaluronidase(DB00070)						41.0	40.0	40.0					7																	123594531		2202	4299	6501	SO:0001583	missense	6677				binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	g.chr7:123594531T>A	L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.907T>A	7.37:g.123594531T>A	ENSP00000402123:p.Tyr303Asn					SPAM1_ENST00000460182.1_Missense_Mutation_p.Y303N|SPAM1_ENST00000439500.1_Missense_Mutation_p.Y303N|SPAM1_ENST00000402183.2_Missense_Mutation_p.Y303N|SPAM1_ENST00000223028.7_Missense_Mutation_p.Y303N	p.Y303N	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN			3	1264	+			303					Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	c.907T>A	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.607770	0.87258	.	.	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14	6.17	6.17	0.99709	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.72867	0.3514	H	0.96365	3.81	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82086	-0.0631	9	.	.	.	-61.0096	16.0034	0.80327	0.0:0.0:0.0:1.0	.	303;303	Q8TC30;P38567	.;HYALP_HUMAN	N	303	ENSP00000386028:Y303N;ENSP00000417934:Y303N;ENSP00000345849:Y303N;ENSP00000402123:Y303N;ENSP00000223028:Y303N	.	Y	+	1	0	SPAM1	123381767	1.000000	0.71417	0.501000	0.27601	0.007000	0.05969	7.587000	0.82613	2.371000	0.80710	0.533000	0.62120	TAT		0.403	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			8	26	0	0	0	1	0	8	26				
NOTCH1	4851	broad.mit.edu	37	9	139400146	139400146	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr9:139400146C>T	ENST00000277541.6	-	25	4277	c.4202G>A	c.(4201-4203)gGg>gAg	p.G1401E		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1401	EGF-like 36. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CTCACAGGTCCCCTGGTTGTA	0.672			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(4201-4203)gGg>gAg		notch 1							17.0	22.0	20.0					9																	139400146		1893	4089	5982	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139400146C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.4202G>A	9.37:g.139400146C>T	ENSP00000277541:p.Gly1401Glu	HNSCC(8;0.001)					p.G1401E	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	25	4277	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1401			EGF-like 36.		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.4202G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.564754	0.45694	.	.	ENSG00000148400	ENST00000277541	T	0.78481	-1.18	4.25	3.34	0.38264	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.91016	0.7174	H	0.96604	3.85	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.91958	0.5576	10	0.87932	D	0	.	11.2252	0.48880	0.0:0.9091:0.0:0.0909	.	1401	P46531	NOTC1_HUMAN	E	1401	ENSP00000277541:G1401E	ENSP00000277541:G1401E	G	-	2	0	NOTCH1	138519967	1.000000	0.71417	0.893000	0.35052	0.147000	0.21601	7.330000	0.79181	0.768000	0.33290	-0.163000	0.13421	GGG		0.672	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		6	9	0	0	0	1	0	6	9				
SNHG24	101929369	broad.mit.edu	37	14	101441178	101441178	+	lincRNA	SNP	T	T	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr14:101441178T>A	ENST00000554693.2	+	0	462				SNORD114-18_ENST00000365272.1_RNA|SNORD113_ENST00000364630.1_RNA|SNORD114-17_ENST00000364699.1_RNA|SNORD114-19_ENST00000363072.1_RNA|SNORD114-14_ENST00000362723.1_RNA|SNORD114-16_ENST00000363044.1_RNA|SNORD114-15_ENST00000364687.1_RNA																							ATTGGAGTTATGGACGATGAA	0.373																																						ENST00000554693.2																			0																				124.0	105.0	111.0					14																	101441178		876	1991	2867			101929369							g.chr14:101441178T>A																													14.37:g.101441178T>A						SNORD114-17_ENST00000364699.1_RNA								0	462	+									RNA	SNP	ENST00000554693.2	37																																																																																						0.373	RP11-909M7.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000468646.1			14	33	0	0	0	1	0	14	33				
DEPDC7	91614	broad.mit.edu	37	11	33049326	33049326	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr11:33049326C>T	ENST00000241051.3	+	3	651	c.559C>T	c.(559-561)Cat>Tat	p.H187Y	DEPDC7_ENST00000311388.3_Missense_Mutation_p.H178Y	NM_001077242.1	NP_001070710.1	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	187					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						caactcccctcatgtaaatat	0.363																																						ENST00000311388.3																			0				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						c.(532-534)Cat>Tat		DEP domain containing 7							85.0	83.0	84.0					11																	33049326		1831	4072	5903	SO:0001583	missense	91614				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:33049326C>T		CCDS41632.1, CCDS41633.1	11p13	2006-03-24			ENSG00000121690	ENSG00000121690			29899	protein-coding gene	gene with protein product		612294				10568747	Standard	NM_001077242		Approved		uc001mub.3	Q96QD5	OTTHUMG00000166242	ENST00000241051.3:c.559C>T	11.37:g.33049326C>T	ENSP00000241051:p.His187Tyr					DEPDC7_ENST00000241051.3_Missense_Mutation_p.H187Y	p.H178Y	NM_139160.2	NP_631899.2	Q96QD5	DEPD7_HUMAN			3	908	+			187					G5E941|Q8N602|Q8NCU9|Q9UGK5	Missense_Mutation	SNP	ENST00000241051.3	37	c.532C>T	CCDS41632.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.692828	0.30052	.	.	ENSG00000121690	ENST00000241051;ENST00000311388	T;T	0.14022	2.54;2.54	5.76	1.75	0.24633	.	0.920070	0.09439	N	0.801971	T	0.07143	0.0181	L	0.44542	1.39	0.09310	N	1	P;B;B	0.40398	0.716;0.217;0.167	B;B;B	0.27608	0.081;0.06;0.038	T	0.24799	-1.0150	10	0.07990	T	0.79	-0.1332	3.3051	0.06997	0.1415:0.5722:0.1366:0.1497	.	187;178;187	B4DJ78;G5E941;Q96QD5	.;.;DEPD7_HUMAN	Y	187;178	ENSP00000241051:H187Y;ENSP00000308971:H178Y	ENSP00000241051:H187Y	H	+	1	0	DEPDC7	33005902	0.014000	0.17966	0.011000	0.14972	0.996000	0.88848	0.628000	0.24522	0.074000	0.16767	0.555000	0.69702	CAT		0.363	DEPDC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388655.1	NM_139160		5	12	0	0	0	1	0	5	12				
ORC1	4998	broad.mit.edu	37	1	52840499	52840499	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:52840499C>T	ENST00000371568.3	-	16	2592	c.2374G>A	c.(2374-2376)Gaa>Aaa	p.E792K	ORC1_ENST00000371566.1_Missense_Mutation_p.E792K	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	792	Necessary and sufficient for ORC complex assembly.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AACGTGGCTTCCTCCAGTCCT	0.433																																						ENST00000371568.3																			0				breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(2374-2376)Gaa>Aaa		origin recognition complex, subunit 1							71.0	70.0	71.0					1																	52840499		2203	4300	6503	SO:0001583	missense	4998				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding	g.chr1:52840499C>T		CCDS566.1	1p32	2010-10-12	2010-10-12	2010-10-12	ENSG00000085840	ENSG00000085840		"""ATPases / AAA-type"""	8487	protein-coding gene	gene with protein product	"""origin recognition complex, subunit 1, S. cerevisiae, homolog-like"", ""origin recognition complex 1"", ""replication control protein 1"""	601902	"""origin recognition complex, subunit 1 (yeast homolog)-like"", ""origin recognition complex, subunit 1-like (yeast)"", ""origin recognition complex, subunit 1 homolog (S. cerevisiae)"""	ORC1L		8884289	Standard	NM_004153		Approved	HSORC1, PARC1	uc001ctu.3	Q13415	OTTHUMG00000008104	ENST00000371568.3:c.2374G>A	1.37:g.52840499C>T	ENSP00000360623:p.Glu792Lys					ORC1_ENST00000371566.1_Missense_Mutation_p.E792K	p.E792K	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN			16	2592	-			792			Necessary and sufficient for ORC complex assembly.		D3DQ34|Q13471|Q5T0F5	Missense_Mutation	SNP	ENST00000371568.3	37	c.2374G>A	CCDS566.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974238	0.74246	.	.	ENSG00000085840	ENST00000371568;ENST00000371566	T;T	0.49432	0.78;0.78	5.85	4.94	0.65067	CDC6, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72614	0.3482	M	0.87900	2.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.78775	-0.2072	10	0.87932	D	0	-20.0766	14.9421	0.71003	0.0:0.9317:0.0:0.0683	.	787;792	B7Z8H0;Q13415	.;ORC1_HUMAN	K	792	ENSP00000360623:E792K;ENSP00000360621:E792K	ENSP00000360621:E792K	E	-	1	0	ORC1	52613087	1.000000	0.71417	1.000000	0.80357	0.291000	0.27294	7.303000	0.78871	1.481000	0.48307	-0.136000	0.14681	GAA		0.433	ORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022202.1	NM_004153		3	23	0	0	0	1	0	3	23				
LAP3	51056	broad.mit.edu	37	4	17598725	17598725	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr4:17598725G>A	ENST00000226299.4	+	9	1319	c.1045G>A	c.(1045-1047)Gtt>Att	p.V349I	RN7SL315P_ENST00000580348.1_RNA|LAP3_ENST00000606142.1_Missense_Mutation_p.V318I|AC006160.5_ENST00000511010.1_RNA|LAP3_ENST00000503467.1_3'UTR	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	349					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						GCCGGGGGATGTTGTTAGAGC	0.502																																						ENST00000226299.4																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						c.(1045-1047)Gtt>Att		leucine aminopeptidase 3							90.0	81.0	84.0					4																	17598725		2203	4300	6503	SO:0001583	missense	51056				proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding	g.chr4:17598725G>A	AF061738	CCDS3422.1	4p15.33	2012-07-25	2003-09-12		ENSG00000002549	ENSG00000002549	3.4.11.1		18449	protein-coding gene	gene with protein product		170250	"""peptidase S"""	PEPS		6350155, 689684	Standard	NM_015907		Approved	LAPEP, LAP	uc003gph.1	P28838	OTTHUMG00000048214	ENST00000226299.4:c.1045G>A	4.37:g.17598725G>A	ENSP00000226299:p.Val349Ile					LAP3_ENST00000503467.1_3'UTR|AC006160.5_ENST00000511010.1_RNA|LAP3_ENST00000606142.1_Missense_Mutation_p.V318I	p.V349I	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN			9	1319	+			349					B3KMQ3|Q6IAM6|Q6P0L6|Q9UQE3	Missense_Mutation	SNP	ENST00000226299.4	37	c.1045G>A	CCDS3422.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.957244	0.92726	.	.	ENSG00000002549	ENST00000226299	T	0.41758	0.99	4.83	4.83	0.62350	Peptidase M17, leucyl aminopeptidase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.48607	0.1509	L	0.37630	1.12	0.80722	D	1	P	0.51240	0.943	P	0.55455	0.776	T	0.31251	-0.9950	10	0.25751	T	0.34	-23.0837	17.8731	0.88816	0.0:0.0:1.0:0.0	.	349	P28838	AMPL_HUMAN	I	349	ENSP00000226299:V349I	ENSP00000226299:V349I	V	+	1	0	LAP3	17207823	1.000000	0.71417	0.956000	0.39512	0.951000	0.60555	9.405000	0.97313	2.370000	0.80446	0.655000	0.94253	GTT		0.502	LAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250365.1			7	65	0	0	0	1	0	7	65				
FAM114A2	10827	broad.mit.edu	37	5	153382442	153382442	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr5:153382442C>G	ENST00000351797.4	-	10	1157	c.1081G>C	c.(1081-1083)Gaa>Caa	p.E361Q	FAM114A2_ENST00000520667.1_Missense_Mutation_p.E361Q|FAM114A2_ENST00000520313.1_Missense_Mutation_p.E291Q|FAM114A2_ENST00000522858.1_Missense_Mutation_p.E361Q	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	361							purine nucleotide binding (GO:0017076)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						TCAGTATTTTCTGCTTCCGAC	0.383																																						ENST00000351797.4																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						c.(1081-1083)Gaa>Caa		family with sequence similarity 114, member A2							253.0	243.0	246.0					5																	153382442		2203	4300	6503	SO:0001583	missense	10827						purine nucleotide binding	g.chr5:153382442C>G	AF159700	CCDS4323.1	5q31-q33	2008-06-13	2008-06-13	2008-06-13	ENSG00000055147	ENSG00000055147			1333	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 3"""	C5orf3		10843801	Standard	XM_005268359		Approved	133K02	uc003lvc.3	Q9NRY5	OTTHUMG00000130147	ENST00000351797.4:c.1081G>C	5.37:g.153382442C>G	ENSP00000341597:p.Glu361Gln					FAM114A2_ENST00000520313.1_Missense_Mutation_p.E291Q|FAM114A2_ENST00000522858.1_Missense_Mutation_p.E361Q|FAM114A2_ENST00000520667.1_Missense_Mutation_p.E361Q	p.E361Q	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN			10	1157	-			361					B2R8D8|Q9H7E0	Missense_Mutation	SNP	ENST00000351797.4	37	c.1081G>C	CCDS4323.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.379047	0.24944	.	.	ENSG00000055147	ENST00000351797;ENST00000522858;ENST00000520667;ENST00000520313	T;T;T;T	0.19394	2.38;2.38;2.38;2.15	5.03	4.13	0.48395	.	0.710225	0.14145	N	0.338433	T	0.21590	0.0520	L	0.60455	1.87	0.09310	N	1	P;P	0.39717	0.561;0.684	B;B	0.36289	0.116;0.221	T	0.06625	-1.0816	10	0.27082	T	0.32	-0.7961	12.504	0.55972	0.0:0.8312:0.1688:0.0	.	291;361	E7ESJ7;Q9NRY5	.;F1142_HUMAN	Q	361;361;361;291	ENSP00000341597:E361Q;ENSP00000430489:E361Q;ENSP00000430384:E361Q;ENSP00000429088:E291Q	ENSP00000341597:E361Q	E	-	1	0	FAM114A2	153362635	0.020000	0.18652	0.020000	0.16555	0.677000	0.39632	1.465000	0.35299	1.079000	0.41038	0.555000	0.69702	GAA		0.383	FAM114A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252455.1	NM_018691		22	92	0	0	0	1	0	22	92				
FSIP2	401024	broad.mit.edu	37	2	186672165	186672165	+	Silent	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr2:186672165G>T	ENST00000424728.1	+	17	18132	c.18132G>T	c.(18130-18132)ctG>ctT	p.L6044L	FSIP2_ENST00000343098.5_Silent_p.L6133L			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6044										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CCACAGAACTGAATTTCCTTC	0.338																																						ENST00000343098.5																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						c.(18397-18399)ctG>ctT		fibrous sheath interacting protein 2							113.0	112.0	112.0					2																	186672165		1815	4066	5881	SO:0001819	synonymous_variant	401024							g.chr2:186672165G>T	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.18132G>T	2.37:g.186672165G>T						FSIP2_ENST00000424728.1_Silent_p.L6044L	p.L6133L	NM_173651.2	NP_775922.2					17	18399	+								Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Silent	SNP	ENST00000424728.1	37	c.18399G>T																																																																																					0.338	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		11	52	1	0	1.5842e-08	1	1.70474e-08	11	52				
PCDHA6	56142	broad.mit.edu	37	5	140209569	140209569	+	Silent	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr5:140209569C>A	ENST00000529310.1	+	1	2007	c.1893C>A	c.(1891-1893)atC>atA	p.I631I	PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	631	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCGAGATCAGCACCACTC	0.672																																						ENST00000529310.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(1891-1893)atC>atA									70.0	77.0	74.0					5																	140209569		2203	4300	6503	SO:0001819	synonymous_variant	56142							g.chr5:140209569C>A	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1893C>A	5.37:g.140209569C>A						PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	p.I631I	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2007	+								O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.1893C>A	CCDS47281.1																																																																																				0.672	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		18	103	1	0	1.56452e-12	1	1.77353e-12	18	103				
C14orf79	122616	broad.mit.edu	37	14	105452973	105452973	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr14:105452973C>G	ENST00000547315.1	+	1	844	c.205C>G	c.(205-207)Cct>Gct	p.P69A	C14orf79_ENST00000550614.1_5'Flank	NM_174891.3	NP_777551.2	Q96F83	CN079_HUMAN	chromosome 14 open reading frame 79	69										breast(1)|endometrium(1)|lung(1)	3		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)			TGCCCGATGTCCTGACCCTGG	0.582																																						ENST00000547315.1																			0				breast(1)|endometrium(1)|lung(1)	3						c.(205-207)Cct>Gct		chromosome 14 open reading frame 79							60.0	69.0	66.0					14																	105452973		2028	4180	6208	SO:0001583	missense	122616							g.chr14:105452973C>G		CCDS42000.1	14q32.33	2012-09-25			ENSG00000140104	ENSG00000140104			20126	protein-coding gene	gene with protein product							Standard	NM_174891		Approved		uc001ypy.1	Q96F83	OTTHUMG00000170474	ENST00000547315.1:c.205C>G	14.37:g.105452973C>G	ENSP00000450114:p.Pro69Ala						p.P69A	NM_174891.3	NP_777551.2	Q96F83	CN079_HUMAN	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)		1	844	+		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	69					B2RPK9|Q9BTP4	Missense_Mutation	SNP	ENST00000547315.1	37	c.205C>G	CCDS42000.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.539154	0.27475	.	.	ENSG00000140104	ENST00000547315	.	.	.	3.34	1.32	0.21799	.	.	.	.	.	T	0.35653	0.0939	M	0.63428	1.95	0.09310	N	0.999996	B	0.31459	0.324	B	0.25987	0.065	T	0.29912	-0.9996	8	0.87932	D	0	1.1973	5.8563	0.18722	0.2212:0.5637:0.215:0.0	.	69	Q96F83	CN079_HUMAN	A	69	.	ENSP00000374614:P69A	P	+	1	0	C14orf79	104524018	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	0.132000	0.15891	0.042000	0.15717	0.306000	0.20318	CCT		0.582	C14orf79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409318.1	NM_174891		19	49	0	0	0	1	0	19	49				
RNF123	63891	broad.mit.edu	37	3	49736230	49736230	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr3:49736230G>C	ENST00000327697.6	+	9	757	c.613G>C	c.(613-615)Gat>Cat	p.D205H	RNF123_ENST00000432042.1_Missense_Mutation_p.D59H	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	205	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GATTGACCTGGATGATGGCAC	0.622																																						ENST00000327697.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(613-615)Gat>Cat		ring finger protein 123							91.0	76.0	81.0					3																	49736230		2203	4300	6503	SO:0001583	missense	63891					cytoplasm	ligase activity|protein binding|zinc ion binding	g.chr3:49736230G>C	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.613G>C	3.37:g.49736230G>C	ENSP00000328287:p.Asp205His					RNF123_ENST00000432042.1_Missense_Mutation_p.D59H	p.D205H	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)	9	757	+			205			B30.2/SPRY.		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	c.613G>C	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743728	0.69418	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000432042	T;T	0.64260	-0.09;-0.09	5.04	5.04	0.67666	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.255416	0.37219	N	0.002192	T	0.76622	0.4013	M	0.79258	2.445	0.80722	D	1	D	0.61080	0.989	P	0.58780	0.845	T	0.79022	-0.1973	10	0.52906	T	0.07	-21.1678	17.3028	0.87187	0.0:0.0:1.0:0.0	.	205	Q5XPI4	RN123_HUMAN	H	205;205;59	ENSP00000328287:D205H;ENSP00000392443:D59H	ENSP00000328287:D205H	D	+	1	0	RNF123	49711234	1.000000	0.71417	0.995000	0.50966	0.917000	0.54804	7.333000	0.79214	2.504000	0.84457	0.561000	0.74099	GAT		0.622	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		6	33	0	0	0	1	0	6	33				
OR4Q3	441669	broad.mit.edu	37	14	20216398	20216398	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr14:20216398T>C	ENST00000331723.1	+	1	812	c.812T>C	c.(811-813)aTa>aCa	p.I271T		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTGGATAAGATATTCTCCTTG	0.433																																						ENST00000331723.1																			0				NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47						c.(811-813)aTa>aCa		olfactory receptor, family 4, subfamily Q, member 3							156.0	159.0	158.0					14																	20216398		2203	4300	6503	SO:0001583	missense	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20216398T>C	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.812T>C	14.37:g.20216398T>C	ENSP00000330049:p.Ile271Thr						p.I271T	NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	812	+	all_cancers(95;0.00108)		271					Q6IEX4	Missense_Mutation	SNP	ENST00000331723.1	37	c.812T>C	CCDS32020.1	.	.	.	.	.	.	.	.	.	.	.	7.161	0.585760	0.13749	.	.	ENSG00000182652	ENST00000331723	T	0.00158	8.65	4.35	4.35	0.52113	GPCR, rhodopsin-like superfamily (1);	0.431719	0.16467	U	0.213132	T	0.00144	0.0004	L	0.35723	1.085	0.09310	N	1	B	0.16802	0.019	B	0.16722	0.016	T	0.13737	-1.0498	10	0.20046	T	0.44	.	11.5383	0.50651	0.0:0.0:0.0:1.0	.	271	Q8NH05	OR4Q3_HUMAN	T	271	ENSP00000330049:I271T	ENSP00000330049:I271T	I	+	2	0	OR4Q3	19286238	0.000000	0.05858	0.245000	0.24217	0.629000	0.37895	0.913000	0.28611	1.827000	0.53221	0.411000	0.27672	ATA		0.433	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			14	49	0	0	0	1	0	14	49				
MEGF10	84466	broad.mit.edu	37	5	126754881	126754881	+	Missense_Mutation	SNP	A	A	G	rs79671291		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr5:126754881A>G	ENST00000274473.6	+	12	1642	c.1375A>G	c.(1375-1377)Aaa>Gaa	p.K459E	MEGF10_ENST00000418761.2_Missense_Mutation_p.K459E|MEGF10_ENST00000503335.2_Missense_Mutation_p.K459E|MEGF10_ENST00000508365.1_Missense_Mutation_p.K459E	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	459	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CTGTGGCTGTAAAAATGATGC	0.463																																						ENST00000274473.6																			0				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(1375-1377)Aaa>Gaa		multiple EGF-like-domains 10							255.0	237.0	243.0					5																	126754881		2203	4300	6503	SO:0001583	missense	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126754881A>G	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.1375A>G	5.37:g.126754881A>G	ENSP00000274473:p.Lys459Glu					MEGF10_ENST00000503335.2_Missense_Mutation_p.K459E|MEGF10_ENST00000508365.1_Missense_Mutation_p.K459E|MEGF10_ENST00000418761.2_Missense_Mutation_p.K459E	p.K459E	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	12	1642	+		Prostate(80;0.165)	459			EGF-like 8.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.		Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	c.1375A>G	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	A	12.18	1.861416	0.32884	.	.	ENSG00000145794	ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	5.58	4.42	0.53409	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.063428	0.64402	D	0.000013	T	0.61211	0.2329	N	0.20807	0.61	0.53005	D	0.999963	B;B	0.28208	0.203;0.038	B;B	0.29077	0.098;0.044	T	0.54282	-0.8317	10	0.07325	T	0.83	-5.9788	12.7555	0.57333	0.8513:0.1487:0.0:0.0	.	459;459	Q96KG7-2;Q96KG7	.;MEG10_HUMAN	E	459	ENSP00000423354:K459E;ENSP00000423195:K459E;ENSP00000416284:K459E;ENSP00000274473:K459E	ENSP00000274473:K459E	K	+	1	0	MEGF10	126782780	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.020000	0.57189	1.039000	0.40074	0.533000	0.62120	AAA		0.463	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		23	77	0	0	0	1	0	23	77				
SMAD4	4089	broad.mit.edu	37	18	48603047	48603047	+	Nonsense_Mutation	SNP	C	C	T	rs377767362		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr18:48603047C>T	ENST00000342988.3	+	11	1886	c.1348C>T	c.(1348-1350)Cag>Tag	p.Q450*	SMAD4_ENST00000588745.1_Nonsense_Mutation_p.Q354*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.Q450*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	450	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.Q448fs*20(2)|p.?(2)|p.R441fs*16(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GATGCAGCAGCAGGCGGCTAC	0.468																																						ENST00000342988.3																			41	Whole gene deletion(36)|Deletion - Frameshift(3)|Unknown(2)	p.0?(36)|p.Q448fs*20(2)|p.?(2)|p.R441fs*16(1)	pancreas(27)|large_intestine(5)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(1348-1350)Cag>Tag		SMAD family member 4							42.0	43.0	43.0					18																	48603047		2203	4300	6503	SO:0001587	stop_gained	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48603047C>T	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1348C>T	18.37:g.48603047C>T	ENSP00000341551:p.Gln450*					SMAD4_ENST00000588745.1_Nonsense_Mutation_p.Q354*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.Q450*	p.Q450*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	11	1886	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	450			MH2.		A8K405	Nonsense_Mutation	SNP	ENST00000342988.3	37	c.1348C>T	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	C	43	9.948566	0.99302	.	.	ENSG00000141646	ENST00000342988;ENST00000398417	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.3283	0.94273	0.0:1.0:0.0:0.0	.	.	.	.	X	450	.	ENSP00000341551:Q450X	Q	+	1	0	SMAD4	46857045	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.665000	0.83852	2.861000	0.98227	0.655000	0.94253	CAG		0.468	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		13	25	0	0	0	1	0	13	25				
RSPRY1	89970	broad.mit.edu	37	16	57241994	57241994	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr16:57241994G>T	ENST00000537866.1	+	3	1248	c.375G>T	c.(373-375)atG>atT	p.M125I	RSPRY1_ENST00000394420.4_Missense_Mutation_p.M125I			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	125						extracellular region (GO:0005576)	zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						CCTATTCAATGATAACATTAC	0.294																																						ENST00000537866.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						c.(373-375)atG>atT		ring finger and SPRY domain containing 1							121.0	131.0	127.0					16																	57241994		2198	4299	6497	SO:0001583	missense	89970					extracellular region	zinc ion binding	g.chr16:57241994G>T	AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"""RING-type (C3HC4) zinc fingers"""	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.375G>T	16.37:g.57241994G>T	ENSP00000443176:p.Met125Ile					RSPRY1_ENST00000394420.4_Missense_Mutation_p.M125I	p.M125I			Q96DX4	RSPRY_HUMAN			3	1248	+			125					Q6UX21|Q8ND53	Missense_Mutation	SNP	ENST00000537866.1	37	c.375G>T	CCDS10775.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.841194	0.91197	.	.	ENSG00000159579	ENST00000394420;ENST00000537866	D;D	0.87334	-2.24;-2.24	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.87565	0.6209	M	0.72118	2.19	0.80722	D	1	P	0.46142	0.873	B	0.39904	0.313	D	0.89333	0.3648	10	0.72032	D	0.01	.	19.7815	0.96417	0.0:0.0:1.0:0.0	.	125	Q96DX4	RSPRY_HUMAN	I	125	ENSP00000377942:M125I;ENSP00000443176:M125I	ENSP00000377942:M125I	M	+	3	0	RSPRY1	55799495	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.326000	0.96389	2.746000	0.94184	0.655000	0.94253	ATG		0.294	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432953.1	NM_133368		11	66	1	0	4.36969e-10	1	4.84253e-10	11	66				
TARBP1	6894	broad.mit.edu	37	1	234556462	234556462	+	Missense_Mutation	SNP	G	G	C	rs147943473		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:234556462G>C	ENST00000040877.1	-	21	3540	c.3541C>G	c.(3541-3543)Cct>Gct	p.P1181A		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1181					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TCAAGTCTAGGGAAAAGTACC	0.358													G|||	1	0.000199681	0.0	0.0	5008	,	,		15881	0.0		0.0	False		,,,				2504	0.001					ENST00000040877.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55						c.(3541-3543)Cct>Gct		TAR (HIV-1) RNA binding protein 1		G	ALA/PRO	0,4406		0,0,2203	105.0	112.0	110.0		3541	4.8	1.0	1	dbSNP_134	110	7,8593	5.7+/-21.5	0,7,4293	yes	missense	TARBP1	NM_005646.3	27	0,7,6496	CC,CG,GG		0.0814,0.0,0.0538	possibly-damaging	1181/1622	234556462	7,12999	2203	4300	6503	SO:0001583	missense	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234556462G>C		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.3541C>G	1.37:g.234556462G>C	ENSP00000040877:p.Pro1181Ala						p.P1181A	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		21	3540	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	1181					Q9H581	Missense_Mutation	SNP	ENST00000040877.1	37	c.3541C>G	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231680	0.58777	0.0	8.14E-4	ENSG00000059588	ENST00000040877	T	0.30714	1.52	5.74	4.82	0.62117	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.50956	0.1646	M	0.66939	2.045	0.51012	D	0.999905	D	0.67145	0.996	P	0.60609	0.877	T	0.56220	-0.8015	10	0.72032	D	0.01	-3.8803	15.7454	0.77936	0.0:0.0:0.8621:0.1379	.	1181	Q13395	TARB1_HUMAN	A	1181	ENSP00000040877:P1181A	ENSP00000040877:P1181A	P	-	1	0	TARBP1	232623085	1.000000	0.71417	0.979000	0.43373	0.669000	0.39330	8.451000	0.90343	1.407000	0.46875	-0.188000	0.12872	CCT		0.358	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		4	44	0	0	0	1	0	4	44				
TCTE3	6991	broad.mit.edu	37	6	170143280	170143280	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:170143280C>T	ENST00000366774.3	-	3	482	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K		NM_174910.1	NP_777570.1	Q8IZS6	TC1D3_HUMAN	t-complex-associated-testis-expressed 3	128					transport (GO:0006810)	cytoplasm (GO:0005737)|dynein complex (GO:0030286)|membrane (GO:0016020)|microtubule (GO:0005874)	motor activity (GO:0003774)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|prostate(1)	4		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;1.08e-21)|BRCA - Breast invasive adenocarcinoma(81;1.32e-07)|GBM - Glioblastoma multiforme(31;0.00157)		TCTGCCAATTCAAGTGACAAG	0.294																																						ENST00000366774.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|prostate(1)	4						c.(382-384)Gaa>Aaa		t-complex-associated-testis-expressed 3							78.0	83.0	81.0					6																	170143280		2203	4299	6502	SO:0001583	missense	6991				transport	cytoplasm|dynein complex|membrane|microtubule	motor activity	g.chr6:170143280C>T	AF519569	CCDS5310.1	6q27	2014-06-03			ENSG00000184786	ENSG00000184786			11695	protein-coding gene	gene with protein product	"""Tctex1 domain containing 3"""	186977				1505969, 12584439	Standard	NM_174910		Approved	TCTEX1D3	uc003qxe.1	Q8IZS6	OTTHUMG00000016068	ENST00000366774.3:c.382G>A	6.37:g.170143280C>T	ENSP00000355736:p.Glu128Lys						p.E128K	NM_174910.1	NP_777570.1	Q8IZS6	TC1D3_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.08e-21)|BRCA - Breast invasive adenocarcinoma(81;1.32e-07)|GBM - Glioblastoma multiforme(31;0.00157)	3	482	-		Breast(66;0.000338)	128						Missense_Mutation	SNP	ENST00000366774.3	37	c.382G>A	CCDS5310.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.747125	0.30955	.	.	ENSG00000184786	ENST00000366774	T	0.30448	1.53	5.37	3.42	0.39159	.	0.355474	0.27437	N	0.019378	T	0.12987	0.0315	L	0.39245	1.2	0.34569	D	0.713256	B	0.22983	0.078	B	0.25614	0.062	T	0.06180	-1.0841	10	0.35671	T	0.21	-20.4693	12.995	0.58642	0.0:0.69:0.3099:0.0	.	128	Q8IZS6	TC1D3_HUMAN	K	128	ENSP00000355736:E128K	ENSP00000355736:E128K	E	-	1	0	TCTE3	169885205	0.622000	0.27085	1.000000	0.80357	0.235000	0.25334	0.821000	0.27338	1.362000	0.46000	0.655000	0.94253	GAA		0.294	TCTE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043243.1	NM_174910		7	40	0	0	0	1	0	7	40				
ULK1	8408	broad.mit.edu	37	12	132399963	132399963	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr12:132399963C>G	ENST00000321867.4	+	18	1957	c.1606C>G	c.(1606-1608)Cca>Gca	p.P536A	ULK1_ENST00000540647.1_5'Flank	NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	536					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		GTCCCCTCGTCCAGGTGGGTG	0.632																																						ENST00000321867.4																			0				breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29						c.(1606-1608)Cca>Gca		unc-51 like autophagy activating kinase 1							23.0	28.0	26.0					12																	132399963		2199	4294	6493	SO:0001583	missense	8408				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity	g.chr12:132399963C>G	AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"""ATG1 autophagy related 1 homolog (S. cerevisiae)"""	603168	"""unc-51 (C. elegans)-like kinase 1"", ""unc-51-like kinase 1 (C. elegans)"""			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.1606C>G	12.37:g.132399963C>G	ENSP00000324560:p.Pro536Ala						p.P536A	NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)	18	1957	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		536					Q9UQ28	Missense_Mutation	SNP	ENST00000321867.4	37	c.1606C>G	CCDS9274.1	.	.	.	.	.	.	.	.	.	.	C	7.565	0.665577	0.14710	.	.	ENSG00000177169	ENST00000321867	T	0.68331	-0.32	4.64	1.52	0.23074	.	0.726153	0.12030	N	0.506017	T	0.54902	0.1887	L	0.43701	1.375	0.49130	D	0.99975	B	0.06786	0.001	B	0.06405	0.002	T	0.38499	-0.9658	10	0.11182	T	0.66	-1.8524	12.3079	0.54912	0.0:0.4911:0.5089:0.0	.	536	O75385	ULK1_HUMAN	A	536	ENSP00000324560:P536A	ENSP00000324560:P536A	P	+	1	0	ULK1	130965916	0.152000	0.22762	0.573000	0.28510	0.258000	0.26162	0.489000	0.22387	0.079000	0.16929	-0.502000	0.04539	CCA		0.632	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397769.3			12	22	0	0	0	1	0	12	22				
PCDHA1	56147	broad.mit.edu	37	5	140167367	140167367	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr5:140167367C>T	ENST00000504120.2	+	1	1492	c.1492C>T	c.(1492-1494)Cgg>Tgg	p.R498W	PCDHA1_ENST00000378133.3_Missense_Mutation_p.R498W|PCDHA1_ENST00000394633.3_Missense_Mutation_p.R498W	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	498	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R498W(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGAACGGCGGGTGGGCGA	0.672																																						ENST00000504120.2																			2	Substitution - Missense(2)	p.R498W(2)	lung(2)	breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(1492-1494)Cgg>Tgg									61.0	66.0	64.0					5																	140167367		2203	4299	6502	SO:0001583	missense	56147							g.chr5:140167367C>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1492C>T	5.37:g.140167367C>T	ENSP00000420840:p.Arg498Trp					PCDHA1_ENST00000378133.3_Missense_Mutation_p.R498W|PCDHA1_ENST00000394633.3_Missense_Mutation_p.R498W	p.R498W	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1492	+								O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.1492C>T	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	c	11.23	1.576954	0.28092	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.52526	0.66;0.66;0.66	3.63	1.71	0.24356	Cadherin (4);Cadherin-like (1);	0.211342	0.23204	U	0.050746	T	0.27524	0.0676	L	0.41236	1.265	0.09310	N	1	P;B;P	0.41748	0.639;0.26;0.761	B;B;B	0.29663	0.081;0.019;0.105	T	0.23547	-1.0185	10	0.62326	D	0.03	.	3.966	0.09431	0.3402:0.4751:0.0:0.1846	.	498;498;498	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	W	498	ENSP00000420840:R498W;ENSP00000378129:R498W;ENSP00000367373:R498W	ENSP00000367373:R498W	R	+	1	2	PCDHA1	140147551	0.007000	0.16637	0.993000	0.49108	0.653000	0.38743	-1.178000	0.03093	0.146000	0.19002	-0.233000	0.12211	CGG		0.672	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		36	95	0	0	0	1	0	36	95				
ID2	3398	broad.mit.edu	37	2	8822472	8822472	+	Silent	SNP	G	G	A	rs149826728	byFrequency	TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr2:8822472G>A	ENST00000234091.4	+	3	1037	c.177G>A	c.(175-177)gtG>gtA	p.V59V	AC011747.7_ENST00000455965.1_RNA|ID2_ENST00000396290.1_Silent_p.V59V|ID2_ENST00000331129.3_Silent_p.V59V			Q02363	ID2_HUMAN	inhibitor of DNA binding 2, dominant negative helix-loop-helix protein	59	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				adipose tissue development (GO:0060612)|bundle of His development (GO:0003166)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|embryonic digestive tract morphogenesis (GO:0048557)|endodermal digestive tract morphogenesis (GO:0061031)|entrainment of circadian clock by photoperiod (GO:0043153)|enucleate erythrocyte differentiation (GO:0043353)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|locomotor rhythm (GO:0045475)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|membranous septum morphogenesis (GO:0003149)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|natural killer cell differentiation (GO:0001779)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of DNA binding (GO:0043392)|negative regulation of gene expression (GO:0010629)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate commitment (GO:0048663)|olfactory bulb development (GO:0021772)|oligodendrocyte development (GO:0014003)|Peyer's patch development (GO:0048541)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of blood pressure (GO:0045777)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of lipid metabolic process (GO:0019216)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|protein complex (GO:0043234)	ion channel binding (GO:0044325)			breast(1)|large_intestine(1)|lung(1)|prostate(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACAAGAAGGTGAGCAAGATGG	0.547													G|||	4	0.000798722	0.0008	0.0014	5008	,	,		20864	0.001		0.0	False		,,,				2504	0.001					ENST00000234091.4																			0				breast(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(175-177)gtG>gtA		inhibitor of DNA binding 2, dominant negative helix-loop-helix protein		G		2,4404	4.2+/-10.8	0,2,2201	80.0	76.0	77.0		177	3.6	1.0	2	dbSNP_134	77	0,8600		0,0,4300	no	coding-synonymous	ID2	NM_002166.4		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		59/135	8822472	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3398				cellular senescence|embryonic digestive tract morphogenesis|endodermal digestive tract morphogenesis|epithelial cell differentiation involved in mammary gland alveolus development|mammary gland epithelial cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of neuron differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|neuron fate commitment|positive regulation of blood pressure|positive regulation of cell cycle arrest|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent	protein complex	protein binding	g.chr2:8822472G>A		CCDS1659.1	2p25	2013-05-21			ENSG00000115738	ENSG00000115738		"""Basic helix-loop-helix proteins"""	5361	protein-coding gene	gene with protein product	"""cell growth-inhibiting gene 8"""	600386				8294468	Standard	NM_002166		Approved	GIG8, bHLHb26	uc002qza.3	Q02363	OTTHUMG00000112454	ENST00000234091.4:c.177G>A	2.37:g.8822472G>A						ID2_ENST00000396290.1_Silent_p.V59V|ID2_ENST00000331129.3_Silent_p.V59V	p.V59V			Q02363	ID2_HUMAN			3	1037	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		59			Helix-loop-helix motif.			Silent	SNP	ENST00000234091.4	37	c.177G>A	CCDS1659.1																																																																																				0.547	ID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000231925.2	NM_002166		21	57	0	0	0	1	0	21	57				
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr17:7578394T>C	ENST00000269305.4	-	5	725	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000420246.2_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR	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	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; 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.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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)	GCAGCGCTCATGGTGGGGGCA	0.642		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"""		217	Substitution - Missense(166)|Deletion - In frame(24)|Deletion - Frameshift(18)|Whole gene deletion(8)|Complex - deletion inframe(1)	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)	lung(35)|breast(32)|large_intestine(29)|upper_aerodigestive_tract(26)|oesophagus(21)|ovary(21)|central_nervous_system(16)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(6)|pancreas(6)|liver(5)|bone(4)|biliary_tract(3)|cervix(1)|stomach(1)|endometrium(1)|salivary_gland(1)|skin(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.(535-537)cAt>cGt	Other conserved DNA damage response genes	tumor protein p53							47.0	47.0	47.0					17																	7578394		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.chr17:7578394T>C	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.536A>G	17.37:g.7578394T>C	ENSP00000269305:p.His179Arg	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_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000269305.4_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR	p.H179R	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)	5	668	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	179		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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.536A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.694391	0.88830	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99917	0.9961	M	0.92507	3.315	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.989;1.0;0.985;1.0;0.995;1.0;0.996	D;D;D;D;D;D;D	0.97110	0.929;0.996;0.912;1.0;0.985;0.995;0.937	D	0.95874	0.8893	10	0.87932	D	0	-15.4889	13.8032	0.63214	0.0:0.0:0.0:1.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179R;ENSP00000352610:H179R;ENSP00000269305:H179R;ENSP00000398846:H179R;ENSP00000391127:H179R;ENSP00000391478:H179R;ENSP00000425104:H47R;ENSP00000423862:H86R	ENSP00000269305:H179R	H	-	2	0	TP53	7519119	1.000000	0.71417	0.945000	0.38365	0.856000	0.48823	6.263000	0.72521	2.208000	0.71279	0.460000	0.39030	CAT		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		19	40	0	0	0	1	0	19	40				
NFYC	4802	broad.mit.edu	37	1	41213250	41213250	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:41213250G>A	ENST00000308733.5	+	2	156	c.150G>A	c.(148-150)aaG>aaA	p.K50K	NFYC_ENST00000447388.3_Silent_p.K50K|NFYC_ENST00000425457.2_Silent_p.K50K|NFYC_ENST00000440226.3_Silent_p.K50K|NFYC_ENST00000372652.1_Silent_p.K50K|NFYC_ENST00000427410.2_Silent_p.K50K|NFYC_ENST00000372651.1_Silent_p.K50K|NFYC_ENST00000456393.2_Silent_p.K50K|NFYC_ENST00000372654.1_Silent_p.K50K|NFYC_ENST00000372653.1_Silent_p.K50K			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	50					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			GTATTAAGAAGATTATGAAAC	0.378																																						ENST00000372652.1																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15						c.(148-150)aaG>aaA		nuclear transcription factor Y, gamma							95.0	88.0	90.0					1																	41213250		2203	4300	6503	SO:0001819	synonymous_variant	4802				protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:41213250G>A	U78774	CCDS455.1, CCDS44120.1, CCDS44121.1, CCDS44122.1, CCDS44123.1	1p32	2008-11-11			ENSG00000066136	ENSG00000066136			7806	protein-coding gene	gene with protein product		605344				8921405, 9249075	Standard	NM_014223		Approved	CBF-C, NF-YC	uc009vwd.3	Q13952	OTTHUMG00000007729	ENST00000308733.5:c.150G>A	1.37:g.41213250G>A						NFYC_ENST00000440226.3_Silent_p.K50K|NFYC_ENST00000447388.3_Silent_p.K50K|NFYC_ENST00000427410.2_Silent_p.K50K|NFYC_ENST00000372653.1_Silent_p.K50K|NFYC_ENST00000425457.2_Silent_p.K50K|NFYC_ENST00000372654.1_Silent_p.K50K|NFYC_ENST00000308733.5_Silent_p.K50K|NFYC_ENST00000372651.1_Silent_p.K50K|NFYC_ENST00000456393.2_Silent_p.K50K	p.K50K			Q13952	NFYC_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)		3	418	+	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	50					B4DUS6|B4DW63|D3DPV9|F8VWM3|Q59GY4|Q5T6K8|Q5T6K9|Q5T6L1|Q5TZR6|Q92869|Q9HBX1|Q9NXB5|Q9UM67|Q9UML0|Q9UMT7	Silent	SNP	ENST00000308733.5	37	c.150G>A																																																																																					0.378	NFYC-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000020802.1	NM_014223		5	19	0	0	0	1	0	5	19				
OCA2	4948	broad.mit.edu	37	15	28234814	28234814	+	Splice_Site	SNP	T	T	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr15:28234814T>A	ENST00000354638.3	-	11	1272		c.e11-2		OCA2_ENST00000353809.5_Splice_Site|OCA2_ENST00000382996.2_Splice_Site	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II						cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GCTGGGTCTCTGCAATCAAAG	0.572									Oculocutaneous Albinism																													ENST00000354638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.e11-2		oculocutaneous albinism II							119.0	97.0	104.0					15																	28234814		2203	4300	6503	SO:0001630	splice_region_variant	4948	Oculocutaneous Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28234814T>A		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1117-2A>T	15.37:g.28234814T>A						OCA2_ENST00000353809.5_Splice_Site|OCA2_ENST00000382996.2_Splice_Site		NM_000275.2	NP_000266.2	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	11	1272	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)						Q15211|Q15212|Q96EN1|Q9UMI5	Splice_Site	SNP	ENST00000354638.3	37		CCDS10020.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.514584	0.85389	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.037	0.64651	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	OCA2	25908409	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.070000	0.76763	2.085000	0.62840	0.533000	0.62120	.		0.572	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275	Intron	7	30	0	0	0	1	0	7	30				
PAGR1	79447	broad.mit.edu	37	16	29827930	29827930	+	Silent	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr16:29827930C>G	ENST00000320330.6	+	1	646	c.84C>G	c.(82-84)ctC>ctG	p.L28L	AC009133.12_ENST00000564980.1_RNA|AC009133.12_ENST00000569809.1_RNA|AC009133.20_ENST00000569039.1_RNA|PAGR1_ENST00000609618.1_Silent_p.L28L			Q9BTK6	PAGR1_HUMAN	PAXIP1 associated glutamate-rich protein 1	28						histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)											CCTCCGGCCTCCAGGCTCTGG	0.687											OREG0023722	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000320330.6																			0											c.(82-84)ctC>ctG		PAXIP1 associated glutamate-rich protein 1							8.0	10.0	9.0					16																	29827930		2176	4274	6450	SO:0001819	synonymous_variant	79447							g.chr16:29827930C>G	BC003640	CCDS10655.1	16p11.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000185928	ENSG00000185928			28707	protein-coding gene	gene with protein product	"""glutamate-rich coactivator interacting with SRC1/NCOA1"", ""PTIP-associated 1 protein"", ""glutamate-rich coactivator associated with SRC1"""	612033	"""chromosome 16 open reading frame 53"""	C16orf53		17500065, 19039327	Standard	NM_024516		Approved	MGC4606, GAS, PA1	uc002dug.4	Q9BTK6	OTTHUMG00000132117	ENST00000320330.6:c.84C>G	16.37:g.29827930C>G			OREG0023722	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	812	AC009133.20_ENST00000569039.1_RNA	p.L28L	NM_024516.3	NP_078792.1					1	646	+								A2ICR6	Silent	SNP	ENST00000320330.6	37	c.84C>G	CCDS10655.1																																																																																				0.687	PAGR1-002	PUTATIVE	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000473165.1	NM_024516		7	9	0	0	0	1	0	7	9				
SEMA4C	54910	broad.mit.edu	37	2	97527623	97527623	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr2:97527623G>A	ENST00000305476.5	-	13	1584	c.1452C>T	c.(1450-1452)ctC>ctT	p.L484L		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	484	Dominant negative effect on myogenic differentiation. {ECO:0000250}.|Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell migration in hindbrain (GO:0021535)|cerebellum development (GO:0021549)|muscle cell differentiation (GO:0042692)|neural tube closure (GO:0001843)|positive regulation of stress-activated MAPK cascade (GO:0032874)|semaphorin-plexin signaling pathway (GO:0071526)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle membrane (GO:0030672)	receptor activity (GO:0004872)			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						AGCCGGCAAAGAGCAGCTTCT	0.682																																						ENST00000305476.5																			0				NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						c.(1450-1452)ctC>ctT		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C							10.0	10.0	10.0					2																	97527623		2170	4262	6432	SO:0001819	synonymous_variant	54910				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity	g.chr2:97527623G>A	AB051526	CCDS2029.1	2q11.2	2013-01-11			ENSG00000168758	ENSG00000168758		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10731	protein-coding gene	gene with protein product	"""M-Sema F"""	604462		SEMAI		7656991	Standard	NM_017789		Approved	Semacl1, Semaf	uc002sxh.4	Q9C0C4	OTTHUMG00000130535	ENST00000305476.5:c.1452C>T	2.37:g.97527623G>A							p.L484L	NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN			13	1584	-			484			Dominant negative effect on myogenic differentiation (By similarity).|Sema.		Q32MJ3|Q7Z5X0	Silent	SNP	ENST00000305476.5	37	c.1452C>T	CCDS2029.1																																																																																				0.682	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252957.1	NM_017789		4	17	0	0	0	1	0	4	17				
DNAJC4	3338	broad.mit.edu	37	11	64001429	64001429	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr11:64001429C>A	ENST00000321685.3	+	6	1056	c.591C>A	c.(589-591)taC>taA	p.Y197*	VEGFB_ENST00000309422.2_5'Flank|RP11-783K16.14_ENST00000539963.1_RNA|VEGFB_ENST00000426086.2_5'Flank|DNAJC4_ENST00000321460.5_Nonsense_Mutation_p.Y198*|RP11-783K16.14_ENST00000534988.1_RNA|DNAJC4_ENST00000355040.4_3'UTR	NM_005528.3	NP_005519.2	Q9NNZ3	DNJC4_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 4	197					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	unfolded protein binding (GO:0051082)			endometrium(1)|lung(1)|prostate(1)	3						CAGCCTTCTACAACGAAGCCC	0.542																																						ENST00000321685.3																			0				endometrium(1)|lung(1)|prostate(1)	3						c.(589-591)taC>taA		DnaJ (Hsp40) homolog, subfamily C, member 4							110.0	120.0	116.0					11																	64001429		1997	4151	6148	SO:0001587	stop_gained	3338				protein folding|response to unfolded protein	integral to membrane|membrane fraction	heat shock protein binding|unfolded protein binding	g.chr11:64001429C>A	AF012106	CCDS41666.1	11q13	2011-09-02			ENSG00000110011	ENSG00000110011		"""Heat shock proteins / DNAJ (HSP40)"""	5271	protein-coding gene	gene with protein product		604189		HSPF2		9473517, 11147971	Standard	NM_005528		Approved	MCG18	uc001nys.3	Q9NNZ3	OTTHUMG00000167792	ENST00000321685.3:c.591C>A	11.37:g.64001429C>A	ENSP00000396896:p.Tyr197*					DNAJC4_ENST00000321460.5_Nonsense_Mutation_p.Y198*|RP11-783K16.14_ENST00000534988.1_RNA|RP11-783K16.14_ENST00000539963.1_RNA|DNAJC4_ENST00000355040.4_3'UTR	p.Y197*	NM_005528.3	NP_005519.2	Q9NNZ3	DNJC4_HUMAN			6	1056	+			197					O14716	Nonsense_Mutation	SNP	ENST00000321685.3	37	c.591C>A	CCDS41666.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	10.91|10.91	1.484098|1.484098	0.26598|0.26598	.|.	.|.	ENSG00000110011|ENSG00000110011	ENST00000535246|ENST00000321685;ENST00000321460	.|.	.|.	.|.	4.37|4.37	3.45|3.45	0.39498|0.39498	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.28267|.	0.0698|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.14587|.	-1.0467|.	4|.	.|0.02654	.|T	.|1	-20.5102|-20.5102	8.1549|8.1549	0.31162|0.31162	0.0:0.8899:0.0:0.1101|0.0:0.8899:0.0:0.1101	.|.	.|.	.|.	.|.	K|X	135|197;198	.|.	.|ENSP00000320548:Y198X	T|Y	+|+	2|3	0|2	DNAJC4|DNAJC4	63758005|63758005	1.000000|1.000000	0.71417|0.71417	0.940000|0.940000	0.37924|0.37924	0.018000|0.018000	0.09664|0.09664	2.671000|2.671000	0.46842|0.46842	1.191000|1.191000	0.43056|0.43056	0.639000|0.639000	0.83563|0.83563	ACA|TAC		0.542	DNAJC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396305.1			8	112	1	0	0.000442599	1	0.000458021	8	112				
ANK2	287	broad.mit.edu	37	4	114274830	114274830	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr4:114274830G>A	ENST00000357077.4	+	38	5109	c.5056G>A	c.(5056-5058)Gag>Aag	p.E1686K	ANK2_ENST00000264366.6_Missense_Mutation_p.E1653K|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1686					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACCCCCAGATGAGACACAGAG	0.443																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(5056-5058)Gag>Aag		ankyrin 2, neuronal							59.0	63.0	61.0					4																	114274830		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114274830G>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.5056G>A	4.37:g.114274830G>A	ENSP00000349588:p.Glu1686Lys					ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.E1653K|ANK2_ENST00000394537.3_Intron	p.E1686K	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	5109	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1653					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.5056G>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	4.812	0.151033	0.09185	.	.	ENSG00000145362	ENST00000503423;ENST00000504454;ENST00000357077;ENST00000264366	T;T;T;T	0.67698	-0.02;-0.16;-0.26;-0.28	5.51	4.66	0.58398	.	0.357482	0.23508	N	0.047431	T	0.55130	0.1901	L	0.50333	1.59	0.18873	N	0.999987	B;B	0.09022	0.001;0.002	B;B	0.09377	0.002;0.004	T	0.39057	-0.9632	10	0.06891	T	0.86	.	12.0502	0.53503	0.0788:0.0:0.9212:0.0	.	1653;1686	Q01484;Q01484-4	ANK2_HUMAN;.	K	1599;1701;1686;1653	ENSP00000421011:E1599K;ENSP00000424722:E1701K;ENSP00000349588:E1686K;ENSP00000264366:E1653K	ENSP00000264366:E1653K	E	+	1	0	ANK2	114494279	1.000000	0.71417	0.040000	0.18447	0.374000	0.29953	4.016000	0.57159	2.581000	0.87130	0.655000	0.94253	GAG		0.443	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		6	45	0	0	0	1	0	6	45				
CORO1B	57175	broad.mit.edu	37	11	67209167	67209167	+	Intron	SNP	T	T	G	rs369518009|rs540646391	byFrequency	TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr11:67209167T>G	ENST00000341356.5	-	4	565				CORO1B_ENST00000393893.1_Intron|CORO1B_ENST00000545016.1_Missense_Mutation_p.H164P|CORO1B_ENST00000453768.2_Intron|CORO1B_ENST00000539724.1_5'Flank	NM_020441.2	NP_065174.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B						actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|endothelial cell chemotaxis (GO:0035767)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|positive regulation of lamellipodium morphogenesis (GO:2000394)|protein localization to cell leading edge (GO:1902463)|ruffle organization (GO:0031529)|wound healing (GO:0042060)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|identical protein binding (GO:0042802)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GAGGGGTCCGTGGGGGGGGGG	0.657																																						ENST00000545016.1																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13						c.(490-492)cAc>cCc		coronin, actin binding protein, 1B							6.0	8.0	7.0					11																	67209167		2028	4045	6073	SO:0001627	intron_variant	57175				actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding	g.chr11:67209167T>G	AK000860	CCDS8164.1	11q13.1	2013-01-10	2001-11-28		ENSG00000172725	ENSG00000172725		"""Coronins"", ""WD repeat domain containing"""	2253	protein-coding gene	gene with protein product		609849	"""coronin, actin-binding protein, 1B"""			9778037	Standard	NM_001018070		Approved	coronin-2	uc001olk.1	Q9BR76	OTTHUMG00000167775	ENST00000341356.5:c.454+36A>C	11.37:g.67209167T>G						CORO1B_ENST00000341356.5_Intron|CORO1B_ENST00000453768.2_Intron|CORO1B_ENST00000393893.1_Intron	p.H164P			Q9BR76	COR1B_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		4	576	-			0					B2RD45	Missense_Mutation	SNP	ENST00000341356.5	37	c.491A>C	CCDS8164.1	.	.	.	.	.	.	.	.	.	.	t	0.003	-2.560575	0.00136	.	.	ENSG00000172725	ENST00000545016	T	0.76968	-1.06	0.266	-0.532	0.11890	.	.	.	.	.	T	0.61689	0.2367	.	.	.	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.46219	-0.9207	7	0.62326	D	0.03	.	.	.	.	.	164	F5H0D2	.	P	164	ENSP00000438056:H164P	ENSP00000438056:H164P	H	-	2	0	CORO1B	66965743	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.844000	0.04345	-1.738000	0.01348	-1.699000	0.00722	CAC		0.657	CORO1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396220.1	NM_020441		4	13	0	0	0	1	0	4	13				
PLPPR4	9890	broad.mit.edu	37	1	99772192	99772192	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:99772192G>A	ENST00000370185.3	+	7	2415	c.1918G>A	c.(1918-1920)Gaa>Aaa	p.E640K	LPPR4_ENST00000457765.1_Missense_Mutation_p.E582K|LPPR4_ENST00000370184.1_Missense_Mutation_p.E482K	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		640					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CCCGTCCACTGAAGGTGAAGG	0.537																																						ENST00000370185.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72						c.(1918-1920)Gaa>Aaa									76.0	75.0	75.0					1																	99772192		2203	4300	6503	SO:0001583	missense	9890						phosphatidate phosphatase activity	g.chr1:99772192G>A																												ENST00000370185.3:c.1918G>A	1.37:g.99772192G>A	ENSP00000359204:p.Glu640Lys					LPPR4_ENST00000457765.1_Missense_Mutation_p.E582K|LPPR4_ENST00000370184.1_Missense_Mutation_p.E482K	p.E640K	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	2415	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	640					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.1918G>A	CCDS757.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.954207	0.73902	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000370184	T;T;T	0.23754	2.46;2.47;1.89	5.9	5.9	0.94986	.	0.206543	0.43919	D	0.000519	T	0.13670	0.0331	N	0.22421	0.69	0.80722	D	1	P;P	0.37500	0.597;0.462	B;B	0.40285	0.325;0.121	T	0.05750	-1.0866	9	.	.	.	-29.4613	20.2822	0.98520	0.0:0.0:1.0:0.0	.	582;640	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	K	640;582;482	ENSP00000359204:E640K;ENSP00000394913:E582K;ENSP00000359203:E482K	.	E	+	1	0	RP4-788L13.1	99544780	1.000000	0.71417	0.991000	0.47740	0.965000	0.64279	6.669000	0.74462	2.806000	0.96561	0.655000	0.94253	GAA		0.537	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			12	32	0	0	0	1	0	12	32				
FAM160B1	57700	broad.mit.edu	37	10	116605222	116605222	+	Silent	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr10:116605222C>T	ENST00000369248.4	+	8	1445	c.1110C>T	c.(1108-1110)ctC>ctT	p.L370L	FAM160B1_ENST00000369250.3_Silent_p.L370L	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	370										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						GTGATCAGCTCATTAAGGAAG	0.308																																						ENST00000369248.4																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						c.(1108-1110)ctC>ctT		family with sequence similarity 160, member B1							98.0	91.0	93.0					10																	116605222		2203	4300	6503	SO:0001819	synonymous_variant	57700							g.chr10:116605222C>T	AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"""KIAA1600"""	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.1110C>T	10.37:g.116605222C>T						FAM160B1_ENST00000369250.3_Silent_p.L370L	p.L370L	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN			8	1445	+			370					Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Silent	SNP	ENST00000369248.4	37	c.1110C>T	CCDS31290.1																																																																																				0.308	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050499.1	XM_049351		6	15	0	0	0	1	0	6	15				
SYT6	148281	broad.mit.edu	37	1	114682285	114682285	+	Missense_Mutation	SNP	C	C	T	rs138691067		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:114682285C>T	ENST00000610222.1	-	2	610	c.464G>A	c.(463-465)cGt>cAt	p.R155H	SYT6_ENST00000393296.1_Missense_Mutation_p.R155H|SYT6_ENST00000609117.1_Missense_Mutation_p.R70H|SYT6_ENST00000607941.1_Missense_Mutation_p.R70H|SYT6_ENST00000369547.1_Missense_Mutation_p.R70H			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	155					acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)	p.R70H(1)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCGGGTGTGACGCATGATGTG	0.622																																						ENST00000393296.1																			1	Substitution - Missense(1)	p.R70H(1)	large_intestine(1)	central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(463-465)cGt>cAt		synaptotagmin VI		C	HIS/ARG	0,4406		0,0,2203	101.0	80.0	87.0		209	5.5	1.0	1	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	missense	SYT6	NM_205848.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	70/426	114682285	1,13005	2203	4300	6503	SO:0001583	missense	148281				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	g.chr1:114682285C>T		CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"""Synaptotagmins"""	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.464G>A	1.37:g.114682285C>T	ENSP00000476396:p.Arg155His					SYT6_ENST00000369547.1_Missense_Mutation_p.R70H	p.R155H			Q5T7P8	SYT6_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	541	-	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)	155					B1AMB8|B3KPK1	Missense_Mutation	SNP	ENST00000610222.1	37	c.464G>A		.	.	.	.	.	.	.	.	.	.	C	16.36	3.101911	0.56183	0.0	1.16E-4	ENSG00000134207	ENST00000369547;ENST00000393296;ENST00000369546;ENST00000369545;ENST00000425037;ENST00000447981	T;T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;1.47;0.9	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.32615	0.0835	L	0.31207	0.915	0.80722	D	1	B	0.13594	0.008	B	0.14023	0.01	T	0.17349	-1.0372	10	0.17832	T	0.49	.	19.3929	0.94592	0.0:1.0:0.0:0.0	.	155	Q5T7P8	SYT6_HUMAN	H	70;155;70;155;70;70	ENSP00000358560:R70H;ENSP00000376974:R155H;ENSP00000358559:R70H;ENSP00000358558:R155H;ENSP00000412443:R70H;ENSP00000389266:R70H	ENSP00000358558:R155H	R	-	2	0	SYT6	114483808	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.071000	0.57556	2.583000	0.87209	0.655000	0.94253	CGT		0.622	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000314819.2	NM_205848		21	26	0	0	0	1	0	21	26				
MAP3K4	4216	broad.mit.edu	37	6	161455314	161455314	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:161455314C>T	ENST00000392142.4	+	2	324	c.176C>T	c.(175-177)tCa>tTa	p.S59L	MAP3K4_ENST00000348824.7_Missense_Mutation_p.S59L|MAP3K4_ENST00000366919.2_Missense_Mutation_p.S59L|MAP3K4_ENST00000366920.2_Missense_Mutation_p.S59L	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	59					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TTGGGAGATTCAGCTTGCAAG	0.398																																						ENST00000392142.4																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77						c.(175-177)tCa>tTa		mitogen-activated protein kinase kinase kinase 4							82.0	77.0	79.0					6																	161455314		2203	4300	6503	SO:0001583	missense	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161455314C>T	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.176C>T	6.37:g.161455314C>T	ENSP00000375986:p.Ser59Leu					MAP3K4_ENST00000348824.7_Missense_Mutation_p.S59L|MAP3K4_ENST00000366919.2_Missense_Mutation_p.S59L|MAP3K4_ENST00000366920.2_Missense_Mutation_p.S59L	p.S59L	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	2	324	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	59					A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	c.176C>T	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.230630	0.39399	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824;ENST00000544209	T;T;T;T	0.70986	-0.52;-0.53;-0.53;-0.52	5.49	2.11	0.27256	.	1.347570	0.05360	N	0.533432	T	0.30103	0.0754	N	0.22421	0.69	0.09310	N	1	B;B	0.15473	0.013;0.008	B;B	0.15484	0.013;0.006	T	0.19031	-1.0318	10	0.10636	T	0.68	-2.4447	6.9832	0.24713	0.0:0.6263:0.1378:0.2359	.	59;59	Q9Y6R4-2;Q9Y6R4	.;M3K4_HUMAN	L	59;59;59;59;59;38	ENSP00000355886:S59L;ENSP00000375986:S59L;ENSP00000355887:S59L;ENSP00000297332:S59L	ENSP00000297332:S59L	S	+	2	0	MAP3K4	161375304	0.005000	0.15991	0.000000	0.03702	0.096000	0.18686	0.641000	0.24720	0.749000	0.32854	0.558000	0.71614	TCA		0.398	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			12	38	0	0	0	1	0	12	38				
KLHL17	339451	broad.mit.edu	37	1	900541	900541	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:900541G>A	ENST00000338591.3	+	12	2006	c.1899G>A	c.(1897-1899)ccG>ccA	p.P633P	PLEKHN1_ENST00000379407.3_5'Flank|PLEKHN1_ENST00000379409.2_5'Flank|PLEKHN1_ENST00000379410.3_5'Flank	NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	633	Interaction with F-actin. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|dendrite cytoplasm (GO:0032839)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein complex scaffold (GO:0032947)			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CATCCTCCCCGACGCTGTCCG	0.667																																						ENST00000338591.3																			0				central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(1897-1899)ccG>ccA		kelch-like family member 17							52.0	41.0	45.0					1																	900541		2197	4291	6488	SO:0001819	synonymous_variant	339451				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold	g.chr1:900541G>A	AY423763	CCDS30550.1	1p36	2013-01-30	2013-01-30		ENSG00000187961	ENSG00000187961		"""Kelch-like"", ""BTB/POZ domain containing"""	24023	protein-coding gene	gene with protein product	"""actinfilin"""		"""kelch-like 17 (Drosophila)"""			12063253	Standard	NM_198317		Approved		uc001aca.2	Q6TDP4	OTTHUMG00000040721	ENST00000338591.3:c.1899G>A	1.37:g.900541G>A							p.P633P	NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	12	2006	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	633			Interaction with F-actin (By similarity).		Q5SV94	Silent	SNP	ENST00000338591.3	37	c.1899G>A	CCDS30550.1																																																																																				0.667	KLHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097875.3	NM_198317		19	39	0	0	0	1	0	19	39				
ELMO1	9844	broad.mit.edu	37	7	36895204	36895204	+	Silent	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr7:36895204C>T	ENST00000310758.4	-	22	2783	c.2136G>A	c.(2134-2136)ccG>ccA	p.P712P	ELMO1_ENST00000341056.3_Silent_p.P414P|ELMO1_ENST00000396040.2_Silent_p.P232P|ELMO1_ENST00000442504.1_Silent_p.P712P|ELMO1_ENST00000448602.1_Silent_p.P712P|ELMO1_ENST00000396045.3_Silent_p.P232P	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	712					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CCTTGGGAATCGGCGGAGGTG	0.567																																						ENST00000310758.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						c.(2134-2136)ccG>ccA		engulfment and cell motility 1							120.0	121.0	121.0					7																	36895204		2203	4300	6503	SO:0001819	synonymous_variant	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:36895204C>T	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.2136G>A	7.37:g.36895204C>T						ELMO1_ENST00000341056.3_Silent_p.P414P|ELMO1_ENST00000442504.1_Silent_p.P712P|ELMO1_ENST00000396045.3_Silent_p.P232P|ELMO1_ENST00000396040.2_Silent_p.P232P|ELMO1_ENST00000448602.1_Silent_p.P712P	p.P712P	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN			22	2783	-			712					A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Silent	SNP	ENST00000310758.4	37	c.2136G>A	CCDS5449.1																																																																																				0.567	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		14	73	0	0	0	1	0	14	73				
SART3	9733	broad.mit.edu	37	12	108920071	108920071	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr12:108920071G>A	ENST00000228284.3	-	16	2409	c.2175C>T	c.(2173-2175)ctC>ctT	p.L725L	SART3_ENST00000431469.2_Silent_p.L689L	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	725	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell morphogenesis (GO:0000902)|hematopoietic stem cell proliferation (GO:0071425)|homeostasis of number of cells (GO:0048872)|regulation of gene expression (GO:0010468)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						AGGCCTCGAAGAGTGGCCTGA	0.567									Porokeratosis																													ENST00000228284.3																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						c.(2173-2175)ctC>ctT		squamous cell carcinoma antigen recognized by T cells 3							100.0	84.0	90.0					12																	108920071		2203	4300	6503	SO:0001819	synonymous_variant	9733	Porokeratosis	Familial Cancer Database	incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis	RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr12:108920071G>A	AB020880	CCDS9117.1	12q24.11	2013-02-12	2006-12-07			ENSG00000075856		"""RNA binding motif (RRM) containing"""	16860	protein-coding gene	gene with protein product		611684	"""squamous cell carcinoma antigen recognised by T cells 3"""			12032085, 15840095, 20595234	Standard	NM_014706		Approved	KIAA0156, RP11-13G14, TIP110, p110	uc001tmz.1	Q15020	OTTHUMG00000169449	ENST00000228284.3:c.2175C>T	12.37:g.108920071G>A						SART3_ENST00000431469.2_Silent_p.L689L	p.L725L	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN			16	2409	-			725			RRM 1.		A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	Silent	SNP	ENST00000228284.3	37	c.2175C>T	CCDS9117.1	.	.	.	.	.	.	.	.	.	.	G	1.821	-0.472148	0.04445	.	.	ENSG00000075856	ENST00000412617	.	.	.	5.81	3.0	0.34707	.	0.058956	0.64402	D	0.000002	T	0.46737	0.1408	.	.	.	0.80722	D	1	B	0.10296	0.003	B	0.11329	0.006	T	0.39014	-0.9634	8	0.87932	D	0	-20.0894	7.8898	0.29672	0.1328:0.2473:0.62:0.0	.	672	E7EMI4	.	F	672	.	ENSP00000400292:L672F	L	-	1	0	SART3	107444201	1.000000	0.71417	0.984000	0.44739	0.157000	0.22087	1.535000	0.36061	0.372000	0.24591	0.655000	0.94253	CTT		0.567	SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404094.1			15	72	0	0	0	1	0	15	72				
FAM73A	374986	broad.mit.edu	37	1	78267146	78267146	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:78267146C>G	ENST00000370791.3	+	3	358	c.326C>G	c.(325-327)cCa>cGa	p.P109R	FAM73A_ENST00000443751.2_Missense_Mutation_p.P71R	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	109						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		CCATGGGAACCAGAGCACCTC	0.358																																						ENST00000370791.3																			0				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19						c.(325-327)cCa>cGa		family with sequence similarity 73, member A							77.0	79.0	78.0					1																	78267146		2203	4300	6503	SO:0001583	missense	374986					integral to membrane		g.chr1:78267146C>G		CCDS681.1, CCDS72809.1	1p31.1	2008-02-05			ENSG00000180488	ENSG00000180488			24741	protein-coding gene	gene with protein product							Standard	NM_001270384		Approved	FLJ35093	uc010ork.3	Q8NAN2	OTTHUMG00000009766	ENST00000370791.3:c.326C>G	1.37:g.78267146C>G	ENSP00000359827:p.Pro109Arg					FAM73A_ENST00000443751.2_Missense_Mutation_p.P71R	p.P109R	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN		Colorectal(170;0.226)	3	358	+			109					Q6MZG0	Missense_Mutation	SNP	ENST00000370791.3	37	c.326C>G	CCDS681.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.363695	0.82353	.	.	ENSG00000180488	ENST00000370791;ENST00000443751	T;T	0.22134	1.97;1.97	5.44	5.44	0.79542	.	0.109197	0.64402	D	0.000006	T	0.36276	0.0961	M	0.67953	2.075	0.58432	D	0.999994	D;D;D	0.71674	0.98;0.998;0.998	P;D;D	0.65233	0.693;0.933;0.933	T	0.03545	-1.1026	10	0.42905	T	0.14	-14.3804	19.2613	0.93968	0.0:1.0:0.0:0.0	.	71;109;109	F8W7S1;B7ZLZ8;Q8NAN2	.;.;FA73A_HUMAN	R	109;71	ENSP00000359827:P109R;ENSP00000393675:P71R	ENSP00000359827:P109R	P	+	2	0	FAM73A	78039734	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.386000	0.52492	2.546000	0.85860	0.655000	0.94253	CCA		0.358	FAM73A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026931.1	NM_198549		9	24	0	0	0	1	0	9	24				
JADE1	79960	broad.mit.edu	37	4	129770191	129770191	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr4:129770191C>T	ENST00000226319.6	+	5	633	c.353C>T	c.(352-354)tCa>tTa	p.S118L	PHF17_ENST00000511647.1_Missense_Mutation_p.S118L|PHF17_ENST00000512960.1_Missense_Mutation_p.S118L|PHF17_ENST00000452328.2_Missense_Mutation_p.S106L|PHF17_ENST00000413543.2_Missense_Mutation_p.S118L	NM_199320.2	NP_955352.1														NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TACATCGTGTCATCAGGCTCT	0.517																																						ENST00000226319.6																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(352-354)tCa>tTa									187.0	162.0	170.0					4																	129770191		2203	4300	6503	SO:0001583	missense	79960				apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding	g.chr4:129770191C>T																												ENST00000226319.6:c.353C>T	4.37:g.129770191C>T	ENSP00000226319:p.Ser118Leu					PHF17_ENST00000452328.2_Missense_Mutation_p.S106L|PHF17_ENST00000413543.2_Missense_Mutation_p.S118L|PHF17_ENST00000512960.1_Missense_Mutation_p.S118L|PHF17_ENST00000511647.1_Missense_Mutation_p.S118L	p.S118L	NM_199320.2	NP_955352.1	Q6IE81	JADE1_HUMAN			5	633	+			118						Missense_Mutation	SNP	ENST00000226319.6	37	c.353C>T	CCDS34062.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.075548	0.36662	.	.	ENSG00000077684	ENST00000226319;ENST00000511647;ENST00000452328;ENST00000504089;ENST00000512960;ENST00000503785;ENST00000535321;ENST00000510308;ENST00000413543;ENST00000507833;ENST00000508997	T;T;T;T;T;T;T;T;T	0.44083	1.02;1.02;0.93;1.02;1.02;1.02;1.02;1.02;1.02	4.69	4.69	0.59074	Enhancer of polycomb-like, N-terminal (1);	0.000000	0.52532	D	0.000064	T	0.38108	0.1028	L	0.31664	0.95	0.53005	D	0.999969	B;P;B	0.36086	0.078;0.536;0.002	B;B;B	0.41135	0.108;0.348;0.007	T	0.11421	-1.0588	9	.	.	.	.	18.1761	0.89761	0.0:1.0:0.0:0.0	.	106;118;118	Q6IE81-2;Q6IE81;Q6IE81-3	.;JADE1_HUMAN;.	L	118;118;106;118;118;118;118;118;118;118;118	ENSP00000226319:S118L;ENSP00000423737:S118L;ENSP00000388015:S106L;ENSP00000426590:S118L;ENSP00000425730:S118L;ENSP00000422445:S118L;ENSP00000421265:S118L;ENSP00000404211:S118L;ENSP00000424280:S118L	.	S	+	2	0	PHF17	129989641	1.000000	0.71417	0.388000	0.26195	0.178000	0.23041	5.074000	0.64401	2.577000	0.86979	0.655000	0.94253	TCA		0.517	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364280.1			23	56	0	0	0	1	0	23	56				
EML2	24139	broad.mit.edu	37	19	46136150	46136150	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr19:46136150C>G	ENST00000245925.3	-	6	529	c.479G>C	c.(478-480)aGa>aCa	p.R160T	EML2_ENST00000536630.1_Missense_Mutation_p.R307T|EML2_ENST00000587152.1_Missense_Mutation_p.R361T|EML2_ENST00000589876.1_Missense_Mutation_p.R160T|EML2_ENST00000586902.1_5'Flank	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	160	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		GCACACGGCTCTGTCAAACAC	0.617																																						ENST00000536630.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31						c.(919-921)aGa>aCa		echinoderm microtubule associated protein like 2							94.0	82.0	86.0					19																	46136150		2203	4300	6503	SO:0001583	missense	24139				sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding	g.chr19:46136150C>G	AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"""WD repeat domain containing"""	18035	protein-coding gene	gene with protein product	"""echinoderm MT-associated protein (EMAP)-like protein 70"", ""microtubule-associated protein like echinoderm EMAP"""					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.479G>C	19.37:g.46136150C>G	ENSP00000245925:p.Arg160Thr					EML2_ENST00000245925.3_Missense_Mutation_p.R160T|EML2_ENST00000589876.1_Missense_Mutation_p.R160T|EML2_ENST00000587152.1_Missense_Mutation_p.R361T	p.R307T	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)	9	1058	-		Ovarian(192;0.179)|all_neural(266;0.224)	160					B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Missense_Mutation	SNP	ENST00000245925.3	37	c.920G>C	CCDS12670.1	.	.	.	.	.	.	.	.	.	.	C	31	5.074086	0.94000	.	.	ENSG00000125746	ENST00000536630;ENST00000245925;ENST00000448055;ENST00000399594	T;T;T	0.40225	1.04;1.04;5.02	4.97	4.97	0.65823	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	T	0.66829	0.2829	M	0.83852	2.665	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.991;0.996;0.999	T	0.68398	-0.5419	10	0.42905	T	0.14	-13.9232	15.7695	0.78157	0.0:1.0:0.0:0.0	.	160;326;307;318;160	B7Z918;B7Z3Q9;B7Z3I2;B7Z872;O95834	.;.;.;.;EMAL2_HUMAN	T	307;160;361;318	ENSP00000442365:R307T;ENSP00000245925:R160T;ENSP00000382503:R318T	ENSP00000245925:R160T	R	-	2	0	EML2	50827990	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	7.211000	0.77933	2.567000	0.86603	0.563000	0.77884	AGA		0.617	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	NM_012155		6	22	0	0	0	1	0	6	22				
COL4A2	1284	broad.mit.edu	37	13	111160475	111160475	+	Silent	SNP	G	G	T	rs544072830		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr13:111160475G>T	ENST00000360467.5	+	47	5094	c.4788G>T	c.(4786-4788)ccG>ccT	p.P1596P	COL4A2-AS1_ENST00000417970.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1596	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GTGAGGCCCCGGCCATCGCCA	0.607																																						ENST00000360467.5																			0				NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(4786-4788)ccG>ccT		collagen, type IV, alpha 2							67.0	76.0	73.0					13																	111160475		2158	4264	6422	SO:0001819	synonymous_variant	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111160475G>T	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.4788G>T	13.37:g.111160475G>T						COL4A2-AS1_ENST00000417970.2_RNA	p.P1596P	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		47	5094	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	1596			Collagen IV NC1.		Q14052|Q548C3|Q5VZA9|Q66K23	Silent	SNP	ENST00000360467.5	37	c.4788G>T	CCDS41907.1																																																																																				0.607	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		5	49	1	0	5.9392e-07	1	6.23301e-07	5	49				
BTC	685	broad.mit.edu	37	4	75675857	75675857	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr4:75675857C>G	ENST00000395743.3	-	4	714	c.354G>C	c.(352-354)caG>caC	p.Q118H		NM_001729.2	NP_001720.1	P35070	BTC_HUMAN	betacellulin	118					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mitosis (GO:0045840)|positive regulation of urine volume (GO:0035810)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(101;0.219)			TCACCAGAATCTGTCCTCTGT	0.378																																						ENST00000395743.3																			0				central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10						c.(352-354)caG>caC		betacellulin							197.0	208.0	204.0					4																	75675857		2203	4300	6503	SO:0001583	missense	685				positive regulation of cell division|positive regulation of cell proliferation	extracellular space|integral to membrane|plasma membrane|soluble fraction	epidermal growth factor receptor binding|growth factor activity	g.chr4:75675857C>G	S55606	CCDS3566.1	4q13.3	2012-09-20			ENSG00000174808	ENSG00000174808			1121	protein-coding gene	gene with protein product		600345				8439318, 11522793	Standard	NM_001729		Approved		uc003hig.2	P35070	OTTHUMG00000130107	ENST00000395743.3:c.354G>C	4.37:g.75675857C>G	ENSP00000379092:p.Gln118His						p.Q118H	NM_001729.2	NP_001720.1	P35070	BTC_HUMAN	Lung(101;0.219)		4	714	-			118					Q96F48	Missense_Mutation	SNP	ENST00000395743.3	37	c.354G>C	CCDS3566.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.463832	0.26335	.	.	ENSG00000174808	ENST00000395743	T	0.26660	1.72	5.32	3.55	0.40652	.	0.241149	0.42821	N	0.000648	T	0.21841	0.0526	L	0.53249	1.67	0.32066	N	0.59501	P	0.44281	0.831	B	0.41571	0.36	T	0.24977	-1.0145	10	0.40728	T	0.16	-7.8009	4.4147	0.11450	0.1696:0.5979:0.1477:0.0848	.	118	P35070	BTC_HUMAN	H	118	ENSP00000379092:Q118H	ENSP00000379092:Q118H	Q	-	3	2	BTC	75894881	0.997000	0.39634	1.000000	0.80357	0.949000	0.60115	0.558000	0.23469	0.855000	0.35359	0.563000	0.77884	CAG		0.378	BTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252413.1			30	75	0	0	0	1	0	30	75				
PRKG2	5593	broad.mit.edu	37	4	82058607	82058607	+	Missense_Mutation	SNP	T	T	A	rs143281279		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr4:82058607T>A	ENST00000395578.1	-	13	1690	c.1574A>T	c.(1573-1575)tAt>tTt	p.Y525F	PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000264399.1_Missense_Mutation_p.Y525F|PRKG2_ENST00000545647.1_Missense_Mutation_p.Y105F|PRKG2_ENST00000418486.2_Missense_Mutation_p.Y496F			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	525	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						CATGTATACATACTTATTGTC	0.363																																						ENST00000395578.1																			0				NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						c.(1573-1575)tAt>tTt		protein kinase, cGMP-dependent, type II							123.0	122.0	122.0					4																	82058607		2203	4300	6503	SO:0001583	missense	5593				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr4:82058607T>A	X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.1574A>T	4.37:g.82058607T>A	ENSP00000378945:p.Tyr525Phe					PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000418486.2_Missense_Mutation_p.Y496F|PRKG2_ENST00000264399.1_Missense_Mutation_p.Y525F|PRKG2_ENST00000545647.1_Missense_Mutation_p.Y105F	p.Y525F			Q13237	KGP2_HUMAN			13	1690	-			525			Protein kinase.		B4DMX3|E7EPE6|O00125|O60916	Missense_Mutation	SNP	ENST00000395578.1	37	c.1574A>T	CCDS3589.1	.	.	.	.	.	.	.	.	.	.	T	15.00	2.702746	0.48307	.	.	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486;ENST00000545647	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	5.53	5.53	0.82687	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.053822	0.85682	D	0.000000	T	0.54481	0.1861	N	0.04355	-0.22	0.58432	D	0.999998	P;B	0.37708	0.606;0.402	P;P	0.51016	0.656;0.572	T	0.61277	-0.7095	10	0.37606	T	0.19	-15.5395	15.3104	0.74026	0.0:0.0:0.0:1.0	.	496;525	E7EPE6;Q13237	.;KGP2_HUMAN	F	525;525;496;105	ENSP00000378945:Y525F;ENSP00000264399:Y525F;ENSP00000389038:Y496F;ENSP00000439967:Y105F	ENSP00000264399:Y525F	Y	-	2	0	PRKG2	82277631	1.000000	0.71417	0.995000	0.50966	0.764000	0.43329	4.989000	0.63870	2.112000	0.64535	0.482000	0.46254	TAT		0.363	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1	NM_006259		18	55	0	0	0	1	0	18	55				
ACPP	55	broad.mit.edu	37	3	132063882	132063882	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr3:132063882G>C	ENST00000336375.5	+	7	850	c.760G>C	c.(760-762)Gag>Cag	p.E254Q	ACPP_ENST00000351273.7_Missense_Mutation_p.E254Q|ACPP_ENST00000475741.1_Missense_Mutation_p.E221Q	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	254					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleotide metabolic process (GO:0009117)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|purine nucleobase metabolic process (GO:0006144)|regulation of sensory perception of pain (GO:0051930)|thiamine metabolic process (GO:0006772)	apical part of cell (GO:0045177)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi cisterna (GO:0031985)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|vesicle membrane (GO:0012506)	5'-nucleotidase activity (GO:0008253)|acid phosphatase activity (GO:0003993)|choline binding (GO:0033265)|identical protein binding (GO:0042802)|lysophosphatidic acid phosphatase activity (GO:0052642)|phosphatase activity (GO:0016791)|thiamine phosphate phosphatase activity (GO:0042131)			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						CAAGCAGAAAGAGAAATCTAG	0.438																																						ENST00000336375.5																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(760-762)Gag>Cag		acid phosphatase, prostate							64.0	62.0	62.0					3																	132063882		2203	4300	6503	SO:0001583	missense	55					extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity	g.chr3:132063882G>C		CCDS3073.1, CCDS46916.1	3q22.1	2012-05-16			ENSG00000014257	ENSG00000014257	3.1.3.2		125	protein-coding gene	gene with protein product		171790					Standard	NM_001099		Approved	ACP3, ACP-3	uc003eop.4	P15309	OTTHUMG00000159650	ENST00000336375.5:c.760G>C	3.37:g.132063882G>C	ENSP00000337471:p.Glu254Gln					ACPP_ENST00000475741.1_Missense_Mutation_p.E221Q|ACPP_ENST00000351273.7_Missense_Mutation_p.E254Q	p.E254Q	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN			7	850	+			254					D3DNC6|Q5FBY0|Q96KY0|Q96QK9|Q96QM0	Missense_Mutation	SNP	ENST00000336375.5	37	c.760G>C	CCDS3073.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.432948	0.62844	.	.	ENSG00000014257	ENST00000336375;ENST00000475741;ENST00000351273	T;T;T	0.33216	1.42;1.42;1.42	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000002	T	0.33789	0.0875	L	0.56396	1.775	0.50813	D	0.99989	P;P;P	0.47484	0.633;0.896;0.83	B;B;B	0.40825	0.117;0.243;0.341	T	0.10706	-1.0618	10	0.42905	T	0.14	.	17.0713	0.86574	0.0:0.0:1.0:0.0	.	254;254;221	P15309;P15309-2;Q5FBY0	PPAP_HUMAN;.;.	Q	254;221;254	ENSP00000337471:E254Q;ENSP00000417744:E221Q;ENSP00000323036:E254Q	ENSP00000337471:E254Q	E	+	1	0	ACPP	133546572	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.281000	0.58965	2.634000	0.89283	0.650000	0.86243	GAG		0.438	ACPP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356699.2	NM_001099		13	23	0	0	0	1	0	13	23				
ITSN1	6453	broad.mit.edu	37	21	35107450	35107450	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr21:35107450C>G	ENST00000381318.3	+	5	575	c.287C>G	c.(286-288)tCt>tGt	p.S96C	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.S96C|ITSN1_ENST00000399352.1_Missense_Mutation_p.S96C|ITSN1_ENST00000399355.2_Missense_Mutation_p.S96C|ITSN1_ENST00000399338.4_Missense_Mutation_p.S96C|ITSN1_ENST00000379960.5_Missense_Mutation_p.S96C|ITSN1_ENST00000399367.3_Missense_Mutation_p.S96C|ITSN1_ENST00000399326.3_Missense_Mutation_p.S96C|ITSN1_ENST00000399353.1_Missense_Mutation_p.S96C|ITSN1_ENST00000381285.4_Missense_Mutation_p.S96C|ITSN1_ENST00000399349.1_Missense_Mutation_p.S96C|ITSN1_ENST00000381291.4_Missense_Mutation_p.S96C	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	96	EH 1. {ECO:0000255|PROSITE- ProRule:PRU00077}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CAGCTACCCTCTGCACTTCCC	0.398																																						ENST00000381318.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(286-288)tCt>tGt		intersectin 1 (SH3 domain protein)							127.0	112.0	117.0					21																	35107450		2203	4300	6503	SO:0001583	missense	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35107450C>G	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.287C>G	21.37:g.35107450C>G	ENSP00000370719:p.Ser96Cys					ITSN1_ENST00000399349.1_Missense_Mutation_p.S96C|ITSN1_ENST00000399338.4_Missense_Mutation_p.S96C|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381285.4_Missense_Mutation_p.S96C|ITSN1_ENST00000399352.1_Missense_Mutation_p.S96C|ITSN1_ENST00000399367.3_Missense_Mutation_p.S96C|ITSN1_ENST00000399355.2_Missense_Mutation_p.S96C|ITSN1_ENST00000399326.3_Missense_Mutation_p.S96C|ITSN1_ENST00000437442.2_Missense_Mutation_p.S96C|ITSN1_ENST00000381291.4_Missense_Mutation_p.S96C|ITSN1_ENST00000399353.1_Missense_Mutation_p.S96C|ITSN1_ENST00000379960.5_Missense_Mutation_p.S96C	p.S96C	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN			5	575	+			96			EH 1.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	c.287C>G	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.716914	0.48622	.	.	ENSG00000205726	ENST00000399353;ENST00000444491;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000381283;ENST00000399338;ENST00000437442;ENST00000399326;ENST00000379960	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43	5.58	4.69	0.59074	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.172636	0.52532	D	0.000065	T	0.49966	0.1588	M	0.69185	2.1	0.20926	N	0.999827	B;B;B;B;B;D;B;B;B;B	0.60160	0.124;0.124;0.124;0.318;0.291;0.987;0.318;0.318;0.291;0.124	B;B;B;B;B;P;B;B;B;B	0.58928	0.221;0.221;0.221;0.161;0.141;0.848;0.161;0.161;0.141;0.221	T	0.48433	-0.9036	10	0.48119	T	0.1	.	16.5141	0.84294	0.0:0.8689:0.1311:0.0	.	96;96;96;96;96;96;96;96;96;96	A8D7D0;A7XZY7;A8CTY7;A8CTY3;F8W7U0;E7ERJ1;A8CTX8;Q15811;Q15811-3;E7ERJ0	.;.;.;.;.;.;.;ITSN1_HUMAN;.;.	C	96	ENSP00000382290:S96C;ENSP00000400079:S96C;ENSP00000370719:S96C;ENSP00000370691:S96C;ENSP00000370685:S96C;ENSP00000382301:S96C;ENSP00000382289:S96C;ENSP00000382292:S96C;ENSP00000382286:S96C;ENSP00000370683:S96C;ENSP00000382275:S96C;ENSP00000387377:S96C;ENSP00000382265:S96C;ENSP00000369294:S96C	ENSP00000369294:S96C	S	+	2	0	ITSN1	34029320	0.706000	0.27856	0.094000	0.20943	0.777000	0.43975	6.037000	0.70956	1.333000	0.45449	0.563000	0.77884	TCT		0.398	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		15	72	0	0	0	1	0	15	72				
HMGN3	9324	broad.mit.edu	37	6	79912025	79912025	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:79912025G>A	ENST00000344726.5	-	5	357	c.229C>T	c.(229-231)Cca>Tca	p.P77S	HMGN3_ENST00000275036.7_Intron	NM_001201362.1|NM_001201363.1|NM_004242.3	NP_001188291.1|NP_001188292.1|NP_004233.1	Q15651	HMGN3_HUMAN	high mobility group nucleosomal binding domain 3	77					chromatin modification (GO:0016568)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|thyroid hormone receptor binding (GO:0046966)			central_nervous_system(1)|kidney(2)|lung(1)	4		all_cancers(76;0.000116)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0393)		BRCA - Breast invasive adenocarcinoma(397;0.125)		TTTTCAGATGGTGCAGTACCT	0.418																																						ENST00000344726.5																			0				central_nervous_system(1)|kidney(2)|lung(1)	4						c.(229-231)Cca>Tca		high mobility group nucleosomal binding domain 3							232.0	216.0	222.0					6																	79912025		2203	4300	6503	SO:0001583	missense	9324				chromatin modification	chromatin|cytoplasm|nucleus	DNA binding|thyroid hormone receptor binding	g.chr6:79912025G>A	L40357	CCDS4988.1, CCDS4989.1, CCDS75485.1	6q14.3	2011-07-01	2002-07-25	2002-07-26	ENSG00000118418	ENSG00000118418		"""High-mobility group / Canonical"""	12312	protein-coding gene	gene with protein product		604502	"""thyroid hormone receptor interactor 7"""	TRIP7		7776974, 11356838	Standard	NM_004242		Approved		uc021zbz.1	Q15651	OTTHUMG00000015073	ENST00000344726.5:c.229C>T	6.37:g.79912025G>A	ENSP00000341267:p.Pro77Ser					HMGN3_ENST00000275036.7_Intron	p.P77S	NM_001201362.1|NM_001201363.1|NM_004242.3	NP_001188291.1|NP_001188292.1|NP_004233.1	Q15651	HMGN3_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.125)	5	357	-		all_cancers(76;0.000116)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0393)	77					B2RD37|Q5HYD3|Q7RTT0|Q969M5|Q9BZT7	Missense_Mutation	SNP	ENST00000344726.5	37	c.229C>T	CCDS4988.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.476323	0.63737	.	.	ENSG00000118418	ENST00000344726	.	.	.	5.36	5.36	0.76844	.	0.051812	0.85682	D	0.000000	T	0.76579	0.4007	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75847	-0.3173	7	.	.	.	.	18.2596	0.90030	0.0:0.0:1.0:0.0	.	77	Q15651	HMGN3_HUMAN	S	77	.	.	P	-	1	0	HMGN3	79968744	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.094000	0.76944	2.790000	0.95986	0.655000	0.94253	CCA		0.418	HMGN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041300.1	NM_004242		19	99	0	0	0	1	0	19	99				
TRPV3	162514	broad.mit.edu	37	17	3448490	3448490	+	Silent	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr17:3448490G>C	ENST00000576742.1	-	3	516	c.195C>G	c.(193-195)tcC>tcG	p.S65S	TRPV3_ENST00000572519.1_Silent_p.S65S|TRPV3_ENST00000301365.4_Silent_p.S65S	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	65					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	CCATGGGCTTGGAGAAGACAG	0.592																																						ENST00000301365.4																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35						c.(193-195)tcC>tcG		transient receptor potential cation channel, subfamily V, member 3	Menthol(DB00825)						115.0	100.0	105.0					17																	3448490		2203	4300	6503	SO:0001819	synonymous_variant	162514					integral to membrane	calcium channel activity	g.chr17:3448490G>C	AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.195C>G	17.37:g.3448490G>C						TRPV3_ENST00000572519.1_Silent_p.S65S|TRPV3_ENST00000576742.1_Silent_p.S65S	p.S65S			Q8NET8	TRPV3_HUMAN			3	326	-			65					Q8NDW7|Q8NET9|Q8NFH2	Silent	SNP	ENST00000576742.1	37	c.195C>G	CCDS11029.1																																																																																				0.592	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	NM_145068		6	37	0	0	0	1	0	6	37				
FAM71E1	112703	broad.mit.edu	37	19	50978661	50978661	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr19:50978661A>G	ENST00000600100.1	-	3	824	c.460T>C	c.(460-462)Tcc>Ccc	p.S154P	FAM71E1_ENST00000595790.1_Missense_Mutation_p.S138P|EMC10_ENST00000376918.3_5'Flank|EMC10_ENST00000334976.6_5'Flank|EMC10_ENST00000598585.1_5'Flank			Q6IPT2	F71E1_HUMAN	family with sequence similarity 71, member E1	154										breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)		GCTGGACTGGAGGCTGCCACC	0.642																																						ENST00000600100.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(460-462)Tcc>Ccc		family with sequence similarity 71, member E1							33.0	33.0	33.0					19																	50978661		2201	4297	6498	SO:0001583	missense	112703							g.chr19:50978661A>G		CCDS33081.1	19q13.33	2007-11-20				ENSG00000142530			25107	protein-coding gene	gene with protein product							Standard	XM_005258472		Approved		uc002psg.3	Q6IPT2		ENST00000600100.1:c.460T>C	19.37:g.50978661A>G	ENSP00000472421:p.Ser154Pro					FAM71E1_ENST00000595790.1_Missense_Mutation_p.S138P	p.S154P			Q6IPT2	F71E1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)	3	824	-		all_neural(266;0.131)	154					Q96EJ5|Q9BSM9	Missense_Mutation	SNP	ENST00000600100.1	37	c.460T>C		.	.	.	.	.	.	.	.	.	.	A	18.20	3.572281	0.65765	.	.	ENSG00000142530	ENST00000391816;ENST00000270620	T;T	0.20881	2.33;2.04	4.79	3.71	0.42584	.	0.253139	0.27991	N	0.017037	T	0.36524	0.0970	M	0.64997	1.995	0.31343	N	0.683445	D;D	0.71674	0.998;0.997	P;D	0.63793	0.878;0.918	T	0.40251	-0.9573	10	0.87932	D	0	-27.4651	8.2237	0.31556	0.7537:0.0:0.0:0.2463	.	154;138	Q6IPT2;Q6IPT2-2	F71E1_HUMAN;.	P	154;138	ENSP00000375692:S154P;ENSP00000270620:S138P	ENSP00000270620:S138P	S	-	1	0	FAM71E1	55670473	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.021000	0.41020	1.926000	0.55796	0.379000	0.24179	TCC		0.642	FAM71E1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464754.2			3	16	0	0	0	1	0	3	16				
ST14	6768	broad.mit.edu	37	11	130060365	130060365	+	Silent	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr11:130060365C>A	ENST00000278742.5	+	7	1069	c.651C>A	c.(649-651)ggC>ggA	p.G217G		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	217	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GCAGCTTTGGCCTGCACGCCC	0.711																																						ENST00000278742.5																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32						c.(649-651)ggC>ggA		suppression of tumorigenicity 14 (colon carcinoma)	Urokinase(DB00013)						28.0	34.0	32.0					11																	130060365		2195	4288	6483	SO:0001819	synonymous_variant	6768				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr11:130060365C>A	AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"""Serine peptidases / Transmembrane"""	11344	protein-coding gene	gene with protein product	"""epithin"", ""matriptase"""	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.651C>A	11.37:g.130060365C>A							p.G217G	NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	7	1069	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	217			CUB 1.		Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Silent	SNP	ENST00000278742.5	37	c.651C>A	CCDS8487.1																																																																																				0.711	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1			10	94	1	0	0.00621372	1	0.00634183	10	94				
ITPRIPL1	150771	broad.mit.edu	37	2	96993392	96993392	+	Silent	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr2:96993392C>G	ENST00000439118.2	+	3	1274	c.1023C>G	c.(1021-1023)ctC>ctG	p.L341L	ITPRIPL1_ENST00000542887.1_Silent_p.L333L|ITPRIPL1_ENST00000536814.1_Silent_p.L333L|ITPRIPL1_ENST00000361124.4_Silent_p.L349L	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	341						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ACTTTAAACTCAGTCTCCCAC	0.572																																						ENST00000361124.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1045-1047)ctC>ctG		inositol 1,4,5-trisphosphate receptor interacting protein-like 1							72.0	72.0	72.0					2																	96993392		2203	4300	6503	SO:0001819	synonymous_variant	150771					integral to membrane		g.chr2:96993392C>G		CCDS33250.1, CCDS46360.1, CCDS54378.1	2q11.2	2011-04-28	2011-04-28	2008-08-11	ENSG00000198885	ENSG00000198885			29371	protein-coding gene	gene with protein product			"""KIAA1754-like"", ""inositol 1,4,5-triphosphate receptor interacting protein-like 1"""	KIAA1754L		12477932	Standard	NM_178495		Approved		uc010yul.2	Q6GPH6	OTTHUMG00000155230	ENST00000439118.2:c.1023C>G	2.37:g.96993392C>G						ITPRIPL1_ENST00000542887.1_Silent_p.L333L|ITPRIPL1_ENST00000439118.2_Silent_p.L341L|ITPRIPL1_ENST00000536814.1_Silent_p.L333L	p.L349L	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN			1	1458	+			341					F5H1L8|Q8NE61	Silent	SNP	ENST00000439118.2	37	c.1047C>G	CCDS46360.1	.	.	.	.	.	.	.	.	.	.	C	4.667	0.124013	0.08931	.	.	ENSG00000198885	ENST00000420728	.	.	.	5.65	3.71	0.42584	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.829	5.454	0.16580	0.1483:0.625:0.1438:0.0828	.	.	.	.	X	373	.	.	S	+	2	0	ITPRIPL1	96357119	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.757000	0.26433	1.602000	0.50124	0.655000	0.94253	TCA		0.572	ITPRIPL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338896.1	NM_178495		14	68	0	0	0	1	0	14	68				
NCOA2	10499	broad.mit.edu	37	8	71082580	71082580	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr8:71082580T>A	ENST00000452400.2	-	6	579	c.398A>T	c.(397-399)gAa>gTa	p.E133V		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	133	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			AACGTTGCCTTCCAGGTTCAC	0.393			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	ENST00000452400.2				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	"""RUNXBP2, HEY1"""		"""AML, Chondrosarcoma"""	PAX3/NCOA2(4)|HEY1/NCOA2(10)	0				NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60						c.(397-399)gAa>gTa		nuclear receptor coactivator 2							91.0	78.0	82.0					8																	71082580		1905	4124	6029	SO:0001583	missense	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71082580T>A	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.398A>T	8.37:g.71082580T>A	ENSP00000399968:p.Glu133Val						p.E133V	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		6	579	-	Breast(64;0.201)		133			PAS.		Q14CD2	Missense_Mutation	SNP	ENST00000452400.2	37	c.398A>T	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.855519	0.91355	.	.	ENSG00000140396	ENST00000452400	T	0.20332	2.08	5.49	5.49	0.81192	PAS (2);PAS fold (1);	0.000000	0.85682	D	0.000000	T	0.53850	0.1822	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63695	-0.6579	10	0.87932	D	0	.	15.5729	0.76354	0.0:0.0:0.0:1.0	.	133	Q15596	NCOA2_HUMAN	V	133	ENSP00000399968:E133V	ENSP00000399968:E133V	E	-	2	0	NCOA2	71245134	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.036000	0.88901	2.074000	0.62210	0.528000	0.53228	GAA		0.393	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			5	4	0	0	0	1	0	5	4				
DEPDC5	9681	broad.mit.edu	37	22	32161047	32161047	+	Splice_Site	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr22:32161047G>A	ENST00000382112.3	+	4	349		c.e4+1		DEPDC5_ENST00000266091.3_Splice_Site|DEPDC5_ENST00000400249.2_Splice_Site|DEPDC5_ENST00000382111.2_Splice_Site|DEPDC5_ENST00000536766.1_Splice_Site|DEPDC5_ENST00000400248.2_Splice_Site|DEPDC5_ENST00000400246.1_Splice_Site|DEPDC5_ENST00000535622.1_Splice_Site|DEPDC5_ENST00000382105.2_Splice_Site|DEPDC5_ENST00000400242.3_Splice_Site	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5						intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGACCCTAAGGTATGTCTTTG	0.388																																						ENST00000400246.1																			0				breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.e5+1		DEP domain containing 5							194.0	181.0	185.0					22																	32161047		1926	4143	6069	SO:0001630	splice_region_variant	9681				intracellular signal transduction			g.chr22:32161047G>A	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.279+1G>A	22.37:g.32161047G>A						DEPDC5_ENST00000400248.1_Splice_Site|DEPDC5_ENST00000400242.3_Splice_Site|DEPDC5_ENST00000536766.1_Splice_Site|DEPDC5_ENST00000382112.3_Splice_Site|DEPDC5_ENST00000266091.3_Splice_Site|DEPDC5_ENST00000400249.2_Splice_Site|DEPDC5_ENST00000382105.2_Splice_Site|DEPDC5_ENST00000382111.2_Splice_Site|DEPDC5_ENST00000535622.1_Splice_Site				O75140	DEPD5_HUMAN			5	421	+								A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Splice_Site	SNP	ENST00000382112.3	37		CCDS46692.1	.	.	.	.	.	.	.	.	.	.	g	20.8	4.057545	0.76074	.	.	ENSG00000100150	ENST00000535622;ENST00000536766;ENST00000400242;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0761	0.80969	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DEPDC5	30491047	1.000000	0.71417	0.996000	0.52242	0.761000	0.43186	9.015000	0.93640	2.376000	0.81061	0.585000	0.79938	.		0.388	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662	Intron	7	30	0	0	0	1	0	7	30				
CDHR2	54825	broad.mit.edu	37	5	176018456	176018456	+	Silent	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr5:176018456C>A	ENST00000510636.1	+	30	3979	c.3705C>A	c.(3703-3705)ctC>ctA	p.L1235L	CDHR2_ENST00000261944.5_Silent_p.L1235L|CDHR2_ENST00000506348.1_Silent_p.L1235L	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1235					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TGGAGTACCTCTCTCCCTCCA	0.602																																						ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(3703-3705)ctC>ctA		cadherin-related family member 2							92.0	75.0	81.0					5																	176018456		2203	4300	6503	SO:0001819	synonymous_variant	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176018456C>A	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.3705C>A	5.37:g.176018456C>A						CDHR2_ENST00000506348.1_Silent_p.L1235L|CDHR2_ENST00000261944.5_Silent_p.L1235L	p.L1235L	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN			30	3979	+			1235					A1L3U4|A6NC80|Q9NXP8	Silent	SNP	ENST00000510636.1	37	c.3705C>A	CCDS34297.1																																																																																				0.602	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		18	62	1	0	6.94344e-10	1	7.66618e-10	18	62				
NCAPG2	54892	broad.mit.edu	37	7	158472660	158472660	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr7:158472660C>T	ENST00000409423.1	-	12	1310	c.1138G>A	c.(1138-1140)Gag>Aag	p.E380K	NCAPG2_ENST00000356309.3_Missense_Mutation_p.E380K|NCAPG2_ENST00000409339.3_Missense_Mutation_p.E380K|NCAPG2_ENST00000449727.2_Missense_Mutation_p.E380K|NCAPG2_ENST00000275830.10_Missense_Mutation_p.E172K	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	380					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		ACATAGAGCTCTTCAAACTGT	0.433																																						ENST00000409339.3																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39						c.(1138-1140)Gag>Aag		non-SMC condensin II complex, subunit G2							154.0	147.0	149.0					7																	158472660		1973	4158	6131	SO:0001583	missense	54892				cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	g.chr7:158472660C>T	BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"""leucine zipper protein 5"""	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.1138G>A	7.37:g.158472660C>T	ENSP00000386569:p.Glu380Lys					NCAPG2_ENST00000449727.2_Missense_Mutation_p.E380K|NCAPG2_ENST00000275830.10_Missense_Mutation_p.E172K|NCAPG2_ENST00000409423.1_Missense_Mutation_p.E380K|NCAPG2_ENST00000356309.3_Missense_Mutation_p.E380K	p.E380K			Q86XI2	CNDG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)	11	1251	-	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	380					A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Missense_Mutation	SNP	ENST00000409423.1	37	c.1138G>A	CCDS43686.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.824831	0.90955	.	.	ENSG00000146918	ENST00000356309;ENST00000409423;ENST00000275830;ENST00000409339;ENST00000449727	T;T;T;T;T	0.31247	1.51;1.51;1.5;1.51;1.51	6.17	6.17	0.99709	Armadillo-like helical (1);Armadillo-type fold (1);	0.100798	0.64402	D	0.000001	T	0.52025	0.1709	L	0.56769	1.78	0.44006	D	0.99671	D;D;D	0.76494	0.998;0.999;0.996	D;D;P	0.80764	0.956;0.994;0.905	T	0.21245	-1.0251	10	0.11182	T	0.66	-30.2225	20.8794	0.99867	0.0:1.0:0.0:0.0	.	380;172;380	Q86XI2-2;E7EUH9;Q86XI2	.;.;CNDG2_HUMAN	K	380;380;172;380;380	ENSP00000348657:E380K;ENSP00000386569:E380K;ENSP00000275830:E172K;ENSP00000387007:E380K;ENSP00000388326:E380K	ENSP00000275830:E172K	E	-	1	0	NCAPG2	158165421	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	3.427000	0.52785	2.941000	0.99782	0.655000	0.94253	GAG		0.433	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760		10	80	0	0	0	1	0	10	80				
SEMA4C	54910	broad.mit.edu	37	2	97527348	97527348	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr2:97527348G>A	ENST00000305476.5	-	14	1772	c.1640C>T	c.(1639-1641)tCa>tTa	p.S547L		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	547	PSI.				cell migration in hindbrain (GO:0021535)|cerebellum development (GO:0021549)|muscle cell differentiation (GO:0042692)|neural tube closure (GO:0001843)|positive regulation of stress-activated MAPK cascade (GO:0032874)|semaphorin-plexin signaling pathway (GO:0071526)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle membrane (GO:0030672)	receptor activity (GO:0004872)			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GCAGATGCCTGAAGTGTCCGA	0.557																																						ENST00000305476.5																			0				NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						c.(1639-1641)tCa>tTa		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C							178.0	175.0	176.0					2																	97527348		2203	4300	6503	SO:0001583	missense	54910				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity	g.chr2:97527348G>A	AB051526	CCDS2029.1	2q11.2	2013-01-11			ENSG00000168758	ENSG00000168758		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10731	protein-coding gene	gene with protein product	"""M-Sema F"""	604462		SEMAI		7656991	Standard	NM_017789		Approved	Semacl1, Semaf	uc002sxh.4	Q9C0C4	OTTHUMG00000130535	ENST00000305476.5:c.1640C>T	2.37:g.97527348G>A	ENSP00000306844:p.Ser547Leu						p.S547L	NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN			14	1772	-			547			PSI.		Q32MJ3|Q7Z5X0	Missense_Mutation	SNP	ENST00000305476.5	37	c.1640C>T	CCDS2029.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.592568	0.46214	.	.	ENSG00000168758	ENST00000305476	T	0.20463	2.07	4.55	4.55	0.56014	.	0.332087	0.28828	N	0.014015	T	0.26268	0.0641	N	0.13140	0.3	0.37405	D	0.913024	P;P;D	0.62365	0.899;0.647;0.991	P;P;D	0.78314	0.593;0.593;0.991	T	0.10359	-1.0633	10	0.22706	T	0.39	.	12.9823	0.58570	0.0:0.0:1.0:0.0	.	547;257;47	Q9C0C4;Q6P5A5;Q71RG3	SEM4C_HUMAN;.;.	L	547	ENSP00000306844:S547L	ENSP00000306844:S547L	S	-	2	0	SEMA4C	96891075	0.103000	0.21917	0.523000	0.27875	0.292000	0.27327	2.353000	0.44089	2.516000	0.84829	0.609000	0.83330	TCA		0.557	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252957.1	NM_017789		32	102	0	0	0	1	0	32	102				
MOXD1	26002	broad.mit.edu	37	6	132645203	132645203	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:132645203T>A	ENST00000367963.3	-	7	1098	c.980A>T	c.(979-981)tAc>tTc	p.Y327F	MOXD1_ENST00000336749.3_Missense_Mutation_p.Y259F|MOXD1_ENST00000489128.1_5'UTR	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	327						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		ATCCATTGTGTAAAATAACCT	0.398																																						ENST00000367963.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37						c.(979-981)tAc>tTc		monooxygenase, DBH-like 1							104.0	105.0	105.0					6																	132645203		2203	4300	6503	SO:0001583	missense	26002				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	g.chr6:132645203T>A	AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.980A>T	6.37:g.132645203T>A	ENSP00000356940:p.Tyr327Phe					MOXD1_ENST00000489128.1_5'UTR|MOXD1_ENST00000336749.3_Missense_Mutation_p.Y259F	p.Y327F	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)	7	1098	-	Breast(56;0.0495)		327					Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Missense_Mutation	SNP	ENST00000367963.3	37	c.980A>T	CCDS5152.2	.	.	.	.	.	.	.	.	.	.	T	20.8	4.048882	0.75846	.	.	ENSG00000079931	ENST00000367963;ENST00000336749	T;T	0.35236	1.32;1.32	5.75	5.75	0.90469	Copper type II, ascorbate-dependent monooxygenase, N-terminal (1);PHM/PNGase F domain (1);	0.202454	0.43579	D	0.000550	T	0.28665	0.0710	M	0.72894	2.215	0.80722	D	1	P;B	0.40431	0.717;0.449	B;B	0.37888	0.209;0.26	T	0.16897	-1.0387	10	0.49607	T	0.09	-13.1108	16.0455	0.80717	0.0:0.0:0.0:1.0	.	327;259	Q6UVY6;Q6UVY6-2	MOXD1_HUMAN;.	F	327;259	ENSP00000356940:Y327F;ENSP00000336998:Y259F	ENSP00000336998:Y259F	Y	-	2	0	MOXD1	132686896	1.000000	0.71417	0.845000	0.33349	0.408000	0.30992	6.742000	0.74843	2.189000	0.69895	0.460000	0.39030	TAC		0.398	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000125837.1	NM_015529		14	45	0	0	0	1	0	14	45				
C16orf62	57020	broad.mit.edu	37	16	19628032	19628032	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr16:19628032C>T	ENST00000251143.5	+	14	1138	c.1126C>T	c.(1126-1128)Cag>Tag	p.Q376*	C16orf62_ENST00000438132.3_Nonsense_Mutation_p.Q465*|C16orf62_ENST00000448695.1_Nonsense_Mutation_p.Q226*|C16orf62_ENST00000542263.1_Intron|C16orf62_ENST00000417362.2_Intron|C16orf62_ENST00000543152.1_Nonsense_Mutation_p.Q125*			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	376						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						GGTCCAGAACCAGCTGGTGGT	0.512																																						ENST00000438132.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						c.(1393-1395)Cag>Tag		chromosome 16 open reading frame 62							140.0	115.0	124.0					16																	19628032		2197	4300	6497	SO:0001587	stop_gained	57020					integral to membrane		g.chr16:19628032C>T		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.1126C>T	16.37:g.19628032C>T	ENSP00000251143:p.Gln376*					C16orf62_ENST00000448695.1_Nonsense_Mutation_p.Q226*|C16orf62_ENST00000251143.5_Nonsense_Mutation_p.Q376*|C16orf62_ENST00000543152.1_Nonsense_Mutation_p.Q125*|C16orf62_ENST00000417362.2_Intron|C16orf62_ENST00000542263.1_Intron	p.Q465*	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN			14	1441	+			376					A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Nonsense_Mutation	SNP	ENST00000251143.5	37	c.1393C>T		.	.	.	.	.	.	.	.	.	.	C	33	5.225281	0.95173	.	.	ENSG00000103544	ENST00000438132;ENST00000251143;ENST00000448695	.	.	.	5.38	5.38	0.77491	.	0.060815	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-23.135	18.7567	0.91835	0.0:1.0:0.0:0.0	.	.	.	.	X	465;376;226	.	.	Q	+	1	0	C16orf62	19535533	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.313000	0.78978	2.524000	0.85096	0.557000	0.71058	CAG		0.512	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314		10	35	0	0	0	1	0	10	35				
ELOVL4	6785	broad.mit.edu	37	6	80634736	80634736	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:80634736G>A	ENST00000369816.4	-	3	602	c.302C>T	c.(301-303)tCa>tTa	p.S101L		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	101					cellular lipid metabolic process (GO:0044255)|detection of visible light (GO:0009584)|fatty acid biosynthetic process (GO:0006633)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)	G-protein coupled photoreceptor activity (GO:0008020)|transferase activity (GO:0016740)			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	CGCATTATATGATCCCATGAA	0.279																																						ENST00000369816.4																			0				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(301-303)tCa>tTa		ELOVL fatty acid elongase 4	Alpha-Linolenic Acid(DB00132)						64.0	67.0	66.0					6																	80634736		2202	4294	6496	SO:0001583	missense	6785				fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups	g.chr6:80634736G>A	AF277094	CCDS4992.1	6q14	2013-01-08	2011-05-25		ENSG00000118402	ENSG00000118402			14415	protein-coding gene	gene with protein product	"""cancer/testis antigen 118"""	605512	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4"""	STGD2, STGD3		11138005	Standard	NM_022726		Approved	CT118	uc003pja.4	Q9GZR5	OTTHUMG00000015087	ENST00000369816.4:c.302C>T	6.37:g.80634736G>A	ENSP00000358831:p.Ser101Leu						p.S101L	NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0168)	3	602	-		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)	101					B2R6B5|Q5TCS2|Q86YJ1|Q9H139	Missense_Mutation	SNP	ENST00000369816.4	37	c.302C>T	CCDS4992.1	.	.	.	.	.	.	.	.	.	.	G	33	5.202678	0.94997	.	.	ENSG00000118402	ENST00000369816	T	0.22743	1.94	6.03	6.03	0.97812	.	0.201399	0.43919	D	0.000513	T	0.21347	0.0514	L	0.33792	1.035	0.58432	D	0.999999	P	0.38473	0.633	P	0.49421	0.61	T	0.00920	-1.1514	10	0.49607	T	0.09	-10.9911	19.545	0.95291	0.0:0.0:1.0:0.0	.	101	Q9GZR5	ELOV4_HUMAN	L	101	ENSP00000358831:S101L	ENSP00000358831:S101L	S	-	2	0	ELOVL4	80691455	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.869000	0.99810	2.861000	0.98227	0.655000	0.94253	TCA		0.279	ELOVL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041315.1			6	25	0	0	0	1	0	6	25				
RNASET2	8635	broad.mit.edu	37	6	167343140	167343140	+	Missense_Mutation	SNP	C	C	T	rs146590748	byFrequency	TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:167343140C>T	ENST00000508775.1	-	9	1226	c.707G>A	c.(706-708)cGg>cAg	p.R236Q	RNASET2_ENST00000366855.6_Missense_Mutation_p.R198Q|RP11-514O12.4_ENST00000507747.1_Intron|RNASET2_ENST00000476238.2_Missense_Mutation_p.R236Q	NM_003730.4	NP_003721.2	O00584	RNT2_HUMAN	ribonuclease T2	236			R -> W (in dbSNP:rs11159).		RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	ribonuclease activity (GO:0004540)|ribonuclease T2 activity (GO:0033897)|RNA binding (GO:0003723)	p.R236L(1)		large_intestine(4)|lung(4)	8		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)		TCTCAGACCCCGGCTCTCGGC	0.542													C|||	7	0.00139776	0.0	0.0014	5008	,	,		15448	0.004		0.0	False		,,,				2504	0.002					ENST00000366855.6																			1	Substitution - Missense(1)	p.R236L(1)	lung(1)	large_intestine(4)|lung(4)	8						c.(592-594)cGg>cAg		ribonuclease T2		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	138.0	162.0	154.0		707	-3.5	0.0	6	dbSNP_134	154	3,8597	3.0+/-9.4	0,3,4297	no	missense	RNASET2	NM_003730.4	43	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	possibly-damaging	236/257	167343140	4,13002	2203	4300	6503	SO:0001583	missense	8635				RNA catabolic process	extracellular region	ribonuclease T2 activity|RNA binding	g.chr6:167343140C>T	AJ419866	CCDS5295.1	6q27	2014-05-20			ENSG00000026297	ENSG00000026297			21686	protein-coding gene	gene with protein product		612944				9192857	Standard	NM_003730		Approved	RNASE6PL, FLJ10907, bA514O12.3	uc003qve.3	O00584	OTTHUMG00000016009	ENST00000508775.1:c.707G>A	6.37:g.167343140C>T	ENSP00000426455:p.Arg236Gln					RP11-514O12.4_ENST00000507747.1_Intron|RNASET2_ENST00000476238.2_Missense_Mutation_p.R236Q|RNASET2_ENST00000508775.1_Missense_Mutation_p.R236Q	p.R198Q			O00584	RNT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)	10	1268	-		Breast(66;1.53e-05)|Ovarian(120;0.0606)	236					B2RDA7|E1P5C3|Q5T8Q0|Q8TCU2|Q9BZ46|Q9BZ47	Missense_Mutation	SNP	ENST00000508775.1	37	c.593G>A	CCDS5295.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	7.932	0.740848	0.15642	2.27E-4	3.49E-4	ENSG00000026297	ENST00000366855;ENST00000508775;ENST00000428859;ENST00000476238;ENST00000478180	T;T;T;T	0.62788	-0.0;0.0;0.0;0.01	4.44	-3.46	0.04767	.	1.496370	0.03949	N	0.288231	T	0.12518	0.0304	N	0.14661	0.345	0.09310	N	1	B;B	0.28291	0.206;0.071	B;B	0.15052	0.012;0.0	T	0.02721	-1.1119	10	0.13470	T	0.59	-18.8687	0.4937	0.00568	0.214:0.1598:0.2486:0.3776	.	286;236	C9JIU8;O00584	.;RNT2_HUMAN	Q	198;236;286;236;236	ENSP00000424947:R198Q;ENSP00000426455:R236Q;ENSP00000422846:R236Q;ENSP00000426059:R236Q	ENSP00000424947:R198Q	R	-	2	0	RNASET2	167263130	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	-0.717000	0.04986	-0.367000	0.08052	-0.291000	0.09656	CGG		0.542	RNASET2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043089.2	NM_003730		14	275	0	0	0	1	0	14	275				
LIN54	132660	broad.mit.edu	37	4	83905831	83905831	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr4:83905831G>C	ENST00000340417.3	-	2	544	c.167C>G	c.(166-168)tCt>tGt	p.S56C	LIN54_ENST00000510557.1_Intron|LIN54_ENST00000442461.2_Intron|LIN54_ENST00000505397.1_Missense_Mutation_p.S56C|LIN54_ENST00000395282.2_Missense_Mutation_p.S56C|LIN54_ENST00000506560.1_Missense_Mutation_p.S56C|LIN54_ENST00000395283.2_Missense_Mutation_p.S56C|LIN54_ENST00000446851.2_Intron	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 DREAM MuvB core complex component	56					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)	p.S56C(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				CGTGGCTGTAGAGTCACCAGT	0.408																																						ENST00000340417.3																			1	Substitution - Missense(1)	p.S56C(1)	breast(1)	breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14						c.(166-168)tCt>tGt		lin-54 homolog (C. elegans)							235.0	219.0	224.0					4																	83905831		2203	4300	6503	SO:0001583	missense	132660				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr4:83905831G>C	BX537919	CCDS3599.1, CCDS47089.1, CCDS75157.1	4q21.22	2014-07-17	2014-07-17		ENSG00000189308	ENSG00000189308			25397	protein-coding gene	gene with protein product	"""CXC domain containing 1"""	613367	"""lin-54 homolog (C. elegans)"""			21498570	Standard	XM_005262749		Approved	MIP120, DKFZp686L1814, JC8.6, CXCDC1	uc003hnx.3	Q6MZP7	OTTHUMG00000130287	ENST00000340417.3:c.167C>G	4.37:g.83905831G>C	ENSP00000341947:p.Ser56Cys					LIN54_ENST00000446851.2_Intron|LIN54_ENST00000395282.2_Missense_Mutation_p.S56C|LIN54_ENST00000442461.2_Intron|LIN54_ENST00000510557.1_Intron|LIN54_ENST00000395283.2_Missense_Mutation_p.S56C|LIN54_ENST00000506560.1_Missense_Mutation_p.S56C|LIN54_ENST00000505397.1_Missense_Mutation_p.S56C	p.S56C	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN			2	544	-		Hepatocellular(203;0.114)	56					Q32M68|Q32M69|Q6N071|Q76B60	Missense_Mutation	SNP	ENST00000340417.3	37	c.167C>G	CCDS3599.1	.	.	.	.	.	.	.	.	.	.	G	9.494	1.101405	0.20632	.	.	ENSG00000189308	ENST00000340417;ENST00000395283;ENST00000395282;ENST00000506560;ENST00000505397	.	.	.	5.36	5.36	0.76844	.	0.600069	0.17466	N	0.173277	T	0.42562	0.1208	N	0.14661	0.345	0.80722	D	1	B;B	0.10296	0.003;0.0	B;B	0.06405	0.002;0.0	T	0.26950	-1.0088	9	0.44086	T	0.13	-10.6014	14.6567	0.68838	0.0:0.1452:0.8548:0.0	.	56;56	Q6MZP7-2;Q6MZP7	.;LIN54_HUMAN	C	56	.	ENSP00000341947:S56C	S	-	2	0	LIN54	84124855	1.000000	0.71417	0.998000	0.56505	0.062000	0.15995	4.430000	0.59907	2.505000	0.84491	0.655000	0.94253	TCT		0.408	LIN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252626.2	NM_194282		10	52	0	0	0	1	0	10	52				
RBM33	155435	broad.mit.edu	37	7	155538268	155538268	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr7:155538268A>T	ENST00000401878.3	+	14	3149	c.2951A>T	c.(2950-2952)aAg>aTg	p.K984M	RBM33_ENST00000341148.3_5'Flank	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	984							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		ATCAGCTCCAAGGTCAGGGTG	0.522																																						ENST00000401878.3																			0				breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27						c.(2950-2952)aAg>aTg		RNA binding motif protein 33							32.0	33.0	33.0					7																	155538268		2203	4300	6503	SO:0001583	missense	155435						nucleotide binding|RNA binding	g.chr7:155538268A>T	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"""RNA binding motif (RRM) containing"""	27223	protein-coding gene	gene with protein product			"""proline rich 8"""	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.2951A>T	7.37:g.155538268A>T	ENSP00000384160:p.Lys984Met						p.K984M	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)	14	3149	+	all_neural(206;0.101)	all_hematologic(28;0.0592)	984					A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Missense_Mutation	SNP	ENST00000401878.3	37	c.2951A>T	CCDS5941.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.6|22.6	4.310075|4.310075	0.81247|0.81247	.|.	.|.	ENSG00000184863|ENSG00000184863	ENST00000401878|ENST00000392761	T|.	0.68025|.	-0.3|.	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	0.000000|.	0.64402|.	D|.	0.000004|.	T|T	0.73040|0.73040	0.3536|0.3536	M|M	0.65498|0.65498	2.005|2.005	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	T|T	0.72246|0.72246	-0.4349|-0.4349	10|5	0.87932|.	D|.	0|.	.|.	16.1354|16.1354	0.81481|0.81481	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	701;984|.	B4DVQ2;Q96EV2|.	.;RBM33_HUMAN|.	M|W	984|756	ENSP00000384160:K984M|.	ENSP00000384160:K984M|.	K|R	+|+	2|1	0|2	RBM33|RBM33	155231029|155231029	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	8.424000|8.424000	0.90267|0.90267	2.207000|2.207000	0.71202|0.71202	0.533000|0.533000	0.62120|0.62120	AAG|AGG		0.522	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408		4	12	0	0	0	1	0	4	12				
USP34	9736	broad.mit.edu	37	2	61510333	61510333	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr2:61510333C>A	ENST00000398571.2	-	37	5021	c.4945G>T	c.(4945-4947)Gat>Tat	p.D1649Y		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1649					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.D1649H(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TGATCGCTATCAGCAAGGCTA	0.338																																						ENST00000398571.2																			1	Substitution - Missense(1)	p.D1649H(1)	lung(1)	autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(4945-4947)Gat>Tat		ubiquitin specific peptidase 34							90.0	86.0	87.0					2																	61510333		1859	4104	5963	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61510333C>A	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.4945G>T	2.37:g.61510333C>A	ENSP00000381577:p.Asp1649Tyr						p.D1649Y	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		37	5021	-			1649					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.4945G>T	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	C	32	5.135079	0.94517	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.03635	3.86	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.13157	0.0319	L	0.36672	1.1	0.80722	D	1	D	0.67145	0.996	D	0.72075	0.976	T	0.00770	-1.1573	10	0.66056	D	0.02	.	19.9059	0.97007	0.0:1.0:0.0:0.0	.	1649	Q70CQ2	UBP34_HUMAN	Y	1497;1497;1649	ENSP00000381577:D1649Y	ENSP00000263989:D1497Y	D	-	1	0	USP34	61363837	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.693000	0.91896	0.655000	0.94253	GAT		0.338	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			4	24	1	0	1.024e-07	1	1.09399e-07	4	24				
ARID1A	8289	broad.mit.edu	37	1	27099905	27099905	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:27099905C>T	ENST00000324856.7	+	15	4155	c.3784C>T	c.(3784-3786)Cgt>Tgt	p.R1262C	ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000457599.2_Missense_Mutation_p.R1262C|ARID1A_ENST00000374152.2_Missense_Mutation_p.R879C	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1262					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCCCTACAGTCGTGCTGCCGG	0.592			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(3784-3786)Cgt>Tgt		AT rich interactive domain 1A (SWI-like)							64.0	61.0	62.0					1																	27099905		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27099905C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3784C>T	1.37:g.27099905C>T	ENSP00000320485:p.Arg1262Cys					ARID1A_ENST00000457599.2_Missense_Mutation_p.R1262C|ARID1A_ENST00000374152.2_Missense_Mutation_p.R879C|ARID1A_ENST00000540690.1_5'UTR	p.R1262C	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	15	4155	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1262					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.3784C>T	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.00|15.00	2.702186|2.702186	0.48307|0.48307	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152|ENST00000430799	T;T;T|T	0.03441|0.03553	4.07;3.96;3.93|3.89	5.02|5.02	5.02|5.02	0.67125|0.67125	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.12178|0.12178	0.0296|0.0296	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.999;1.0;1.0;1.0|.	P;P;P;P|.	0.60682|.	0.804;0.759;0.878;0.759|.	T|T	0.00303|0.00303	-1.1833|-1.1833	10|7	0.56958|0.87932	D|D	0.05|0	-0.9968|-0.9968	18.5413|18.5413	0.91029|0.91029	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	879;1262;1262;915|.	O14497-3;O14497;O14497-2;Q4LE49|.	.;ARI1A_HUMAN;.;.|.	C|L	1262;1262;879|158	ENSP00000320485:R1262C;ENSP00000387636:R1262C;ENSP00000363267:R879C|ENSP00000390317:S158L	ENSP00000320485:R1262C|ENSP00000390317:S158L	R|S	+|+	1|2	0|0	ARID1A|ARID1A	26972492|26972492	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	4.352000|4.352000	0.59404|0.59404	2.627000|2.627000	0.88993|0.88993	0.655000|0.655000	0.94253|0.94253	CGT|TCG		0.592	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		6	46	0	0	0	1	0	6	46				
OR2G2	81470	broad.mit.edu	37	1	247752053	247752053	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:247752053G>A	ENST00000320065.1	+	1	392	c.392G>A	c.(391-393)cGt>cAt	p.R131H	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	131						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R131H(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GCTGTCTGCCGTCCTCTCCAT	0.552																																						ENST00000320065.1																			1	Substitution - Missense(1)	p.R131H(1)	large_intestine(1)	endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(391-393)cGt>cAt		olfactory receptor, family 2, subfamily G, member 2							288.0	236.0	253.0					1																	247752053		2203	4300	6503	SO:0001583	missense	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247752053G>A	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.392G>A	1.37:g.247752053G>A	ENSP00000326349:p.Arg131His					RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	p.R131H	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	392	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		131					Q5JQT2|Q6IEZ0	Missense_Mutation	SNP	ENST00000320065.1	37	c.392G>A	CCDS31092.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.409306	0.25378	.	.	ENSG00000177489	ENST00000320065	T	0.00554	6.64	4.29	2.35	0.29111	GPCR, rhodopsin-like superfamily (1);	0.250332	0.21722	U	0.070115	T	0.00412	0.0013	L	0.28694	0.88	0.09310	N	1	B	0.21821	0.061	B	0.15870	0.014	T	0.48433	-0.9036	10	0.59425	D	0.04	.	4.8711	0.13633	0.2013:0.1753:0.6234:0.0	.	131	Q8NGZ5	OR2G2_HUMAN	H	131	ENSP00000326349:R131H	ENSP00000326349:R131H	R	+	2	0	OR2G2	245818676	0.000000	0.05858	0.153000	0.22517	0.699000	0.40488	-0.025000	0.12413	1.006000	0.39211	0.591000	0.81541	CGT		0.552	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			21	131	0	0	0	1	0	21	131				
IKZF2	22807	broad.mit.edu	37	2	213921699	213921699	+	Silent	SNP	G	G	A	rs374835918		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr2:213921699G>A	ENST00000434687.1	-	5	573	c.264C>T	c.(262-264)agC>agT	p.S88S	IKZF2_ENST00000342002.2_Silent_p.S94S|IKZF2_ENST00000413091.3_Silent_p.S88S|IKZF2_ENST00000457361.1_Silent_p.S88S|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000451136.2_Silent_p.S88S|IKZF2_ENST00000421754.2_Silent_p.S88S|IKZF2_ENST00000374319.4_Silent_p.S88S			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	88					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CAGCCACCTCGCTGCTCTCAA	0.527																																						ENST00000457361.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(262-264)agC>agT		IKAROS family zinc finger 2 (Helios)		G	,	0,4406		0,0,2203	122.0	110.0	114.0		264,264	3.9	1.0	2		114	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	IKZF2	NM_001079526.1,NM_016260.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	88/501,88/527	213921699	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:213921699G>A	AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13177	protein-coding gene	gene with protein product		606234	"""zinc finger protein, subfamily 1A, 2 (Helios)"""	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.264C>T	2.37:g.213921699G>A						IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000374319.4_Silent_p.S88S|IKZF2_ENST00000434687.1_Silent_p.S88S|IKZF2_ENST00000451136.2_Silent_p.S88S|IKZF2_ENST00000421754.2_Silent_p.S88S|IKZF2_ENST00000342002.2_Silent_p.S94S|IKZF2_ENST00000413091.3_Silent_p.S88S	p.S88S	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)	4	432	-		Esophageal squamous(248;0.0559)|Renal(323;0.218)	88					Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Silent	SNP	ENST00000434687.1	37	c.264C>T	CCDS2395.1																																																																																				0.527	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	NM_016260		14	62	0	0	0	1	0	14	62				
IPO8	10526	broad.mit.edu	37	12	30792496	30792496	+	Silent	SNP	A	A	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr12:30792496A>G	ENST00000256079.4	-	21	2780	c.2442T>C	c.(2440-2442)acT>acC	p.T814T	IPO8_ENST00000544829.1_Silent_p.T609T	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	814					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TAAACTGTACAGTGATAGGTC	0.383																																						ENST00000256079.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52						c.(2440-2442)acT>acC		importin 8							155.0	143.0	147.0					12																	30792496		2203	4300	6503	SO:0001819	synonymous_variant	10526				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	g.chr12:30792496A>G	U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.2442T>C	12.37:g.30792496A>G						IPO8_ENST00000544829.1_Silent_p.T609T	p.T814T	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN			21	2780	-	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		814					B7Z7M3	Silent	SNP	ENST00000256079.4	37	c.2442T>C	CCDS8719.1																																																																																				0.383	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390		18	47	0	0	0	1	0	18	47				
FRMD1	79981	broad.mit.edu	37	6	168475980	168475980	+	Silent	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:168475980C>T	ENST00000283309.6	-	2	313	c.249G>A	c.(247-249)gtG>gtA	p.V83V	FRMD1_ENST00000440994.2_Silent_p.V15V	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	83	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CCACGTTGCACACTTGCTGGA	0.632																																					GBM(50;8 1094 9538 34399)|Ovarian(80;676 1857 8675 49015)	ENST00000283309.6																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19						c.(247-249)gtG>gtA		FERM domain containing 1							84.0	78.0	80.0					6																	168475980		2203	4300	6503	SO:0001819	synonymous_variant	79981					cytoskeleton	binding	g.chr6:168475980C>T		CCDS5306.1, CCDS47518.1	6q27	2008-10-23			ENSG00000153303	ENSG00000153303			21240	protein-coding gene	gene with protein product							Standard	NM_001122841		Approved	FLJ00181, DKFZp434O0117, FLJ40260, FLJ22615, bA164L23.1	uc003qwo.4	Q8N878	OTTHUMG00000016037	ENST00000283309.6:c.249G>A	6.37:g.168475980C>T						FRMD1_ENST00000440994.2_Silent_p.V15V	p.V83V	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	2	313	-		Breast(66;1.07e-05)|Ovarian(120;0.0728)	83			FERM.		B2RNV8|B3KUM6|Q5SZU7|Q9UFB0	Silent	SNP	ENST00000283309.6	37	c.249G>A	CCDS5306.1																																																																																				0.632	FRMD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362513.2	NM_024919		13	89	0	0	0	1	0	13	89				
ZNF831	128611	broad.mit.edu	37	20	57766863	57766863	+	Silent	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr20:57766863C>G	ENST00000371030.2	+	1	789	c.789C>G	c.(787-789)acC>acG	p.T263T		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	263							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ATGTGAGGACCGAAGCTGCTC	0.657																																						ENST00000371030.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(787-789)acC>acG		zinc finger protein 831							52.0	60.0	57.0					20																	57766863		2016	4173	6189	SO:0001819	synonymous_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57766863C>G	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.789C>G	20.37:g.57766863C>G							p.T263T	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	789	+	all_lung(29;0.0085)		263					Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	c.789C>G	CCDS42894.1																																																																																				0.657	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		17	62	0	0	0	1	0	17	62				
LPCAT1	79888	broad.mit.edu	37	5	1463913	1463913	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr5:1463913G>A	ENST00000283415.3	-	14	1590	c.1458C>T	c.(1456-1458)ttC>ttT	p.F486F	LPCAT1_ENST00000503252.1_5'UTR	NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	486	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|negative regulation of phosphatidylcholine biosynthetic process (GO:2001246)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein catabolic process (GO:0045732)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|surfactant homeostasis (GO:0043129)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphocholine O-acyltransferase activity (GO:0047159)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|1-alkylglycerophosphocholine O-acyltransferase activity (GO:0047191)|calcium ion binding (GO:0005509)	p.F486F(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		ATTCCTCTGCGAAGGCAGGGT	0.527																																						ENST00000283415.3																			1	Substitution - coding silent(1)	p.F486F(1)	large_intestine(1)	breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1456-1458)ttC>ttT		lysophosphatidylcholine acyltransferase 1							124.0	120.0	122.0					5																	1463913		2203	4300	6503	SO:0001819	synonymous_variant	79888				phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding	g.chr5:1463913G>A	BC020166	CCDS3864.1	5p15.33	2013-01-10	2007-12-17	2007-12-17	ENSG00000153395	ENSG00000153395		"""EF-hand domain containing"""	25718	protein-coding gene	gene with protein product		610472	"""acyltransferase like 2"""	AYTL2		8619474, 16704971	Standard	NM_024830		Approved	FLJ12443	uc003jcm.3	Q8NF37	OTTHUMG00000131017	ENST00000283415.3:c.1458C>T	5.37:g.1463913G>A						LPCAT1_ENST00000503252.1_5'UTR	p.F486F	NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)	14	1590	-			486			EF-hand 2.		Q1HAQ1|Q7Z4G6|Q8N3U7|Q8WUL8|Q9GZW6	Silent	SNP	ENST00000283415.3	37	c.1458C>T	CCDS3864.1																																																																																				0.527	LPCAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304032.1	NM_024830		24	135	0	0	0	1	0	24	135				
NOS1AP	9722	broad.mit.edu	37	1	162302876	162302876	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:162302876C>A	ENST00000361897.5	+	5	816	c.414C>A	c.(412-414)agC>agA	p.S138R	NOS1AP_ENST00000530878.1_Missense_Mutation_p.S133R	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	138	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			ATGGTGCCAGCAATATCTTCA	0.433																																						ENST00000361897.5																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32						c.(412-414)agC>agA		nitric oxide synthase 1 (neuronal) adaptor protein							119.0	110.0	113.0					1																	162302876		2203	4300	6503	SO:0001583	missense	9722				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	g.chr1:162302876C>A	AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.414C>A	1.37:g.162302876C>A	ENSP00000355133:p.Ser138Arg					NOS1AP_ENST00000530878.1_Missense_Mutation_p.S133R	p.S138R	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0537)		5	816	+	all_hematologic(112;0.203)		138			PID.		B7ZLF5|O43564|Q3T551|Q5VU95	Missense_Mutation	SNP	ENST00000361897.5	37	c.414C>A	CCDS1237.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.420378	0.83559	.	.	ENSG00000198929	ENST00000530878;ENST00000361897	T;T	0.20598	2.06;2.06	5.56	5.56	0.83823	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.37128	0.0992	M	0.81802	2.56	.	.	.	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.77004	0.989;0.988;0.989	T	0.43540	-0.9385	9	0.87932	D	0	.	10.4628	0.44590	0.0:0.9119:0.0:0.0881	.	133;133;138	E9PSG0;B7ZLF5;O75052	.;.;CAPON_HUMAN	R	133;138	ENSP00000431586:S133R;ENSP00000355133:S138R	ENSP00000355133:S138R	S	+	3	2	NOS1AP	160569500	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.198000	0.42705	2.601000	0.87937	0.655000	0.94253	AGC		0.433	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2	NM_014697		6	30	1	0	0.0215528	1	0.021847	6	30				
UGGT2	55757	broad.mit.edu	37	13	96505887	96505887	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr13:96505887C>G	ENST00000376747.3	-	36	4264	c.4194G>C	c.(4192-4194)aaG>aaC	p.K1398N		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1398	Glucosyltransferase.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TCCTGAACTTCTTGAGATCCA	0.388																																						ENST00000376747.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						c.(4192-4194)aaG>aaC		UDP-glucose glycoprotein glucosyltransferase 2							97.0	89.0	92.0					13																	96505887		2203	4300	6503	SO:0001583	missense	55757				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	g.chr13:96505887C>G	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.4194G>C	13.37:g.96505887C>G	ENSP00000365938:p.Lys1398Asn						p.K1398N	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN			36	4264	-			1398			Glucosyltransferase.		A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	c.4194G>C	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318488	0.81469	.	.	ENSG00000102595	ENST00000376747	T	0.46451	0.87	5.4	5.4	0.78164	.	0.049222	0.85682	D	0.000000	T	0.56441	0.1985	L	0.57536	1.79	0.80722	D	1	D	0.61080	0.989	D	0.64595	0.927	T	0.52586	-0.8556	10	0.36615	T	0.2	-7.3202	12.5162	0.56034	0.0:0.9235:0.0:0.0765	.	1398	Q9NYU1	UGGG2_HUMAN	N	1398	ENSP00000365938:K1398N	ENSP00000365938:K1398N	K	-	3	2	UGGT2	95303888	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.688000	0.54699	2.528000	0.85240	0.655000	0.94253	AAG		0.388	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		6	12	0	0	0	1	0	6	12				
ZBTB40	9923	broad.mit.edu	37	1	22850916	22850916	+	Silent	SNP	C	C	T	rs139786086	byFrequency	TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:22850916C>T	ENST00000375647.4	+	17	3711	c.3504C>T	c.(3502-3504)gcC>gcT	p.A1168A	ZBTB40_ENST00000404138.1_Silent_p.A1168A|ZBTB40_ENST00000374651.4_Silent_p.A1056A	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	1168					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		AAACCCAGGCCGCAGCCTCAC	0.552																																						ENST00000404138.1																			0				endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(3502-3504)gcC>gcT		zinc finger and BTB domain containing 40		C	,	3,4403	6.2+/-15.9	0,3,2200	61.0	62.0	61.0		3504,3504	-3.0	0.8	1	dbSNP_134	61	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ZBTB40	NM_001083621.1,NM_014870.3	,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,	1168/1240,1168/1240	22850916	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	9923				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:22850916C>T	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.3504C>T	1.37:g.22850916C>T						ZBTB40_ENST00000375647.4_Silent_p.A1168A|ZBTB40_ENST00000374651.4_Silent_p.A1056A	p.A1168A	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	18	4015	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	1168					O75066|Q5TFU5|Q8N1R1	Silent	SNP	ENST00000375647.4	37	c.3504C>T	CCDS224.1																																																																																				0.552	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		23	42	0	0	0	1	0	23	42				
SSX6	280657	broad.mit.edu	37	X	47972622	47972622	+	IGR	SNP	G	G	A	rs138080210		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chrX:47972622G>A								snoU13 (31383 upstream) : SSX6 (3843 downstream)																							GAATCATCCCGAAGGTGAGTA	0.423													.|||	1	0.000264901	0.0	0.0	3775	,	,		15131	0.0		0.001	False		,,,				2504	0.0					ENST00000319275.3																			0				large_intestine(6)|lung(4)|skin(2)|stomach(1)	13						c.(31-33)ccG>ccA				G		0,2618		0,0,1114,390	122.0	131.0	128.0		327	-3.0	0.0	X	dbSNP_134	128	1,4330		0,1,1627,1075	no	coding-synonymous	LOC100509575	NM_001205103.1		0,1,2741,1465	AA,AG,GG,G		0.0231,0.0,0.0144		109/132	47972622	1,6948	1504	2703	4207	SO:0001628	intergenic_variant	280657							g.chrX:47972622G>A																													X.37:g.47972622G>A						SSX6_ENST00000376932.2_Silent_p.P109P	p.P11P							5	399	+									Silent	SNP		37	c.33G>A																																																																																				0	0.423									22	54	0	0	0	1	0	22	54				
KLHL30	377007	broad.mit.edu	37	2	239049882	239049882	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr2:239049882G>C	ENST00000409223.1	+	2	594	c.487G>C	c.(487-489)Gag>Cag	p.E163Q	KLHL30_ENST00000305959.4_Missense_Mutation_p.E145Q			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	163	BACK.									lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		AGAGAACTTTGAGGCTGTGGC	0.652																																						ENST00000409223.1																			0				lung(4)	4						c.(487-489)Gag>Cag		kelch-like family member 30							21.0	26.0	24.0					2																	239049882		2140	4249	6389	SO:0001583	missense	377007							g.chr2:239049882G>C		CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"""Kelch-like"", ""BTB/POZ domain containing"""	24770	protein-coding gene	gene with protein product			"""kelch-like 30 (Drosophila)"""				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.487G>C	2.37:g.239049882G>C	ENSP00000386389:p.Glu163Gln					KLHL30_ENST00000305959.4_Missense_Mutation_p.E145Q	p.E163Q			Q0D2K2	KLH30_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	2	594	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	163			BACK.		Q6ZUS1	Missense_Mutation	SNP	ENST00000409223.1	37	c.487G>C	CCDS46555.2	.	.	.	.	.	.	.	.	.	.	g	22.4	4.290611	0.80914	.	.	ENSG00000168427	ENST00000409223;ENST00000305959	T;T	0.69175	-0.38;-0.38	5.82	5.82	0.92795	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.77103	0.4081	L	0.49256	1.55	0.53005	D	0.999964	D	0.89917	1.0	D	0.91635	0.999	T	0.69335	-0.5172	10	0.14252	T	0.57	.	18.862	0.92276	0.0:0.0:1.0:0.0	.	163	Q0D2K2	KLH30_HUMAN	Q	163;145	ENSP00000386389:E163Q;ENSP00000302386:E145Q	ENSP00000302386:E145Q	E	+	1	0	KLHL30	238714621	1.000000	0.71417	0.988000	0.46212	0.954000	0.61252	9.589000	0.98235	2.753000	0.94483	0.651000	0.88453	GAG		0.652	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328518.1	NM_198582		5	22	0	0	0	1	0	5	22				
ZNF878	729747	broad.mit.edu	37	19	12154831	12154831	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr19:12154831G>T	ENST00000547628.1	-	4	1522	c.1385C>A	c.(1384-1386)tCt>tAt	p.S462Y	CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000602107.1_Missense_Mutation_p.S509Y|CTD-2006C1.2_ENST00000591898.1_RNA	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	462					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AGAATTAGAAGAAATGAAGGC	0.388																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(1525-1527)tCt>tAt		zinc finger protein 878							53.0	60.0	57.0					19																	12154831		2189	4293	6482	SO:0001583	missense	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12154831G>T		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.1385C>A	19.37:g.12154831G>T	ENSP00000447931:p.Ser462Tyr					CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.S462Y|CTD-2006C1.10_ENST00000547473.1_Intron	p.S509Y			C9JN71	ZN878_HUMAN			5	1525	-			462						Missense_Mutation	SNP	ENST00000547628.1	37	c.1526C>A	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.469536	0.01044	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.02067	4.47	1.3	0.00835	0.14074	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01905	0.0060	L	0.49126	1.545	0.09310	N	1	B	0.23128	0.08	B	0.24269	0.052	T	0.49606	-0.8922	9	0.02654	T	1	.	2.7175	0.05191	0.1843:0.0:0.3929:0.4228	.	462	C9JN71	ZN878_HUMAN	Y	462;509	ENSP00000447931:S462Y	ENSP00000447931:S462Y	S	-	2	0	AC022415.4;ZNF878	12015831	0.000000	0.05858	0.002000	0.10522	0.901000	0.52897	-1.604000	0.02076	-0.149000	0.11215	0.313000	0.20887	TCT		0.388	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		5	25	1	0	0.014758	1	0.0150107	5	25				
TOP1MT	116447	broad.mit.edu	37	8	144398195	144398195	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr8:144398195T>C	ENST00000329245.4	-	11	1466	c.1432A>G	c.(1432-1434)Aag>Gag	p.K478E	TOP1MT_ENST00000523676.1_Missense_Mutation_p.K380E|TOP1MT_ENST00000519148.1_Missense_Mutation_p.K380E|TOP1MT_ENST00000521193.1_Missense_Mutation_p.K380E|AC087793.1_ENST00000585120.1_RNA	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	478					DNA replication (GO:0006260)|DNA topological change (GO:0006265)	chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	TGCATCGACTTCTCGAACGTA	0.607																																						ENST00000523676.1																			0				endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23						c.(1138-1140)Aag>Gag		topoisomerase (DNA) I, mitochondrial	Irinotecan(DB00762)|Topotecan(DB01030)						168.0	157.0	161.0					8																	144398195		2203	4300	6503	SO:0001583	missense	116447				DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity	g.chr8:144398195T>C	AF349018	CCDS6400.1, CCDS59115.1	8q24.3	2006-04-12				ENSG00000184428			29787	protein-coding gene	gene with protein product		606387				11526219	Standard	NM_052963		Approved		uc003yxz.4	Q969P6		ENST00000329245.4:c.1432A>G	8.37:g.144398195T>C	ENSP00000328835:p.Lys478Glu					TOP1MT_ENST00000329245.4_Missense_Mutation_p.K478E|TOP1MT_ENST00000521193.1_Missense_Mutation_p.K380E|TOP1MT_ENST00000519148.1_Missense_Mutation_p.K380E	p.K380E			Q969P6	TOP1M_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		12	1543	-	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		478					B7ZAR5|E7ES89|Q86ST4|Q86V82	Missense_Mutation	SNP	ENST00000329245.4	37	c.1138A>G	CCDS6400.1	.	.	.	.	.	.	.	.	.	.	T	6.427	0.446843	0.12223	.	.	ENSG00000184428	ENST00000329245;ENST00000521193;ENST00000519148;ENST00000523676	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	3.37	2.13	0.27403	DNA breaking-rejoining enzyme, catalytic core (1);DNA topoisomerase I, C-terminal, eukaryotic-type (1);DNA topoisomerase I, catalytic core, alpha/beta subdomain, eukaryotic-type (1);DNA topoisomerases I, dispensable insert, eukaryotic-type (1);DNA topoisomerase I, catalytic core, eukaryotic-type (1);	0.462231	0.17337	N	0.177893	T	0.37046	0.0989	L	0.49571	1.57	0.53688	D	0.999976	B;B	0.19445	0.036;0.007	B;B	0.18263	0.021;0.016	T	0.08638	-1.0712	10	0.20519	T	0.43	-12.462	8.0556	0.30604	0.0:0.1037:0.0:0.8963	.	273;478	E7ESI1;Q969P6	.;TOP1M_HUMAN	E	478;380;380;380	ENSP00000328835:K478E;ENSP00000428369:K380E;ENSP00000429169:K380E;ENSP00000429181:K380E	ENSP00000328835:K478E	K	-	1	0	TOP1MT	144469570	1.000000	0.71417	0.020000	0.16555	0.260000	0.26232	4.904000	0.63279	0.276000	0.22118	0.496000	0.49642	AAG		0.607	TOP1MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381247.3	NM_052963		17	143	0	0	0	1	0	17	143				
ZNF396	252884	broad.mit.edu	37	18	32949319	32949319	+	Nonsense_Mutation	SNP	G	G	A	rs369731655		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr18:32949319G>A	ENST00000589332.1	-	4	999	c.868C>T	c.(868-870)Cga>Tga	p.R290*	ZNF396_ENST00000306346.1_Nonsense_Mutation_p.R290*			Q96N95	ZN396_HUMAN	zinc finger protein 396	290					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						ATTGCGCTTCGGCTGAATGCC	0.448																																						ENST00000306346.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						c.(868-870)Cga>Tga		zinc finger protein 396		G	stop/ARG	0,4406		0,0,2203	117.0	113.0	114.0		868	0.5	0.3	18		114	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	ZNF396	NM_145756.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		290/334	32949319	1,13005	2203	4300	6503	SO:0001587	stop_gained	252884				viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:32949319G>A	AK055775	CCDS11913.1	18p12	2013-01-09			ENSG00000186496	ENSG00000186496		"""-"", ""Zinc fingers, C2H2-type"""	18824	protein-coding gene	gene with protein product		609600					Standard	NM_145756		Approved	ZSCAN14, FLJ31213	uc010xcf.1	Q96N95	OTTHUMG00000132562	ENST00000589332.1:c.868C>T	18.37:g.32949319G>A	ENSP00000466500:p.Arg290*					ZNF396_ENST00000589332.1_Nonsense_Mutation_p.R290*	p.R290*	NM_145756.2	NP_665699.1	Q96N95	ZN396_HUMAN			4	999	-			290					A1L3V0|Q8NF98|Q8TD80	Nonsense_Mutation	SNP	ENST00000589332.1	37	c.868C>T		.	.	.	.	.	.	.	.	.	.	G	13.33	2.205733	0.39003	0.0	1.16E-4	ENSG00000186496	ENST00000306346;ENST00000399057	.	.	.	3.4	0.484	0.16825	.	0.275955	0.18808	U	0.130584	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.5357	0.12028	0.2094:0.0:0.6149:0.1757	.	.	.	.	X	290	.	ENSP00000302310:R290X	R	-	1	2	ZNF396	31203317	0.000000	0.05858	0.309000	0.25155	0.122000	0.20287	-0.496000	0.06436	0.081000	0.16988	-0.133000	0.14855	CGA		0.448	ZNF396-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255766.1	NM_145756		10	32	0	0	0	1	0	10	32				
ARSF	416	broad.mit.edu	37	X	3002435	3002435	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chrX:3002435G>C	ENST00000381127.1	+	6	779	c.558G>C	c.(556-558)gaG>gaC	p.E186D	ARSF_ENST00000359361.2_Missense_Mutation_p.E186D|ARSF_ENST00000537104.1_Missense_Mutation_p.E186D	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	186					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TAGCCTTTGAGAGTCAGCTCT	0.527																																						ENST00000381127.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38						c.(556-558)gaG>gaC		arylsulfatase F							146.0	111.0	123.0					X																	3002435		2203	4300	6503	SO:0001583	missense	416					extracellular region	arylsulfatase activity|metal ion binding	g.chrX:3002435G>C	X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"""Arylsulfatase family"""	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.558G>C	X.37:g.3002435G>C	ENSP00000370519:p.Glu186Asp					ARSF_ENST00000359361.2_Missense_Mutation_p.E186D|ARSF_ENST00000537104.1_Missense_Mutation_p.E186D	p.E186D	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN			6	779	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	186					Q8TCC5	Missense_Mutation	SNP	ENST00000381127.1	37	c.558G>C	CCDS14123.1	.	.	.	.	.	.	.	.	.	.	G	9.978	1.227385	0.22542	.	.	ENSG00000062096	ENST00000381127;ENST00000537104;ENST00000359361	D;D;D	0.98512	-4.97;-4.97;-4.97	3.44	-3.06	0.05379	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	1.668100	0.03508	U	0.219088	D	0.94565	0.8249	L	0.35341	1.055	0.09310	N	1	B	0.29571	0.249	B	0.36030	0.216	D	0.90138	0.4211	10	0.13108	T	0.6	.	0.7709	0.01024	0.3107:0.1214:0.3207:0.2472	.	186	P54793	ARSF_HUMAN	D	186	ENSP00000370519:E186D;ENSP00000445594:E186D;ENSP00000352319:E186D	ENSP00000352319:E186D	E	+	3	2	ARSF	3012435	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.344000	0.19962	-0.440000	0.07211	-0.337000	0.08149	GAG		0.527	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1			12	65	0	0	0	1	0	12	65				
GPATCH3	63906	broad.mit.edu	37	1	27226714	27226714	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:27226714C>T	ENST00000361720.5	-	1	243	c.220G>A	c.(220-222)Gag>Aag	p.E74K		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	74							nucleic acid binding (GO:0003676)			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		AGCTGGCCCTCAGCGGCTGGG	0.642																																						ENST00000361720.5																			0				endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15						c.(220-222)Gag>Aag		G patch domain containing 3							39.0	43.0	42.0					1																	27226714		2203	4300	6503	SO:0001583	missense	63906					intracellular	nucleic acid binding	g.chr1:27226714C>T	BC007767	CCDS290.1	1p35.3-p35.1	2013-01-28		2006-12-13	ENSG00000198746	ENSG00000198746		"""G patch domain containing"""	25720	protein-coding gene	gene with protein product				GPATC3			Standard	NM_022078		Approved	FLJ12455	uc001bne.3	Q96I76	OTTHUMG00000004229	ENST00000361720.5:c.220G>A	1.37:g.27226714C>T	ENSP00000354645:p.Glu74Lys						p.E74K	NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)	1	243	-		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	74					Q5JYH2|Q8NDJ2|Q9H9Z3	Missense_Mutation	SNP	ENST00000361720.5	37	c.220G>A	CCDS290.1	.	.	.	.	.	.	.	.	.	.	C	2.863	-0.235685	0.05944	.	.	ENSG00000198746	ENST00000361720;ENST00000536641	T	0.30714	1.52	3.76	3.76	0.43208	.	0.737772	0.11715	N	0.536558	T	0.22360	0.0539	L	0.29908	0.895	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.07868	-1.0750	10	0.37606	T	0.19	-7.6611	8.8328	0.35093	0.224:0.776:0.0:0.0	.	74	Q96I76	GPTC3_HUMAN	K	74	ENSP00000354645:E74K	ENSP00000354645:E74K	E	-	1	0	GPATCH3	27099301	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	0.444000	0.21661	2.062000	0.61559	0.655000	0.94253	GAG		0.642	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012181.1	NM_022078		18	66	0	0	0	1	0	18	66				
SYNE2	23224	broad.mit.edu	37	14	64675494	64675494	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr14:64675494G>A	ENST00000344113.4	+	101	18432	c.18220G>A	c.(18220-18222)Gaa>Aaa	p.E6074K	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Missense_Mutation_p.E6036K|SYNE2_ENST00000555002.1_Missense_Mutation_p.E2708K|SYNE2_ENST00000358025.3_Missense_Mutation_p.E6074K|SYNE2_ENST00000357395.3_Missense_Mutation_p.E2459K|SYNE2_ENST00000394768.2_Missense_Mutation_p.E2459K|SYNE2_ENST00000555022.1_5'UTR|SYNE2_ENST00000554805.1_5'Flank	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6074					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GCGAGATATTGAACAACACAG	0.517																																						ENST00000357395.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(7375-7377)Gaa>Aaa		spectrin repeat containing, nuclear envelope 2							117.0	101.0	106.0					14																	64675494		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64675494G>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.18220G>A	14.37:g.64675494G>A	ENSP00000341781:p.Glu6074Lys					SYNE2_ENST00000394768.2_Missense_Mutation_p.E2459K|SYNE2_ENST00000344113.4_Missense_Mutation_p.E6074K|SYNE2_ENST00000555002.1_Missense_Mutation_p.E2708K|SYNE2_ENST00000554584.1_Missense_Mutation_p.E6036K|SYNE2_ENST00000358025.3_Missense_Mutation_p.E6074K|SYNE2_ENST00000555022.1_5'UTR|ESR2_ENST00000542956.1_Intron	p.E2459K			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	102	18519	+			6074					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.7375G>A	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.272219	0.59649	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000556906	T;T;T;T;T;T;T	0.61392	0.73;0.11;0.73;0.73;0.11;0.11;0.11	5.5	5.5	0.81552	.	0.000000	0.49305	D	0.000160	T	0.80037	0.4550	M	0.84846	2.72	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;1.0;0.999;1.0	D;D;D;D;D	0.91635	0.999;0.979;0.998;0.997;0.994	T	0.82476	-0.0438	10	0.66056	D	0.02	.	19.4052	0.94644	0.0:0.0:1.0:0.0	.	2459;462;6036;6074;6074	Q8WXH0-7;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;SYNE2_HUMAN;.	K	6074;2459;6074;6036;6042;2708;2459;44	ENSP00000350719:E6074K;ENSP00000349969:E2459K;ENSP00000341781:E6074K;ENSP00000452570:E6036K;ENSP00000450831:E2708K;ENSP00000378249:E2459K;ENSP00000452298:E44K	ENSP00000261678:E6042K	E	+	1	0	SYNE2	63745247	1.000000	0.71417	0.389000	0.26208	0.716000	0.41182	9.824000	0.99380	2.600000	0.87896	0.563000	0.77884	GAA		0.517	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		15	40	0	0	0	1	0	15	40				
TUBB1	81027	broad.mit.edu	37	20	57599431	57599431	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr20:57599431T>C	ENST00000217133.1	+	4	1218	c.949T>C	c.(949-951)Ttc>Ctc	p.F317L		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	317					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	GGCCTGCATTTTCCGGGGCAA	0.597																																						ENST00000217133.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16						c.(949-951)Ttc>Ctc		tubulin, beta 1 class VI	Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)						58.0	49.0	52.0					20																	57599431		2203	4300	6503	SO:0001583	missense	81027				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity	g.chr20:57599431T>C	AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162		"""Tubulins"""	16257	protein-coding gene	gene with protein product	"""class VI beta-tubulin"""	612901	"""tubulin, beta 1"""				Standard	NM_030773		Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.949T>C	20.37:g.57599431T>C	ENSP00000217133:p.Phe317Leu						p.F317L	NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	Colorectal(105;0.109)		4	1218	+	all_lung(29;0.00711)		317						Missense_Mutation	SNP	ENST00000217133.1	37	c.949T>C	CCDS13475.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.882745	0.91740	.	.	ENSG00000101162	ENST00000217133	T	0.81163	-1.46	5.34	5.34	0.76211	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.042833	0.85682	D	0.000000	D	0.89178	0.6641	H	0.97516	4.02	0.80722	D	1	P	0.50943	0.94	P	0.45946	0.498	D	0.92694	0.6169	10	0.87932	D	0	.	14.4727	0.67526	0.0:0.0:0.0:1.0	.	317	Q9H4B7	TBB1_HUMAN	L	317	ENSP00000217133:F317L	ENSP00000217133:F317L	F	+	1	0	TUBB1	57032826	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.040000	0.89188	2.028000	0.59812	0.459000	0.35465	TTC		0.597	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079903.1	NM_030773		5	54	0	0	0	1	0	5	54				
LAMB4	22798	broad.mit.edu	37	7	107707040	107707040	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr7:107707040G>C	ENST00000388781.3	-	20	2535	c.2452C>G	c.(2452-2454)Cac>Gac	p.H818D	LAMB4_ENST00000205386.4_Missense_Mutation_p.H818D|LAMB4_ENST00000388780.3_Missense_Mutation_p.H818D	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	818	Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GGATGGCAGTGACATGCTGGA	0.527																																						ENST00000388781.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						c.(2452-2454)Cac>Gac		laminin, beta 4							36.0	34.0	35.0					7																	107707040		2203	4300	6503	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107707040G>C	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.2452C>G	7.37:g.107707040G>C	ENSP00000373433:p.His818Asp					LAMB4_ENST00000388780.3_Missense_Mutation_p.H818D|LAMB4_ENST00000205386.4_Missense_Mutation_p.H818D	p.H818D	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN			20	2535	-			818			Laminin EGF-like 7.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.2452C>G	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	G	7.034	0.561284	0.13498	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780	T;T;T	0.59772	0.24;0.24;0.24	4.98	1.91	0.25777	EGF-like, laminin (4);	0.762999	0.11520	N	0.555806	T	0.19604	0.0471	N	0.00462	-1.47	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.36744	-0.9735	10	0.02654	T	1	.	10.5631	0.45156	0.0:0.5693:0.3115:0.1192	.	818	A4D0S4	LAMB4_HUMAN	D	818	ENSP00000205386:H818D;ENSP00000373433:H818D;ENSP00000373432:H818D	ENSP00000205386:H818D	H	-	1	0	LAMB4	107494276	0.998000	0.40836	1.000000	0.80357	0.947000	0.59692	0.699000	0.25586	0.638000	0.30545	0.563000	0.77884	CAC		0.527	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		3	16	0	0	0	1	0	3	16				
ERICH3	127254	broad.mit.edu	37	1	75055746	75055746	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:75055746G>T	ENST00000326665.5	-	12	1963	c.1745C>A	c.(1744-1746)tCa>tAa	p.S582*	C1orf173_ENST00000420661.2_Nonsense_Mutation_p.S385*|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		582	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GGATGAGGTTGATGAAGCAGT	0.383																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(1744-1746)tCa>tAa		chromosome 1 open reading frame 173							36.0	32.0	34.0					1																	75055746		2203	4300	6503	SO:0001587	stop_gained	127254							g.chr1:75055746G>T																												ENST00000326665.5:c.1745C>A	1.37:g.75055746G>T	ENSP00000322609:p.Ser582*					RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Nonsense_Mutation_p.S385*	p.S582*	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			12	1963	-			582			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Nonsense_Mutation	SNP	ENST00000326665.5	37	c.1745C>A	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943680	0.73672	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	.	.	.	5.12	4.16	0.48862	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.0873	8.7661	0.34704	0.1125:0.0:0.8875:0.0	.	.	.	.	X	582;385	.	ENSP00000322609:S582X	S	-	2	0	C1orf173	74828334	0.363000	0.24989	0.007000	0.13788	0.003000	0.03518	3.574000	0.53863	1.060000	0.40578	-0.402000	0.06365	TCA		0.383	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			9	11	1	0	1.12685e-05	1	1.18201e-05	9	11				
PCDH18	54510	broad.mit.edu	37	4	138451204	138451204	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr4:138451204G>A	ENST00000344876.4	-	1	2425	c.2039C>T	c.(2038-2040)gCa>gTa	p.A680V	PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.A460V|PCDH18_ENST00000412923.2_Missense_Mutation_p.A680V	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	680	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CACCGACTCTGCATATTCAAA	0.428																																						ENST00000344876.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(2038-2040)gCa>gTa		protocadherin 18							165.0	157.0	160.0					4																	138451204		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138451204G>A	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.2039C>T	4.37:g.138451204G>A	ENSP00000355082:p.Ala680Val					PCDH18_ENST00000412923.2_Missense_Mutation_p.A680V|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.A460V	p.A680V	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN			1	2425	-	all_hematologic(180;0.24)		680			Cadherin 6.		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.2039C>T	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	G	0.960	-0.703589	0.03255	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.55052	0.65;0.64;0.54	5.53	4.62	0.57501	Cadherin (2);	0.396081	0.18260	N	0.146664	T	0.24392	0.0591	N	0.04880	-0.145	0.43902	D	0.99653	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.002;0.0	T	0.25187	-1.0139	10	0.12430	T	0.62	.	4.6035	0.12364	0.2647:0.0:0.7353:0.0	.	460;680;680	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	V	680;680;460	ENSP00000355082:A680V;ENSP00000390688:A680V;ENSP00000425903:A460V	ENSP00000355082:A680V	A	-	2	0	PCDH18	138670654	1.000000	0.71417	0.658000	0.29665	0.982000	0.71751	4.954000	0.63631	2.871000	0.98454	0.655000	0.94253	GCA		0.428	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		31	104	0	0	0	1	0	31	104				
NBPF10	100132406	broad.mit.edu	37	1	145360584	145360584	+	Missense_Mutation	SNP	G	G	A	rs368319396		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:145360584G>A	ENST00000342960.5	+	74	9244	c.9209G>A	c.(9208-9210)gGg>gAg	p.G3070E	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	628						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GATGAGAAAGGGCCTGAAGTC	0.483																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(9208-9210)gGg>gAg		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145360584G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.9209G>A	1.37:g.145360584G>A	ENSP00000345684:p.Gly3070Glu					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.G3070E	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	74	9244	+	all_hematologic(923;0.032)		3070					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.9209G>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.080436	0.00035	.	.	ENSG00000163386	ENST00000342960	T	0.02579	4.24	1.08	-2.15	0.07102	.	.	.	.	.	T	0.00144	0.0004	N	0.00182	-1.905	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35301	-0.9794	9	0.02654	T	1	.	2.3784	0.04347	0.3306:0.0:0.4138:0.2555	.	2751	A6NDV3	.	E	3070	ENSP00000345684:G3070E	ENSP00000345684:G3070E	G	+	2	0	NBPF10	144071941	0.008000	0.16893	0.001000	0.08648	0.023000	0.10783	0.118000	0.15605	-1.402000	0.02056	-1.176000	0.01726	GGG		0.483	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		3	17	0	0	0	1	0	3	17				
GDAP1L1	78997	broad.mit.edu	37	20	42891917	42891917	+	Missense_Mutation	SNP	G	G	A	rs111998272	byFrequency	TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr20:42891917G>A	ENST00000342560.5	+	4	683	c.595G>A	c.(595-597)Gag>Aag	p.E199K	GDAP1L1_ENST00000537864.1_Missense_Mutation_p.E7K	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	199	GST C-terminal.									endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGACCATGAAGAGGAGCCCCA	0.552													G|||	24	0.00479233	0.0	0.0043	5008	,	,		17108	0.0		0.0169	False		,,,				2504	0.0041					ENST00000342560.5																			0				endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18						c.(595-597)Gag>Aag		ganglioside induced differentiation associated protein 1-like 1		G	LYS/GLU	16,4390	22.3+/-47.3	0,16,2187	229.0	226.0	227.0		595	5.2	1.0	20	dbSNP_132	227	96,8504	53.1+/-113.8	1,94,4205	yes	missense	GDAP1L1	NM_024034.3	56	1,110,6392	AA,AG,GG		1.1163,0.3631,0.8611	benign	199/368	42891917	112,12894	2203	4300	6503	SO:0001583	missense	78997							g.chr20:42891917G>A		CCDS13328.1, CCDS74725.1, CCDS74726.1, CCDS74727.1	20q12	2012-02-09	2012-02-09		ENSG00000124194	ENSG00000124194			4213	protein-coding gene	gene with protein product							Standard	NM_024034		Approved		uc010zwl.3	Q96MZ0	OTTHUMG00000032530	ENST00000342560.5:c.595G>A	20.37:g.42891917G>A	ENSP00000341782:p.Glu199Lys					GDAP1L1_ENST00000537864.1_Missense_Mutation_p.E7K	p.E199K	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		4	683	+		Myeloproliferative disorder(115;0.0122)	199			GST C-terminal.		B7Z621|Q5TE60|Q68CW7|Q9BQJ7|Q9BQV4|Q9BWJ4|Q9H3Y2|Q9H4G5	Missense_Mutation	SNP	ENST00000342560.5	37	c.595G>A	CCDS13328.1	18|18	0.008241758241758242|0.008241758241758242	0|0	0.0|0.0	2|2	0.0055248618784530384|0.0055248618784530384	0|0	0.0|0.0	16|16	0.021108179419525065|0.021108179419525065	G|G	21.5|21.5	4.162844|4.162844	0.78226|0.78226	0.003631|0.003631	0.011163|0.011163	ENSG00000124194|ENSG00000124194	ENST00000342560;ENST00000372947;ENST00000372946;ENST00000545149;ENST00000438466;ENST00000537864|ENST00000445952	D;D;D|.	0.99032|.	-5.35;-4.87;-4.64|.	5.23|5.23	5.23|5.23	0.72850|0.72850	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);|.	0.048636|.	0.85682|.	D|.	0.000000|.	T|T	0.37433|0.37433	0.1003|0.1003	N|N	0.17631|0.17631	0.505|0.505	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.12630|.	0.0;0.002;0.0;0.006|.	B;B;B;B|.	0.10450|.	0.0;0.002;0.001;0.005|.	T|T	0.39820|0.39820	-0.9595|-0.9595	10|5	0.32370|.	T|.	0.25|.	.|.	18.7855|18.7855	0.91952|0.91952	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	141;218;199;145|.	B7Z1I3;B7Z621;Q96MZ0;Q5JY50|.	.;.;GD1L1_HUMAN;.|.	K|K	199;196;141;167;141;7|145	ENSP00000341782:E199K;ENSP00000392881:E141K;ENSP00000440498:E7K|.	ENSP00000341782:E199K|.	E|R	+|+	1|2	0|0	GDAP1L1|GDAP1L1	42325331|42325331	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	8.437000|8.437000	0.90302|0.90302	2.447000|2.447000	0.82792|0.82792	0.543000|0.543000	0.68304|0.68304	GAG|AGA		0.552	GDAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079356.1	NM_024034		13	257	0	0	0	1	0	13	257				
GPR125	166647	broad.mit.edu	37	4	22389445	22389445	+	Silent	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr4:22389445G>C	ENST00000334304.5	-	19	4118	c.3849C>G	c.(3847-3849)ctC>ctG	p.L1283L	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1283					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TGGCCAAGTTGAGGCCATAAG	0.433																																						ENST00000334304.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(3847-3849)ctC>ctG		G protein-coupled receptor 125							92.0	90.0	91.0					4																	22389445		2203	4300	6503	SO:0001819	synonymous_variant	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22389445G>C	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.3849C>G	4.37:g.22389445G>C						GPR125_ENST00000282943.5_5'UTR	p.L1283L	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			19	4118	-		Breast(46;0.198)	1283					Q6UXK9|Q86SQ5|Q8TC55	Silent	SNP	ENST00000334304.5	37	c.3849C>G	CCDS33964.1																																																																																				0.433	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			7	45	0	0	0	1	0	7	45				
TMEM180	79847	broad.mit.edu	37	10	104233349	104233349	+	Silent	SNP	T	T	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr10:104233349T>C	ENST00000238936.4	+	8	1185	c.948T>C	c.(946-948)caT>caC	p.H316H	TMEM180_ENST00000366277.2_Silent_p.H45H	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	316						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TCGCTCCCCATCTCAACAACC	0.632																																						ENST00000238936.4																			0				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13						c.(946-948)caT>caC		transmembrane protein 180							146.0	145.0	146.0					10																	104233349		2203	4300	6503	SO:0001819	synonymous_variant	79847					integral to membrane		g.chr10:104233349T>C	AK026182	CCDS7535.1	10q24.32	2011-02-09	2006-10-12	2006-10-12	ENSG00000138111	ENSG00000138111			26196	protein-coding gene	gene with protein product				C10orf77		12477932	Standard	XM_006717971		Approved	FLJ22529, bA18I14.8	uc001kvt.3	Q14CX5	OTTHUMG00000018961	ENST00000238936.4:c.948T>C	10.37:g.104233349T>C						TMEM180_ENST00000366277.2_Silent_p.H45H	p.H316H	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	8	1185	+		Colorectal(252;0.122)	316					Q6NWM8|Q6NWM9|Q6PEZ7|Q9H679	Silent	SNP	ENST00000238936.4	37	c.948T>C	CCDS7535.1																																																																																				0.632	TMEM180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050075.2	NM_024789		38	148	0	0	0	1	0	38	148				
SPEN	23013	broad.mit.edu	37	1	16255478	16255478	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:16255478C>T	ENST00000375759.3	+	11	2947	c.2743C>T	c.(2743-2745)Cag>Tag	p.Q915*		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	915					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGCCCTGGACCAGAAACTTCA	0.443																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(2743-2745)Cag>Tag		spen family transcriptional repressor							156.0	172.0	167.0					1																	16255478		2203	4300	6503	SO:0001587	stop_gained	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16255478C>T		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.2743C>T	1.37:g.16255478C>T	ENSP00000364912:p.Gln915*						p.Q915*	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	2947	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	915					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Nonsense_Mutation	SNP	ENST00000375759.3	37	c.2743C>T	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	38	6.829600	0.97869	.	.	ENSG00000065526	ENST00000375759	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-8.1826	17.9082	0.88926	0.0:1.0:0.0:0.0	.	.	.	.	X	915	.	ENSP00000364912:Q915X	Q	+	1	0	SPEN	16128065	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	4.958000	0.63660	2.700000	0.92200	0.655000	0.94253	CAG		0.443	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		16	229	0	0	0	1	0	16	229				
EGFL8	80864	broad.mit.edu	37	6	32134035	32134035	+	Silent	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr6:32134035C>T	ENST00000395512.1	+	2	198	c.93C>T	c.(91-93)ctC>ctT	p.L31L	AGPAT1_ENST00000490711.1_5'Flank|PPT2-EGFL8_ENST00000422437.1_Intron|PPT2-EGFL8_ENST00000453656.2_3'UTR|EGFL8_ENST00000333845.6_Silent_p.L31L			Q99944	EGFL8_HUMAN	EGF-like-domain, multiple 8	31						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						GTGGATCCCTCAGAGAGAGGT	0.592																																						ENST00000395512.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						c.(91-93)ctC>ctT		EGF-like-domain, multiple 8							46.0	42.0	43.0					6																	32134035		2203	4300	6503	SO:0001819	synonymous_variant	80864					extracellular region|integral to membrane	calcium ion binding	g.chr6:32134035C>T	U89336	CCDS4743.1	6p21	2010-06-25	2003-05-21	2003-05-23	ENSG00000241404	ENSG00000241404			13944	protein-coding gene	gene with protein product		609897	"""chromosome 6 open reading frame 8"""	C6orf8			Standard	NM_030652		Approved	NG3		Q99944	OTTHUMG00000031222	ENST00000395512.1:c.93C>T	6.37:g.32134035C>T						EGFL8_ENST00000333845.6_Silent_p.L31L|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2-EGFL8_ENST00000422437.1_Intron	p.L31L			Q99944	EGFL8_HUMAN			2	198	+			31					B0S884|G5E9Q0|Q5JP23|Q5SSX3|Q8IV30	Silent	SNP	ENST00000395512.1	37	c.93C>T	CCDS4743.1																																																																																				0.592	EGFL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076463.3	NM_030652		7	38	0	0	0	1	0	7	38				
KPNA4	3840	broad.mit.edu	37	3	160245808	160245808	+	Silent	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr3:160245808C>G	ENST00000334256.4	-	8	794	c.489G>C	c.(487-489)ctG>ctC	p.L163L		NM_002268.4	NP_002259.1	O00629	IMA3_HUMAN	karyopherin alpha 4 (importin alpha 3)	163	NLS binding site (major). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			GGAGAAGCCTCAGGAAAAGTG	0.358																																						ENST00000334256.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22						c.(487-489)ctG>ctC		karyopherin alpha 4 (importin alpha 3)							60.0	63.0	62.0					3																	160245808		2203	4300	6503	SO:0001819	synonymous_variant	3840				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding	g.chr3:160245808C>G	AB002533	CCDS3191.1	3q25.33	2013-02-14			ENSG00000186432	ENSG00000186432		"""Importins"", ""Armadillo repeat containing"""	6397	protein-coding gene	gene with protein product		602970				9168958, 9395085	Standard	NM_002268		Approved	QIP1, SRP3, IPOA3, MGC12217, MGC26703	uc003fdn.3	O00629	OTTHUMG00000159033	ENST00000334256.4:c.489G>C	3.37:g.160245808C>G							p.L163L	NM_002268.4	NP_002259.1	O00629	IMA4_HUMAN	Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)		8	794	-			163			NLS binding site (major) (By similarity).		A8K4S6|D3DNM2|O00190	Silent	SNP	ENST00000334256.4	37	c.489G>C	CCDS3191.1																																																																																				0.358	KPNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352960.1	NM_002268		10	28	0	0	0	1	0	10	28				
PYGO1	26108	broad.mit.edu	37	15	55838669	55838669	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr15:55838669A>G	ENST00000302000.6	-	3	906	c.812T>C	c.(811-813)aTt>aCt	p.I271T	PYGO1_ENST00000563719.1_Missense_Mutation_p.I271T	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	271	Asn-rich.				hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|spermatid nucleus differentiation (GO:0007289)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		TTTTAATTCAATATTACTCTG	0.383																																						ENST00000302000.6																			0				endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27						c.(811-813)aTt>aCt		pygopus family PHD finger 1							194.0	196.0	195.0					15																	55838669		2193	4292	6485	SO:0001583	missense	26108				Wnt receptor signaling pathway	nucleus	zinc ion binding	g.chr15:55838669A>G	AF457207	CCDS10155.1	15q21.1	2013-10-09	2013-10-09		ENSG00000171016	ENSG00000171016		"""Zinc fingers, PHD-type"""	30256	protein-coding gene	gene with protein product		606902	"""pygopus homolog 1 (Drosophila)"""			11988739	Standard	NM_015617		Approved		uc002adf.1	Q9Y3Y4	OTTHUMG00000132009	ENST00000302000.6:c.812T>C	15.37:g.55838669A>G	ENSP00000302327:p.Ile271Thr					PYGO1_ENST00000563719.1_Missense_Mutation_p.I271T	p.I271T	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN		all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)	3	906	-			271			Asn-rich.		A7Y2D6	Missense_Mutation	SNP	ENST00000302000.6	37	c.812T>C	CCDS10155.1	.	.	.	.	.	.	.	.	.	.	A	1.871	-0.460278	0.04508	.	.	ENSG00000171016	ENST00000302000;ENST00000401688	T	0.42131	0.98	5.0	2.7	0.31948	.	0.569262	0.17897	N	0.158312	T	0.15825	0.0381	N	0.08118	0	0.23107	N	0.998287	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17349	-1.0372	10	0.10111	T	0.7	-6.3078	1.6331	0.02737	0.557:0.1435:0.1611:0.1384	.	271;271	A7Y2D6;Q9Y3Y4	.;PYGO1_HUMAN	T	271	ENSP00000302327:I271T	ENSP00000302327:I271T	I	-	2	0	PYGO1	53625961	0.000000	0.05858	0.997000	0.53966	0.992000	0.81027	0.185000	0.16958	0.877000	0.35895	0.482000	0.46254	ATT		0.383	PYGO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254977.2	NM_015617		24	80	0	0	0	1	0	24	80				
SIM1	6492	broad.mit.edu	37	6	100838251	100838251	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr6:100838251T>C	ENST00000369208.3	-	12	3069	c.2287A>G	c.(2287-2289)Acc>Gcc	p.T763A	SIM1_ENST00000262901.4_Missense_Mutation_p.T763A			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	763	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CTTCCGTTGGTTATTATAACA	0.393																																						ENST00000369208.3																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79						c.(2287-2289)Acc>Gcc		single-minded family bHLH transcription factor 1							135.0	134.0	134.0					6																	100838251		2203	4300	6503	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100838251T>C	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.2287A>G	6.37:g.100838251T>C	ENSP00000358210:p.Thr763Ala					SIM1_ENST00000262901.4_Missense_Mutation_p.T763A	p.T763A			P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	12	3069	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	763			Single-minded C-terminal.		Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.2287A>G	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	T	14.78	2.636568	0.47049	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.04317	3.65;3.65	6.1	6.1	0.99115	Single-minded, C-terminal (1);	0.042645	0.85682	D	0.000000	T	0.01730	0.0055	N	0.24115	0.695	0.54753	D	0.999986	B	0.26363	0.147	B	0.25405	0.06	T	0.52555	-0.8560	10	0.13853	T	0.58	.	16.686	0.85306	0.0:0.0:0.0:1.0	.	763	P81133	SIM1_HUMAN	A	763	ENSP00000358210:T763A;ENSP00000262901:T763A	ENSP00000262901:T763A	T	-	1	0	SIM1	100944972	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.853000	0.69496	2.340000	0.79590	0.528000	0.53228	ACC		0.393	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		17	56	0	0	0	1	0	17	56				
TUBGCP5	114791	broad.mit.edu	37	15	22855171	22855171	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr15:22855171G>T	ENST00000283645.4	+	13	1762	c.1632G>T	c.(1630-1632)agG>agT	p.R544S	TUBGCP5_ENST00000559846.1_3'UTR|TUBGCP5_ENST00000453949.2_Missense_Mutation_p.R544S	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	544					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		CCTCCAGCAGGCAGCACACCA	0.502																																						ENST00000283645.4																			0				breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46						c.(1630-1632)agG>agT		tubulin, gamma complex associated protein 5							76.0	71.0	73.0					15																	22855171		2203	4300	6503	SO:0001583	missense	114791				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr15:22855171G>T	AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"""gamma-tubulin complex component GCP5"""	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.1632G>T	15.37:g.22855171G>T	ENSP00000283645:p.Arg544Ser					TUBGCP5_ENST00000559846.1_3'UTR|TUBGCP5_ENST00000453949.2_Missense_Mutation_p.R544S	p.R544S	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)	13	1762	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	544					E9PB12|Q6IQ52|Q96PY8	Missense_Mutation	SNP	ENST00000283645.4	37	c.1632G>T	CCDS10008.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.685591	0.68157	.	.	ENSG00000153575	ENST00000283645;ENST00000453949	T;T	0.25414	1.8;1.8	4.88	-0.197	0.13228	.	0.000000	0.85682	D	0.000000	T	0.28234	0.0697	L	0.45581	1.43	0.58432	D	0.999994	D;D;D	0.54397	0.966;0.966;0.966	P;P;P	0.56960	0.81;0.81;0.81	T	0.28364	-1.0046	10	0.06236	T	0.91	-19.057	11.0577	0.47929	0.4135:0.0:0.5865:0.0	.	544;544;544	A8K1E4;Q96RT8;E9PB12	.;GCP5_HUMAN;.	S	544	ENSP00000283645:R544S;ENSP00000409217:R544S	ENSP00000283645:R544S	R	+	3	2	TUBGCP5	20406612	1.000000	0.71417	0.974000	0.42286	0.989000	0.77384	1.506000	0.35747	0.074000	0.16767	-0.150000	0.13652	AGG		0.502	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250998.2	NM_052903		19	48	1	0	1.33834e-09	1	1.47611e-09	19	48				
ABCA7	10347	broad.mit.edu	37	19	1053787	1053787	+	Splice_Site	SNP	A	A	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr19:1053787A>T	ENST00000263094.6	+	25	3655	c.3424A>T	c.(3424-3426)Atc>Ttc	p.I1142F	ABCA7_ENST00000433129.1_Splice_Site_p.I1142F|ABCA7_ENST00000435683.2_Splice_Site_p.I1004F	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1142					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCTCCCCAGATCTTCCTGAA	0.642																																						ENST00000263094.6																			0				NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.e25-1		ATP-binding cassette, sub-family A (ABC1), member 7							97.0	98.0	98.0					19																	1053787		2203	4300	6503	SO:0001630	splice_region_variant	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1053787A>T	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.3424-1A>T	19.37:g.1053787A>T						ABCA7_ENST00000435683.2_Splice_Site_p.I1004_splice|ABCA7_ENST00000433129.1_Splice_Site_p.I1142_splice	p.I1142_splice	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	25	3655	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	1142					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Splice_Site	SNP	ENST00000263094.6	37	c.3423_splice	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	A	16.06	3.014759	0.54468	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.88354	-2.37;-2.37	4.01	1.66	0.24008	.	.	.	.	.	D	0.92355	0.7574	M	0.84326	2.69	0.34441	D	0.699595	D;D	0.61697	0.99;0.983	D;P	0.66602	0.945;0.883	D	0.91230	0.5013	8	.	.	.	.	4.6803	0.12732	0.7009:0.1915:0.1076:0.0	.	1004;1142	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	F	1142	ENSP00000263094:I1142F;ENSP00000414062:I1142F	.	I	+	1	0	ABCA7	1004787	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	2.757000	0.47557	0.517000	0.28361	0.260000	0.18958	ATC		0.642	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112	Missense_Mutation	25	57	0	0	0	1	0	25	57				
PIK3CB	5291	broad.mit.edu	37	3	138433375	138433375	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr3:138433375T>C	ENST00000477593.1	-	8	1310	c.1237A>G	c.(1237-1239)Acg>Gcg	p.T413A	PIK3CB_ENST00000289153.2_Missense_Mutation_p.T413A|PIK3CB_ENST00000544716.1_5'Flank			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	413	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	GATTTCTTCGTTTTTACTTTA	0.318																																						ENST00000477593.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(1237-1239)Acg>Gcg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta							157.0	147.0	150.0					3																	138433375		2203	4300	6503	SO:0001583	missense	5291				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:138433375T>C		CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.1237A>G	3.37:g.138433375T>C	ENSP00000418143:p.Thr413Ala					PIK3CB_ENST00000289153.2_Missense_Mutation_p.T413A	p.T413A			P42338	PK3CB_HUMAN			8	1310	-			413			C2 PI3K-type.		D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	c.1237A>G	CCDS3104.1	.	.	.	.	.	.	.	.	.	.	T	13.62	2.290313	0.40494	.	.	ENSG00000051382	ENST00000477593;ENST00000289153	T;T	0.69926	-0.44;-0.44	5.61	5.61	0.85477	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (2);	0.229090	0.43416	D	0.000566	T	0.41534	0.1163	N	0.02011	-0.69	0.80722	D	1	B;B	0.10296	0.003;0.0	B;B	0.15052	0.012;0.002	T	0.36962	-0.9726	10	0.21014	T	0.42	-12.2416	16.0906	0.81088	0.0:0.0:0.0:1.0	.	413;17	P42338;B4DZI3	PK3CB_HUMAN;.	A	413	ENSP00000418143:T413A;ENSP00000289153:T413A	ENSP00000289153:T413A	T	-	1	0	PIK3CB	139916065	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	7.601000	0.82783	2.252000	0.74401	0.528000	0.53228	ACG		0.318	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			4	18	0	0	0	1	0	4	18				
CXorf66	347487	broad.mit.edu	37	X	139038258	139038258	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chrX:139038258G>T	ENST00000370540.1	-	3	906	c.883C>A	c.(883-885)Caa>Aaa	p.Q295K		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	295						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						TGTAGGTTTTGAGTGTTTTTC	0.388																																						ENST00000370540.1																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						c.(883-885)Caa>Aaa		chromosome X open reading frame 66							193.0	164.0	174.0					X																	139038258		2203	4300	6503	SO:0001583	missense	347487					integral to membrane		g.chrX:139038258G>T		CCDS35411.1	Xq27.1	2014-05-30			ENSG00000203933	ENSG00000203933			33743	protein-coding gene	gene with protein product	"""secreted glycoprotein, X-linked"""					24709545	Standard	NM_001013403		Approved	RP11-35F15.2, SGPX	uc004fbb.3	Q5JRM2	OTTHUMG00000022539	ENST00000370540.1:c.883C>A	X.37:g.139038258G>T	ENSP00000359571:p.Gln295Lys						p.Q295K	NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN			3	906	-			295						Missense_Mutation	SNP	ENST00000370540.1	37	c.883C>A	CCDS35411.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.410354	0.25465	.	.	ENSG00000203933	ENST00000370540	T	0.50277	0.75	3.95	-0.661	0.11417	.	1.265890	0.05899	N	0.629677	T	0.38026	0.1025	L	0.29908	0.895	0.09310	N	1	P	0.42584	0.784	B	0.43274	0.414	T	0.32693	-0.9897	9	.	.	.	-0.1666	7.8213	0.29290	0.0:0.4456:0.4043:0.1501	.	295	Q5JRM2	CX066_HUMAN	K	295	ENSP00000359571:Q295K	.	Q	-	1	0	CXorf66	138865924	0.004000	0.15560	0.000000	0.03702	0.003000	0.03518	1.196000	0.32198	-0.230000	0.09840	-0.239000	0.12128	CAA		0.388	CXorf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058572.1	NM_001013403		33	59	1	0	2.80507e-11	1	3.16361e-11	33	59				
VPS13D	55187	broad.mit.edu	37	1	12316413	12316413	+	Missense_Mutation	SNP	G	G	C	rs148067811	byFrequency	TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:12316413G>C	ENST00000358136.3	+	8	823	c.693G>C	c.(691-693)gaG>gaC	p.E231D	VPS13D_ENST00000356315.4_Missense_Mutation_p.E231D	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGAGCATGGAGAGTCGCAGCC	0.537																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(691-693)gaG>gaC		vacuolar protein sorting 13 homolog D (S. cerevisiae)							134.0	123.0	127.0					1																	12316413		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12316413G>C	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.693G>C	1.37:g.12316413G>C	ENSP00000350854:p.Glu231Asp					VPS13D_ENST00000356315.4_Missense_Mutation_p.E231D	p.E231D	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	8	823	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	231						Missense_Mutation	SNP	ENST00000358136.3	37	c.693G>C	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.005748	0.35415	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.52526	0.66;0.66	5.94	3.71	0.42584	.	0.164625	0.52532	N	0.000065	T	0.32133	0.0819	L	0.43152	1.355	0.80722	D	1	B;B	0.30741	0.232;0.293	B;B	0.29440	0.102;0.07	T	0.06588	-1.0818	10	0.13853	T	0.58	.	5.4578	0.16600	0.178:0.1984:0.6236:0.0	.	231;231	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	D	231	ENSP00000348666:E231D;ENSP00000350854:E231D	ENSP00000348666:E231D	E	+	3	2	VPS13D	12239000	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	2.055000	0.41345	1.482000	0.48325	0.650000	0.86243	GAG		0.537	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		17	156	0	0	0	1	0	17	156				
THBS1	7057	broad.mit.edu	37	15	39885673	39885673	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr15:39885673G>C	ENST00000260356.5	+	19	3236	c.3071G>C	c.(3070-3072)gGa>gCa	p.G1024A	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1024	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		GACTATGCTGGATTTGTCTTT	0.517																																						ENST00000260356.5																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(3070-3072)gGa>gCa		thrombospondin 1	Becaplermin(DB00102)						157.0	159.0	158.0					15																	39885673		2200	4297	6497	SO:0001583	missense	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39885673G>C		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.3071G>C	15.37:g.39885673G>C	ENSP00000260356:p.Gly1024Ala						p.G1024A	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	19	3236	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	1024			TSP C-terminal.		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	c.3071G>C	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.803358	0.90623	.	.	ENSG00000137801	ENST00000260356	D	0.96830	-4.14	5.77	5.77	0.91146	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.000000	0.35525	N	0.003146	D	0.98353	0.9453	M	0.84585	2.705	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.91635	0.954;0.999	D	0.98669	1.0687	10	0.62326	D	0.03	-15.112	19.9729	0.97289	0.0:0.0:1.0:0.0	.	939;1024	B4E3J7;P07996	.;TSP1_HUMAN	A	1024	ENSP00000260356:G1024A	ENSP00000260356:G1024A	G	+	2	0	THBS1	37672965	1.000000	0.71417	0.898000	0.35279	0.992000	0.81027	9.864000	0.99589	2.714000	0.92807	0.655000	0.94253	GGA		0.517	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		19	171	0	0	0	1	0	19	171				
KCNB2	9312	broad.mit.edu	37	8	73850106	73850106	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr8:73850106G>A	ENST00000523207.1	+	3	3104	c.2516G>A	c.(2515-2517)aGt>aAt	p.S839N		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	839					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	GATAAGCCTAGTGATGGGAGA	0.522																																						ENST00000523207.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(2515-2517)aGt>aAt		potassium voltage-gated channel, Shab-related subfamily, member 2							80.0	79.0	80.0					8																	73850106		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73850106G>A	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.2516G>A	8.37:g.73850106G>A	ENSP00000430846:p.Ser839Asn						p.S839N	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	3104	+	Breast(64;0.137)		839					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.2516G>A	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	G	8.064	0.768778	0.15983	.	.	ENSG00000182674	ENST00000523207	D	0.97480	-4.4	5.26	4.38	0.52667	.	1.777430	0.03291	N	0.187567	D	0.93171	0.7825	N	0.14661	0.345	0.24006	N	0.996193	B	0.02656	0.0	B	0.06405	0.002	D	0.84111	0.0401	10	0.27785	T	0.31	.	9.419	0.38539	0.1614:0.0:0.8386:0.0	.	839	Q92953	KCNB2_HUMAN	N	839	ENSP00000430846:S839N	ENSP00000430846:S839N	S	+	2	0	KCNB2	74012660	0.053000	0.20554	0.171000	0.22900	0.940000	0.58332	1.150000	0.31639	1.448000	0.47680	0.591000	0.81541	AGT		0.522	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		39	58	0	0	0	1	0	39	58				
MASP1	5648	broad.mit.edu	37	3	186980391	186980391	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr3:186980391G>A	ENST00000337774.5	-	3	744	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W	MASP1_ENST00000392472.2_Missense_Mutation_p.R6W|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000169293.6_Missense_Mutation_p.R119W|MASP1_ENST00000392470.2_Missense_Mutation_p.R93W|MASP1_ENST00000296280.6_Missense_Mutation_p.R119W	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	119	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.|Homodimerization. {ECO:0000250}.|Interaction with FCN2.|Interaction with MBL2.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		AAATCTGACCGGAAAGTGATG	0.557																																						ENST00000337774.5																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60						c.(355-357)Cgg>Tgg		mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)							86.0	84.0	84.0					3																	186980391		2203	4300	6503	SO:0001583	missense	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:186980391G>A	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.355C>T	3.37:g.186980391G>A	ENSP00000336792:p.Arg119Trp					MASP1_ENST00000392472.2_Missense_Mutation_p.R6W|MASP1_ENST00000169293.6_Missense_Mutation_p.R119W|MASP1_ENST00000392470.2_Missense_Mutation_p.R93W|MASP1_ENST00000296280.6_Missense_Mutation_p.R119W|MASP1_ENST00000495249.1_Intron	p.R119W	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	3	744	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		119			CUB 1.|Homodimerization (By similarity).|Interaction with FCN2.|Interaction with MBL2.		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	ENST00000337774.5	37	c.355C>T	CCDS33907.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.603065	0.66445	.	.	ENSG00000127241	ENST00000337774;ENST00000296280;ENST00000392472;ENST00000541896;ENST00000169293;ENST00000392470;ENST00000392475	T;T;D;T;T;T	0.83591	1.54;1.54;-1.74;1.54;1.54;1.54	5.45	4.56	0.56223	CUB (5);	0.258328	0.37012	N	0.002293	D	0.91553	0.7332	M	0.89214	3.015	0.51233	D	0.999912	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.972;0.938;0.995;0.999;0.96	D	0.91514	0.5229	10	0.38643	T	0.18	.	13.3929	0.60834	0.0:0.0:0.6992:0.3008	.	93;119;6;119;119	F8W876;P48740-3;P48740-4;P48740-2;P48740	.;.;.;.;MASP1_HUMAN	W	119;119;6;6;119;93;126	ENSP00000336792:R119W;ENSP00000296280:R119W;ENSP00000376264:R6W;ENSP00000169293:R119W;ENSP00000376262:R93W;ENSP00000376267:R126W	ENSP00000169293:R119W	R	-	1	2	MASP1	188463085	0.878000	0.30173	1.000000	0.80357	0.991000	0.79684	0.763000	0.26517	1.417000	0.47077	0.655000	0.94253	CGG		0.557	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		15	63	0	0	0	1	0	15	63				
PGS1	9489	broad.mit.edu	37	17	76422537	76422537	+	IGR	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr17:76422537C>A	ENST00000262764.6	+	0	2201				DNAH17_ENST00000585328.1_Splice_Site|DNAH17_ENST00000389840.5_Splice_Site|AC061992.1_ENST00000600087.1_Nonsense_Mutation_p.Y43*|DNAH17_ENST00000586052.1_Splice_Site	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1						cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			ACGGCACTTACCCTGATGCGG	0.632																																					Esophageal Squamous(45;182 1126 10685 43198)	ENST00000600087.1																			0											c.(127-129)taC>taA																																						SO:0001628	intergenic_variant	8632							g.chr17:76422537C>A		CCDS42391.1	17q25.3	2006-02-09							30029	protein-coding gene	gene with protein product		614942				9880566	Standard	XR_243691		Approved	DKFZP762M186	uc002jvm.3	Q32NB8			17.37:g.76422537C>A						DNAH17_ENST00000586052.1_Splice_Site|DNAH17_ENST00000585328.1_Splice_Site|DNAH17_ENST00000389840.5_Splice_Site	p.Y43*							1	129	+								B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Nonsense_Mutation	SNP	ENST00000262764.6	37	c.129C>A	CCDS42391.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.849656	0.71603	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4155	0.83732	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DNAH17	73934132	1.000000	0.71417	0.999000	0.59377	0.711000	0.40976	5.661000	0.68025	2.520000	0.84964	0.655000	0.94253	.		0.632	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437301.1	NM_024419		15	7	1	0	1.05317e-09	1	1.16587e-09	15	7				
ITGAL	3683	broad.mit.edu	37	16	30528404	30528404	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr16:30528404G>T	ENST00000356798.6	+	26	3153	c.2973G>T	c.(2971-2973)caG>caT	p.Q991H	ITGAL_ENST00000358164.5_Missense_Mutation_p.Q907H|ITGAL_ENST00000433423.2_Missense_Mutation_p.Q225H	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	991					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	GGAGCGTGCAGATGGTGAGTG	0.632																																					NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(2971-2973)caG>caT		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)						83.0	81.0	82.0					16																	30528404		2197	4300	6497	SO:0001583	missense	3683				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30528404G>T		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.2973G>T	16.37:g.30528404G>T	ENSP00000349252:p.Gln991His					ITGAL_ENST00000358164.5_Missense_Mutation_p.Q907H|ITGAL_ENST00000433423.2_Missense_Mutation_p.Q225H	p.Q991H	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN			26	3153	+			991					O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	c.2973G>T	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.235155	0.58886	.	.	ENSG00000005844	ENST00000356798;ENST00000358164;ENST00000433423	T;T;T	0.48522	0.81;0.81;0.81	4.67	3.7	0.42460	Integrin alpha-2 (1);	0.552415	0.16576	N	0.208389	T	0.36386	0.0965	L	0.35723	1.085	0.80722	D	1	B;B;B	0.26577	0.153;0.019;0.011	B;B;B	0.25987	0.065;0.034;0.023	T	0.11842	-1.0571	10	0.27785	T	0.31	.	10.4619	0.44585	0.0:0.0:0.8067:0.1932	.	225;907;991	B4E021;Q96HB1;P20701	.;.;ITAL_HUMAN	H	991;907;225	ENSP00000349252:Q991H;ENSP00000350886:Q907H;ENSP00000409377:Q225H	ENSP00000349252:Q991H	Q	+	3	2	ITGAL	30435905	1.000000	0.71417	0.980000	0.43619	0.692000	0.40212	0.933000	0.28897	1.286000	0.44565	0.557000	0.71058	CAG		0.632	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			32	99	1	0	3.69857e-22	1	4.33426e-22	32	99				
BMP5	653	broad.mit.edu	37	6	55739531	55739531	+	Missense_Mutation	SNP	T	T	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr6:55739531T>G	ENST00000370830.3	-	1	831	c.133A>C	c.(133-135)Aac>Cac	p.N45H	BMP5_ENST00000446683.2_Missense_Mutation_p.N45H	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	45					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTTTCGTGGTTCCGTAGTCTT	0.463																																						ENST00000370830.3																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45						c.(133-135)Aac>Cac		bone morphogenetic protein 5							193.0	181.0	185.0					6																	55739531		2203	4300	6503	SO:0001583	missense	653				cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr6:55739531T>G		CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.133A>C	6.37:g.55739531T>G	ENSP00000359866:p.Asn45His					BMP5_ENST00000446683.2_Missense_Mutation_p.N45H	p.N45H	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		1	831	-	Lung NSC(77;0.0462)		45					B4E0Y4|Q9H547|Q9NTM5	Missense_Mutation	SNP	ENST00000370830.3	37	c.133A>C	CCDS4958.1	.	.	.	.	.	.	.	.	.	.	T	15.44	2.834067	0.50951	.	.	ENSG00000112175	ENST00000370830;ENST00000446683	T;T	0.64803	-0.12;-0.12	5.72	5.72	0.89469	Transforming growth factor-beta, N-terminal (1);	0.100085	0.64402	D	0.000002	T	0.67720	0.2923	L	0.51422	1.61	0.58432	D	0.999999	D;D	0.64830	0.994;0.994	D;D	0.66196	0.942;0.942	T	0.71817	-0.4478	10	0.66056	D	0.02	.	15.9912	0.80206	0.0:0.0:0.0:1.0	.	45;45	B4E0Y4;P22003	.;BMP5_HUMAN	H	45	ENSP00000359866:N45H;ENSP00000391818:N45H	ENSP00000359866:N45H	N	-	1	0	BMP5	55847490	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.289000	0.72696	2.172000	0.68678	0.533000	0.62120	AAC		0.463	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1			24	68	0	0	0	1	0	24	68				
DHRS9	10170	broad.mit.edu	37	2	169938300	169938300	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr2:169938300A>T	ENST00000327239.4	+	5	1713	c.209A>T	c.(208-210)aAg>aTg	p.K70M	DHRS9_ENST00000421653.1_De_novo_Start_OutOfFrame|DHRS9_ENST00000357546.2_Missense_Mutation_p.K70M|DHRS9_ENST00000602501.1_Missense_Mutation_p.K70M|DHRS9_ENST00000432060.2_Missense_Mutation_p.K130M|DHRS9_ENST00000412271.1_Missense_Mutation_p.K70M|DHRS9_ENST00000436483.2_Missense_Mutation_p.K70M|DHRS9_ENST00000428522.1_Missense_Mutation_p.K70M	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	70					9-cis-retinoic acid biosynthetic process (GO:0042904)|androgen metabolic process (GO:0008209)|epithelial cell differentiation (GO:0030855)|progesterone metabolic process (GO:0042448)|retinol metabolic process (GO:0042572)	integral component of endoplasmic reticulum membrane (GO:0030176)	alcohol dehydrogenase (NAD) activity (GO:0004022)|racemase and epimerase activity (GO:0016854)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						ACAGCTTTAAAGGCAGAAACC	0.483																																						ENST00000421653.1																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13								dehydrogenase/reductase (SDR family) member 9							83.0	82.0	83.0					2																	169938300		2203	4300	6503	SO:0001583	missense	10170				9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity	g.chr2:169938300A>T	AF067174	CCDS2231.1, CCDS74600.1	2q31.1	2011-09-14			ENSG00000073737	ENSG00000073737		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	16888	protein-coding gene	gene with protein product	"""NADP-dependent retinol dehydrogenase/reductase"", ""3-alpha hydroxysteroid dehydrogenase"", ""retinol dehydrogenase homolog"", ""short chain dehydrogenase/reductase family 9C, member 4"""	612131				11304534, 11294878, 19027726	Standard	NM_001142270		Approved	RDHL, 3alpha-HSD, RETSDR8, RDH15, SDR9C4	uc010zde.2	Q9BPW9	OTTHUMG00000132180	ENST00000327239.4:c.209A>T	2.37:g.169938300A>T	ENSP00000316670:p.Lys70Met					DHRS9_ENST00000412271.1_Missense_Mutation_p.K70M|DHRS9_ENST00000357546.2_Missense_Mutation_p.K70M|DHRS9_ENST00000428522.1_Missense_Mutation_p.K70M|DHRS9_ENST00000327239.4_Missense_Mutation_p.K70M|DHRS9_ENST00000602501.1_Missense_Mutation_p.K70M|DHRS9_ENST00000436483.2_Missense_Mutation_p.K70M|DHRS9_ENST00000432060.2_Missense_Mutation_p.K130M				Q9BPW9	DHRS9_HUMAN			0	293	+								B7Z416|D3DPC1|Q5RKX1|Q9NRA9|Q9NRB0	Translation_Start_Site	SNP	ENST00000327239.4	37		CCDS2231.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.061099	0.76074	.	.	ENSG00000073737	ENST00000327239;ENST00000357546;ENST00000432060;ENST00000428522;ENST00000436483;ENST00000412271	D;D;D;D;D;D	0.89552	-2.53;-2.53;-2.53;-2.53;-2.53;-2.53	5.72	5.72	0.89469	NAD(P)-binding domain (1);	0.043332	0.85682	D	0.000000	D	0.92218	0.7532	M	0.78456	2.415	0.39123	D	0.961707	P;D	0.54964	0.89;0.969	P;P	0.56788	0.756;0.806	D	0.93147	0.6546	10	0.59425	D	0.04	.	10.3482	0.43918	0.9261:0.0:0.0739:0.0	.	130;70	B7Z416;Q9BPW9	.;DHRS9_HUMAN	M	70;70;130;70;70;70	ENSP00000316670:K70M;ENSP00000350154:K70M;ENSP00000389241:K130M;ENSP00000388564:K70M;ENSP00000407167:K70M;ENSP00000407747:K70M	ENSP00000316670:K70M	K	+	2	0	DHRS9	169646546	0.049000	0.20398	1.000000	0.80357	0.978000	0.69477	0.882000	0.28186	2.311000	0.77944	0.533000	0.62120	AAG		0.483	DHRS9-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333612.3	NM_005771		21	51	0	0	0	1	0	21	51				
MUC5AC	4586	broad.mit.edu	37	11	1159315	1159315	+	Missense_Mutation	SNP	C	C	T	rs369462013		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr11:1159315C>T	ENST00000356191.2	+	16	1283	c.1283C>T	c.(1282-1284)cCg>cTg	p.P428L				P98088	MUC5A_HUMAN	mucin 5AC, oligomeric mucus/gel-forming	431					cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		GTTCCATGCCCGGGTACCTGC	0.637													c|||	1	0.000199681	0.0	0.0	5008	,	,		18427	0.0		0.0	False		,,,				2504	0.001					ENST00000356191.2																			0				NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203						c.(1282-1284)cCg>cTg		mucin 5AC, oligomeric mucus/gel-forming		C	LEU/PRO	0,1750		0,0,875	65.0	68.0	67.0		1949	2.9	0.0	11		67	5,3975		0,5,1985	no	missense	MUC5AC	XM_003403450.1	98	0,5,2860	TT,TC,CC		0.1256,0.0,0.0873	probably-damaging	650/1963	1159315	5,5725	875	1990	2865	SO:0001583	missense	4586							g.chr11:1159315C>T	AJ001402, AJ298317		11p15.5	2007-04-23	2006-03-14		ENSG00000215182	ENSG00000215182		"""Mucins"""	7515	protein-coding gene	gene with protein product		158373	"""mucin 5, subtypes A and C, tracheobronchial/gastric"""			7826332, 9588204	Standard	XM_006709945		Approved	MUC5	uc001lsz.3	P98088	OTTHUMG00000154270	ENST00000356191.2:c.1283C>T	11.37:g.1159315C>T	ENSP00000348519:p.Pro428Leu						p.P428L						BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)	16	1283	+		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)						O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5	Missense_Mutation	SNP	ENST00000356191.2	37	c.1283C>T		.	.	.	.	.	.	.	.	.	.	c	11.35	1.613463	0.28712	0.0	0.001256	ENSG00000215182	ENST00000534821;ENST00000356191	T;T	0.70164	-0.46;-0.46	3.85	2.93	0.34026	.	.	.	.	.	T	0.62502	0.2433	M	0.71581	2.175	.	.	.	P	0.51537	0.946	B	0.38842	0.283	T	0.74399	-0.3678	8	0.87932	D	0	.	11.5578	0.50759	0.0:0.9108:0.0:0.0892	.	431	A7Y9J9	.	L	431;428	ENSP00000435591:P431L;ENSP00000348519:P428L	ENSP00000348519:P428L	P	+	2	0	MUC5AC	1149315	0.670000	0.27512	0.005000	0.12908	0.238000	0.25445	2.293000	0.43558	0.743000	0.32719	0.546000	0.68486	CCG		0.637	MUC5AC-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_001130382		4	42	0	0	0	1	0	4	42				
CPM	1368	broad.mit.edu	37	12	69279634	69279634	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr12:69279634G>C	ENST00000551568.1	-	3	256	c.196C>G	c.(196-198)Cca>Gca	p.P66A	CPM_ENST00000338356.3_Missense_Mutation_p.P66A|CPM_ENST00000546373.1_Missense_Mutation_p.P66A	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	66					anatomical structure morphogenesis (GO:0009653)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TGTTCCTTTGGAAACCGCCCC	0.408																																						ENST00000551568.1																			0				large_intestine(1)|lung(6)|prostate(2)	9						c.(196-198)Cca>Gca		carboxypeptidase M							147.0	142.0	144.0					12																	69279634		2203	4300	6503	SO:0001583	missense	1368				anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding	g.chr12:69279634G>C	AF368463	CCDS8987.1	12q15	2012-02-10			ENSG00000135678	ENSG00000135678	3.4.17.12		2311	protein-coding gene	gene with protein product	"""renal carboxypeptidase"", ""urinary carboxypeptidase B"""	114860				8586455	Standard	NM_001874		Approved		uc001suq.3	P14384	OTTHUMG00000169300	ENST00000551568.1:c.196C>G	12.37:g.69279634G>C	ENSP00000448517:p.Pro66Ala					CPM_ENST00000338356.3_Missense_Mutation_p.P66A|CPM_ENST00000546373.1_Missense_Mutation_p.P66A	p.P66A	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)		3	256	-	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		66					B2R800|Q9H2K9	Missense_Mutation	SNP	ENST00000551568.1	37	c.196C>G	CCDS8987.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.0|21.0	4.085071|4.085071	0.76642|0.76642	.|.	.|.	ENSG00000135678|ENSG00000135678	ENST00000549781|ENST00000551568;ENST00000338356;ENST00000546373;ENST00000548954;ENST00000548262	T|T;T;T;T;T	0.41065|0.03441	1.01|3.93;3.93;3.93;3.93;3.93	4.59|4.59	4.59|4.59	0.56863|0.56863	.|Peptidase M14, carboxypeptidase A (2);	.|0.053698	.|0.85682	.|N	.|0.000000	T|T	0.12008|0.12008	0.0292|0.0292	M|M	0.75884|0.75884	2.315|2.315	0.58432|0.58432	D|D	0.999998|0.999998	.|D	.|0.55172	.|0.97	.|P	.|0.52823	.|0.71	T|T	0.01081|0.01081	-1.1458|-1.1458	6|9	.|.	.|.	.|.	-13.0636|-13.0636	15.1426|15.1426	0.72623|0.72623	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|66	.|P14384	.|CBPM_HUMAN	L|A	64|66	ENSP00000448078:F64L|ENSP00000448517:P66A;ENSP00000339157:P66A;ENSP00000447255:P66A;ENSP00000446799:P66A;ENSP00000449911:P66A	.|.	F|P	-|-	3|1	2|0	CPM|CPM	67565901|67565901	1.000000|1.000000	0.71417|0.71417	0.852000|0.852000	0.33557|0.33557	0.890000|0.890000	0.51754|0.51754	6.651000|6.651000	0.74372|0.74372	2.475000|2.475000	0.83589|0.83589	0.557000|0.557000	0.71058|0.71058	TTC|CCA		0.408	CPM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403355.1	NM_198320		11	44	0	0	0	1	0	11	44				
DOCK11	139818	broad.mit.edu	37	X	117815131	117815131	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chrX:117815131G>C	ENST00000276202.7	+	50	5845	c.5782G>C	c.(5782-5784)Gag>Cag	p.E1928Q	DOCK11_ENST00000276204.6_Missense_Mutation_p.E1928Q	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1928	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TAAAACTGCAGAGCTGCAAAA	0.403																																						ENST00000276204.6																			0				breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						c.(5782-5784)Gag>Cag		dedicator of cytokinesis 11							85.0	73.0	77.0					X																	117815131		2203	4300	6503	SO:0001583	missense	139818				blood coagulation	cytosol	GTP binding	g.chrX:117815131G>C	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.5782G>C	X.37:g.117815131G>C	ENSP00000276202:p.Glu1928Gln					DOCK11_ENST00000276202.7_Missense_Mutation_p.E1928Q	p.E1928Q			Q5JSL3	DOC11_HUMAN			50	5856	+			1928			DHR-2.		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	c.5782G>C	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.457976	0.84317	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.21361	2.01;2.01	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.45397	0.1340	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.15983	-1.0418	10	0.37606	T	0.19	-9.6584	17.8167	0.88637	0.0:0.0:1.0:0.0	.	1928;1928	A6NIW2;Q5JSL3	.;DOC11_HUMAN	Q	1928	ENSP00000276204:E1928Q;ENSP00000276202:E1928Q	ENSP00000276202:E1928Q	E	+	1	0	DOCK11	117699159	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.441000	0.97557	2.426000	0.82243	0.544000	0.68410	GAG		0.403	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		18	37	0	0	0	1	0	18	37				
ATP10B	23120	broad.mit.edu	37	5	160067536	160067536	+	Missense_Mutation	SNP	C	C	T	rs374878756		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr5:160067536C>T	ENST00000327245.5	-	10	1778	c.932G>A	c.(931-933)cGg>cAg	p.R311Q	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	311					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATTCATGCGCCGCTCAATCTT	0.478																																						ENST00000327245.5																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(931-933)cGg>cAg		ATPase, class V, type 10B		C	GLN/ARG	1,4013		0,1,2006	188.0	189.0	189.0		932	5.4	1.0	5		189	0,8408		0,0,4204	no	missense	ATP10B	NM_025153.2	43	0,1,6210	TT,TC,CC		0.0,0.0249,0.0081	possibly-damaging	311/1462	160067536	1,12421	2007	4204	6211	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160067536C>T	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.932G>A	5.37:g.160067536C>T	ENSP00000313600:p.Arg311Gln						p.R311Q	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		10	1778	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	311					Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.932G>A	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.027573	0.75390	2.49E-4	0.0	ENSG00000118322	ENST00000327245	D	0.91124	-2.79	5.41	5.41	0.78517	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.92156	0.7513	M	0.84846	2.72	0.47341	D	0.999395	P;B;D;P	0.54397	0.924;0.157;0.966;0.536	P;B;P;B	0.46299	0.507;0.052;0.511;0.116	D	0.92577	0.6071	9	.	.	.	.	13.5202	0.61563	0.0:0.9226:0.0:0.0774	.	355;311;283;311	B4DHG1;O94823-2;O94823-3;O94823	.;.;.;AT10B_HUMAN	Q	311	ENSP00000313600:R311Q	.	R	-	2	0	ATP10B	160000114	0.995000	0.38212	1.000000	0.80357	0.996000	0.88848	3.244000	0.51399	2.547000	0.85894	0.650000	0.86243	CGG		0.478	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		26	98	0	0	0	1	0	26	98				
OR52R1	119695	broad.mit.edu	37	11	4825504	4825504	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr11:4825504G>T	ENST00000356069.2	-	1	106	c.107C>A	c.(106-108)gCc>gAc	p.A36D	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000380382.1_Missense_Mutation_p.A115D	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	36						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCATACGTGGCACAGAACGG	0.512																																						ENST00000380382.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29						c.(343-345)gCc>gAc		olfactory receptor, family 52, subfamily R, member 1							93.0	83.0	86.0					11																	4825504		2201	4298	6499	SO:0001583	missense	119695				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4825504G>T	BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"""GPCR / Class A : Olfactory receptors"""	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.107C>A	11.37:g.4825504G>T	ENSP00000348368:p.Ala36Asp					MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.A36D	p.A115D			Q8NGF1	O52R1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	343	-		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)	36					Q6IFI0	Missense_Mutation	SNP	ENST00000356069.2	37	c.344C>A	CCDS31360.2	.	.	.	.	.	.	.	.	.	.	G	14.13	2.443475	0.43429	.	.	ENSG00000176937	ENST00000356069;ENST00000380382	T;T	0.00449	7.37;7.37	5.57	-1.11	0.09840	.	0.653399	0.13381	N	0.392170	T	0.00524	0.0017	M	0.76838	2.35	0.21527	N	0.999652	P	0.52061	0.95	P	0.47470	0.548	T	0.47032	-0.9148	10	0.45353	T	0.12	.	7.4705	0.27347	0.5915:0.1248:0.2837:0.0	.	36	Q8NGF1	O52R1_HUMAN	D	36;115	ENSP00000348368:A36D;ENSP00000369742:A115D	ENSP00000348368:A36D	A	-	2	0	OR52R1	4782080	0.000000	0.05858	0.969000	0.41365	0.181000	0.23173	0.093000	0.15086	-0.101000	0.12219	-0.157000	0.13467	GCC		0.512	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142183.1	NM_001005177		6	20	1	0	0.00307968	1	0.00316405	6	20				
TRAPPC9	83696	broad.mit.edu	37	8	141263009	141263009	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr8:141263009G>A	ENST00000438773.2	-	16	2431	c.2298C>T	c.(2296-2298)ttC>ttT	p.F766F	TRAPPC9_ENST00000389328.4_Silent_p.F864F|TRAPPC9_ENST00000389327.3_Silent_p.F757F	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	766					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						TCCAGCTCAAGAAGTCGCCAT	0.448																																						ENST00000389328.4																			0				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						c.(2590-2592)ttC>ttT		trafficking protein particle complex 9							64.0	63.0	63.0					8																	141263009		2203	4300	6503	SO:0001819	synonymous_variant	83696				cell differentiation	endoplasmic reticulum|Golgi apparatus		g.chr8:141263009G>A	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.2298C>T	8.37:g.141263009G>A						TRAPPC9_ENST00000389327.3_Silent_p.F757F|TRAPPC9_ENST00000438773.2_Silent_p.F766F	p.F864F	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN			16	2606	-			766					Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Silent	SNP	ENST00000438773.2	37	c.2592C>T	CCDS55278.1	.	.	.	.	.	.	.	.	.	.	G	7.715	0.695931	0.15106	.	.	ENSG00000167632	ENST00000520857	.	.	.	5.08	3.14	0.36123	.	.	.	.	.	T	0.60209	0.2251	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57911	-0.7729	4	.	.	.	.	10.6012	0.45369	0.2223:0.0:0.7777:0.0	.	.	.	.	F	610	.	.	L	-	1	0	TRAPPC9	141332191	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	3.643000	0.54374	1.360000	0.45960	0.650000	0.86243	CTT		0.448	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		8	51	0	0	0	1	0	8	51				
C16orf72	29035	broad.mit.edu	37	16	9186809	9186809	+	Silent	SNP	C	C	G	rs199733153		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr16:9186809C>G	ENST00000327827.7	+	2	655	c.258C>G	c.(256-258)ctC>ctG	p.L86L		NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN	chromosome 16 open reading frame 72	86										endometrium(4)|large_intestine(2)|lung(2)	8						GACTTTCTCTCTGGGTCCCCT	0.463																																						ENST00000327827.7																			0				endometrium(4)|large_intestine(2)|lung(2)	8						c.(256-258)ctC>ctG		chromosome 16 open reading frame 72							46.0	42.0	43.0					16																	9186809		2197	4300	6497	SO:0001819	synonymous_variant	29035							g.chr16:9186809C>G	AK123266	CCDS10538.1	16p13.2	2012-11-19			ENSG00000182831	ENSG00000182831			30103	protein-coding gene	gene with protein product						8889548	Standard	NM_014117		Approved	FLJ41272, PRO0149	uc002czm.3	Q14CZ0	OTTHUMG00000178147	ENST00000327827.7:c.258C>G	16.37:g.9186809C>G							p.L86L	NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN			2	655	+			86						Silent	SNP	ENST00000327827.7	37	c.258C>G	CCDS10538.1																																																																																				0.463	C16orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440760.2	NM_014117		4	12	0	0	0	1	0	4	12				
HYAL4	23553	broad.mit.edu	37	7	123508372	123508372	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr7:123508372A>T	ENST00000223026.4	+	3	683	c.45A>T	c.(43-45)caA>caT	p.Q15H	HYAL4_ENST00000476325.1_Missense_Mutation_p.Q15H	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	15					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|glycosaminoglycan catabolic process (GO:0006027)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	hyalurononglucosaminidase activity (GO:0004415)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						GTGTTGTTCAACCAGTACATC	0.343																																						ENST00000223026.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.(43-45)caA>caT		hyaluronoglucosaminidase 4							126.0	134.0	131.0					7																	123508372		2202	4300	6502	SO:0001583	missense	23553				fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity	g.chr7:123508372A>T	AF009010	CCDS5789.1	7q31.3	2010-01-14			ENSG00000106302	ENSG00000106302			5323	protein-coding gene	gene with protein product	"""hyaluronidase 4"""	604510				10493834	Standard	NM_012269		Approved		uc003vlc.3	Q2M3T9	OTTHUMG00000157349	ENST00000223026.4:c.45A>T	7.37:g.123508372A>T	ENSP00000223026:p.Gln15His					HYAL4_ENST00000476325.1_Missense_Mutation_p.Q15H	p.Q15H	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN			3	683	+			15					D0VXG1|Q9UL99|Q9Y6T9	Missense_Mutation	SNP	ENST00000223026.4	37	c.45A>T	CCDS5789.1	.	.	.	.	.	.	.	.	.	.	A	14.70	2.614447	0.46631	.	.	ENSG00000106302	ENST00000489978;ENST00000488323;ENST00000223026;ENST00000476325	T;T	0.18502	2.21;2.21	5.2	-4.36	0.03645	.	0.201547	0.43416	D	0.000567	T	0.06371	0.0164	N	0.08118	0	0.09310	N	1	B;B	0.14805	0.002;0.011	B;B	0.12156	0.007;0.005	T	0.16897	-1.0387	10	0.56958	D	0.05	-2.315	6.8023	0.23758	0.1971:0.1543:0.5472:0.1014	.	15;15	F8WDH9;Q2M3T9	.;HYAL4_HUMAN	H	15	ENSP00000223026:Q15H;ENSP00000417186:Q15H	ENSP00000223026:Q15H	Q	+	3	2	HYAL4	123295608	0.000000	0.05858	0.023000	0.16930	0.764000	0.43329	-0.293000	0.08320	-0.760000	0.04677	0.533000	0.62120	CAA		0.343	HYAL4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348545.1	NM_012269		10	37	0	0	0	1	0	10	37				
DEF6	50619	broad.mit.edu	37	6	35280093	35280093	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr6:35280093G>A	ENST00000316637.5	+	4	443	c.438G>A	c.(436-438)ctG>ctA	p.L146L	DEF6_ENST00000542066.1_Intron	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	146						cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						AATACCTGCTGAAAAAGGTAC	0.612																																						ENST00000316637.5																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						c.(436-438)ctG>ctA		differentially expressed in FDCP 6 homolog (mouse)							41.0	46.0	44.0					6																	35280093		2203	4300	6503	SO:0001819	synonymous_variant	50619					cytoplasm|nucleus|plasma membrane		g.chr6:35280093G>A	AJ276095	CCDS4802.1	6p21.33-p21.1	2013-01-10	2001-11-28		ENSG00000023892	ENSG00000023892		"""Pleckstrin homology (PH) domain containing"""	2760	protein-coding gene	gene with protein product	"""SWAP-70-like adaptor protein of T cells"""	610094	"""differentially expressed in FDCP (mouse homolog) 6"""			19251698	Standard	NM_022047		Approved	IBP, SLAT, SWAP70L	uc003okk.3	Q9H4E7	OTTHUMG00000014563	ENST00000316637.5:c.438G>A	6.37:g.35280093G>A						DEF6_ENST00000542066.1_Intron	p.L146L	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN			4	443	+			146					Q86VF4	Silent	SNP	ENST00000316637.5	37	c.438G>A	CCDS4802.1	.	.	.	.	.	.	.	.	.	.	G	8.743	0.919448	0.17982	.	.	ENSG00000023892	ENST00000444278	.	.	.	5.76	4.83	0.62350	.	.	.	.	.	T	0.53094	0.1775	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49072	-0.8977	4	.	.	.	-16.7316	11.8088	0.52171	0.0682:0.124:0.8078:0.0	.	.	.	.	K	55	.	.	E	+	1	0	DEF6	35388071	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.349000	0.33998	2.882000	0.98803	0.655000	0.94253	GAA		0.612	DEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040276.1	NM_022047		20	48	0	0	0	1	0	20	48				
STK17B	9262	broad.mit.edu	37	2	197004523	197004523	+	Splice_Site	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr2:197004523C>G	ENST00000263955.4	-	7	943	c.657G>C	c.(655-657)tgG>tgC	p.W219C	STK17B_ENST00000409228.1_Splice_Site_p.W219C	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b	219	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of fibroblast apoptotic process (GO:2000271)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			TACCAATATTCCTGAAAAACA	0.313																																						ENST00000263955.4																			0				breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15						c.e7-1		serine/threonine kinase 17b							78.0	82.0	81.0					2																	197004523		2203	4297	6500	SO:0001630	splice_region_variant	9262				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:197004523C>G	AB011421	CCDS2315.1	2q33.1	2008-02-05	2007-02-12		ENSG00000081320	ENSG00000081320			11396	protein-coding gene	gene with protein product	"""death-associated protein kinase-related 2"""	604727	"""serine/threonine kinase 17b (apoptosis-inducing)"""			9786912	Standard	NM_004226		Approved	DRAK2	uc002utk.3	O94768	OTTHUMG00000132735	ENST00000263955.4:c.657-1G>C	2.37:g.197004523C>G						STK17B_ENST00000409228.1_Splice_Site_p.W219_splice	p.W219_splice	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.141)		7	943	-			219			Protein kinase.			Splice_Site	SNP	ENST00000263955.4	37	c.656_splice	CCDS2315.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020998	0.75275	.	.	ENSG00000081320	ENST00000263955;ENST00000409228	T;T	0.68331	-0.32;-0.32	5.1	5.1	0.69264	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.47093	D	0.000245	D	0.90383	0.6990	H	0.99435	4.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94515	0.7722	10	0.87932	D	0	.	18.6949	0.91598	0.0:1.0:0.0:0.0	.	219	O94768	ST17B_HUMAN	C	219	ENSP00000263955:W219C;ENSP00000386853:W219C	ENSP00000263955:W219C	W	-	3	0	STK17B	196712768	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.150000	0.77403	2.642000	0.89623	0.591000	0.81541	TGG		0.313	STK17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256092.2		Missense_Mutation	4	27	0	0	0	1	0	4	27				
CLCA4	22802	broad.mit.edu	37	1	87033303	87033303	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:87033303C>T	ENST00000370563.3	+	7	1193	c.1151C>T	c.(1150-1152)tCc>tTc	p.S384F	CLCA4_ENST00000263723.5_Missense_Mutation_p.S97F	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	384	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		GGAGGAACTTCCATCTGCTCT	0.353																																						ENST00000370563.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(1150-1152)tCc>tTc		chloride channel accessory 4							75.0	74.0	74.0					1																	87033303		1880	4115	5995	SO:0001583	missense	22802					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:87033303C>T	AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"""chloride channel, calcium activated, family member 4"", ""chloride channel regulator 4"""			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.1151C>T	1.37:g.87033303C>T	ENSP00000359594:p.Ser384Phe					CLCA4_ENST00000263723.5_Missense_Mutation_p.S97F	p.S384F	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN		all cancers(265;0.0202)|Epithelial(280;0.0404)	7	1193	+		Lung NSC(277;0.238)	384			VWFA.		A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Missense_Mutation	SNP	ENST00000370563.3	37	c.1151C>T	CCDS41355.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.133062	0.56828	.	.	ENSG00000016602	ENST00000370563;ENST00000263723	T;T	0.14640	2.49;2.49	5.79	1.72	0.24424	von Willebrand factor, type A (3);	0.296961	0.28694	N	0.014454	T	0.13670	0.0331	M	0.92169	3.28	0.20074	N	0.999939	B	0.27450	0.179	B	0.40477	0.33	T	0.29212	-1.0019	10	0.87932	D	0	-0.4212	4.0323	0.09714	0.3441:0.3558:0.2294:0.0707	.	384	Q14CN2	CLCA4_HUMAN	F	384;97	ENSP00000359594:S384F;ENSP00000263723:S97F	ENSP00000263723:S97F	S	+	2	0	CLCA4	86805891	0.162000	0.22906	0.912000	0.35992	0.987000	0.75469	0.919000	0.28692	0.347000	0.23924	0.655000	0.94253	TCC		0.353	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128		9	21	0	0	0	1	0	9	21				
ADCY8	114	broad.mit.edu	37	8	131916134	131916134	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr8:131916134C>T	ENST00000286355.5	-	7	3887	c.1795G>A	c.(1795-1797)Gaa>Aaa	p.E599K	ADCY8_ENST00000377928.3_Missense_Mutation_p.E599K	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	599					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ACGATATCTTCAGGCAAGGAC	0.478										HNSCC(32;0.087)																												ENST00000286355.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(1795-1797)Gaa>Aaa		adenylate cyclase 8 (brain)							115.0	103.0	107.0					8																	131916134		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131916134C>T	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1795G>A	8.37:g.131916134C>T	ENSP00000286355:p.Glu599Lys	HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Missense_Mutation_p.E599K	p.E599K	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		7	3887	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		599						Missense_Mutation	SNP	ENST00000286355.5	37	c.1795G>A	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.009571	0.54361	.	.	ENSG00000155897	ENST00000286355;ENST00000377928;ENST00000522949	T;T;T	0.79940	-1.19;-1.2;-1.32	6.17	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.82314	0.5010	L	0.34521	1.04	0.45066	D	0.99808	D;D	0.63880	0.993;0.993	D;D	0.70935	0.971;0.971	T	0.77576	-0.2536	10	0.07644	T	0.81	.	16.0625	0.80847	0.135:0.865:0.0:0.0	.	599;599	E7EVL1;P40145	.;ADCY8_HUMAN	K	599;599;214	ENSP00000286355:E599K;ENSP00000367161:E599K;ENSP00000428010:E214K	ENSP00000286355:E599K	E	-	1	0	ADCY8	131985316	1.000000	0.71417	0.984000	0.44739	0.958000	0.62258	5.254000	0.65457	1.595000	0.50050	0.655000	0.94253	GAA		0.478	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			10	84	0	0	0	1	0	10	84				
ABCC3	8714	broad.mit.edu	37	17	48753913	48753913	+	Silent	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr17:48753913C>A	ENST00000285238.8	+	23	3422	c.3342C>A	c.(3340-3342)gtC>gtA	p.V1114V		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1114	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	TCACTGTGGTCATCCTGCCCC	0.592																																						ENST00000285238.8																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(3340-3342)gtC>gtA		ATP-binding cassette, sub-family C (CFTR/MRP), member 3	Glibenclamide(DB01016)						136.0	109.0	118.0					17																	48753913		2203	4300	6503	SO:0001819	synonymous_variant	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48753913C>A	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.3342C>A	17.37:g.48753913C>A							p.V1114V	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		23	3422	+			1114			ABC transmembrane type-1 2.		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Silent	SNP	ENST00000285238.8	37	c.3342C>A	CCDS32681.1																																																																																				0.592	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		41	82	1	0	4.32679e-17	1	5.01173e-17	41	82				
NIPAL1	152519	broad.mit.edu	37	4	48037979	48037979	+	Silent	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr4:48037979G>C	ENST00000295461.5	+	6	1089	c.1023G>C	c.(1021-1023)ctG>ctC	p.L341L		NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	341						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						TTGGGACCCTGAGTGGATTCT	0.398																																						ENST00000295461.5																			0				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						c.(1021-1023)ctG>ctC		NIPA-like domain containing 1							167.0	152.0	157.0					4																	48037979		2203	4300	6503	SO:0001819	synonymous_variant	152519					integral to membrane		g.chr4:48037979G>C	BC067881	CCDS3479.1	4p12	2009-03-24		2009-03-24	ENSG00000163293	ENSG00000163293			27194	protein-coding gene	gene with protein product				NPAL1			Standard	NM_207330		Approved	DKFZp686A06115	uc003gxw.3	Q6NVV3	OTTHUMG00000128622	ENST00000295461.5:c.1023G>C	4.37:g.48037979G>C							p.L341L	NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN			6	1089	+			341					B3KTB0|Q68DA9	Silent	SNP	ENST00000295461.5	37	c.1023G>C	CCDS3479.1																																																																																				0.398	NIPAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250491.4	NM_207330		13	38	0	0	0	1	0	13	38				
KLHL25	64410	broad.mit.edu	37	15	86312712	86312712	+	Silent	SNP	G	G	A	rs145878071	byFrequency	TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr15:86312712G>A	ENST00000337975.5	-	2	604	c.330C>T	c.(328-330)atC>atT	p.I110I	KLHL25_ENST00000536947.1_Silent_p.I110I|KLHL25_ENST00000559131.1_Intron|MIR1276_ENST00000408707.1_RNA	NM_022480.3	NP_071925.2	Q9H0H3	KLH25_HUMAN	kelch-like family member 25	110	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of translational initiation (GO:0006446)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						CGTTGATGGCGATGCGTGAGG	0.607													G|||	16	0.00319489	0.0	0.0	5008	,	,		21527	0.0159		0.0	False		,,,				2504	0.0					ENST00000337975.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						c.(328-330)atC>atT		kelch-like family member 25		G		1,4403	2.1+/-5.4	0,1,2201	97.0	88.0	91.0		330	4.8	1.0	15	dbSNP_134	91	0,8598		0,0,4299	no	coding-synonymous	KLHL25	NM_022480.3		0,1,6500	AA,AG,GG		0.0,0.0227,0.0077		110/590	86312712	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	64410					cytoplasm		g.chr15:86312712G>A		CCDS10339.1	15q25.3	2013-02-22	2013-02-22		ENSG00000183655	ENSG00000183655		"""Kelch-like"", ""BTB/POZ domain containing"""	25732	protein-coding gene	gene with protein product	"""ectodermal-neural cortex 2"""		"""kelch-like 25 (Drosophila)"""				Standard	XM_006720635		Approved	FLJ12587, ENC2, ENC-2	uc002bly.3	Q9H0H3	OTTHUMG00000148672	ENST00000337975.5:c.330C>T	15.37:g.86312712G>A						KLHL25_ENST00000536947.1_Silent_p.I110I|KLHL25_ENST00000559131.1_Intron	p.I110I	NM_022480.3	NP_071925.2	Q9H0H3	ENC2_HUMAN			2	604	-			110			BTB.		B2RDH2|B3KRT7	Silent	SNP	ENST00000337975.5	37	c.330C>T	CCDS10339.1																																																																																				0.607	KLHL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309023.1	NM_022480		23	51	0	0	0	1	0	23	51				
JAKMIP2	9832	broad.mit.edu	37	5	147040883	147040883	+	Silent	SNP	C	C	A	rs530786010		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr5:147040883C>A	ENST00000265272.5	-	3	722	c.255G>T	c.(253-255)ctG>ctT	p.L85L	JAKMIP2_ENST00000333010.6_Silent_p.L43L|JAKMIP2_ENST00000507386.1_Silent_p.L85L	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	85						Golgi apparatus (GO:0005794)				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACAGCCTGCAGCTCCTTCA	0.537													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18642	0.0		0.0	False		,,,				2504	0.0					ENST00000265272.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64						c.(253-255)ctG>ctT		janus kinase and microtubule interacting protein 2							175.0	162.0	166.0					5																	147040883		2203	4300	6503	SO:0001819	synonymous_variant	9832					Golgi apparatus		g.chr5:147040883C>A	AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.255G>T	5.37:g.147040883C>A						JAKMIP2_ENST00000507386.1_Silent_p.L85L|JAKMIP2_ENST00000333010.6_Silent_p.L43L	p.L85L	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	722	-			85					A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Silent	SNP	ENST00000265272.5	37	c.255G>T	CCDS4285.1																																																																																				0.537	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790		42	143	1	0	6.2361e-21	1	7.2795e-21	42	143				
ADRBK1	156	broad.mit.edu	37	11	67051382	67051382	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr11:67051382A>T	ENST00000308595.5	+	17	1743	c.1453A>T	c.(1453-1455)Att>Ttt	p.I485F	ADRBK1_ENST00000526285.1_Intron|ADRBK1_ENST00000527176.1_3'UTR	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	485	AGC-kinase C-terminal.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CGCCTTCGACATTGGCTCCTT	0.622																																						ENST00000308595.5																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22						c.(1453-1455)Att>Ttt		adrenergic, beta, receptor kinase 1	Adenosine triphosphate(DB00171)						29.0	30.0	30.0					11																	67051382		2200	4295	6495	SO:0001583	missense	156				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr11:67051382A>T	X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"""Pleckstrin homology (PH) domain containing"""	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.1453A>T	11.37:g.67051382A>T	ENSP00000312262:p.Ile485Phe					ADRBK1_ENST00000526285.1_Intron|ADRBK1_ENST00000527176.1_3'UTR	p.I485F	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		17	1743	+			485			AGC-kinase C-terminal.		B0ZBE1|Q13837|Q6GTT3	Missense_Mutation	SNP	ENST00000308595.5	37	c.1453A>T	CCDS8156.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.061073	0.76074	.	.	ENSG00000173020	ENST00000308595	T	0.53423	0.62	5.21	5.21	0.72293	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.48286	D	0.000188	T	0.73171	0.3553	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78499	-0.2180	10	0.56958	D	0.05	-7.5174	15.0557	0.71912	1.0:0.0:0.0:0.0	.	485	P25098	ARBK1_HUMAN	F	485	ENSP00000312262:I485F	ENSP00000312262:I485F	I	+	1	0	ADRBK1	66807958	1.000000	0.71417	1.000000	0.80357	0.244000	0.25665	8.772000	0.91757	2.099000	0.63709	0.482000	0.46254	ATT		0.622	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1	NM_001619		9	10	0	0	0	1	0	9	10				
HTR3A	3359	broad.mit.edu	37	11	113860273	113860273	+	Silent	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr11:113860273C>A	ENST00000504030.2	+	9	1670	c.1225C>A	c.(1225-1227)Cgg>Agg	p.R409R	HTR3A_ENST00000355556.2_Silent_p.R447R|HTR3A_ENST00000506841.2_Silent_p.R441R|HTR3A_ENST00000535865.1_Silent_p.R153R|HTR3A_ENST00000299961.5_Silent_p.R394R|HTR3A_ENST00000375498.2_Silent_p.R415R			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	409			R -> Q. {ECO:0000269|PubMed:16487942}.		cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	CCCACCACCTCGGGAGGCCTC	0.637																																						ENST00000504030.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36						c.(1225-1227)Cgg>Agg		5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						60.0	68.0	65.0					11																	113860273		2201	4296	6497	SO:0001819	synonymous_variant	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113860273C>A	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.1225C>A	11.37:g.113860273C>A						HTR3A_ENST00000299961.5_Silent_p.R394R|HTR3A_ENST00000506841.2_Silent_p.R441R|HTR3A_ENST00000355556.2_Silent_p.R447R|HTR3A_ENST00000535865.1_Silent_p.R153R|HTR3A_ENST00000375498.2_Silent_p.R415R	p.R409R			P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	9	1670	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	409		R -> Q.			B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Silent	SNP	ENST00000504030.2	37	c.1225C>A																																																																																					0.637	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		87	61	1	0	2.96794e-49	1	3.50544e-49	87	61				
AP4M1	9179	broad.mit.edu	37	7	99699579	99699579	+	Silent	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr7:99699579C>A	ENST00000359593.4	+	2	293	c.135C>A	c.(133-135)tcC>tcA	p.S45S	MCM7_ENST00000303887.5_5'Flank|MCM7_ENST00000343023.6_5'Flank|AP4M1_ENST00000422582.1_5'Flank|AP4M1_ENST00000429084.1_Silent_p.S45S|AP4M1_ENST00000421755.1_Silent_p.S45S|MCM7_ENST00000354230.3_5'Flank|AP4M1_ENST00000478501.1_3'UTR	NM_004722.3	NP_004713.2	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	45					Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|Golgi trans cisterna (GO:0000138)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAGACGAGTCCCCGGTTGTCA	0.682																																					Pancreas(174;1182 2812 29595 49511)	ENST00000429084.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17						c.(133-135)tcC>tcA		adaptor-related protein complex 4, mu 1 subunit							25.0	30.0	28.0					7																	99699579		2203	4300	6503	SO:0001819	synonymous_variant	9179				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity	g.chr7:99699579C>A	Y08387	CCDS5685.1	7q22.1	2012-06-29			ENSG00000221838	ENSG00000221838			574	protein-coding gene	gene with protein product	"""mu-adaptin-related protein-2"", ""mu subunit of AP-4"", ""AP-4 adapter complex mu subunit"", ""adaptor-related protein complex AP-4 mu4 subunit"""	602296				9013859, 10066790, 21620353	Standard	NM_004722		Approved	MU-ARP2, MU-4, SPG50	uc003utb.4	O00189	OTTHUMG00000154722	ENST00000359593.4:c.135C>A	7.37:g.99699579C>A						AP4M1_ENST00000478501.1_3'UTR|AP4M1_ENST00000421755.1_Silent_p.S45S|AP4M1_ENST00000359593.4_Silent_p.S45S	p.S45S			O00189	AP4M1_HUMAN			2	293	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		45					D6W5U1|Q8WV65|Q9UHK9	Silent	SNP	ENST00000359593.4	37	c.135C>A	CCDS5685.1																																																																																				0.682	AP4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336772.4	NM_004722		12	47	1	0	4.36969e-10	1	4.87326e-10	12	47				
EEF1A1	1915	broad.mit.edu	37	6	74228666	74228666	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr6:74228666G>C	ENST00000316292.9	-	3	1601	c.610C>G	c.(610-612)Cca>Gca	p.P204A	EEF1A1_ENST00000309268.6_Missense_Mutation_p.P204A|EEF1A1_ENST00000331523.2_Missense_Mutation_p.P204A|EEF1A1_ENST00000491404.1_Intron	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	204	tr-type G.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						TTAGCACTTGGCTCCAGCATG	0.428											OREG0003891	type=REGULATORY REGION|Gene=EEF1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000316292.9																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						c.(610-612)Cca>Gca		eukaryotic translation elongation factor 1 alpha 1							89.0	89.0	89.0					6																	74228666		2203	4300	6503	SO:0001583	missense	1915					cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr6:74228666G>C	BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"""leukocyte receptor cluster (LRC) member 7"""	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.610C>G	6.37:g.74228666G>C	ENSP00000339063:p.Pro204Ala		OREG0003891	type=REGULATORY REGION|Gene=EEF1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1151	EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000309268.6_Missense_Mutation_p.P204A|EEF1A1_ENST00000331523.2_Missense_Mutation_p.P204A	p.P204A	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN			3	1601	-			204					P04719|P04720|Q6IQ15	Missense_Mutation	SNP	ENST00000316292.9	37	c.610C>G	CCDS4980.1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.250247	0.22880	.	.	ENSG00000156508	ENST00000316292;ENST00000358190;ENST00000309268;ENST00000331523;ENST00000391977	T;T;T	0.40756	1.02;1.02;1.02	4.43	3.54	0.40534	Protein synthesis factor, GTP-binding (2);	0.135632	0.49916	U	0.000121	T	0.16085	0.0387	L	0.28504	0.86	0.53688	D	0.999977	B;B;B;B	0.12013	0.005;0.005;0.005;0.005	B;B;B;B	0.17722	0.019;0.019;0.019;0.019	T	0.03795	-1.1003	10	0.25106	T	0.35	.	14.0748	0.64882	0.0:0.0:0.8483:0.1517	.	204;204;204;204	P68104;Q53HR5;Q6IPS9;Q5VTE0	EF1A1_HUMAN;.;.;EF1A3_HUMAN	A	204;204;204;204;183	ENSP00000339063:P204A;ENSP00000339053:P204A;ENSP00000330054:P204A	ENSP00000339053:P204A	P	-	1	0	EEF1A1	74285387	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.839000	0.48207	0.963000	0.38082	0.549000	0.68633	CCA		0.428	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402		11	36	0	0	0	1	0	11	36				
OR5M9	390162	broad.mit.edu	37	11	56230395	56230395	+	Silent	SNP	A	A	G	rs145912919	byFrequency	TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr11:56230395A>G	ENST00000279791.1	-	1	482	c.483T>C	c.(481-483)acT>acC	p.T161T		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	161						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					ATAAGCCATAAGTCCATAGTG	0.428																																						ENST00000279791.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36						c.(481-483)acT>acC		olfactory receptor, family 5, subfamily M, member 9							93.0	95.0	94.0					11																	56230395		2201	4296	6497	SO:0001819	synonymous_variant	390162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56230395A>G	AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269		"""GPCR / Class A : Olfactory receptors"""	15294	protein-coding gene	gene with protein product							Standard	NM_001004743		Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.483T>C	11.37:g.56230395A>G							p.T161T	NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN			1	482	-	Esophageal squamous(21;0.00448)		161					Q6IEW5|Q96RB9	Silent	SNP	ENST00000279791.1	37	c.483T>C	CCDS31531.1																																																																																				0.428	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	NM_001004743		17	49	0	0	0	1	0	17	49				
RAB33B	83452	broad.mit.edu	37	4	140393939	140393939	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr4:140393939A>G	ENST00000305626.5	+	2	738	c.349A>G	c.(349-351)Acc>Gcc	p.T117A		NM_031296.1	NP_112586.1	Q9H082	RB33B_HUMAN	RAB33B, member RAS oncogene family	117					autophagy (GO:0006914)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of retrograde vesicle-mediated transport, Golgi to ER (GO:2000156)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_hematologic(180;0.162)					GTATGATATGACCAACATGGC	0.408																																						ENST00000305626.5																			0				large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						c.(349-351)Acc>Gcc		RAB33B, member RAS oncogene family							130.0	109.0	116.0					4																	140393939		2203	4300	6503	SO:0001583	missense	83452				protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding	g.chr4:140393939A>G	AF350420	CCDS3747.1	4q28	2008-02-05			ENSG00000172007	ENSG00000172007		"""RAB, member RAS oncogene"""	16075	protein-coding gene	gene with protein product		605950					Standard	NM_031296		Approved	DKFZP434G099	uc003ihv.3	Q9H082	OTTHUMG00000133384	ENST00000305626.5:c.349A>G	4.37:g.140393939A>G	ENSP00000306496:p.Thr117Ala						p.T117A	NM_031296.1	NP_112586.1	Q9H082	RB33B_HUMAN			2	738	+	all_hematologic(180;0.162)		117					B2R987|Q4W5B0	Missense_Mutation	SNP	ENST00000305626.5	37	c.349A>G	CCDS3747.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.796836	0.90453	.	.	ENSG00000172007	ENST00000305626	D	0.81821	-1.54	5.65	5.65	0.86999	Small GTP-binding protein domain (1);	0.044001	0.85682	N	0.000000	D	0.90635	0.7063	M	0.88512	2.96	0.80722	D	1	D	0.58268	0.982	D	0.64410	0.925	D	0.92398	0.5927	10	0.87932	D	0	.	15.8704	0.79115	1.0:0.0:0.0:0.0	.	117	Q9H082	RB33B_HUMAN	A	117	ENSP00000306496:T117A	ENSP00000306496:T117A	T	+	1	0	RAB33B	140613389	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.339000	0.96797	2.156000	0.67533	0.397000	0.26171	ACC		0.408	RAB33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257235.2	NM_031296		15	32	0	0	0	1	0	15	32				
SLITRK4	139065	broad.mit.edu	37	X	142716543	142716543	+	Silent	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chrX:142716543C>T	ENST00000381779.4	-	2	2607	c.2382G>A	c.(2380-2382)ctG>ctA	p.L794L	SLITRK4_ENST00000338017.4_Silent_p.L794L|SLITRK4_ENST00000356928.1_Silent_p.L794L	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	794						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TGCCACCTATCAGTGACTTCT	0.408																																						ENST00000381779.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60						c.(2380-2382)ctG>ctA		SLIT and NTRK-like family, member 4							143.0	126.0	132.0					X																	142716543		2203	4300	6503	SO:0001819	synonymous_variant	139065					integral to membrane		g.chrX:142716543C>T	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.2382G>A	X.37:g.142716543C>T						SLITRK4_ENST00000356928.1_Silent_p.L794L|SLITRK4_ENST00000338017.4_Silent_p.L794L	p.L794L	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN			2	2607	-	Acute lymphoblastic leukemia(192;6.56e-05)		794					Q5JXG3|Q8TCM8|Q96DL3	Silent	SNP	ENST00000381779.4	37	c.2382G>A	CCDS14679.1																																																																																				0.408	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		12	77	0	0	0	1	0	12	77				
ARHGAP26	23092	broad.mit.edu	37	5	142513633	142513633	+	Silent	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr5:142513633C>G	ENST00000274498.4	+	19	2178	c.1800C>G	c.(1798-1800)ccC>ccG	p.P600P	ARHGAP26_ENST00000378004.3_Silent_p.P600P	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	600	Ser-rich.				actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCGAGAGGCCCCTGACGCTCT	0.577																																						ENST00000378004.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25						c.(1798-1800)ccC>ccG		Rho GTPase activating protein 26							130.0	111.0	117.0					5																	142513633		2203	4300	6503	SO:0001819	synonymous_variant	23092				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chr5:142513633C>G	AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"""Rho GTPase activating proteins"""	17073	protein-coding gene	gene with protein product	"""GTPase regulator associated with the focal adhesion kinase pp125"""	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.1800C>G	5.37:g.142513633C>G						ARHGAP26_ENST00000274498.4_Silent_p.P600P	p.P600P	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		19	2155	+		all_hematologic(541;0.0416)	600			Ser-rich.		O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Silent	SNP	ENST00000274498.4	37	c.1800C>G	CCDS4277.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.512801	0.27123	.	.	ENSG00000145819	ENST00000443674;ENST00000418236	T;T	0.11385	2.78;3.5	5.95	3.08	0.35506	.	0.000000	0.85682	D	0.000000	T	0.18299	0.0439	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.00891	-1.1525	7	0.45353	T	0.12	.	9.3858	0.38342	0.2556:0.6759:0.0:0.0685	.	.	.	.	R	219;172	ENSP00000393276:P219R;ENSP00000416889:P172R	ENSP00000416889:P172R	P	+	2	0	ARHGAP26	142493826	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	0.698000	0.25571	0.825000	0.34637	0.655000	0.94253	CCC		0.577	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3	NM_015071		26	93	0	0	0	1	0	26	93				
KCND2	3751	broad.mit.edu	37	7	119915214	119915214	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr7:119915214G>C	ENST00000331113.4	+	1	1493	c.528G>C	c.(526-528)gaG>gaC	p.E176D		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	176					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	GGGCCTTCGAGAACCCCCACA	0.617																																						ENST00000331113.4																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75						c.(526-528)gaG>gaC		potassium voltage-gated channel, Shal-related subfamily, member 2							72.0	71.0	71.0					7																	119915214		2203	4300	6503	SO:0001583	missense	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119915214G>C	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.528G>C	7.37:g.119915214G>C	ENSP00000333496:p.Glu176Asp						p.E176D	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN			1	1493	+	all_neural(327;0.117)		176					O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	c.528G>C	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.987483	0.53934	.	.	ENSG00000184408	ENST00000331113	D	0.98012	-4.66	5.58	4.69	0.59074	.	0.000000	0.85682	D	0.000000	D	0.96090	0.8726	M	0.71036	2.16	0.50313	D	0.999864	B	0.34181	0.44	B	0.33295	0.161	D	0.94620	0.7812	9	.	.	.	.	12.0705	0.53613	0.1379:0.0:0.8621:0.0	.	176	Q9NZV8	KCND2_HUMAN	D	176	ENSP00000333496:E176D	.	E	+	3	2	KCND2	119702450	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.542000	0.67218	2.641000	0.89580	0.563000	0.77884	GAG		0.617	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		16	38	0	0	0	1	0	16	38				
APOB	338	broad.mit.edu	37	2	21234944	21234944	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr2:21234944C>T	ENST00000233242.1	-	26	4923	c.4796G>A	c.(4795-4797)cGt>cAt	p.R1599H		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1599					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.R1599H(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATATTCAGAACGCAGCAGTGC	0.413																																						ENST00000233242.1																			1	Substitution - Missense(1)	p.R1599H(1)	large_intestine(1)	NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(4795-4797)cGt>cAt		apolipoprotein B	Atorvastatin(DB01076)						102.0	87.0	92.0					2																	21234944		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21234944C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.4796G>A	2.37:g.21234944C>T	ENSP00000233242:p.Arg1599His						p.R1599H	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	4923	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1599					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.4796G>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.905977	0.92107	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00801	5.68	5.98	5.98	0.97165	.	0.096084	0.46145	D	0.000306	T	0.04998	0.0134	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.63957	0.92	T	0.20874	-1.0262	10	0.72032	D	0.01	.	20.4581	0.99154	0.0:1.0:0.0:0.0	.	1599	P04114	APOB_HUMAN	H	1599	ENSP00000233242:R1599H	ENSP00000233242:R1599H	R	-	2	0	APOB	21088449	0.995000	0.38212	0.987000	0.45799	0.424000	0.31475	1.778000	0.38614	2.835000	0.97688	0.650000	0.86243	CGT		0.413	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			7	40	0	0	0	1	0	7	40				
PRSS16	10279	broad.mit.edu	37	6	27222600	27222600	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr6:27222600T>A	ENST00000230582.3	+	10	1294	c.1279T>A	c.(1279-1281)Tcc>Acc	p.S427T	PRSS16_ENST00000377456.2_Intron|PRSS16_ENST00000421826.2_Missense_Mutation_p.S170T	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	427					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TCAGACGAACTCCTACTACGG	0.567																																					NSCLC(178;1118 2105 17078 23587 44429)	ENST00000230582.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(1279-1281)Tcc>Acc		protease, serine, 16 (thymus)							107.0	100.0	103.0					6																	27222600		2203	4300	6503	SO:0001583	missense	10279				protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	g.chr6:27222600T>A	AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"""Serine peptidases / Serine peptidases"""	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.1279T>A	6.37:g.27222600T>A	ENSP00000230582:p.Ser427Thr					PRSS16_ENST00000377456.2_Intron|PRSS16_ENST00000421826.2_Missense_Mutation_p.S170T	p.S427T	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN			10	1294	+			427					O75416	Missense_Mutation	SNP	ENST00000230582.3	37	c.1279T>A	CCDS4623.1	.	.	.	.	.	.	.	.	.	.	T	6.880	0.531714	0.13127	.	.	ENSG00000112812	ENST00000421826;ENST00000230582	T;T	0.14391	2.51;2.51	4.68	-3.44	0.04796	.	0.988403	0.08273	N	0.971041	T	0.01061	0.0035	N	0.04132	-0.27	0.25039	N	0.991217	B;B	0.25850	0.136;0.026	B;B	0.22880	0.042;0.023	T	0.45556	-0.9253	10	0.05959	T	0.93	-0.0643	5.9459	0.19219	0.2855:0.0:0.4384:0.2762	.	170;427	F2Z2N5;Q9NQE7	.;TSSP_HUMAN	T	170;427	ENSP00000404349:S170T;ENSP00000230582:S427T	ENSP00000230582:S427T	S	+	1	0	PRSS16	27330579	0.993000	0.37304	0.933000	0.37362	0.425000	0.31504	0.194000	0.17135	-0.247000	0.09597	0.455000	0.32223	TCC		0.567	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2			24	88	0	0	0	1	0	24	88				
GRIA3	2892	broad.mit.edu	37	X	122387299	122387299	+	Silent	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chrX:122387299C>A	ENST00000371251.1	+	3	466	c.414C>A	c.(412-414)gtC>gtA	p.V138V	GRIA3_ENST00000479118.1_3'UTR|GRIA3_ENST00000541091.1_Silent_p.V122V|GRIA3_ENST00000264357.5_Silent_p.V138V|GRIA3_ENST00000542149.1_Silent_p.V138V|GRIA3_ENST00000371256.5_Silent_p.V138V			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	138					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	TGCAGTTTGTCATCCAGATGC	0.512																																						ENST00000264357.5																			0				breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57						c.(412-414)gtC>gtA		glutamate receptor, ionotropic, AMPA 3	L-Glutamic Acid(DB00142)						127.0	104.0	112.0					X																	122387299		2203	4300	6503	SO:0001819	synonymous_variant	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122387299C>A	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.414C>A	X.37:g.122387299C>A						GRIA3_ENST00000542149.1_Silent_p.V138V|GRIA3_ENST00000479118.1_3'UTR|GRIA3_ENST00000541091.1_Silent_p.V122V|GRIA3_ENST00000371256.5_Silent_p.V138V|GRIA3_ENST00000371251.1_Silent_p.V138V	p.V138V	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN			3	706	+			138					D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Silent	SNP	ENST00000371251.1	37	c.414C>A	CCDS14604.1																																																																																				0.512	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		21	116	1	0	0.000132079	1	0.000137582	21	116				
CROCCP2	84809	broad.mit.edu	37	1	16946438	16946438	+	lincRNA	SNP	G	G	A	rs28392876	byFrequency	TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:16946438G>A	ENST00000412962.1	-	0	1081				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GCCTTCCGCCGGGCCAGCAGC	0.672																																						ENST00000412962.1																			0																																																			84809							g.chr1:16946438G>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946438G>A														0	1081	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		3	21	0	0	0	1	0	3	21				
TTF2	8458	broad.mit.edu	37	1	117619276	117619276	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:117619276G>C	ENST00000369466.4	+	7	1448	c.1404G>C	c.(1402-1404)aaG>aaC	p.K468N		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	468					ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CTAATGAGAAGAGTAACAGTC	0.507																																						ENST00000369466.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50						c.(1402-1404)aaG>aaC		transcription termination factor, RNA polymerase II							78.0	76.0	77.0					1																	117619276		2203	4300	6503	SO:0001583	missense	8458				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding	g.chr1:117619276G>C	AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 6"""	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.1404G>C	1.37:g.117619276G>C	ENSP00000358478:p.Lys468Asn						p.K468N	NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)	7	1448	+	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)	468					A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Missense_Mutation	SNP	ENST00000369466.4	37	c.1404G>C	CCDS892.1	.	.	.	.	.	.	.	.	.	.	G	6.902	0.535913	0.13188	.	.	ENSG00000116830	ENST00000369466	D	0.87650	-2.28	5.12	-1.52	0.08637	.	0.617327	0.13513	N	0.382287	T	0.62539	0.2436	L	0.41027	1.25	0.09310	N	1	B;B	0.11235	0.001;0.004	B;B	0.14578	0.002;0.011	T	0.54569	-0.8274	10	0.37606	T	0.19	-0.098	5.5259	0.16957	0.2573:0.4171:0.3256:0.0	.	468;468	Q9UNY4;Q9UNY4-2	TTF2_HUMAN;.	N	468	ENSP00000358478:K468N	ENSP00000358478:K468N	K	+	3	2	TTF2	117420799	0.477000	0.25909	0.008000	0.14137	0.032000	0.12392	0.378000	0.20569	-0.114000	0.11936	0.491000	0.48974	AAG		0.507	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3			9	78	0	0	0	1	0	9	78				
SMTN	6525	broad.mit.edu	37	22	31500330	31500330	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr22:31500330G>A	ENST00000347557.2	+	20	2850	c.2632G>A	c.(2632-2634)Gag>Aag	p.E878K	SMTN_ENST00000404574.1_3'UTR|SELM_ENST00000465536.1_5'Flank|SMTN_ENST00000333137.7_3'UTR|SMTN_ENST00000358743.1_Missense_Mutation_p.E901K	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	878	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GCCCCTGGTGGAGGTGGACGA	0.627																																						ENST00000358743.1																			0				breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						c.(2701-2703)Gag>Aag		smoothelin							211.0	150.0	171.0					22																	31500330		2203	4300	6503	SO:0001583	missense	6525				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle	g.chr22:31500330G>A	AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.2632G>A	22.37:g.31500330G>A	ENSP00000328635:p.Glu878Lys					SMTN_ENST00000347557.2_Missense_Mutation_p.E878K|SMTN_ENST00000333137.7_3'UTR|SMTN_ENST00000404574.1_3'UTR|RP3-412A9.10_ENST00000504335.1_RNA	p.E901K	NM_134270.2	NP_599032.2	P53814	SMTN_HUMAN			21	2919	+			878			CH.		O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Missense_Mutation	SNP	ENST00000347557.2	37	c.2701G>A	CCDS13886.1	.	.	.	.	.	.	.	.	.	.	G	36	5.964291	0.97151	.	.	ENSG00000183963	ENST00000358743;ENST00000347557	T;D	0.95307	-0.03;-3.67	5.27	5.27	0.74061	Calponin homology domain (5);	0.000000	0.34507	N	0.003905	D	0.96448	0.8841	M	0.70787	2.145	0.80722	D	1	D;B	0.67145	0.996;0.216	P;B	0.58331	0.837;0.206	D	0.96764	0.9563	10	0.87932	D	0	.	19.2685	0.93998	0.0:0.0:1.0:0.0	.	901;878	E7EWD0;P53814	.;SMTN_HUMAN	K	901;878	ENSP00000351593:E901K;ENSP00000328635:E878K	ENSP00000328635:E878K	E	+	1	0	SMTN	29830330	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.781000	0.99029	2.642000	0.89623	0.549000	0.68633	GAG		0.627	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	NM_134270		12	86	0	0	0	1	0	12	86				
SEMA4C	54910	broad.mit.edu	37	2	97531481	97531481	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr2:97531481G>A	ENST00000305476.5	-	5	474	c.342C>T	c.(340-342)atC>atT	p.I114I		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	114	Dominant negative effect on myogenic differentiation. {ECO:0000250}.|Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell migration in hindbrain (GO:0021535)|cerebellum development (GO:0021549)|muscle cell differentiation (GO:0042692)|neural tube closure (GO:0001843)|positive regulation of stress-activated MAPK cascade (GO:0032874)|semaphorin-plexin signaling pathway (GO:0071526)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle membrane (GO:0030672)	receptor activity (GO:0004872)			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GCAGGAAGCGGATGAAGTTGA	0.612																																						ENST00000305476.5																			0				NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						c.(340-342)atC>atT		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C							160.0	143.0	149.0					2																	97531481		2203	4300	6503	SO:0001819	synonymous_variant	54910				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity	g.chr2:97531481G>A	AB051526	CCDS2029.1	2q11.2	2013-01-11			ENSG00000168758	ENSG00000168758		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10731	protein-coding gene	gene with protein product	"""M-Sema F"""	604462		SEMAI		7656991	Standard	NM_017789		Approved	Semacl1, Semaf	uc002sxh.4	Q9C0C4	OTTHUMG00000130535	ENST00000305476.5:c.342C>T	2.37:g.97531481G>A							p.I114I	NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN			5	474	-			114			Dominant negative effect on myogenic differentiation (By similarity).|Sema.		Q32MJ3|Q7Z5X0	Silent	SNP	ENST00000305476.5	37	c.342C>T	CCDS2029.1																																																																																				0.612	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252957.1	NM_017789		6	40	0	0	0	1	0	6	40				
C14orf79	122616	broad.mit.edu	37	14	105452973	105452973	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr14:105452973C>G	ENST00000547315.1	+	1	844	c.205C>G	c.(205-207)Cct>Gct	p.P69A	C14orf79_ENST00000550614.1_5'Flank	NM_174891.3	NP_777551.2	Q96F83	CN079_HUMAN	chromosome 14 open reading frame 79	69										breast(1)|endometrium(1)|lung(1)	3		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)			TGCCCGATGTCCTGACCCTGG	0.582																																						ENST00000547315.1																			0				breast(1)|endometrium(1)|lung(1)	3						c.(205-207)Cct>Gct		chromosome 14 open reading frame 79							60.0	69.0	66.0					14																	105452973		2028	4180	6208	SO:0001583	missense	122616							g.chr14:105452973C>G		CCDS42000.1	14q32.33	2012-09-25			ENSG00000140104	ENSG00000140104			20126	protein-coding gene	gene with protein product							Standard	NM_174891		Approved		uc001ypy.1	Q96F83	OTTHUMG00000170474	ENST00000547315.1:c.205C>G	14.37:g.105452973C>G	ENSP00000450114:p.Pro69Ala						p.P69A	NM_174891.3	NP_777551.2	Q96F83	CN079_HUMAN	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)		1	844	+		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	69					B2RPK9|Q9BTP4	Missense_Mutation	SNP	ENST00000547315.1	37	c.205C>G	CCDS42000.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.539154	0.27475	.	.	ENSG00000140104	ENST00000547315	.	.	.	3.34	1.32	0.21799	.	.	.	.	.	T	0.35653	0.0939	M	0.63428	1.95	0.09310	N	0.999996	B	0.31459	0.324	B	0.25987	0.065	T	0.29912	-0.9996	8	0.87932	D	0	1.1973	5.8563	0.18722	0.2212:0.5637:0.215:0.0	.	69	Q96F83	CN079_HUMAN	A	69	.	ENSP00000374614:P69A	P	+	1	0	C14orf79	104524018	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	0.132000	0.15891	0.042000	0.15717	0.306000	0.20318	CCT		0.582	C14orf79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409318.1	NM_174891		19	49	0	0	0	1	0	19	49				
XPOT	11260	broad.mit.edu	37	12	64813997	64813997	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr12:64813997G>T	ENST00000332707.5	+	7	1166	c.637G>T	c.(637-639)Gtc>Ttc	p.V213F		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	213	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		TGGGGCTTATGTCTCTTGGAT	0.333																																						ENST00000332707.5																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(637-639)Gtc>Ttc		exportin, tRNA							122.0	125.0	124.0					12																	64813997		2203	4300	6503	SO:0001583	missense	11260				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	g.chr12:64813997G>T	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.637G>T	12.37:g.64813997G>T	ENSP00000327821:p.Val213Phe						p.V213F	NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN		GBM - Glioblastoma multiforme(28;0.0404)	7	1166	+			213			Necessary for interaction with Ran, nuclear localization and nuclear import.		A6NLH1|O43784|Q8WUG2|Q9BVS7	Missense_Mutation	SNP	ENST00000332707.5	37	c.637G>T	CCDS31852.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.991055	0.93106	.	.	ENSG00000184575	ENST00000332707	T	0.50548	0.74	4.89	4.89	0.63831	Exportin-1/Importin-beta-like (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65709	0.2717	M	0.86028	2.79	0.80722	D	1	P	0.48503	0.911	P	0.51516	0.672	T	0.70757	-0.4785	9	.	.	.	.	18.9398	0.92601	0.0:0.0:1.0:0.0	.	213	O43592	XPOT_HUMAN	F	213	ENSP00000327821:V213F	.	V	+	1	0	XPOT	63100264	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.655000	0.98512	2.649000	0.89929	0.655000	0.94253	GTC		0.333	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		12	39	1	0	7.03913e-09	1	7.67905e-09	12	39				
RIPK3	11035	broad.mit.edu	37	14	24806948	24806948	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr14:24806948C>A	ENST00000216274.5	-	7	1071	c.853G>T	c.(853-855)Gaa>Taa	p.E285*	ADCY4_ENST00000310677.4_5'Flank|RP11-934B9.3_ENST00000555591.1_5'Flank|ADCY4_ENST00000418030.2_5'Flank|ADCY4_ENST00000554068.2_5'Flank|RIPK3_ENST00000554338.1_5'Flank|ADCY4_ENST00000558563.1_5'Flank|ADCY4_ENST00000396747.3_5'Flank	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	285	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|amyloid fibril formation (GO:1990000)|apoptotic signaling pathway (GO:0097190)|cellular protein modification process (GO:0006464)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of ligase activity (GO:0051351)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein deacetylation (GO:0090312)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of activated T cell proliferation (GO:0046006)|regulation of activation-induced cell death of T cells (GO:0070235)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000452)|regulation of interferon-gamma production (GO:0032649)|regulation of T cell mediated cytotoxicity (GO:0001914)|signal transduction (GO:0007165)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|NF-kappaB-inducing kinase activity (GO:0004704)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		TGGAAGACTTCATCAGTTTTT	0.527																																					Pancreas(58;918 1191 4668 13304 15331)	ENST00000216274.5																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(853-855)Gaa>Taa		receptor-interacting serine-threonine kinase 3							154.0	130.0	138.0					14																	24806948		2203	4300	6503	SO:0001587	stop_gained	11035				apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity	g.chr14:24806948C>A	AF156884	CCDS9628.1	14q12	2006-05-15			ENSG00000129465	ENSG00000129465			10021	protein-coding gene	gene with protein product		605817				10339433, 10358032	Standard	NM_006871		Approved	RIP3	uc001wpb.3	Q9Y572	OTTHUMG00000029349	ENST00000216274.5:c.853G>T	14.37:g.24806948C>A	ENSP00000216274:p.Glu285*						p.E285*	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN		GBM - Glioblastoma multiforme(265;0.0181)	7	1071	-			285			Protein kinase.		B4DJL9|C4AM87|Q5J795|Q5J796|Q6P5Y1	Nonsense_Mutation	SNP	ENST00000216274.5	37	c.853G>T	CCDS9628.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.555368	0.65425	.	.	ENSG00000129465	ENST00000216274	.	.	.	4.67	-5.54	0.02544	.	2.098000	0.01689	N	0.026565	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	3.8381	13.4244	0.61018	0.0:0.2532:0.0:0.7468	.	.	.	.	X	285	.	ENSP00000216274:E285X	E	-	1	0	RIPK3	23876788	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.610000	0.02064	-1.308000	0.02318	0.655000	0.94253	GAA		0.527	RIPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073203.4	NM_006871		4	18	1	0	0.184627	1	0.185245	4	18				
TOPORS	10210	broad.mit.edu	37	9	32542610	32542610	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr9:32542610C>G	ENST00000360538.2	-	3	2029	c.1913G>C	c.(1912-1914)aGa>aCa	p.R638T	TOPORS_ENST00000379858.1_Missense_Mutation_p.R573T	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	638	Arg-rich.|Interaction with SUMO1.|Interaction with TOP1.|Interaction with p53/TP53.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TCTTCTCCCTCTAGGTCTGCT	0.423																																						ENST00000360538.2																			0				large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(1912-1914)aGa>aCa		topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase							386.0	364.0	372.0					9																	32542610		2203	4300	6503	SO:0001583	missense	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32542610C>G	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.1913G>C	9.37:g.32542610C>G	ENSP00000353735:p.Arg638Thr					TOPORS_ENST00000379858.1_Missense_Mutation_p.R573T	p.R638T	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	2029	-			638			Arg-rich.|Interaction with SUMO1.|Interaction with TOP1.|Interaction with p53/TP53.		O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	c.1913G>C	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.365666	0.24684	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.16073	2.37;2.42	6.16	5.18	0.71444	.	0.000000	0.56097	D	0.000035	T	0.11367	0.0277	N	0.14661	0.345	0.22684	N	0.998852	P	0.52842	0.956	P	0.47528	0.549	T	0.19063	-1.0317	10	0.41790	T	0.15	-11.4248	5.0229	0.14370	0.0:0.7439:0.0:0.2561	.	638	Q9NS56	TOPRS_HUMAN	T	638;573	ENSP00000353735:R638T;ENSP00000369187:R573T	ENSP00000353735:R638T	R	-	2	0	TOPORS	32532610	0.650000	0.27331	0.947000	0.38551	0.915000	0.54546	1.010000	0.29898	2.937000	0.99478	0.650000	0.86243	AGA		0.423	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		31	93	0	0	0	1	0	31	93				
TM7SF3	51768	broad.mit.edu	37	12	27132839	27132839	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr12:27132839C>T	ENST00000343028.4	-	9	1292	c.1067G>A	c.(1066-1068)aGc>aAc	p.S356N	TM7SF3_ENST00000542667.1_5'UTR|RP11-421F16.3_ENST00000500632.1_RNA	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	356						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					TCCACCGACGCTTCCAGTGAC	0.502																																						ENST00000343028.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(1066-1068)aGc>aAc		transmembrane 7 superfamily member 3							136.0	106.0	116.0					12																	27132839		2203	4300	6503	SO:0001583	missense	51768					integral to membrane|plasma membrane		g.chr12:27132839C>T	AB032470	CCDS8710.1	12q11-q12	2012-08-10			ENSG00000064115	ENSG00000064115			23049	protein-coding gene	gene with protein product		605181				10828615	Standard	NM_016551		Approved		uc010sjl.2	Q9NS93	OTTHUMG00000169243	ENST00000343028.4:c.1067G>A	12.37:g.27132839C>T	ENSP00000342322:p.Ser356Asn					TM7SF3_ENST00000542667.1_5'UTR	p.S356N	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN			9	1292	-	Colorectal(261;0.0847)		356					B3KMZ3|Q9NUS4	Missense_Mutation	SNP	ENST00000343028.4	37	c.1067G>A	CCDS8710.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.648968	0.47362	.	.	ENSG00000064115	ENST00000343028;ENST00000545344	T	0.31769	1.48	5.58	4.68	0.58851	.	0.277125	0.41001	D	0.000969	T	0.25938	0.0632	L	0.44542	1.39	0.09310	N	0.999991	P	0.38677	0.642	B	0.37015	0.239	T	0.20605	-1.0270	10	0.62326	D	0.03	-5.6064	9.6258	0.39750	0.2694:0.6155:0.1151:0.0	.	356	Q9NS93	TM7S3_HUMAN	N	356;70	ENSP00000342322:S356N	ENSP00000342322:S356N	S	-	2	0	TM7SF3	27024106	0.836000	0.29430	0.052000	0.19188	0.018000	0.09664	4.060000	0.57477	1.477000	0.48234	0.655000	0.94253	AGC		0.502	TM7SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403033.1	NM_016551		11	36	0	0	0	1	0	11	36				
SLC12A6	9990	broad.mit.edu	37	15	34610823	34610823	+	Intron	SNP	C	C	A	rs200355116		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr15:34610823C>A	ENST00000354181.3	-	2	764				SLC12A6_ENST00000290209.5_Silent_p.S19S|SLC12A6_ENST00000397707.2_Intron|SLC12A6_ENST00000458406.2_Intron|SLC12A6_ENST00000397702.2_Intron|SLC12A6_ENST00000558667.1_Intron|SLC12A6_ENST00000560611.1_Intron|SLC12A6_ENST00000558589.1_Intron			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6						angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CTTGAGAGATCGAAGCCGCTG	0.428																																						ENST00000290209.5																			0				central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45						c.(55-57)tcG>tcT		solute carrier family 12 (potassium/chloride transporter), member 6	Potassium Chloride(DB00761)						96.0	94.0	94.0					15																	34610823		2201	4298	6499	SO:0001627	intron_variant	9990				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	g.chr15:34610823C>A	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.271+17787G>T	15.37:g.34610823C>A						SLC12A6_ENST00000458406.2_Intron|SLC12A6_ENST00000397702.2_Intron|SLC12A6_ENST00000397707.2_Intron|SLC12A6_ENST00000354181.3_Intron|SLC12A6_ENST00000560611.1_Intron|SLC12A6_ENST00000558589.1_Intron|SLC12A6_ENST00000558667.1_Intron	p.S19S	NM_005135.2	NP_005126.1	Q9UHW9	S12A6_HUMAN		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	1	157	-		all_lung(180;2.78e-08)	72					A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Silent	SNP	ENST00000354181.3	37	c.57G>T	CCDS58352.1																																																																																				0.428	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		11	39	1	0	6.42651e-13	1	7.3586e-13	11	39				
SPDYE3	441272	broad.mit.edu	37	7	99912207	99912207	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr7:99912207G>T	ENST00000332397.6	+	6	1219	c.1035G>T	c.(1033-1035)aaG>aaT	p.K345N	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	345										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GCAAAAGGAAGAGGGAGTGTT	0.577																																						ENST00000332397.6																			0				endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						c.(1033-1035)aaG>aaT		speedy/RINGO cell cycle regulator family member E3																																				SO:0001583	missense	441272							g.chr7:99912207G>T	BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300		"""Speedy homologs"""	35462	protein-coding gene	gene with protein product			"""speedy homolog E3 (Xenopus laevis)"""				Standard	NM_001004351		Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.1035G>T	7.37:g.99912207G>T	ENSP00000329565:p.Lys345Asn					SPDYE3_ENST00000437326.2_5'UTR	p.K345N	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN			6	1219	+			345					Q495Y9|Q6PHC4	Missense_Mutation	SNP	ENST00000332397.6	37	c.1035G>T	CCDS47658.2	.	.	.	.	.	.	.	.	.	.	G	4.912	0.169550	0.09339	.	.	ENSG00000214300	ENST00000332397	.	.	.	.	.	.	.	.	.	.	.	T	0.44726	0.1307	L	0.61218	1.895	0.09310	N	0.999998	.	.	.	.	.	.	T	0.43556	-0.9384	4	0.87932	D	0	.	.	.	.	.	.	.	.	N	345	.	ENSP00000329565:K345N	K	+	3	2	SPDYE3	99750143	0.990000	0.36364	0.035000	0.18076	0.042000	0.13812	0.754000	0.26390	0.151000	0.19162	0.154000	0.16183	AAG		0.577	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340224.2	NM_001004351		14	28	1	0	3.51602e-12	1	3.99547e-12	14	28				
WHAMMP3	339005	broad.mit.edu	37	15	23205108	23205108	+	RNA	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr15:23205108C>T	ENST00000400153.2	-	0	746					NR_003521.1		Q1A5X7	WHAL1_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3																		GTGGTTGCCACGGTAACTAAT	0.393																																						ENST00000400153.2																			0																																																			339005							g.chr15:23205108C>T	BC048987		15q11.2	2014-03-20	2011-06-24	2011-06-24	ENSG00000187667	ENSG00000276141			27892	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1 (pseudogene)"""	WHDC1L1, WHAMML1		18226259	Standard	NR_003521		Approved		uc001yvg.3	Q1A5X7	OTTHUMG00000171921		15.37:g.23205108C>T								NR_003521.1						0	746	-								Q1A5X8|Q52M16|Q52M18	RNA	SNP	ENST00000400153.2	37																																																																																						0.393	WHAMMP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415907.1	NR_003521		3	8	0	0	0	1	0	3	8				
CYLC1	1538	broad.mit.edu	37	X	83129133	83129133	+	Missense_Mutation	SNP	A	A	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chrX:83129133A>C	ENST00000329312.4	+	4	1454	c.1417A>C	c.(1417-1419)Aaa>Caa	p.K473Q		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	473					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GAAAGATGACAAAAAGAAGGA	0.358																																						ENST00000329312.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(1417-1419)Aaa>Caa		cylicin, basic protein of sperm head cytoskeleton 1							45.0	39.0	41.0					X																	83129133		2200	4295	6495	SO:0001583	missense	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83129133A>C	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.1417A>C	X.37:g.83129133A>C	ENSP00000331556:p.Lys473Gln						p.K473Q	NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN			4	1454	+			473					A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	c.1417A>C	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	a	7.250	0.603015	0.13939	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.57752	0.38	2.63	2.63	0.31362	.	.	.	.	.	T	0.41282	0.1152	L	0.42744	1.35	0.09310	N	1	P;P	0.39250	0.665;0.665	B;B	0.37943	0.261;0.261	T	0.22730	-1.0208	9	0.40728	T	0.16	0.6826	6.407	0.21670	1.0:0.0:0.0:0.0	.	473;473	P35663;F5H4V5	CYLC1_HUMAN;.	Q	473	ENSP00000331556:K473Q	ENSP00000331556:K473Q	K	+	1	0	CYLC1	83015789	0.027000	0.19231	0.003000	0.11579	0.002000	0.02628	1.296000	0.33389	1.307000	0.44944	0.486000	0.48141	AAA		0.358	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		3	12	0	0	0	1	0	3	12				
PTPRZ1	5803	broad.mit.edu	37	7	121612621	121612621	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr7:121612621C>A	ENST00000393386.2	+	4	742	c.331C>A	c.(331-333)Cgt>Agt	p.R111S	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.R111S	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	111	Alpha-carbonic anhydrase.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TAATGACTACCGTGTCAGCGG	0.333																																						ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(331-333)Cgt>Agt		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							110.0	106.0	107.0					7																	121612621		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121612621C>A	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.331C>A	7.37:g.121612621C>A	ENSP00000377047:p.Arg111Ser					PTPRZ1_ENST00000449182.1_Missense_Mutation_p.R111S	p.R111S	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			4	742	+			111			Alpha-carbonic anhydrase.		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.331C>A	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.804074	0.50315	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.64803	-0.12;-0.12	5.85	4.96	0.65561	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.491285	0.21104	N	0.080119	T	0.38585	0.1046	N	0.12637	0.245	0.29788	N	0.833419	B;B	0.31485	0.117;0.325	B;B	0.21917	0.022;0.037	T	0.41716	-0.9493	10	0.66056	D	0.02	.	6.6093	0.22743	0.0:0.6921:0.0:0.3079	.	111;111	C9JFM0;P23471	.;PTPRZ_HUMAN	S	111	ENSP00000377047:R111S;ENSP00000410000:R111S	ENSP00000377047:R111S	R	+	1	0	PTPRZ1	121399857	1.000000	0.71417	0.997000	0.53966	0.854000	0.48673	2.904000	0.48719	1.451000	0.47736	0.603000	0.83216	CGT		0.333	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		12	29	1	0	2.27111e-07	1	2.41607e-07	12	29				
COL22A1	169044	broad.mit.edu	37	8	139601678	139601678	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr8:139601678G>C	ENST00000303045.6	-	65	5145	c.4699C>G	c.(4699-4701)Ccc>Gcc	p.P1567A	COL22A1_ENST00000435777.1_Missense_Mutation_p.P1547A|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1567	Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGTTCCCCGGGTTGACCTGGC	0.577										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(4699-4701)Ccc>Gcc		collagen, type XXII, alpha 1							35.0	31.0	32.0					8																	139601678		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139601678G>C	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4699C>G	8.37:g.139601678G>C	ENSP00000303153:p.Pro1567Ala	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Missense_Mutation_p.P1547A|COL22A1_ENST00000341807.4_5'UTR	p.P1567A	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		65	5145	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1567			Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.4699C>G	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.910900	0.33721	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.93307	-3.2;-3.2	5.52	5.52	0.82312	.	0.000000	0.49916	D	0.000133	D	0.92737	0.7691	L	0.52573	1.65	0.43622	D	0.996007	P;P	0.37370	0.468;0.592	P;B	0.47206	0.541;0.306	D	0.89585	0.3823	10	0.17832	T	0.49	.	14.4071	0.67090	0.0:0.1473:0.8527:0.0	.	1547;1567	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	A	1567;1547;1260	ENSP00000303153:P1567A;ENSP00000387655:P1547A	ENSP00000303153:P1567A	P	-	1	0	COL22A1	139670860	1.000000	0.71417	0.998000	0.56505	0.764000	0.43329	5.219000	0.65262	2.752000	0.94435	0.655000	0.94253	CCC		0.577	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		3	15	0	0	0	1	0	3	15				
FSCB	84075	broad.mit.edu	37	14	44976017	44976017	+	Silent	SNP	A	A	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr14:44976017A>T	ENST00000340446.4	-	1	465	c.174T>A	c.(172-174)acT>acA	p.T58T	RP11-163M18.1_ENST00000556228.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	58						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TCTTTGTCCAAGTTTGCTGAA	0.423																																						ENST00000340446.4																			0				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89						c.(172-174)acT>acA		fibrous sheath CABYR binding protein							158.0	156.0	156.0					14																	44976017		2203	4300	6503	SO:0001819	synonymous_variant	84075					cilium		g.chr14:44976017A>T	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.174T>A	14.37:g.44976017A>T							p.T58T	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	465	-			58					Q5H9U7|Q86YI2|Q9H0J3	Silent	SNP	ENST00000340446.4	37	c.174T>A	CCDS9679.1																																																																																				0.423	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		16	73	0	0	0	1	0	16	73				
JAK3	3718	broad.mit.edu	37	19	17942116	17942116	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr19:17942116C>G	ENST00000527670.1	-	20	2928	c.2899G>C	c.(2899-2901)Gac>Cac	p.D967H	JAK3_ENST00000534444.1_Missense_Mutation_p.D967H|JAK3_ENST00000458235.1_Missense_Mutation_p.D967H			P52333	JAK3_HUMAN	Janus kinase 3	967	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	AGGCCGAAGTCAGCGATCTTG	0.657		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																	ENST00000458235.1		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			"""acute megakaryocytic leukemia, ETP ALL"""		0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						c.(2899-2901)Gac>Cac		Janus kinase 3							138.0	120.0	126.0					19																	17942116		2203	4300	6503	SO:0001583	missense	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17942116C>G	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.2899G>C	19.37:g.17942116C>G	ENSP00000432511:p.Asp967His					JAK3_ENST00000534444.1_Missense_Mutation_p.D967H|JAK3_ENST00000527670.1_Missense_Mutation_p.D967H	p.D967H	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN			21	2998	-			967			Protein kinase 2.		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	37	c.2899G>C	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.779154	0.90195	.	.	ENSG00000105639	ENST00000458235;ENST00000527670;ENST00000534444	D;D;D	0.98150	-2.37;-2.37;-4.75	3.28	3.28	0.37604	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.133751	0.47455	D	0.000225	D	0.99061	0.9678	H	0.97103	3.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.98813	1.0744	10	0.87932	D	0	-33.9648	12.8641	0.57930	0.0:1.0:0.0:0.0	.	967;967	P52333-2;P52333	.;JAK3_HUMAN	H	967	ENSP00000391676:D967H;ENSP00000432511:D967H;ENSP00000436421:D967H	ENSP00000391676:D967H	D	-	1	0	JAK3	17803116	1.000000	0.71417	0.968000	0.41197	0.936000	0.57629	7.670000	0.83925	1.799000	0.52666	0.462000	0.41574	GAC		0.657	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		26	130	0	0	0	1	0	26	130				
MACF1	23499	broad.mit.edu	37	1	39798666	39798666	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:39798666C>T	ENST00000372915.3	+	36	6508	c.6421C>T	c.(6421-6423)Cct>Tct	p.P2141S	MACF1_ENST00000289893.4_Missense_Mutation_p.P576S|MACF1_ENST00000567887.1_Missense_Mutation_p.P2173S|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000564288.1_Missense_Mutation_p.P2136S|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2141					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GACCATACCTCCTGCTGAGGC	0.463																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(6406-6408)Cct>Tct		microtubule-actin crosslinking factor 1							55.0	53.0	53.0					1																	39798666		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39798666C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.6421C>T	1.37:g.39798666C>T	ENSP00000362006:p.Pro2141Ser					MACF1_ENST00000476350.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.P2173S|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.P576S|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.P2141S	p.P2136S			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		37	7183	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2141					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.6406C>T		.	.	.	.	.	.	.	.	.	.	C	0.035	-1.311825	0.01342	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.64085	-0.08;0.98	5.53	0.0528	0.14304	.	0.372474	0.22997	N	0.053139	T	0.40119	0.1104	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.27123	-1.0083	10	0.62326	D	0.03	.	5.4172	0.16380	0.227:0.52:0.0:0.253	.	2141	Q9UPN3	MACF1_HUMAN	S	2141;576	ENSP00000362006:P2141S;ENSP00000289893:P576S	ENSP00000289893:P576S	P	+	1	0	MACF1	39571253	0.000000	0.05858	0.198000	0.23420	0.043000	0.13939	-0.587000	0.05780	0.097000	0.17492	-0.363000	0.07495	CCT		0.463	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		21	26	0	0	0	1	0	21	26				
BAHCC1	57597	broad.mit.edu	37	17	79409906	79409906	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr17:79409906C>T	ENST00000307745.7	+	9	1531	c.1531C>T	c.(1531-1533)Ccg>Tcg	p.P511S																								TCACCAGGACCCGCTGGGCGG	0.657																																						ENST00000307745.7																			0											c.(1531-1533)Ccg>Tcg									18.0	21.0	20.0					17																	79409906		1856	4076	5932	SO:0001583	missense	57597							g.chr17:79409906C>T																												ENST00000307745.7:c.1531C>T	17.37:g.79409906C>T	ENSP00000303486:p.Pro511Ser						p.P511S							9	1531	+									Missense_Mutation	SNP	ENST00000307745.7	37	c.1531C>T		.	.	.	.	.	.	.	.	.	.	c	11.75	1.732961	0.30684	.	.	ENSG00000171282	ENST00000307745	T	0.16324	2.35	4.15	3.18	0.36537	.	.	.	.	.	T	0.10294	0.0252	L	0.29908	0.895	0.22601	N	0.998943	B	0.06786	0.001	B	0.04013	0.001	T	0.32268	-0.9913	9	0.23891	T	0.37	.	2.8287	0.05492	0.1844:0.5344:0.1792:0.102	.	511	Q9P281	BAHC1_HUMAN	S	511	ENSP00000303486:P511S	ENSP00000303486:P511S	P	+	1	0	AC110285.1	77024501	0.000000	0.05858	0.863000	0.33907	0.862000	0.49288	0.065000	0.14466	0.970000	0.38263	0.306000	0.20318	CCG		0.657	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				6	32	0	0	0	1	0	6	32				
MCM8	84515	broad.mit.edu	37	20	5932699	5932699	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr20:5932699G>A	ENST00000378896.3	+	2	415	c.38G>A	c.(37-39)gGa>gAa	p.G13E	MCM8_ENST00000378883.1_Missense_Mutation_p.G13E|MCM8_ENST00000265187.4_Missense_Mutation_p.G13E|TRMT6_ENST00000453074.2_5'Flank|MCM8_ENST00000378886.2_Missense_Mutation_p.G13E|TRMT6_ENST00000473131.1_5'Flank|TRMT6_ENST00000203001.2_5'Flank	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	13					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						TTTGGACGAGGAAGATTTCAA	0.403																																						ENST00000378896.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						c.(37-39)gGa>gAa		minichromosome maintenance complex component 8							97.0	94.0	95.0					20																	5932699		2203	4300	6503	SO:0001583	missense	84515				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr20:5932699G>A	AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"""REC homolog (Drosophila)"""	608187	"""chromosome 20 open reading frame 154"""	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.38G>A	20.37:g.5932699G>A	ENSP00000368174:p.Gly13Glu					MCM8_ENST00000378883.1_Missense_Mutation_p.G13E|MCM8_ENST00000265187.4_Missense_Mutation_p.G13E|MCM8_ENST00000378886.2_Missense_Mutation_p.G13E	p.G13E	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN			2	415	+			13					B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Missense_Mutation	SNP	ENST00000378896.3	37	c.38G>A	CCDS13094.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.127660	0.77549	.	.	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000399350;ENST00000378886;ENST00000265187	T;T;T;T	0.03580	4.02;3.88;3.9;4.02	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000001	T	0.13586	0.0329	L	0.54323	1.7	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.999;0.997	T	0.00878	-1.1530	10	0.33940	T	0.23	-22.4834	14.636	0.68689	0.0:0.1454:0.8546:0.0	.	13;13;13;13	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	E	13	ENSP00000368174:G13E;ENSP00000368161:G13E;ENSP00000368164:G13E;ENSP00000265187:G13E	ENSP00000265187:G13E	G	+	2	0	MCM8	5880699	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.489000	0.66875	2.826000	0.97356	0.655000	0.94253	GGA		0.403	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	NM_032485		11	39	0	0	0	1	0	11	39				
FASTKD3	79072	broad.mit.edu	37	5	7861342	7861342	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr5:7861342A>G	ENST00000264669.5	-	6	1940	c.1804T>C	c.(1804-1806)Tgc>Cgc	p.C602R	FASTKD3_ENST00000513658.1_5'UTR|MTRR_ENST00000502509.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	602	RAP. {ECO:0000255|PROSITE- ProRule:PRU00619}.				cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTATTGGAGCAAAACCTTTTT	0.299																																						ENST00000264669.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1804-1806)Tgc>Cgc		FAST kinase domains 3							137.0	133.0	134.0					5																	7861342		2203	4300	6503	SO:0001583	missense	79072				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr5:7861342A>G	AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.1804T>C	5.37:g.7861342A>G	ENSP00000264669:p.Cys602Arg					MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_5'UTR	p.C602R	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN			6	1940	-			602			RAP.		Q9BVD3	Missense_Mutation	SNP	ENST00000264669.5	37	c.1804T>C	CCDS3873.1	.	.	.	.	.	.	.	.	.	.	A	15.69	2.908789	0.52439	.	.	ENSG00000124279	ENST00000264669	T	0.23147	1.92	5.08	5.08	0.68730	RAP domain (3);	0.330913	0.33110	N	0.005280	T	0.53883	0.1824	M	0.86651	2.83	0.80722	D	1	D	0.56287	0.975	P	0.62184	0.899	T	0.63225	-0.6685	10	0.72032	D	0.01	-4.8629	14.8624	0.70392	1.0:0.0:0.0:0.0	.	602	Q14CZ7	FAKD3_HUMAN	R	602	ENSP00000264669:C602R	ENSP00000264669:C602R	C	-	1	0	FASTKD3	7914342	1.000000	0.71417	0.772000	0.31596	0.827000	0.46813	4.786000	0.62425	1.907000	0.55213	0.459000	0.35465	TGC		0.299	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091		12	48	0	0	0	1	0	12	48				
ESRP2	80004	broad.mit.edu	37	16	68269783	68269783	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr16:68269783C>G	ENST00000565858.1	-	1	252	c.166G>C	c.(166-168)Gtt>Ctt	p.V56L	ESRP2_ENST00000473183.2_Missense_Mutation_p.V56L|RP11-96D1.6_ENST00000564147.1_RNA	NM_024939.2	NP_079215.2	Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	56					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						ACTTGCCAAACTAGGAGGATT	0.682																																						ENST00000473183.2																			0				NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						c.(166-168)Gtt>Ctt		epithelial splicing regulatory protein 2							24.0	20.0	21.0					16																	68269783		2194	4294	6488	SO:0001583	missense	80004				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding	g.chr16:68269783C>G	AK025571	CCDS10863.1	16q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000103067	ENSG00000103067		"""RNA binding motif (RRM) containing"""	26152	protein-coding gene	gene with protein product		612960	"""RNA binding motif protein 35B"""	RBM35B		12477932	Standard	NM_024939		Approved	FLJ21918	uc002evq.1	Q9H6T0	OTTHUMG00000137557	ENST00000565858.1:c.166G>C	16.37:g.68269783C>G	ENSP00000454554:p.Val56Leu					ESRP2_ENST00000565858.1_Missense_Mutation_p.V56L	p.V56L			Q9H6T0	ESRP2_HUMAN			1	704	-			56					Q8N6H8|Q8WZ15|Q9H6I4	Missense_Mutation	SNP	ENST00000565858.1	37	c.166G>C		.	.	.	.	.	.	.	.	.	.	C	20.8	4.050723	0.75960	.	.	ENSG00000103067	ENST00000473183	T	0.41758	0.99	4.26	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.34832	0.0911	L	0.48362	1.52	0.80722	D	1	B;B	0.27166	0.17;0.09	B;B	0.25506	0.05;0.061	T	0.12604	-1.0541	10	0.28530	T	0.3	-20.8487	12.3612	0.55205	0.0:1.0:0.0:0.0	.	56;56	Q9H6T0;Q9H6T0-2	ESRP2_HUMAN;.	L	56	ENSP00000418748:V56L	ENSP00000418748:V56L	V	-	1	0	ESRP2	66827284	0.994000	0.37717	0.787000	0.31911	0.971000	0.66376	1.439000	0.35013	2.391000	0.81399	0.555000	0.69702	GTT		0.682	ESRP2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000433083.1	NM_024939		3	16	0	0	0	1	0	3	16				
ZFP37	7539	broad.mit.edu	37	9	115806327	115806327	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr9:115806327G>C	ENST00000374227.3	-	4	598	c.571C>G	c.(571-573)Cct>Gct	p.P191A	ZFP37_ENST00000553380.1_Missense_Mutation_p.P206A|ZFP37_ENST00000555206.1_Missense_Mutation_p.P192A	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	191					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GAGTGATCAGGTAAATCTAAA	0.313																																						ENST00000374227.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						c.(571-573)Cct>Gct		ZFP37 zinc finger protein							121.0	122.0	122.0					9																	115806327		2203	4299	6502	SO:0001583	missense	7539					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:115806327G>C	AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"""Zinc fingers, C2H2-type"", ""-"""	12863	protein-coding gene	gene with protein product		602951	"""zinc finger protein homologous to Zfp37 in mouse"", ""zinc finger protein 37 homolog (mouse)"""				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.571C>G	9.37:g.115806327G>C	ENSP00000363344:p.Pro191Ala					ZFP37_ENST00000555206.1_Missense_Mutation_p.P192A|ZFP37_ENST00000553380.1_Missense_Mutation_p.P206A	p.P191A			Q9Y6Q3	ZFP37_HUMAN			4	598	-			191					A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Missense_Mutation	SNP	ENST00000374227.3	37	c.571C>G	CCDS6787.1	.	.	.	.	.	.	.	.	.	.	G	0.122	-1.124019	0.01770	.	.	ENSG00000136866	ENST00000374227;ENST00000555206;ENST00000553380	T;T;T	0.04862	3.57;3.54;3.62	4.2	3.27	0.37495	.	0.538685	0.15679	N	0.250007	T	0.01695	0.0054	N	0.00399	-1.545	0.09310	N	1	P;P;B	0.36909	0.573;0.573;0.004	B;B;B	0.35182	0.197;0.197;0.004	T	0.43540	-0.9385	10	0.16896	T	0.51	-5.0438	9.2723	0.37679	0.0:0.0:0.7852:0.2147	.	192;206;191	G3V3L7;Q9Y6Q3-2;Q9Y6Q3	.;.;ZFP37_HUMAN	A	191;192;206	ENSP00000363344:P191A;ENSP00000451310:P192A;ENSP00000452552:P206A	ENSP00000363344:P191A	P	-	1	0	ZFP37	114846148	0.000000	0.05858	0.903000	0.35520	0.562000	0.35680	-0.020000	0.12525	1.304000	0.44892	0.655000	0.94253	CCT		0.313	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1	NM_003408		13	22	0	0	0	1	0	13	22				
TRPS1	7227	broad.mit.edu	37	8	116632226	116632226	+	Missense_Mutation	SNP	G	G	C	rs61758125		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr8:116632226G>C	ENST00000220888.5	-	2	219	c.60C>G	c.(58-60)atC>atG	p.I20M	TRPS1_ENST00000395715.3_Missense_Mutation_p.I33M|TRPS1_ENST00000519076.1_Missense_Mutation_p.I20M|TRPS1_ENST00000520276.1_Missense_Mutation_p.I24M|TRPS1_ENST00000519674.1_Missense_Mutation_p.I20M			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	20					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TAGGCTCCAGGATCTGGCCCT	0.448									Langer-Giedion syndrome																													ENST00000395715.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111						c.(97-99)atC>atG		trichorhinophalangeal syndrome I							89.0	82.0	84.0					8																	116632226		1843	4097	5940	SO:0001583	missense	7227	Langer-Giedion syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116632226G>C	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.60C>G	8.37:g.116632226G>C	ENSP00000220888:p.Ile20Met					TRPS1_ENST00000519674.1_Missense_Mutation_p.I20M|TRPS1_ENST00000220888.5_Missense_Mutation_p.I20M|TRPS1_ENST00000519076.1_Missense_Mutation_p.I20M|TRPS1_ENST00000520276.1_Missense_Mutation_p.I24M	p.I33M	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		3	676	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		20					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.99C>G		.	.	.	.	.	.	.	.	.	.	G	11.65	1.703073	0.30232	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674;ENST00000395713;ENST00000519815;ENST00000422939	D;D;D;D;T	0.98381	-4.9;-4.88;-4.88;-4.88;0.93	5.82	5.82	0.92795	.	0.524012	0.19479	N	0.113264	D	0.94528	0.8238	N	0.14661	0.345	0.29183	N	0.876353	B;B;B	0.22541	0.071;0.042;0.071	B;B;B	0.27608	0.043;0.019;0.081	D	0.89686	0.3894	10	0.66056	D	0.02	-2.2667	9.2253	0.37402	0.0723:0.0:0.7818:0.1459	rs61758125	24;20;33	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	M	33;20;20;24;20;33;33;33	ENSP00000379065:I33M;ENSP00000220888:I20M;ENSP00000428910:I20M;ENSP00000428680:I24M;ENSP00000429174:I20M	ENSP00000220888:I20M	I	-	3	3	TRPS1	116701401	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.989000	0.49393	2.751000	0.94390	0.650000	0.86243	ATC		0.448	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		26	58	0	0	0	1	0	26	58				
EML4	27436	broad.mit.edu	37	2	42557000	42557000	+	Missense_Mutation	SNP	A	A	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr2:42557000A>C	ENST00000318522.5	+	23	2861	c.2599A>C	c.(2599-2601)Aag>Cag	p.K867Q	EML4_ENST00000401738.3_Missense_Mutation_p.K878Q|EML4_ENST00000402711.2_Missense_Mutation_p.K809Q|EML4_ENST00000453191.2_Missense_Mutation_p.K131Q	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	867					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						ACTTGTGGAAAAGTTATCTTT	0.443			T	ALK	NSCLC																																	ENST00000318522.5				Dom	yes		2	2p21	27436	T	echinoderm microtubule associated protein like 4			E	ALK		NSCLC	EML4/ALK(543)	0				NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						c.(2599-2601)Aag>Cag		echinoderm microtubule associated protein like 4							179.0	171.0	174.0					2																	42557000		2203	4300	6503	SO:0001583	missense	27436				microtubule-based process|mitosis	cytoplasm|microtubule	protein binding	g.chr2:42557000A>C	AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"""WD repeat domain containing"""	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.2599A>C	2.37:g.42557000A>C	ENSP00000320663:p.Lys867Gln					EML4_ENST00000453191.2_Missense_Mutation_p.K131Q|EML4_ENST00000402711.2_Missense_Mutation_p.K809Q|EML4_ENST00000401738.3_Missense_Mutation_p.K878Q	p.K867Q	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN			23	2861	+			867					A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Missense_Mutation	SNP	ENST00000318522.5	37	c.2599A>C	CCDS1807.1	.	.	.	.	.	.	.	.	.	.	A	28.4	4.919356	0.92249	.	.	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738;ENST00000453191	T;T;T;T	0.49432	1.0;1.07;1.05;0.78	5.37	5.37	0.77165	WD40-repeat-containing domain (1);	0.097789	0.64402	D	0.000002	T	0.56630	0.1998	L	0.29908	0.895	0.58432	D	0.999999	D;P;D;D	0.89917	1.0;0.58;1.0;1.0	D;B;D;D	0.83275	0.996;0.326;0.996;0.996	T	0.53802	-0.8387	10	0.31617	T	0.26	-11.2106	15.6682	0.77252	1.0:0.0:0.0:0.0	.	809;809;878;867	A6H8Y6;B5MCW9;B5MBZ0;Q9HC35	.;.;.;EMAL4_HUMAN	Q	867;809;878;131	ENSP00000320663:K867Q;ENSP00000385059:K809Q;ENSP00000384939:K878Q;ENSP00000400590:K131Q	ENSP00000320663:K867Q	K	+	1	0	EML4	42410504	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.488000	0.81441	2.156000	0.67533	0.533000	0.62120	AAG		0.443	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250463.3	NM_019063		32	77	0	0	0	1	0	32	77				
ATP8B4	79895	broad.mit.edu	37	15	50271897	50271897	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr15:50271897C>G	ENST00000284509.6	-	12	1092	c.951G>C	c.(949-951)aaG>aaC	p.K317N	ATP8B4_ENST00000559829.1_Missense_Mutation_p.K317N|ATP8B4_ENST00000558959.1_5'UTR|RNA5SP394_ENST00000364216.1_RNA	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	317						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ACACAGAGCTCTTCTCTCCTT	0.368																																						ENST00000284509.6																			0				breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73						c.(949-951)aaG>aaC		ATPase, class I, type 8B, member 4							111.0	120.0	117.0					15																	50271897		2196	4295	6491	SO:0001583	missense	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50271897C>G	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.951G>C	15.37:g.50271897C>G	ENSP00000284509:p.Lys317Asn					ATP8B4_ENST00000559829.1_Missense_Mutation_p.K317N|ATP8B4_ENST00000558959.1_5'UTR	p.K317N	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	12	1092	-		all_lung(180;0.00183)	317					Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	c.951G>C	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	C	8.969	0.972456	0.18736	.	.	ENSG00000104043	ENST00000284509	T	0.28454	1.61	5.68	4.75	0.60458	ATPase, P-type, ATPase-associated domain (1);	0.320832	0.35936	N	0.002896	T	0.10723	0.0262	N	0.01122	-1.005	0.33469	D	0.585901	B	0.09022	0.002	B	0.11329	0.006	T	0.13926	-1.0491	10	0.13470	T	0.59	.	12.8727	0.57975	0.0:0.6862:0.3138:0.0	.	317	Q8TF62	AT8B4_HUMAN	N	317	ENSP00000284509:K317N	ENSP00000284509:K317N	K	-	3	2	ATP8B4	48059189	0.915000	0.31059	0.992000	0.48379	0.975000	0.68041	2.477000	0.45180	1.377000	0.46286	0.650000	0.86243	AAG		0.368	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		12	50	0	0	0	1	0	12	50				
COQ7	10229	broad.mit.edu	37	16	19087047	19087047	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr16:19087047G>A	ENST00000321998.5	+	4	438	c.372G>A	c.(370-372)gcG>gcA	p.A124A	COQ7_ENST00000568985.1_Silent_p.A124A|COQ7_ENST00000544894.2_Silent_p.A86A|COQ7_ENST00000569127.1_Silent_p.A101A	NM_016138.4	NP_057222.2	Q99807	COQ7_HUMAN	coenzyme Q7 homolog, ubiquinone (yeast)	124	2 X approximate tandem repeats.				age-dependent response to oxidative stress (GO:0001306)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|in utero embryonic development (GO:0001701)|mitochondrial ATP synthesis coupled electron transport (GO:0042775)|mitochondrion morphogenesis (GO:0070584)|neural tube formation (GO:0001841)|neurogenesis (GO:0022008)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						TCCCAGGGGCGGGGACCGCCT	0.557																																						ENST00000321998.5																			0				breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						c.(370-372)gcG>gcA		coenzyme Q7 homolog, ubiquinone (yeast)							67.0	67.0	67.0					16																	19087047		2197	4300	6497	SO:0001819	synonymous_variant	10229				ubiquinone biosynthetic process	mitochondrial inner membrane|nucleus	oxidoreductase activity|transition metal ion binding	g.chr16:19087047G>A	U81276	CCDS10574.1, CCDS53993.1	16p12.3	2008-05-14	2001-11-28		ENSG00000167186	ENSG00000167186			2244	protein-coding gene	gene with protein product		601683	"""coenzyme Q, 7 (rat, yeast) homolog"""			9020081, 10373325	Standard	NM_016138		Approved	CLK-1, CAT5	uc002dfr.3	Q99807	OTTHUMG00000131455	ENST00000321998.5:c.372G>A	16.37:g.19087047G>A						COQ7_ENST00000569127.1_Silent_p.A101A|COQ7_ENST00000568985.1_Silent_p.A124A|COQ7_ENST00000544894.2_Silent_p.A86A	p.A124A	NM_016138.4	NP_057222.2	Q99807	COQ7_HUMAN			4	438	+			124			2 X approximate tandem repeats.		B2RDA9|Q9BTT7|Q9H0T5|Q9UEW5|Q9UNR5	Silent	SNP	ENST00000321998.5	37	c.372G>A	CCDS10574.1																																																																																				0.557	COQ7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254275.3	NM_016138		16	51	0	0	0	1	0	16	51				
CES2	8824	broad.mit.edu	37	16	66973251	66973251	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr16:66973251C>G	ENST00000317091.4	+	3	1589	c.605C>G	c.(604-606)tCt>tGt	p.S202C	CES2_ENST00000417689.1_Missense_Mutation_p.S202C	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	138					catabolic process (GO:0009056)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	Dabigatran etexilate(DB06695)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Prasugrel(DB06209)	CATGAAGGCTCTAACCTGCCG	0.537																																					Ovarian(70;1230 1691 37888 38351)	ENST00000317091.4																			0				breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12						c.(604-606)tCt>tGt		carboxylesterase 2							93.0	90.0	91.0					16																	66973251		2200	4300	6500	SO:0001583	missense	8824				catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:66973251C>G	BC032095	CCDS10825.1, CCDS45507.1	16q22.1	2010-10-12	2010-10-12		ENSG00000172831	ENSG00000172831		"""Carboxylesterases"""	1864	protein-coding gene	gene with protein product		605278	"""carboxylesterase 2 (intestine, liver)"""			9169443, 9144407, 20931200	Standard	NM_198061		Approved	CE-2, iCE, CES2A1	uc002eqr.3	O00748	OTTHUMG00000137517	ENST00000317091.4:c.605C>G	16.37:g.66973251C>G	ENSP00000317842:p.Ser202Cys					CES2_ENST00000417689.1_Missense_Mutation_p.S202C	p.S202C	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	3	1589	+		Ovarian(137;0.0563)	138					A8K367|Q16859|Q5MAB8|Q7Z366|Q8IUP4|Q8TCP8	Missense_Mutation	SNP	ENST00000317091.4	37	c.605C>G	CCDS10825.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630324	0.67015	.	.	ENSG00000172831	ENST00000417689;ENST00000317091	T;T	0.60171	0.21;0.21	5.5	5.5	0.81552	Carboxylesterase, type B (1);	0.527164	0.17733	N	0.163837	T	0.80276	0.4593	M	0.88105	2.93	0.09310	N	1	D;D	0.76494	0.998;0.999	D;D	0.73708	0.976;0.981	T	0.74034	-0.3794	10	0.87932	D	0	.	16.9498	0.86242	0.0:1.0:0.0:0.0	.	138;202	O00748;A8K367	EST2_HUMAN;.	C	202	ENSP00000394452:S202C;ENSP00000317842:S202C	ENSP00000317842:S202C	S	+	2	0	CES2	65530752	0.027000	0.19231	0.582000	0.28627	0.154000	0.21943	1.568000	0.36418	2.854000	0.98071	0.655000	0.94253	TCT		0.537	CES2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268838.2	NM_003869		22	67	0	0	0	1	0	22	67				
ASB16	92591	broad.mit.edu	37	17	42248181	42248181	+	Silent	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr17:42248181C>T	ENST00000293414.1	+	1	108	c.24C>T	c.(22-24)ttC>ttT	p.F8F		NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	8					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CCTTCCCCTTCACCTCCTCCA	0.687																																						ENST00000293414.1																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14						c.(22-24)ttC>ttT		ankyrin repeat and SOCS box containing 16							46.0	42.0	44.0					17																	42248181		2203	4300	6503	SO:0001819	synonymous_variant	92591				intracellular signal transduction		protein binding	g.chr17:42248181C>T	AK054727	CCDS11478.1	17q21.31	2013-01-10	2011-01-25		ENSG00000161664	ENSG00000161664		"""Ankyrin repeat domain containing"""	19768	protein-coding gene	gene with protein product		615056	"""ankyrin repeat and SOCS box-containing 16"""			12076535	Standard	NM_080863		Approved	FLJ30165	uc002ifl.1	Q96NS5	OTTHUMG00000181809	ENST00000293414.1:c.24C>T	17.37:g.42248181C>T							p.F8F	NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	1	108	+		Breast(137;0.00765)|Prostate(33;0.0313)	8					B2RBC0|Q8WXK0	Silent	SNP	ENST00000293414.1	37	c.24C>T	CCDS11478.1																																																																																				0.687	ASB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457703.1			29	41	0	0	0	1	0	29	41				
VPS51	738	broad.mit.edu	37	11	64876853	64876853	+	Silent	SNP	G	G	A	rs369231552		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr11:64876853G>A	ENST00000279281.3	+	6	1637	c.1545G>A	c.(1543-1545)aaG>aaA	p.K515K	TM7SF2_ENST00000279263.7_5'Flank|TM7SF2_ENST00000345348.5_5'Flank|TM7SF2_ENST00000540748.1_5'Flank|AP003068.9_ENST00000528887.1_RNA|VPS51_ENST00000527646.1_3'UTR	NM_013265.2	NP_037397.2	Q9UID3	VPS51_HUMAN	vacuolar protein sorting 51 homolog (S. cerevisiae)	515					autophagy (GO:0006914)|lipid transport (GO:0006869)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											CTGGGGAGAAGGGGGGTGCCA	0.622																																						ENST00000279281.3																			0											c.(1543-1545)aaG>aaA		vacuolar protein sorting 51 homolog (S. cerevisiae)		G		0,4402		0,0,2201	93.0	90.0	91.0		1545	3.6	1.0	11		91	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	C11orf2	NM_013265.2		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		515/783	64876853	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	738							g.chr11:64876853G>A	AF024631	CCDS8093.1	11q13.1	2012-07-19	2012-07-19	2012-07-19	ENSG00000149823	ENSG00000149823			1172	protein-coding gene	gene with protein product	"""fat-free homolog (zebrafish)"""	615738	"""chromosome 11 open reading frame 3"", ""chromosome 11 open reading frame 2"""	C11orf3, C11orf2		9286704, 20685960	Standard	NM_013265		Approved	ANG2, ANG3, FFR	uc001ocr.2	Q9UID3	OTTHUMG00000165600	ENST00000279281.3:c.1545G>A	11.37:g.64876853G>A						VPS51_ENST00000527646.1_3'UTR	p.K515K	NM_013265.2	NP_037397.2					6	1637	+								Q6PJV5|Q7L8A6|Q8WZ35|Q96DF4|Q96GR3	Silent	SNP	ENST00000279281.3	37	c.1545G>A	CCDS8093.1	.	.	.	.	.	.	.	.	.	.	G	8.317	0.823374	0.16678	0.0	1.16E-4	ENSG00000149823	ENST00000526856	.	.	.	5.62	3.63	0.41609	.	.	.	.	.	T	0.60728	0.2291	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53774	-0.8391	4	.	.	.	-0.4219	9.9568	0.41671	0.2596:0.0:0.7404:0.0	.	.	.	.	K	13	.	.	R	+	2	0	C11orf2	64633429	0.969000	0.33509	0.996000	0.52242	0.981000	0.71138	0.145000	0.16157	0.256000	0.21614	-1.134000	0.01955	AGG		0.622	VPS51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385217.1	NM_013265		28	38	0	0	0	1	0	28	38				
FBXO10	26267	broad.mit.edu	37	9	37518252	37518252	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr9:37518252C>T	ENST00000432825.2	-	9	2432	c.2384G>A	c.(2383-2385)cGg>cAg	p.R795Q	FBXO10_ENST00000541829.1_Missense_Mutation_p.R320Q|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	795					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		ACCATTGCCCCGGAGCTCCAC	0.582																																						ENST00000432825.2																			0				breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(2383-2385)cGg>cAg		F-box protein 10							103.0	111.0	108.0					9																	37518252		2084	4214	6298	SO:0001583	missense	26267					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr9:37518252C>T	AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"""F-boxes /  ""other"""""	13589	protein-coding gene	gene with protein product		609092	"""F-box only protein 10"""			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.2384G>A	9.37:g.37518252C>T	ENSP00000403802:p.Arg795Gln					RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Missense_Mutation_p.R320Q	p.R795Q	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN		GBM - Glioblastoma multiforme(29;0.0107)	9	2432	-			795					Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Missense_Mutation	SNP	ENST00000432825.2	37	c.2384G>A	CCDS47966.1	.	.	.	.	.	.	.	.	.	.	C	33	5.230394	0.95207	.	.	ENSG00000147912	ENST00000432825;ENST00000541829	T;T	0.80738	-1.41;-1.41	5.49	5.49	0.81192	Pectin lyase fold/virulence factor (1);Carbohydrate-binding/sugar hydrolysis domain (1);Pectin lyase fold (1);	0.000000	0.85682	D	0.000000	T	0.75236	0.3822	L	0.29908	0.895	0.80722	D	1	D;P;P	0.53745	0.962;0.814;0.814	B;B;B	0.43360	0.417;0.179;0.179	T	0.79381	-0.1827	10	0.66056	D	0.02	-15.8011	18.1683	0.89736	0.0:1.0:0.0:0.0	.	674;320;795	Q59F51;Q08AL4;Q9UK96	.;.;FBX10_HUMAN	Q	795;320	ENSP00000403802:R795Q;ENSP00000441307:R320Q	ENSP00000403802:R795Q	R	-	2	0	FBXO10	37508252	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.325000	0.59234	2.565000	0.86533	0.655000	0.94253	CGG		0.582	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052472.3			10	25	0	0	0	1	0	10	25				
PCDH18	54510	broad.mit.edu	37	4	138451205	138451205	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr4:138451205C>T	ENST00000344876.4	-	1	2424	c.2038G>A	c.(2038-2040)Gca>Aca	p.A680T	PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.A460T|PCDH18_ENST00000412923.2_Missense_Mutation_p.A680T	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	680	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ACCGACTCTGCATATTCAAAG	0.423																																						ENST00000344876.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(2038-2040)Gca>Aca		protocadherin 18							165.0	157.0	160.0					4																	138451205		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138451205C>T	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.2038G>A	4.37:g.138451205C>T	ENSP00000355082:p.Ala680Thr					PCDH18_ENST00000412923.2_Missense_Mutation_p.A680T|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.A460T	p.A680T	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN			1	2424	-	all_hematologic(180;0.24)		680			Cadherin 6.		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.2038G>A	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	C	6.189	0.403058	0.11754	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.55052	0.65;0.65;0.54	5.53	2.87	0.33458	Cadherin (2);	0.396081	0.18260	N	0.146664	T	0.34048	0.0884	N	0.19112	0.55	0.23186	N	0.998157	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.002;0.0	T	0.16928	-1.0386	10	0.29301	T	0.29	.	9.0678	0.36473	0.0:0.724:0.0:0.276	.	460;680;680	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	T	680;680;460	ENSP00000355082:A680T;ENSP00000390688:A680T;ENSP00000425903:A460T	ENSP00000355082:A680T	A	-	1	0	PCDH18	138670655	0.999000	0.42202	0.511000	0.27724	0.987000	0.75469	1.168000	0.31859	0.429000	0.26202	0.655000	0.94253	GCA		0.423	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		31	104	0	0	0	1	0	31	104				
WARS2	10352	broad.mit.edu	37	1	119575787	119575787	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:119575787G>A	ENST00000235521.4	-	6	856	c.830C>T	c.(829-831)gCg>gTg	p.A277V	WARS2_ENST00000369426.5_3'UTR|WARS2_ENST00000537870.1_Missense_Mutation_p.A183V	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	277					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)|vasculogenesis (GO:0001570)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	GGCATGCACCGCCACTATGTT	0.637																																						ENST00000235521.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15						c.(829-831)gCg>gTg		tryptophanyl tRNA synthetase 2, mitochondrial	L-Tryptophan(DB00150)						52.0	52.0	52.0					1																	119575787		2203	4300	6503	SO:0001583	missense	10352				tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity	g.chr1:119575787G>A	BC021722	CCDS900.1, CCDS30817.1	1p12	2011-07-01	2007-02-23		ENSG00000116874	ENSG00000116874	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12730	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 2, mitochondrial"""	604733				10072595, 10828066	Standard	NM_201263		Approved	TrpRS	uc001ehn.3	Q9UGM6	OTTHUMG00000012335	ENST00000235521.4:c.830C>T	1.37:g.119575787G>A	ENSP00000235521:p.Ala277Val					WARS2_ENST00000369426.5_3'UTR|WARS2_ENST00000537870.1_Missense_Mutation_p.A183V	p.A277V	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN		Lung(183;0.0629)	6	856	-	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)	277					B1ALR1|B2R9D4|Q53FT4|Q5VUD2|Q86TQ0	Missense_Mutation	SNP	ENST00000235521.4	37	c.830C>T	CCDS900.1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.336773	0.24253	.	.	ENSG00000116874	ENST00000235521;ENST00000537870	T;T	0.30714	1.52;1.52	5.87	4.88	0.63580	.	0.417726	0.29233	N	0.012750	T	0.13457	0.0326	L	0.31371	0.925	0.29592	N	0.848368	P;P	0.39131	0.511;0.661	B;B	0.36534	0.227;0.148	T	0.06373	-1.0830	10	0.36615	T	0.2	-18.0371	17.7315	0.88379	0.0:0.0:0.8692:0.1308	.	220;277	B7Z6G7;Q9UGM6	.;SYWM_HUMAN	V	277;183	ENSP00000235521:A277V;ENSP00000438807:A183V	ENSP00000235521:A277V	A	-	2	0	WARS2	119377310	0.999000	0.42202	0.757000	0.31301	0.008000	0.06430	3.349000	0.52217	2.785000	0.95823	0.655000	0.94253	GCG		0.637	WARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034362.1	NM_015836		13	58	0	0	0	1	0	13	58				
SHPRH	257218	broad.mit.edu	37	6	146276246	146276246	+	Silent	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr6:146276246C>T	ENST00000367505.2	-	2	477	c.213G>A	c.(211-213)aaG>aaA	p.K71K	SHPRH_ENST00000275233.7_Silent_p.K71K|SHPRH_ENST00000367503.3_Silent_p.K71K|SHPRH_ENST00000438092.2_Silent_p.K71K			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	71					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TTGAACACCTCTTCTTATCTC	0.388																																						ENST00000367503.3																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79						c.(211-213)aaG>aaA		SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase							131.0	119.0	123.0					6																	146276246		1844	4095	5939	SO:0001819	synonymous_variant	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146276246C>T	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.213G>A	6.37:g.146276246C>T						SHPRH_ENST00000438092.2_Silent_p.K71K|SHPRH_ENST00000367505.2_Silent_p.K71K|SHPRH_ENST00000275233.7_Silent_p.K71K	p.K71K	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	2	611	-		Ovarian(120;0.0365)	71					Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Silent	SNP	ENST00000367505.2	37	c.213G>A	CCDS43513.2																																																																																				0.388	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		8	64	0	0	0	1	0	8	64				
ALKBH8	91801	broad.mit.edu	37	11	107427549	107427549	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr11:107427549C>G	ENST00000428149.2	-	3	461	c.310G>C	c.(310-312)Gaa>Caa	p.E104Q	ALKBH8_ENST00000429370.1_Missense_Mutation_p.E104Q|ALKBH8_ENST00000530933.1_5'UTR|ALKBH8_ENST00000389568.3_Missense_Mutation_p.E104Q|ALKBH8_ENST00000417449.2_Missense_Mutation_p.E107Q	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)	104	RRM.				cellular response to DNA damage stimulus (GO:0006974)|tRNA methylation (GO:0030488)	cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|RNA binding (GO:0003723)|tRNA (uracil) methyltransferase activity (GO:0016300)	p.E104*(2)		breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		TCCACTACTTCTTTTCCATTG	0.353																																						ENST00000428149.2																			2	Substitution - Nonsense(2)	p.E104*(2)	large_intestine(2)	breast(2)|large_intestine(2)|lung(5)	9						c.(310-312)Gaa>Caa		alkB, alkylation repair homolog 8 (E. coli)							112.0	103.0	106.0					11																	107427549		2201	4298	6499	SO:0001583	missense	91801				response to DNA damage stimulus	cytosol|nucleus	metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|RNA binding|tRNA (uracil) methyltransferase activity	g.chr11:107427549C>G	AF086489	CCDS8337.2, CCDS73376.1	11q22.3	2013-10-04			ENSG00000137760	ENSG00000137760	2.1.1.229	"""Alkylation repair homologs"", ""RNA binding motif (RRM) containing"""	25189	protein-coding gene	gene with protein product		613306				20123966	Standard	NM_138775		Approved	MGC10235	uc009yxp.3	Q96BT7	OTTHUMG00000157008	ENST00000428149.2:c.310G>C	11.37:g.107427549C>G	ENSP00000415885:p.Glu104Gln					ALKBH8_ENST00000389568.3_Missense_Mutation_p.E104Q|ALKBH8_ENST00000429370.1_Missense_Mutation_p.E104Q|ALKBH8_ENST00000530933.1_5'UTR|ALKBH8_ENST00000417449.2_Missense_Mutation_p.E107Q	p.E104Q	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)	3	461	-		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)	104			RRM.		B1Q2M0|B4DEF6|Q8N989	Missense_Mutation	SNP	ENST00000428149.2	37	c.310G>C	CCDS8337.2	.	.	.	.	.	.	.	.	.	.	C	14.99	2.699752	0.48307	.	.	ENSG00000137760	ENST00000428149;ENST00000429370;ENST00000389568;ENST00000417449	T;T;T;T	0.45276	0.91;2.3;0.91;0.9	5.77	5.77	0.91146	Nucleotide-binding, alpha-beta plait (1);	0.228567	0.43747	D	0.000535	T	0.46034	0.1372	M	0.72118	2.19	0.37905	D	0.931173	B	0.15473	0.013	B	0.12156	0.007	T	0.43814	-0.9368	10	0.22706	T	0.39	-14.9069	18.977	0.92742	0.0:1.0:0.0:0.0	.	104	Q96BT7	ALKB8_HUMAN	Q	104;104;104;107	ENSP00000415885:E104Q;ENSP00000391225:E104Q;ENSP00000374219:E104Q;ENSP00000397673:E107Q	ENSP00000260318:E104Q	E	-	1	0	ALKBH8	106932759	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.595000	0.46197	2.704000	0.92352	0.655000	0.94253	GAA		0.353	ALKBH8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347071.2	NM_138775		29	19	0	0	0	1	0	29	19				
SCRT1	83482	broad.mit.edu	37	8	145557311	145557311	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr8:145557311C>T	ENST00000332135.4	-	2	694	c.583G>A	c.(583-585)Gag>Aag	p.E195K		NM_031309.4	NP_112599.2	Q9BWW7	SCRT1_HUMAN	scratch family zinc finger 1	195					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neuron migration (GO:2001222)|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(2)|upper_aerodigestive_tract(1)	3	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.35e-39)|all cancers(56;1.37e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			TTGCCGCACTCGCCGCACGCG	0.786																																						ENST00000332135.4																			0				breast(2)|upper_aerodigestive_tract(1)	3						c.(583-585)Gag>Aag		scratch family zinc finger 1							10.0	10.0	10.0					8																	145557311		2177	4260	6437	SO:0001583	missense	83482					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:145557311C>T	BC014675	CCDS6421.1	8q24.3	2013-10-09	2013-10-09		ENSG00000170616	ENSG00000261678		"""Zinc fingers, C2H2-type"""	15950	protein-coding gene	gene with protein product		605858	"""scratch (drosophila homolog) 1, zinc finger protein"", ""scratch homolog 1, zinc finger protein (Drosophila)"""			11274425	Standard	NM_031309		Approved	DKFZp547F072, ZNF898	uc003zbw.1	Q9BWW7	OTTHUMG00000165229	ENST00000332135.4:c.583G>A	8.37:g.145557311C>T	ENSP00000331692:p.Glu195Lys						p.E195K	NM_031309.4	NP_112599.1	Q9BWW7	SCRT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.35e-39)|all cancers(56;1.37e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		2	694	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		195					A8MX66|Q96C52	Missense_Mutation	SNP	ENST00000332135.4	37	c.583G>A	CCDS6421.1	.	.	.	.	.	.	.	.	.	.	c	16.82	3.227388	0.58668	.	.	ENSG00000170616	ENST00000332135	T	0.49432	0.78	1.71	1.71	0.24356	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	U	0.000016	T	0.36963	0.0986	L	0.31371	0.925	0.49687	D	0.999816	P	0.49090	0.919	P	0.45753	0.492	T	0.26780	-1.0093	10	0.72032	D	0.01	-23.2508	8.9678	0.35887	0.0:1.0:0.0:0.0	.	195	Q9BWW7	SCRT1_HUMAN	K	195	ENSP00000331692:E195K	ENSP00000331692:E195K	E	-	1	0	SCRT1	145528119	0.997000	0.39634	1.000000	0.80357	0.910000	0.53928	3.245000	0.51407	0.937000	0.37394	0.290000	0.19541	GAG		0.786	SCRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382800.2	NM_031309		4	16	0	0	0	1	0	4	16				
PAPPA2	60676	broad.mit.edu	37	1	176564577	176564577	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:176564577C>G	ENST00000367662.3	+	3	3001	c.1837C>G	c.(1837-1839)Cgc>Ggc	p.R613G	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R613G	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	613	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGGTGACTGCCGCCTGCAGGG	0.587																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(1837-1839)Cgc>Ggc		pappalysin 2							69.0	75.0	73.0					1																	176564577		2099	4223	6322	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176564577C>G	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1837C>G	1.37:g.176564577C>G	ENSP00000356634:p.Arg613Gly					PAPPA2_ENST00000367661.3_Missense_Mutation_p.R613G	p.R613G	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			3	3001	+			613			Metalloprotease.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.1837C>G	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.507394	0.44558	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	D;D	0.91407	-2.84;-2.84	5.42	4.45	0.53987	Notch domain (2);	0.362810	0.29660	N	0.011526	D	0.84297	0.5441	N	0.14661	0.345	0.40278	D	0.978361	B;B	0.30870	0.234;0.298	B;B	0.36959	0.237;0.193	D	0.84126	0.0409	10	0.46703	T	0.11	-23.4467	13.9743	0.64262	0.0:0.7226:0.2774:0.0	.	613;613	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	G	613	ENSP00000356634:R613G;ENSP00000356633:R613G	ENSP00000356633:R613G	R	+	1	0	PAPPA2	174831200	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.005000	0.49521	2.542000	0.85734	0.650000	0.86243	CGC		0.587	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			11	65	0	0	0	1	0	11	65				
ANAPC4	29945	broad.mit.edu	37	4	25390488	25390488	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr4:25390488C>G	ENST00000315368.3	+	7	641	c.499C>G	c.(499-501)Ctc>Gtc	p.L167V	ANAPC4_ENST00000510092.1_Missense_Mutation_p.L167V	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	167					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				AATTATTAAGCTCTTGGGAGA	0.294																																						ENST00000315368.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27						c.(499-501)Ctc>Gtc		anaphase promoting complex subunit 4							45.0	50.0	48.0					4																	25390488		2180	4285	6465	SO:0001583	missense	29945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr4:25390488C>G	AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"""Anaphase promoting complex subunits"""	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.499C>G	4.37:g.25390488C>G	ENSP00000318775:p.Leu167Val					ANAPC4_ENST00000510092.1_Missense_Mutation_p.L167V	p.L167V	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN			7	641	+		Breast(46;0.0503)	167					A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Missense_Mutation	SNP	ENST00000315368.3	37	c.499C>G	CCDS3434.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385616	0.82792	.	.	ENSG00000053900	ENST00000315368;ENST00000510092	T;T	0.36340	1.26;1.26	6.02	6.02	0.97574	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.57446	0.2054	L	0.58810	1.83	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.39800	-0.9596	10	0.24483	T	0.36	-16.3323	20.5373	0.99239	0.0:1.0:0.0:0.0	.	167	Q9UJX5	APC4_HUMAN	V	167	ENSP00000318775:L167V;ENSP00000426654:L167V	ENSP00000318775:L167V	L	+	1	0	ANAPC4	24999586	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.276000	0.78559	2.857000	0.98124	0.650000	0.86243	CTC		0.294	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	NM_013367		6	23	0	0	0	1	0	6	23				
ALG3	10195	broad.mit.edu	37	3	183963045	183963045	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr3:183963045G>A	ENST00000397676.3	-	4	576	c.546C>T	c.(544-546)ctC>ctT	p.L182L	ALG3_ENST00000418734.2_Silent_p.L126L|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000455059.1_Silent_p.L142L|ALG3_ENST00000463495.1_5'Flank|ALG3_ENST00000445626.2_Silent_p.L134L	NM_005787.5	NP_005778.1	Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	182					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)|dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity (GO:0052925)			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TACTGAGGAAGAGCAGCACCA	0.552																																						ENST00000455059.1																			0				kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						c.(424-426)ctC>ctT		ALG3, alpha-1,3- mannosyltransferase							35.0	40.0	38.0					3																	183963045		2011	4177	6188	SO:0001819	synonymous_variant	10195				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity	g.chr3:183963045G>A	BC002839	CCDS46967.1, CCDS46968.1	3q27.3	2013-02-26	2013-02-26		ENSG00000214160	ENSG00000214160	2.4.1.258	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	23056	protein-coding gene	gene with protein product	"""carbohydrate deficient glycoprotein syndrome type IV"", ""dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase"", ""dol-P-Man dependent alpha-1,3- mannosyltransferase"""	608750	"""asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase)"", ""asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae)"""			1058125	Standard	NM_005787		Approved	NOT56L, Not56, CDGS4, D16Ertd36e	uc003fne.2	Q92685	OTTHUMG00000156823	ENST00000397676.3:c.546C>T	3.37:g.183963045G>A						EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000418734.2_Silent_p.L126L|ALG3_ENST00000445626.2_Silent_p.L134L|ALG3_ENST00000397676.3_Silent_p.L182L	p.L142L			Q92685	ALG3_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		4	880	-	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		182					A8JZZ6|Q9BT71	Silent	SNP	ENST00000397676.3	37	c.426C>T	CCDS46968.1	.	.	.	.	.	.	.	.	.	.	G	9.228	1.035191	0.19590	.	.	ENSG00000214160	ENST00000446569	D	0.88277	-2.36	5.14	1.18	0.20946	.	0.170971	0.39615	U	0.001301	D	0.87204	0.6119	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.80002	-0.1565	7	0.34782	T	0.22	-16.044	7.2226	0.25997	0.1489:0.4081:0.4431:0.0	.	.	.	.	F	86	ENSP00000397326:L86F	ENSP00000397326:L86F	L	-	1	0	ALG3	185445739	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	0.581000	0.23819	-0.073000	0.12842	0.462000	0.41574	CTT		0.552	ALG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346033.1	NM_005787		4	35	0	0	0	1	0	4	35				
CENPK	64105	broad.mit.edu	37	5	64824348	64824348	+	Silent	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr5:64824348G>C	ENST00000396679.1	-	9	742	c.528C>G	c.(526-528)ctC>ctG	p.L176L	CENPK_ENST00000242872.3_Silent_p.L176L|CENPK_ENST00000510693.1_Silent_p.L113L|CENPK_ENST00000514814.1_Silent_p.L176L|CENPK_ENST00000508421.1_Silent_p.L146L|CENPK_ENST00000506282.2_5'UTR	NM_022145.4	NP_071428.2	Q9BS16	CENPK_HUMAN	centromere protein K	176					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)	10		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)		AGGTACTCAAGAGTTTCTCCT	0.269																																						ENST00000396679.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)	10						c.(526-528)ctC>ctG		centromere protein K							35.0	38.0	37.0					5																	64824348		2202	4287	6489	SO:0001819	synonymous_variant	64105				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm		g.chr5:64824348G>C	BC008504	CCDS3984.1	5q12.3	2013-11-05			ENSG00000123219	ENSG00000123219			29479	protein-coding gene	gene with protein product		611502				8950979	Standard	NM_022145		Approved	FKSG14, SOLT, CENP-K	uc003jtu.3	Q9BS16	OTTHUMG00000131227	ENST00000396679.1:c.528C>G	5.37:g.64824348G>C						CENPK_ENST00000514814.1_Silent_p.L176L|CENPK_ENST00000242872.3_Silent_p.L176L|CENPK_ENST00000510693.1_Silent_p.L113L|CENPK_ENST00000508421.1_Silent_p.L146L|CENPK_ENST00000506282.2_5'UTR	p.L176L	NM_022145.4	NP_071428.2	Q9BS16	CENPK_HUMAN		Lung(70;0.00466)	9	742	-		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	176					Q9H4L0	Silent	SNP	ENST00000396679.1	37	c.528C>G	CCDS3984.1	.	.	.	.	.	.	.	.	.	.	G	8.123	0.781282	0.16120	.	.	ENSG00000123219	ENST00000509397	.	.	.	5.54	-2.17	0.07059	.	0.135532	0.52532	D	0.000073	T	0.53883	0.1824	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.52079	-0.8623	6	0.72032	D	0.01	-1.4346	3.6073	0.08048	0.2302:0.246:0.4342:0.0896	.	.	.	.	V	89	.	ENSP00000424450:L89V	L	-	1	0	CENPK	64860104	0.004000	0.15560	0.942000	0.38095	0.994000	0.84299	-0.599000	0.05700	-0.104000	0.12154	0.591000	0.81541	CTT		0.269	CENPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253971.2	NM_022145		4	13	0	0	0	1	0	4	13				
SLC26A4	5172	broad.mit.edu	37	7	107350640	107350640	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr7:107350640A>G	ENST00000265715.3	+	19	2455	c.2231A>G	c.(2230-2232)gAa>gGa	p.E744G	SLC26A4_ENST00000541474.1_Missense_Mutation_p.E305G|SLC26A4_ENST00000544569.1_Missense_Mutation_p.E331G|SLC26A4_ENST00000543100.1_Missense_Mutation_p.E313G	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	744					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TCCATTTTAGAAACGGTAAAT	0.343									Pendred syndrome																													ENST00000265715.3																			0				central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(2230-2232)gAa>gGa		solute carrier family 26 (anion exchanger), member 4							85.0	80.0	82.0					7																	107350640		2203	4300	6503	SO:0001583	missense	5172	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107350640A>G	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.2231A>G	7.37:g.107350640A>G	ENSP00000265715:p.Glu744Gly					SLC26A4_ENST00000544569.1_Missense_Mutation_p.E331G|SLC26A4_ENST00000543100.1_Missense_Mutation_p.E313G|SLC26A4_ENST00000541474.1_Missense_Mutation_p.E305G	p.E744G	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN			19	2455	+			744					B7Z266|O43170	Missense_Mutation	SNP	ENST00000265715.3	37	c.2231A>G	CCDS5746.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.716076	0.89205	.	.	ENSG00000091137	ENST00000265715;ENST00000541474;ENST00000544569;ENST00000543100	D;D;D;D	0.95069	-3.27;-3.53;-3.6;-3.6	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.93090	0.7800	N	0.08118	0	0.44976	D	0.997999	D;D;D	0.76494	0.999;0.998;0.969	D;P;P	0.65443	0.935;0.863;0.663	D	0.94521	0.7727	10	0.51188	T	0.08	.	15.9219	0.79583	1.0:0.0:0.0:0.0	.	305;331;744	F5H104;B7Z6M6;O43511	.;.;S26A4_HUMAN	G	744;305;331;313	ENSP00000265715:E744G;ENSP00000439743:E305G;ENSP00000437427:E331G;ENSP00000441209:E313G	ENSP00000265715:E744G	E	+	2	0	SLC26A4	107137876	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.298000	0.72763	2.218000	0.71995	0.528000	0.53228	GAA		0.343	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		5	22	0	0	0	1	0	5	22				
WHAMMP3	339005	broad.mit.edu	37	15	23205094	23205094	+	RNA	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr15:23205094G>A	ENST00000400153.2	-	0	760					NR_003521.1		Q1A5X7	WHAL1_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3																		AGTACTGGAAGAACGTGGTTG	0.373																																						ENST00000400153.2																			0																																																			339005							g.chr15:23205094G>A	BC048987		15q11.2	2014-03-20	2011-06-24	2011-06-24	ENSG00000187667	ENSG00000276141			27892	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1 (pseudogene)"""	WHDC1L1, WHAMML1		18226259	Standard	NR_003521		Approved		uc001yvg.3	Q1A5X7	OTTHUMG00000171921		15.37:g.23205094G>A								NR_003521.1						0	760	-								Q1A5X8|Q52M16|Q52M18	RNA	SNP	ENST00000400153.2	37																																																																																						0.373	WHAMMP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415907.1	NR_003521		3	7	0	0	0	1	0	3	7				
SGK2	10110	broad.mit.edu	37	20	42198105	42198105	+	Silent	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr20:42198105C>T	ENST00000341458.4	+	5	708	c.489C>T	c.(487-489)ttC>ttT	p.F163F	SGK2_ENST00000373100.1_Silent_p.F103F|SGK2_ENST00000373077.1_Silent_p.F102F|SGK2_ENST00000373092.3_Silent_p.F103F|SGK2_ENST00000426287.1_Silent_p.F129F|SGK2_ENST00000423407.3_Silent_p.F103F	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	163	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|ion transmembrane transport (GO:0034220)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GCTACTCCTTCCAGACACCTG	0.617																																						ENST00000373100.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(307-309)ttC>ttT		serum/glucocorticoid regulated kinase 2							88.0	66.0	73.0					20																	42198105		2203	4300	6503	SO:0001819	synonymous_variant	10110				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity	g.chr20:42198105C>T	AF169034	CCDS13320.1, CCDS13321.1	20q13.2	2008-07-04			ENSG00000101049	ENSG00000101049			13900	protein-coding gene	gene with protein product		607589				10548550	Standard	NM_016276		Approved		uc002xkv.3	Q9HBY8	OTTHUMG00000033054	ENST00000341458.4:c.489C>T	20.37:g.42198105C>T						SGK2_ENST00000426287.1_Silent_p.F129F|SGK2_ENST00000373092.3_Silent_p.F103F|SGK2_ENST00000373077.1_Silent_p.F102F|SGK2_ENST00000423407.3_Silent_p.F103F|SGK2_ENST00000341458.4_Silent_p.F163F	p.F103F			Q9HBY8	SGK2_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		7	769	+		Myeloproliferative disorder(115;0.00452)	163			Protein kinase.		Q52PK5|Q5H8Y6|Q5H8Z1|Q5TZR3|Q9UKG6	Silent	SNP	ENST00000341458.4	37	c.309C>T	CCDS13320.1																																																																																				0.617	SGK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080383.1			16	46	0	0	0	1	0	16	46				
UBAC2	337867	broad.mit.edu	37	13	100020049	100020049	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr13:100020049G>C	ENST00000403766.3	+	8	951	c.816G>C	c.(814-816)atG>atC	p.M272I	UBAC2_ENST00000460562.1_3'UTR|UBAC2_ENST00000376440.2_Missense_Mutation_p.M237I	NM_001144072.1	NP_001137544.1	Q8NBM4	UBAC2_HUMAN	UBA domain containing 2	272					protein localization to endoplasmic reticulum (GO:0070972)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGGGAGGAATGATCAATTGGA	0.448																																						ENST00000376440.2																			0				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10						c.(709-711)atG>atC		UBA domain containing 2							141.0	124.0	130.0					13																	100020049		2203	4300	6503	SO:0001583	missense	337867					integral to membrane		g.chr13:100020049G>C	AK055110	CCDS9490.1, CCDS45064.1	13q32.3	2012-02-01	2007-04-20	2007-04-20	ENSG00000134882	ENSG00000134882			20486	protein-coding gene	gene with protein product			"""phosphoglycerate dehydrogenase like 1"""	PHGDHL1			Standard	NM_177967		Approved	FLJ30548, RP11-178C10.1	uc001voa.4	Q8NBM4	OTTHUMG00000017267	ENST00000403766.3:c.816G>C	13.37:g.100020049G>C	ENSP00000383911:p.Met272Ile					UBAC2_ENST00000403766.3_Missense_Mutation_p.M272I|UBAC2_ENST00000460562.1_3'UTR	p.M237I	NM_177967.3	NP_808882.1	Q8NBM4	UBAC2_HUMAN			6	1214	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		272					B3KNV7|Q0VAB5|Q5W0W6|Q5W0W9|Q6GQR2|Q6P4B0|Q8N2E8|Q96NW2	Missense_Mutation	SNP	ENST00000403766.3	37	c.711G>C	CCDS45064.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.104362	0.37145	.	.	ENSG00000134882	ENST00000403766;ENST00000355700;ENST00000376440	.	.	.	5.67	3.88	0.44766	.	0.249310	0.46758	N	0.000276	T	0.28433	0.0703	N	0.17674	0.51	0.33715	D	0.616261	B;B;B;B	0.14805	0.0;0.011;0.0;0.0	B;B;B;B	0.13407	0.001;0.009;0.001;0.0	T	0.29852	-0.9998	8	.	.	.	-18.991	8.0028	0.30308	0.0867:0.1597:0.7535:0.0	.	202;237;272;272	B7Z6T7;Q8NBM4-2;A8K2S7;Q8NBM4	.;.;.;UBAC2_HUMAN	I	272;138;237	.	.	M	+	3	0	UBAC2	98818050	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.536000	0.36072	1.340000	0.45581	0.561000	0.74099	ATG		0.448	UBAC2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045588.1	NM_177967		5	20	0	0	0	1	0	5	20				
OR52R1	119695	broad.mit.edu	37	11	4825505	4825505	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr11:4825505C>T	ENST00000356069.2	-	1	105	c.106G>A	c.(106-108)Gcc>Acc	p.A36T	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000380382.1_Missense_Mutation_p.A115T	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	36						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCATACGTGGCACAGAACGGA	0.512																																						ENST00000380382.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29						c.(343-345)Gcc>Acc		olfactory receptor, family 52, subfamily R, member 1							92.0	82.0	86.0					11																	4825505		2201	4298	6499	SO:0001583	missense	119695				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4825505C>T	BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"""GPCR / Class A : Olfactory receptors"""	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.106G>A	11.37:g.4825505C>T	ENSP00000348368:p.Ala36Thr					MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.A36T	p.A115T			Q8NGF1	O52R1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	342	-		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)	36					Q6IFI0	Missense_Mutation	SNP	ENST00000356069.2	37	c.343G>A	CCDS31360.2	.	.	.	.	.	.	.	.	.	.	C	12.24	1.879793	0.33162	.	.	ENSG00000176937	ENST00000356069;ENST00000380382	T;T	0.00216	8.53;8.53	5.57	2.68	0.31781	.	0.653399	0.13381	N	0.392170	T	0.00073	0.0002	N	0.04686	-0.185	0.20563	N	0.999888	P	0.34800	0.469	B	0.30646	0.118	T	0.01720	-1.1288	10	0.29301	T	0.29	.	4.3931	0.11350	0.1503:0.5496:0.0:0.3002	.	36	Q8NGF1	O52R1_HUMAN	T	36;115	ENSP00000348368:A36T;ENSP00000369742:A115T	ENSP00000348368:A36T	A	-	1	0	OR52R1	4782081	0.000000	0.05858	0.985000	0.45067	0.253000	0.25986	-1.694000	0.01915	0.924000	0.37069	0.650000	0.86243	GCC		0.512	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142183.1	NM_001005177		6	21	0	0	0	1	0	6	21				
EML3	256364	broad.mit.edu	37	11	62374514	62374514	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr11:62374514G>C	ENST00000394773.2	-	12	1727	c.1420C>G	c.(1420-1422)Ctc>Gtc	p.L474V	EML3_ENST00000278845.4_Missense_Mutation_p.L475V|EML3_ENST00000438258.1_5'UTR|EML3_ENST00000494176.2_Missense_Mutation_p.L446V|EML3_ENST00000531557.1_Missense_Mutation_p.L257V|EML3_ENST00000529309.1_Missense_Mutation_p.L474V|RP11-831H9.3_ENST00000532626.1_RNA	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	474						cytoplasm (GO:0005737)|microtubule (GO:0005874)				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TCTCCAGTGAGAATGTCTCCA	0.552																																						ENST00000394773.2																			0				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1420-1422)Ctc>Gtc		echinoderm microtubule associated protein like 3							83.0	86.0	85.0					11																	62374514		2202	4299	6501	SO:0001583	missense	256364					cytoplasm|microtubule	protein binding	g.chr11:62374514G>C	AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"""WD repeat domain containing"""	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.1420C>G	11.37:g.62374514G>C	ENSP00000378254:p.Leu474Val					EML3_ENST00000531557.1_Missense_Mutation_p.L257V|EML3_ENST00000529309.1_Missense_Mutation_p.L474V|EML3_ENST00000438258.1_5'UTR|EML3_ENST00000494176.2_Missense_Mutation_p.L446V|EML3_ENST00000278845.4_Missense_Mutation_p.L475V	p.L474V	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN			12	1727	-			474					Q6ZQW7|Q8NA55	Missense_Mutation	SNP	ENST00000394773.2	37	c.1420C>G	CCDS8023.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.18|14.18	2.459201|2.459201	0.43634|0.43634	.|.	.|.	ENSG00000149499|ENSG00000149499	ENST00000394773;ENST00000278845;ENST00000531557;ENST00000494176;ENST00000529309|ENST00000394776	T;T;T;T;T|.	0.38401|.	1.14;1.14;1.63;1.63;1.63|.	5.22|5.22	5.22|5.22	0.72569|0.72569	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.58921|0.58921	0.2156|0.2156	L|L	0.37697|0.37697	1.125|1.125	0.43902|0.43902	D|D	0.996538|0.996538	P;P;B;D;P|.	0.69078|.	0.924;0.876;0.052;0.997;0.734|.	P;P;B;D;B|.	0.72625|.	0.664;0.463;0.063;0.978;0.302|.	T|T	0.54695|0.54695	-0.8255|-0.8255	10|5	0.21014|.	T|.	0.42|.	-11.8851|-11.8851	16.2719|16.2719	0.82626|0.82626	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	474;474;257;475;446|.	Q32P44-2;Q32P44;G3V195;B7WPE2;G3V1D0|.	.;EMAL3_HUMAN;.;.;.|.	V|C	474;475;257;446;474|468	ENSP00000378254:L474V;ENSP00000278845:L475V;ENSP00000433417:L257V;ENSP00000435064:L446V;ENSP00000434513:L474V|.	ENSP00000278845:L475V|.	L|S	-|-	1|2	0|0	EML3|EML3	62131090|62131090	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	4.420000|4.420000	0.59841|0.59841	2.447000|2.447000	0.82792|0.82792	0.467000|0.467000	0.42956|0.42956	CTC|TCT		0.552	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1	NM_153265		27	90	0	0	0	1	0	27	90				
SPO11	23626	broad.mit.edu	37	20	55917836	55917836	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr20:55917836G>T	ENST00000371263.3	+	12	1120	c.1011G>T	c.(1009-1011)atG>atT	p.M337I	SPO11_ENST00000371260.4_Missense_Mutation_p.M295I|SPO11_ENST00000345868.4_Missense_Mutation_p.M299I	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	337					DNA catabolic process, endonucleolytic (GO:0000737)|female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|ovarian follicle development (GO:0001541)|protein localization to chromosome (GO:0034502)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|hydrolase activity (GO:0016787)			autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			GGGACCAAATGAAACTTGACA	0.333								Editing and processing nucleases																														ENST00000371263.3																			0				autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18						c.(1009-1011)atG>atT	Editing and processing nucleases	SPO11 meiotic protein covalently bound to DSB							99.0	89.0	93.0					20																	55917836		2203	4298	6501	SO:0001583	missense	23626				female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity	g.chr20:55917836G>T	AF169385	CCDS13456.1, CCDS13457.1	20q13.31	2013-06-05	2013-06-05		ENSG00000054796	ENSG00000054796			11250	protein-coding gene	gene with protein product	"""cancer/testis antigen 35"", ""spermatogenesis associated 43"""	605114	"""SPO11, meiotic protein covalently bound to DSB (S. cerevisiae)-like"", ""SPO11 meiotic protein covalently bound to DSB-like (S. cerevisiae)"", ""SPO11 meiotic protein covalently bound to DSB homolog (S. cerevisiae)"""			10534401	Standard	NM_012444		Approved	CT35, SPATA43, TOPVIA	uc002xye.3	Q9Y5K1	OTTHUMG00000032817	ENST00000371263.3:c.1011G>T	20.37:g.55917836G>T	ENSP00000360310:p.Met337Ile					SPO11_ENST00000345868.4_Missense_Mutation_p.M299I|SPO11_ENST00000371260.4_Missense_Mutation_p.M295I	p.M337I	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)		12	1120	+	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		337					Q5TCI1|Q8N4V0|Q9NQM7|Q9NQM8	Missense_Mutation	SNP	ENST00000371263.3	37	c.1011G>T	CCDS13456.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.816938	0.32145	.	.	ENSG00000054796	ENST00000371263;ENST00000345868;ENST00000371260	T;T;T	0.28255	1.62;1.62;1.62	5.15	4.19	0.49359	.	0.307141	0.43919	N	0.000504	T	0.21631	0.0521	L	0.41236	1.265	0.32549	N	0.532652	P;B	0.35226	0.491;0.239	B;B	0.27076	0.076;0.035	T	0.33343	-0.9872	10	0.59425	D	0.04	-16.1574	8.9462	0.35760	0.0804:0.0:0.7371:0.1825	.	299;337	Q9Y5K1-2;Q9Y5K1	.;SPO11_HUMAN	I	337;299;295	ENSP00000360310:M337I;ENSP00000316034:M299I;ENSP00000360307:M295I	ENSP00000316034:M299I	M	+	3	0	SPO11	55351243	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	2.842000	0.48230	1.296000	0.44742	0.591000	0.81541	ATG		0.333	SPO11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079836.2	NM_012444		3	15	1	0	1	1	1	3	15				
PRTG	283659	broad.mit.edu	37	15	55919293	55919293	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr15:55919293G>C	ENST00000389286.4	-	17	2887	c.2840C>G	c.(2839-2841)tCa>tGa	p.S947*		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GCCAGTCATTGATTTTTGGTC	0.358																																						ENST00000389286.4																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41						c.(2839-2841)tCa>tGa		protogenin							107.0	105.0	106.0					15																	55919293		1911	4120	6031	SO:0001587	stop_gained	283659				multicellular organismal development	integral to membrane		g.chr15:55919293G>C	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.2840C>G	15.37:g.55919293G>C	ENSP00000373937:p.Ser947*						p.S947*	NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	17	2887	-			947						Nonsense_Mutation	SNP	ENST00000389286.4	37	c.2840C>G	CCDS42040.1	.	.	.	.	.	.	.	.	.	.	G	41	8.655188	0.98901	.	.	ENSG00000166450	ENST00000389286	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-14.8814	17.6591	0.88187	0.0:0.0:1.0:0.0	.	.	.	.	X	947	.	ENSP00000373937:S947X	S	-	2	0	PRTG	53706585	1.000000	0.71417	0.422000	0.26621	0.993000	0.82548	8.723000	0.91458	2.422000	0.82143	0.557000	0.71058	TCA		0.358	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		10	33	0	0	0	1	0	10	33				
CYTH1	9267	broad.mit.edu	37	17	76694913	76694913	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr17:76694913C>T	ENST00000446868.3	-	8	758	c.688G>A	c.(688-690)Gag>Aag	p.E230K	CYTH1_ENST00000591455.1_Missense_Mutation_p.E230K|CYTH1_ENST00000585509.1_Missense_Mutation_p.E171K|CYTH1_ENST00000589297.1_Missense_Mutation_p.E171K|CYTH1_ENST00000361101.4_Missense_Mutation_p.E230K|CYTH1_ENST00000589296.1_Intron|RNU6-638P_ENST00000516582.1_RNA			Q15438	CYH1_HUMAN	cytohesin 1	230					establishment of epithelial cell polarity (GO:0090162)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						CGGAGGAGCTCCTCCGGCAGG	0.488																																						ENST00000589297.1																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						c.(511-513)Gag>Aag		cytohesin 1							154.0	158.0	157.0					17																	76694913		2203	4300	6503	SO:0001583	missense	9267				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr17:76694913C>T	M85169	CCDS32754.1, CCDS42392.2	17q25	2014-05-02	2008-08-14	2008-08-14	ENSG00000108669	ENSG00000108669		"""Pleckstrin homology (PH) domain containing"""	9501	protein-coding gene	gene with protein product		182115	"""pleckstrin homology, Sec7 and coiled-coil domains 1"""	PSCD1		1511013, 8449036, 21628335, 20018626	Standard	XM_006722180		Approved	B2-1, D17S811E, cytohesin-1	uc002jvw.3	Q15438	OTTHUMG00000150253	ENST00000446868.3:c.688G>A	17.37:g.76694913C>T	ENSP00000389095:p.Glu230Lys					CYTH1_ENST00000585509.1_Missense_Mutation_p.E171K|CYTH1_ENST00000591455.1_Missense_Mutation_p.E230K|CYTH1_ENST00000446868.3_Missense_Mutation_p.E230K|CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000361101.4_Missense_Mutation_p.E230K	p.E171K			Q15438	CYH1_HUMAN			8	1203	-			230			SEC7.		A6NFW7|B7Z1T4|Q9P123|Q9P124	Missense_Mutation	SNP	ENST00000446868.3	37	c.511G>A		.	.	.	.	.	.	.	.	.	.	C	20.5	4.006588	0.74932	.	.	ENSG00000108669	ENST00000446868;ENST00000361101;ENST00000539525;ENST00000537048;ENST00000262763;ENST00000392453	T;T	0.59364	0.27;0.27	4.8	4.8	0.61643	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.142303	0.64402	D	0.000006	T	0.76212	0.3956	M	0.89904	3.07	0.80722	D	1	B;B	0.31859	0.343;0.295	P;B	0.45971	0.499;0.419	T	0.80504	-0.1353	10	0.87932	D	0	.	18.0608	0.89377	0.0:1.0:0.0:0.0	.	230;230	Q15438;Q15438-2	CYH1_HUMAN;.	K	230;230;171;171;230;67	ENSP00000389095:E230K;ENSP00000354398:E230K	ENSP00000262763:E230K	E	-	1	0	CYTH1	74206508	1.000000	0.71417	1.000000	0.80357	0.640000	0.38277	7.542000	0.82095	2.465000	0.83290	0.655000	0.94253	GAG		0.488	CYTH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317099.1	NM_004762		58	128	0	0	0	1	0	58	128				
TENM2	57451	broad.mit.edu	37	5	167642273	167642273	+	Silent	SNP	G	G	A	rs374089694		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr5:167642273G>A	ENST00000518659.1	+	21	4113	c.4074G>A	c.(4072-4074)ccG>ccA	p.P1358P	TENM2_ENST00000520394.1_Silent_p.P1119P|TENM2_ENST00000403607.2_Silent_p.P1182P|TENM2_ENST00000545108.1_Silent_p.P1357P|TENM2_ENST00000519204.1_Silent_p.P1237P	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1358					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										TGATGAGCCCGAGAGGTAAAG	0.537																																						ENST00000519204.1																			0											c.(3709-3711)ccG>ccA		teneurin transmembrane protein 2		A		0,3900		0,0,1950	68.0	73.0	71.0		4047	-9.8	0.0	5		71	1,8309		0,1,4154	no	coding-synonymous	ODZ2	NM_001122679.1		0,1,6104	AA,AG,GG		0.012,0.0,0.0082		1349/2766	167642273	1,12209	1950	4155	6105	SO:0001819	synonymous_variant	57451							g.chr5:167642273G>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.4074G>A	5.37:g.167642273G>A						TENM2_ENST00000545108.1_Silent_p.P1357P|TENM2_ENST00000518659.1_Silent_p.P1358P|TENM2_ENST00000403607.2_Silent_p.P1182P|TENM2_ENST00000520394.1_Silent_p.P1119P	p.P1237P							20	3829	+								Q9ULU2	Silent	SNP	ENST00000518659.1	37	c.3711G>A																																																																																					0.537	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		17	51	0	0	0	1	0	17	51				
NOXRED1	122945	broad.mit.edu	37	14	77873011	77873011	+	Intron	SNP	T	T	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr14:77873011T>A	ENST00000380835.2	-	4	849				NOXRED1_ENST00000298358.3_Silent_p.P246P	NM_001113475.2	NP_001106946.1	Q6NXP6	NXRD1_HUMAN	NADP-dependent oxidoreductase domain containing 1						proline biosynthetic process (GO:0006561)		pyrroline-5-carboxylate reductase activity (GO:0004735)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						AAGATAGCAATGGGCCAACAG	0.443																																						ENST00000298358.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						c.(736-738)ccA>ccT		NADP-dependent oxidoreductase domain containing 1							77.0	68.0	71.0					14																	77873011		2203	4300	6503	SO:0001627	intron_variant	122945				proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity	g.chr14:77873011T>A	AK057371	CCDS45142.1	14q24.3	2011-09-30	2011-09-30	2011-09-30	ENSG00000165555	ENSG00000165555			20487	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 148"""	C14orf148			Standard	NM_001113475		Approved	FLJ32809	uc001xtr.3	Q6NXP6	OTTHUMG00000171554	ENST00000380835.2:c.682+55A>T	14.37:g.77873011T>A						NOXRED1_ENST00000380835.2_Intron	p.P246P			Q6NXP6	CN148_HUMAN			4	737	-			0					B3KQ47|O95435	Silent	SNP	ENST00000380835.2	37	c.738A>T	CCDS45142.1																																																																																				0.443	NOXRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414103.1	NM_138791		15	42	0	0	0	1	0	15	42				
LRRC36	55282	broad.mit.edu	37	16	67410682	67410682	+	Silent	SNP	G	G	A	rs371561086		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr16:67410682G>A	ENST00000329956.6	+	11	1732	c.1713G>A	c.(1711-1713)ccG>ccA	p.P571P	LRRC36_ENST00000541146.1_Intron|LRRC36_ENST00000563189.1_Silent_p.P450P|LRRC36_ENST00000435835.3_Intron|LRRC36_ENST00000290940.7_Intron	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	571										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		CTTCTCAGCCGAGGTGTTGCT	0.527																																						ENST00000329956.6																			0				endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24						c.(1711-1713)ccG>ccA		leucine rich repeat containing 36		G	,	0,4396		0,0,2198	186.0	171.0	176.0		1350,1713	3.5	1.0	16		176	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	LRRC36	NM_001161575.1,NM_018296.5	,	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	,	450/634,571/755	67410682	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	55282							g.chr16:67410682G>A	BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.1713G>A	16.37:g.67410682G>A						LRRC36_ENST00000563189.1_Silent_p.P450P|LRRC36_ENST00000290940.7_Intron|LRRC36_ENST00000541146.1_Intron|LRRC36_ENST00000435835.3_Intron	p.P571P	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)	11	1732	+		Ovarian(137;0.192)	571					A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Silent	SNP	ENST00000329956.6	37	c.1713G>A	CCDS32467.1																																																																																				0.527	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421770.1	NM_018296		22	81	0	0	0	1	0	22	81				
TTC29	83894	broad.mit.edu	37	4	147824762	147824762	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr4:147824762T>C	ENST00000325106.4	-	6	746	c.520A>G	c.(520-522)Aaa>Gaa	p.K174E	TTC29_ENST00000513335.1_Missense_Mutation_p.K200E|TTC29_ENST00000398886.4_Missense_Mutation_p.K200E	NM_031956.2	NP_114162.2	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	174										breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CAGTCAATTTTGATCAGCTGA	0.438																																						ENST00000513335.1																			0				breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26						c.(598-600)Aaa>Gaa		tetratricopeptide repeat domain 29							99.0	96.0	97.0					4																	147824762		1895	4119	6014	SO:0001583	missense	83894						binding	g.chr4:147824762T>C	AF345910	CCDS47141.1, CCDS75200.1	4q31.23	2013-01-11				ENSG00000137473		"""Tetratricopeptide (TTC) repeat domain containing"""	29936	protein-coding gene	gene with protein product						12477932	Standard	NM_031956		Approved	NYD-SP14	uc003ikw.4	Q8NA56		ENST00000325106.4:c.520A>G	4.37:g.147824762T>C	ENSP00000316740:p.Lys174Glu					TTC29_ENST00000325106.4_Missense_Mutation_p.K174E|TTC29_ENST00000398886.4_Missense_Mutation_p.K200E	p.K200E			Q8NA56	TTC29_HUMAN			7	797	-	all_hematologic(180;0.151)		174					A4GU95|Q9BXB6	Missense_Mutation	SNP	ENST00000325106.4	37	c.598A>G	CCDS47141.1	.	.	.	.	.	.	.	.	.	.	T	12.90	2.077897	0.36662	.	.	ENSG00000137473	ENST00000513335;ENST00000398886;ENST00000325106;ENST00000398883;ENST00000504425	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	5.62	3.0	0.34707	.	0.232859	0.41823	D	0.000810	T	0.13970	0.0338	L	0.53249	1.67	0.28991	N	0.888028	P;P;P	0.45715	0.495;0.865;0.665	B;B;B	0.39503	0.104;0.301;0.177	T	0.09058	-1.0692	10	0.26408	T	0.33	-27.5771	7.0465	0.25048	0.0:0.0735:0.2803:0.6461	.	174;200;174	E7EQ14;G5E9Z5;Q8NA56	.;.;TTC29_HUMAN	E	200;200;174;174;174	ENSP00000423505:K200E;ENSP00000381861:K200E;ENSP00000316740:K174E;ENSP00000425778:K174E	ENSP00000316740:K174E	K	-	1	0	TTC29	148044212	1.000000	0.71417	0.998000	0.56505	0.537000	0.34900	1.454000	0.35178	0.936000	0.37367	0.528000	0.53228	AAA		0.438	TTC29-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_031956		4	7	0	0	0	1	0	4	7				
PCNX	22990	broad.mit.edu	37	14	71444820	71444820	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr14:71444820C>G	ENST00000304743.2	+	6	2212	c.1766C>G	c.(1765-1767)aCc>aGc	p.T589S	PCNX_ENST00000238570.5_Missense_Mutation_p.T589S|PCNX_ENST00000439984.3_Missense_Mutation_p.T589S	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	589						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GTTTCTGGTACCAAGCCACAC	0.478																																						ENST00000304743.2																			0				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(1765-1767)aCc>aGc		pecanex homolog (Drosophila)							114.0	107.0	109.0					14																	71444820		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71444820C>G	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.1766C>G	14.37:g.71444820C>G	ENSP00000304192:p.Thr589Ser					PCNX_ENST00000238570.5_Missense_Mutation_p.T589S|PCNX_ENST00000439984.3_Missense_Mutation_p.T589S	p.T589S	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	6	2212	+			589					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.1766C>G	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.464841	0.43839	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.00976	5.48;5.48;5.48	5.87	4.96	0.65561	.	0.321321	0.33144	N	0.005238	T	0.00906	0.0030	N	0.24115	0.695	0.43913	D	0.99655	B;B;B	0.17667	0.008;0.008;0.023	B;B;B	0.16289	0.012;0.007;0.015	T	0.46275	-0.9203	10	0.02654	T	1	.	16.8155	0.85733	0.0:0.8712:0.1288:0.0	.	589;589;589	B2RTR6;Q96RV3;Q96RV3-2	.;PCX1_HUMAN;.	S	589	ENSP00000304192:T589S;ENSP00000238570:T589S;ENSP00000396617:T589S	ENSP00000238570:T589S	T	+	2	0	PCNX	70514573	1.000000	0.71417	0.989000	0.46669	0.841000	0.47740	3.630000	0.54273	1.446000	0.47643	0.655000	0.94253	ACC		0.478	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		15	54	0	0	0	1	0	15	54				
AGER	177	broad.mit.edu	37	6	32148967	32148967	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr6:32148967G>A	ENST00000375076.4	-	11	1269	c.1168C>T	c.(1168-1170)Cag>Tag	p.Q390*	AGER_ENST00000375065.5_3'UTR|AGER_ENST00000375069.3_Nonsense_Mutation_p.Q280*|AGER_ENST00000375067.3_Missense_Mutation_p.S338L|AGER_ENST00000375070.3_Nonsense_Mutation_p.Q421*|AGER_ENST00000375055.2_3'UTR|RNF5_ENST00000427134.2_Intron|AGER_ENST00000438221.2_3'UTR	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	390					cell surface receptor signaling pathway (GO:0007166)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|neuron projection development (GO:0031175)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|response to wounding (GO:0009611)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|receptor activity (GO:0004872)|S100 protein binding (GO:0044548)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						TCCTCCGACTGATTCAGTTCT	0.572																																						ENST00000375076.4																			0				breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						c.(1168-1170)Cag>Tag		advanced glycosylation end product-specific receptor							176.0	186.0	183.0					6																	32148967		2203	4300	6503	SO:0001587	stop_gained	177				cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity	g.chr6:32148967G>A	M91211	CCDS4746.1, CCDS4747.1, CCDS56417.1, CCDS56418.1, CCDS75429.1	6p21.3	2013-01-29			ENSG00000204305	ENSG00000204305		"""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	320	protein-coding gene	gene with protein product		600214				7713518	Standard	NM_001136		Approved	RAGE	uc003oap.2	Q15109	OTTHUMG00000031120	ENST00000375076.4:c.1168C>T	6.37:g.32148967G>A	ENSP00000364217:p.Gln390*					AGER_ENST00000375067.3_Missense_Mutation_p.S338L|AGER_ENST00000438221.2_3'UTR|RNF5_ENST00000427134.2_Intron|AGER_ENST00000375070.3_Nonsense_Mutation_p.Q421*|AGER_ENST00000375065.5_3'UTR|AGER_ENST00000375055.2_3'UTR|AGER_ENST00000375069.3_Nonsense_Mutation_p.Q280*	p.Q390*	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN			11	1269	-			390					A2BFI7|A6NKF0|A7Y2U9|B0V176|Q15279|Q3L1R4|Q3L1R5|Q3L1R6|Q3L1R7|Q3L1R8|Q3L1S0|Q86SN1|Q9H2X7|Q9Y3R3|V5R6A3	Nonsense_Mutation	SNP	ENST00000375076.4	37	c.1168C>T	CCDS4746.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.436508|5.436508	0.96168|0.96168	.|.	.|.	ENSG00000204305|ENSG00000204305	ENST00000375076;ENST00000375070;ENST00000546237;ENST00000375069;ENST00000375059|ENST00000375067	.|D	.|0.85339	.|-1.97	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	0.000000|.	0.56097|.	D|.	0.000032|.	.|T	.|0.78799	.|0.4340	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|P	.|0.37330	.|0.59	.|B	.|0.38954	.|0.286	.|T	.|0.83180	.|-0.0089	.|8	0.87932|0.87932	D|D	0|0	-17.039|-17.039	14.4774|14.4774	0.67557|0.67557	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|338	.|Q15109-2	.|.	X|L	390;421;139;280;119|338	.|ENSP00000364208:S338L	ENSP00000364199:Q119X|ENSP00000364208:S338L	Q|S	-|-	1|2	0|0	AGER|AGER	32256945|32256945	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.844000|0.844000	0.47949|0.47949	3.283000|3.283000	0.51701|0.51701	2.481000|2.481000	0.83766|0.83766	0.563000|0.563000	0.77884|0.77884	CAG|TCA		0.572	AGER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076200.1	NM_001136		62	206	0	0	0	1	0	62	206				
RHCE	6006	broad.mit.edu	37	1	25717249	25717249	+	Silent	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:25717249C>T	ENST00000294413.7	-	5	850	c.792G>A	c.(790-792)aaG>aaA	p.K264K	RHCE_ENST00000425135.1_Silent_p.K264K|RHCE_ENST00000340849.4_Intron|RHCE_ENST00000346452.4_Intron|RHCE_ENST00000413854.1_Silent_p.K264K|RHCE_ENST00000349320.3_Silent_p.K248K|RHCE_ENST00000243186.6_Silent_p.K264K|RHCE_ENST00000374352.2_Silent_p.K248K|RHCE_ENST00000349438.4_Silent_p.K264K|RHCE_ENST00000455194.1_Intron	NM_020485.4	NP_065231	P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	264						integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)			endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		CCATGCTGATCTTCCTTTGGG	0.557																																						ENST00000349320.3																			0				endometrium(8)|large_intestine(6)|lung(3)	17						c.(742-744)aaG>aaA		Rh blood group, CcEe antigens							142.0	122.0	128.0					1																	25717249		2203	4300	6503	SO:0001819	synonymous_variant	6006					integral to plasma membrane		g.chr1:25717249C>T	BC075081	CCDS30634.1, CCDS30635.1, CCDS30636.1, CCDS30637.1	1p36.11	2014-09-17	2006-02-23		ENSG00000188672	ENSG00000188672		"""CD molecules"", ""Blood group antigens"""	10008	protein-coding gene	gene with protein product		111700	"""Rhesus blood group, CcEe antigens"""	RH		8220426	Standard	NM_138618		Approved	CD240CE	uc001bkf.3	P18577	OTTHUMG00000007650	ENST00000294413.7:c.792G>A	1.37:g.25717249C>T						RHCE_ENST00000294413.7_Silent_p.K264K|RHCE_ENST00000340849.4_Intron|RHCE_ENST00000243186.6_Silent_p.K264K|RHCE_ENST00000455194.1_Intron|RHCE_ENST00000425135.1_Silent_p.K264K|RHCE_ENST00000413854.1_Silent_p.K264K|RHCE_ENST00000349438.4_Silent_p.K264K|RHCE_ENST00000374352.2_Silent_p.K248K|RHCE_ENST00000346452.4_Intron	p.K248K			P18577	RHCE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)	7	1132	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	264					A7DW68|B7UDF3|B7UDF4|B7UDF5|B7UDF6|B7UDF7|B7UDF8|B7UDF9|B7UDG0|B7UDG1|B7UDG2|B7UDG3|Q02163|Q02164|Q02165|Q16160|Q2MJW0|Q2VC86|Q3LTM6|Q6AZX5|Q6J2U3|Q7RU06|Q8IZT2|Q8IZT3|Q8IZT4|Q8IZT5|Q9UD13|Q9UD14|Q9UD15|Q9UD16|Q9UD73|Q9UD74|Q9UEC2|Q9UEC3|Q9UPN0	Silent	SNP	ENST00000294413.7	37	c.744G>A	CCDS30635.1																																																																																				0.557	RHCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020312.2	NM_020485		36	100	0	0	0	1	0	36	100				
ORC6	23594	broad.mit.edu	37	16	46731459	46731459	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr16:46731459G>A	ENST00000219097.2	+	7	781	c.721G>A	c.(721-723)Gaa>Aaa	p.E241K	ORC6_ENST00000575571.1_3'UTR|ORC6_ENST00000566860.1_Missense_Mutation_p.E192K|ORC6_ENST00000568364.2_3'UTR	NM_014321.3	NP_055136.1	Q9Y5N6	ORC6_HUMAN	origin recognition complex, subunit 6	241					DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	membrane (GO:0016020)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|origin recognition complex (GO:0000808)	DNA binding (GO:0003677)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	8						AAAAATTTTGGAAAATGCTGC	0.398																																						ENST00000566860.1																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	8						c.(574-576)Gaa>Aaa		origin recognition complex, subunit 6							67.0	65.0	66.0					16																	46731459		2203	4300	6503	SO:0001583	missense	23594				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA binding|protein binding	g.chr16:46731459G>A	AF139658	CCDS10722.1	16q12	2010-10-12	2010-10-12	2010-10-12	ENSG00000091651	ENSG00000091651			17151	protein-coding gene	gene with protein product		607213	"""origin recognition complex, subunit 6 homolog-like (yeast)"", ""origin recognition complex, subunit 6 like (yeast)"""	ORC6L		10945994	Standard	NM_014321		Approved		uc002eeh.3	Q9Y5N6	OTTHUMG00000132539	ENST00000219097.2:c.721G>A	16.37:g.46731459G>A	ENSP00000219097:p.Glu241Lys					ORC6_ENST00000568364.2_3'UTR|ORC6_ENST00000219097.2_Missense_Mutation_p.E241K|ORC6_ENST00000575571.1_3'UTR	p.E192K			Q9Y5N6	ORC6_HUMAN			6	861	+			241					B3KN89	Missense_Mutation	SNP	ENST00000219097.2	37	c.574G>A	CCDS10722.1	.	.	.	.	.	.	.	.	.	.	G	34	5.368381	0.95900	.	.	ENSG00000091651	ENST00000219097	T	0.71461	-0.57	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.78635	0.4314	M	0.77103	2.36	0.58432	D	0.999999	D	0.53312	0.959	P	0.47744	0.556	T	0.80984	-0.1138	10	0.59425	D	0.04	.	19.6735	0.95921	0.0:0.0:1.0:0.0	.	241	Q9Y5N6	ORC6_HUMAN	K	241	ENSP00000219097:E241K	ENSP00000219097:E241K	E	+	1	0	ORC6	45288960	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.982000	0.76173	2.736000	0.93811	0.655000	0.94253	GAA		0.398	ORC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255739.3			10	22	0	0	0	1	0	10	22				
SLC4A4	8671	broad.mit.edu	37	4	72102335	72102335	+	Silent	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr4:72102335C>G	ENST00000264485.5	+	2	159	c.42C>G	c.(40-42)ctC>ctG	p.L14L	SLC4A4_ENST00000351898.6_Silent_p.L14L|SLC4A4_ENST00000425175.1_Silent_p.L14L	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	14					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	CTTCCTTCCTCAAGCATGTGT	0.423																																						ENST00000425175.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(40-42)ctC>ctG		solute carrier family 4 (sodium bicarbonate cotransporter), member 4							116.0	118.0	117.0					4																	72102335		1886	4107	5993	SO:0001819	synonymous_variant	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72102335C>G	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.42C>G	4.37:g.72102335C>G						SLC4A4_ENST00000264485.5_Silent_p.L14L|SLC4A4_ENST00000351898.6_Silent_p.L14L	p.L14L	NM_001134742.1	NP_001128214.1	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		2	159	+			14					C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Silent	SNP	ENST00000264485.5	37	c.42C>G	CCDS43236.1																																																																																				0.423	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		6	34	0	0	0	1	0	6	34				
SRRT	51593	broad.mit.edu	37	7	100482979	100482979	+	Silent	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr7:100482979C>T	ENST00000347433.4	+	10	1463	c.1305C>T	c.(1303-1305)gcC>gcT	p.A435A	SRRT_ENST00000457580.2_Silent_p.A435A|SRRT_ENST00000388793.4_Silent_p.A434A|SRRT_ENST00000432932.1_Silent_p.A434A			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	435					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TCTCCCGGGCCGAGATCATCT	0.652																																						ENST00000388793.4																			0				breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(1300-1302)gcC>gcT		serrate RNA effector molecule homolog (Arabidopsis)							36.0	36.0	36.0					7																	100482979		2203	4300	6503	SO:0001819	synonymous_variant	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100482979C>T		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.1305C>T	7.37:g.100482979C>T						SRRT_ENST00000347433.4_Silent_p.A435A|SRRT_ENST00000457580.2_Silent_p.A435A|SRRT_ENST00000432932.1_Silent_p.A434A	p.A434A	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN			10	1522	+			435					A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Silent	SNP	ENST00000347433.4	37	c.1302C>T	CCDS34709.1																																																																																				0.652	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		13	44	0	0	0	1	0	13	44				
LRRTM1	347730	broad.mit.edu	37	2	80530254	80530254	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr2:80530254G>T	ENST00000295057.3	-	2	1347	c.691C>A	c.(691-693)Cgc>Agc	p.R231S	LRRTM1_ENST00000409148.1_Missense_Mutation_p.R231S|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	231					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.R231C(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GAGATGAGGCGCGGGAAGTGG	0.582										HNSCC(69;0.2)																												ENST00000295057.3																			2	Substitution - Missense(2)	p.R231C(2)	large_intestine(2)	NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						c.(691-693)Cgc>Agc		leucine rich repeat transmembrane neuronal 1							107.0	103.0	104.0					2																	80530254		2203	4300	6503	SO:0001583	missense	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530254G>T	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.691C>A	2.37:g.80530254G>T	ENSP00000295057:p.Arg231Ser	HNSCC(69;0.2)				CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.R231S|CTNNA2_ENST00000496558.1_Intron	p.R231S	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN			2	1347	-			231					A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	c.691C>A	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.573146	0.65765	.	.	ENSG00000162951	ENST00000295057;ENST00000409148	T;T	0.78816	-1.21;-1.21	5.26	5.26	0.73747	.	0.000000	0.85682	U	0.000000	D	0.85927	0.5811	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85688	0.1305	9	.	.	.	.	13.6989	0.62597	0.0:0.0:0.8066:0.1934	.	231	Q86UE6	LRRT1_HUMAN	S	231	ENSP00000295057:R231S;ENSP00000386646:R231S	.	R	-	1	0	LRRTM1	80383765	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.178000	0.71968	2.416000	0.81992	0.655000	0.94253	CGC		0.582	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		25	73	1	0	1.42536e-11	1	1.61361e-11	25	73				
PTPN7	5778	broad.mit.edu	37	1	202124662	202124662	+	Splice_Site	SNP	C	C	G	rs368406422		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:202124662C>G	ENST00000308986.5	-	5	597	c.467G>C	c.(466-468)cGa>cCa	p.R156P	PTPN7_ENST00000544762.1_Intron|PTPN7_ENST00000309017.3_Splice_Site_p.R261P|PTPN7_ENST00000492977.1_5'UTR|PTPN7_ENST00000543735.1_5'UTR|PTPN7_ENST00000367279.4_Splice_Site_p.R195P			P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7	156	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						GCCACTCACTCGGATGTAGTT	0.547																																						ENST00000309017.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						c.e5+1		protein tyrosine phosphatase, non-receptor type 7							82.0	66.0	72.0					1																	202124662		2203	4300	6503	SO:0001630	splice_region_variant	5778					cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr1:202124662C>G	BC001746	CCDS1422.1, CCDS1423.1, CCDS1423.2	1q32.1	2011-06-09			ENSG00000143851	ENSG00000143851		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9659	protein-coding gene	gene with protein product		176889				1510684	Standard	NM_002832		Approved	HEPTP, LC-PTP	uc010ppx.2	P35236	OTTHUMG00000035931	ENST00000308986.5:c.468+1G>C	1.37:g.202124662C>G						PTPN7_ENST00000308986.5_Splice_Site_p.R156_splice|PTPN7_ENST00000492977.1_5'UTR|PTPN7_ENST00000543735.1_5'UTR|PTPN7_ENST00000544762.1_Intron|PTPN7_ENST00000367279.4_Splice_Site_p.R195_splice	p.R261_splice	NM_001199797.1|NM_002832.3	NP_001186726.1|NP_002823.3	P35236	PTN7_HUMAN			5	1555	-			156			Tyrosine-protein phosphatase.		B3KXE1|Q53XK4|Q5SXQ0|Q5SXQ1|Q9BV05	Splice_Site	SNP	ENST00000308986.5	37	c.783_splice		.	.	.	.	.	.	.	.	.	.	C	22.4	4.289937	0.80914	.	.	ENSG00000143851	ENST00000367279;ENST00000309017;ENST00000308986;ENST00000477554;ENST00000476061	T;T;T;T;T	0.13657	2.57;2.57;2.57;2.57;2.83	5.26	5.26	0.73747	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.166681	0.28343	N	0.015693	T	0.28632	0.0709	L	0.38175	1.15	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;0.999;0.999;0.999	D;D;D;D;D	0.91635	0.999;0.99;0.995;0.995;0.99	T	0.01048	-1.1469	10	0.62326	D	0.03	-12.6008	15.4638	0.75381	0.0:0.8513:0.1487:0.0	.	230;104;108;156;195	B4DZD9;B4DVF0;Q8NFX3;P35236;P35236-2	.;.;.;PTN7_HUMAN;.	P	195;261;156;237;155	ENSP00000356248:R195P;ENSP00000309116:R261P;ENSP00000311133:R156P;ENSP00000418416:R237P;ENSP00000419993:R155P	ENSP00000311133:R156P	R	-	2	0	PTPN7	200391285	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	2.852000	0.48310	2.449000	0.82847	0.655000	0.94253	CGA		0.547	PTPN7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_002832	Missense_Mutation	8	20	0	0	0	1	0	8	20				
PPP3CA	5530	broad.mit.edu	37	4	101947115	101947115	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr4:101947115G>A	ENST00000394854.3	-	14	2156	c.1473C>T	c.(1471-1473)ccC>ccT	p.P491P	PPP3CA_ENST00000323055.6_Silent_p.P439P|PPP3CA_ENST00000507176.1_Silent_p.P393P|PPP3CA_ENST00000523694.2_Silent_p.P424P|PPP3CA_ENST00000512215.1_Silent_p.P259P|PPP3CA_ENST00000394853.4_Silent_p.P481P	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	491					calcineurin-NFAT signaling cascade (GO:0033173)|calcium ion transport (GO:0006816)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|multicellular organismal response to stress (GO:0033555)|negative regulation of insulin secretion (GO:0046676)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|protein import into nucleus (GO:0006606)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic transmission (GO:0050804)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|skeletal muscle fiber development (GO:0048741)|T cell activation (GO:0042110)|transition between fast and slow fiber (GO:0014883)	calcineurin complex (GO:0005955)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		TGGCGTCAGAGGGCATGGCAT	0.493																																						ENST00000394854.3																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(1471-1473)ccC>ccT		protein phosphatase 3, catalytic subunit, alpha isozyme							240.0	224.0	230.0					4																	101947115		2203	4300	6503	SO:0001819	synonymous_variant	5530				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding	g.chr4:101947115G>A		CCDS34037.1, CCDS47113.1, CCDS47114.1	4q24	2010-03-17	2010-03-05		ENSG00000138814	ENSG00000138814	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9314	protein-coding gene	gene with protein product	"""calcineurin A alpha"", ""protein phosphatase 2B, catalytic subunit, alpha isoform"""	114105	"""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform (calcineurin A alpha)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform"""	CALN, CALNA		2848250, 1659808	Standard	NM_000944		Approved	CNA1, PPP2B	uc011cen.1	Q08209	OTTHUMG00000133839	ENST00000394854.3:c.1473C>T	4.37:g.101947115G>A						PPP3CA_ENST00000512215.1_Silent_p.P259P|PPP3CA_ENST00000523694.2_Silent_p.P424P|PPP3CA_ENST00000323055.6_Silent_p.P439P|PPP3CA_ENST00000394853.4_Silent_p.P481P|PPP3CA_ENST00000507176.1_Silent_p.P393P	p.P491P	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)	14	2156	-			491					A1A441|A8K3B7|A8W6Z7|A8W6Z8|B5BUA2|Q8TAW9	Silent	SNP	ENST00000394854.3	37	c.1473C>T	CCDS34037.1																																																																																				0.493	PPP3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258379.2	NM_000944		30	118	0	0	0	1	0	30	118				
ABCA12	26154	broad.mit.edu	37	2	215809784	215809784	+	Silent	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr2:215809784G>C	ENST00000272895.7	-	49	7503	c.7284C>G	c.(7282-7284)ctC>ctG	p.L2428L	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Silent_p.L2110L	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2428	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGATCTTCCAGAGGTGCCGTT	0.383																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(7282-7284)ctC>ctG		ATP-binding cassette, sub-family A (ABC1), member 12							134.0	114.0	121.0					2																	215809784		2203	4300	6503	SO:0001819	synonymous_variant	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215809784G>C	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.7284C>G	2.37:g.215809784G>C						ABCA12_ENST00000389661.4_Silent_p.L2110L|AC072062.1_ENST00000607412.1_RNA	p.L2428L	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	49	7503	-		Renal(323;0.127)	2428			ABC transporter 2.		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	ENST00000272895.7	37	c.7284C>G	CCDS33372.1																																																																																				0.383	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		4	24	0	0	0	1	0	4	24				
DDX51	317781	broad.mit.edu	37	12	132627407	132627407	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr12:132627407G>C	ENST00000397333.3	-	3	574	c.536C>G	c.(535-537)cCa>cGa	p.P179R	NOC4L_ENST00000330579.1_5'Flank	NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	179					rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		CAGCCACCTTGGCAGGAAAGG	0.572																																						ENST00000397333.3																			0				endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(535-537)cCa>cGa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 51							69.0	75.0	73.0					12																	132627407		1974	4163	6137	SO:0001583	missense	317781				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:132627407G>C	BC040185	CCDS41865.1	12q24.33	2005-10-12				ENSG00000185163		"""DEAD-boxes"""	20082	protein-coding gene	gene with protein product							Standard	NM_175066		Approved		uc001ujy.4	Q8N8A6		ENST00000397333.3:c.536C>G	12.37:g.132627407G>C	ENSP00000380495:p.Pro179Arg						p.P179R	NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)	3	574	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)	179					A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	Missense_Mutation	SNP	ENST00000397333.3	37	c.536C>G	CCDS41865.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.831228	0.50845	.	.	ENSG00000185163	ENST00000397333	T	0.02498	4.27	4.56	4.56	0.56223	.	0.055694	0.64402	D	0.000001	T	0.11024	0.0269	L	0.54323	1.7	0.58432	D	0.999999	D	0.71674	0.998	D	0.67548	0.952	T	0.01156	-1.1434	10	0.72032	D	0.01	-5.5698	14.8393	0.70212	0.0:0.0:1.0:0.0	.	179	Q8N8A6	DDX51_HUMAN	R	179	ENSP00000380495:P179R	ENSP00000380495:P179R	P	-	2	0	DDX51	131193360	1.000000	0.71417	0.868000	0.34077	0.003000	0.03518	6.810000	0.75216	2.078000	0.62432	0.484000	0.47621	CCA		0.572	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398978.1	NM_175066		15	68	0	0	0	1	0	15	68				
BCL9	607	broad.mit.edu	37	1	147092152	147092152	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:147092152C>G	ENST00000234739.3	+	8	2931	c.2191C>G	c.(2191-2193)Cag>Gag	p.Q731E		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	731	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					ATCCAACTCTCAGATGATACC	0.537			T	"""IGH@, IGL@"""	B-ALL																																	ENST00000234739.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"""IGH@, IGL@"""		B-ALL		0				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(2191-2193)Cag>Gag		B-cell CLL/lymphoma 9							42.0	42.0	42.0					1																	147092152		2203	4300	6503	SO:0001583	missense	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147092152C>G	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.2191C>G	1.37:g.147092152C>G	ENSP00000234739:p.Gln731Glu						p.Q731E	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN			8	2931	+	all_hematologic(923;0.115)		731			Pro-rich.		Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	c.2191C>G	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.636855	0.29068	.	.	ENSG00000116128	ENST00000234739	T	0.47177	0.85	5.0	5.0	0.66597	.	0.204155	0.44688	D	0.000431	T	0.21145	0.0509	N	0.19112	0.55	0.43787	D	0.996325	B;B	0.23316	0.083;0.083	B;B	0.14578	0.011;0.011	T	0.03034	-1.1080	10	0.27785	T	0.31	-2.3616	18.493	0.90854	0.0:1.0:0.0:0.0	.	731;731	Q1JQ81;O00512	.;BCL9_HUMAN	E	731	ENSP00000234739:Q731E	ENSP00000234739:Q731E	Q	+	1	0	BCL9	145558776	1.000000	0.71417	0.901000	0.35422	0.890000	0.51754	4.617000	0.61204	2.607000	0.88179	0.655000	0.94253	CAG		0.537	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		9	24	0	0	0	1	0	9	24				
ABCA12	26154	broad.mit.edu	37	2	215852510	215852510	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr2:215852510G>A	ENST00000272895.7	-	27	4056	c.3837C>T	c.(3835-3837)taC>taT	p.Y1279Y	ABCA12_ENST00000389661.4_Silent_p.Y961Y	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1279					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTGCCATACCGTATGTCCCTG	0.413																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(3835-3837)taC>taT		ATP-binding cassette, sub-family A (ABC1), member 12							36.0	34.0	35.0					2																	215852510		2203	4300	6503	SO:0001819	synonymous_variant	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215852510G>A	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.3837C>T	2.37:g.215852510G>A						ABCA12_ENST00000389661.4_Silent_p.Y961Y	p.Y1279Y	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	27	4056	-		Renal(323;0.127)	1279					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	ENST00000272895.7	37	c.3837C>T	CCDS33372.1																																																																																				0.413	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		5	12	0	0	0	1	0	5	12				
SPINK14	408187	broad.mit.edu	37	5	147553847	147553847	+	Silent	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr5:147553847C>G	ENST00000356972.1	+	3	162	c.162C>G	c.(160-162)gtC>gtG	p.V54V	SPINK14_ENST00000562793.1_Intron	NM_001001325.1	NP_001001325.1	Q6IE38	ISK14_HUMAN	serine peptidase inhibitor, Kazal type 14 (putative)	54	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|large_intestine(1)|lung(1)	3						ATGGAACGGTCAACCCCTGCC	0.413																																						ENST00000356972.1																			0				breast(1)|large_intestine(1)|lung(1)	3						c.(160-162)gtC>gtG		serine peptidase inhibitor, Kazal type 14 (putative)							117.0	117.0	117.0					5																	147553847		1498	3127	4625	SO:0001819	synonymous_variant	408187					extracellular region	serine-type endopeptidase inhibitor activity	g.chr5:147553847C>G		CCDS4288.1	5q32	2011-08-31			ENSG00000196800	ENSG00000196800		"""Serine peptidase inhibitors, Kazal type"""	33825	protein-coding gene	gene with protein product							Standard	NM_001001325		Approved	SPINK5L2	uc031sls.1	Q6IE38	OTTHUMG00000129732	ENST00000356972.1:c.162C>G	5.37:g.147553847C>G						SPINK14_ENST00000562793.1_Intron	p.V54V	NM_001001325.1	NP_001001325.1	Q6IE38	ISK14_HUMAN			3	162	+			54			Kazal-like.			Silent	SNP	ENST00000356972.1	37	c.162C>G	CCDS4288.1																																																																																				0.413	SPINK14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251943.2	NM_001001325		16	19	0	0	0	1	0	16	19				
IGF2R	3482	broad.mit.edu	37	6	160464244	160464244	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr6:160464244C>A	ENST00000356956.1	+	12	1693	c.1545C>A	c.(1543-1545)ttC>ttA	p.F515L		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	515					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	AGCATTTTTTCATTAATATTT	0.478																																						ENST00000356956.1																			0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(1543-1545)ttC>ttA		insulin-like growth factor 2 receptor							142.0	132.0	136.0					6																	160464244		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160464244C>A	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.1545C>A	6.37:g.160464244C>A	ENSP00000349437:p.Phe515Leu						p.F515L	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	12	1693	+		Breast(66;0.000777)|Ovarian(120;0.0305)	515					Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.1545C>A	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.474210	0.84640	.	.	ENSG00000197081	ENST00000356956	T	0.02421	4.3	5.52	5.52	0.82312	Mannose-6-phosphate receptor, binding (1);	0.110175	0.64402	D	0.000004	T	0.04588	0.0125	L	0.48362	1.52	0.42030	D	0.991026	D	0.67145	0.996	P	0.60117	0.869	T	0.56583	-0.7955	10	0.30854	T	0.27	-19.2531	14.7023	0.69164	0.0:0.9289:0.0:0.0711	.	515	P11717	MPRI_HUMAN	L	515	ENSP00000349437:F515L	ENSP00000349437:F515L	F	+	3	2	IGF2R	160384234	1.000000	0.71417	0.919000	0.36401	0.695000	0.40330	2.115000	0.41921	2.595000	0.87683	0.655000	0.94253	TTC		0.478	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		23	62	1	0	2.89027e-11	1	3.24749e-11	23	62				
HAO1	54363	broad.mit.edu	37	20	7886943	7886943	+	Silent	SNP	A	A	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr20:7886943A>G	ENST00000378789.3	-	4	630	c.579T>C	c.(577-579)ttT>ttC	p.F193F		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	193	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CCTCAGGAGAAAATGATAAAG	0.343																																						ENST00000378789.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(577-579)ttT>ttC		hydroxyacid oxidase (glycolate oxidase) 1							75.0	76.0	76.0					20																	7886943		2203	4300	6503	SO:0001819	synonymous_variant	54363				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity	g.chr20:7886943A>G	AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.579T>C	20.37:g.7886943A>G							p.F193F	NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN			4	630	-			193			FMN hydroxy acid dehydrogenase.		Q14CQ0|Q9UPZ0|Q9Y3I7	Silent	SNP	ENST00000378789.3	37	c.579T>C	CCDS13100.1																																																																																				0.343	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2			3	16	0	0	0	1	0	3	16				
VPS13C	54832	broad.mit.edu	37	15	62226518	62226518	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr15:62226518C>A	ENST00000261517.5	-	49	5841	c.5768G>T	c.(5767-5769)tGg>tTg	p.W1923L	VPS13C_ENST00000395896.4_Missense_Mutation_p.W1923L|VPS13C_ENST00000249837.3_Missense_Mutation_p.W1880L|VPS13C_ENST00000395898.3_Missense_Mutation_p.W1880L	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TGAGTCTGTCCAATCTTCTTG	0.274																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(5767-5769)tGg>tTg		vacuolar protein sorting 13 homolog C (S. cerevisiae)							121.0	130.0	127.0					15																	62226518		2203	4297	6500	SO:0001583	missense	54832				protein localization			g.chr15:62226518C>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.5768G>T	15.37:g.62226518C>A	ENSP00000261517:p.Trp1923Leu					VPS13C_ENST00000395896.4_Missense_Mutation_p.W1923L|VPS13C_ENST00000395898.3_Missense_Mutation_p.W1880L|VPS13C_ENST00000249837.3_Missense_Mutation_p.W1880L	p.W1923L	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			49	5841	-			1923						Missense_Mutation	SNP	ENST00000261517.5	37	c.5768G>T	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	0.567	-0.842638	0.02671	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.15372	2.43;2.43;2.43	5.19	1.56	0.23342	.	1.025670	0.07740	N	0.946722	T	0.04003	0.0112	N	0.00436	-1.5	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.39165	-0.9627	10	0.06625	T	0.88	.	7.6408	0.28292	0.6507:0.2774:0.0719:0.0	.	1880;1923;1880;1923	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	L	1880;1923;1923;1923	ENSP00000249837:W1880L;ENSP00000261517:W1923L;ENSP00000379233:W1923L	ENSP00000249837:W1880L	W	-	2	0	VPS13C	60013810	0.001000	0.12720	0.001000	0.08648	0.205000	0.24178	1.263000	0.33004	0.004000	0.14682	-0.271000	0.10264	TGG		0.274	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		13	49	1	0	2.27111e-07	1	2.41607e-07	13	49				
RCC1	1104	broad.mit.edu	37	1	28858861	28858861	+	Splice_Site	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:28858861G>A	ENST00000373833.6	+	7	725	c.440G>A	c.(439-441)cGg>cAg	p.R147Q	RCC1_ENST00000373832.1_Splice_Site_p.R147Q|RCC1_ENST00000373831.3_Splice_Site_p.R178Q|RCC1_ENST00000398958.2_Splice_Site_p.R147Q|RCC1_ENST00000429051.1_3'UTR			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	147					chromosome segregation (GO:0007059)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of Ran GTPase activity (GO:0032853)|regulation of mitosis (GO:0007088)|spindle assembly (GO:0051225)|viral process (GO:0016032)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosomal DNA binding (GO:0031492)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		GGCTCCTTCCGGGTAAGGCTG	0.547																																						ENST00000373833.6																			0				breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14						c.e7+1		regulator of chromosome condensation 1							56.0	55.0	55.0					1																	28858861		2203	4300	6503	SO:0001630	splice_region_variant	1104				cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity	g.chr1:28858861G>A	X12654	CCDS323.1, CCDS41295.1	1p35.3	2008-08-18	2005-05-09	2005-05-09	ENSG00000180198	ENSG00000180198			1913	protein-coding gene	gene with protein product		179710	"""chromosome condensation 1"""	CHC1		7851910	Standard	NM_001048199		Approved		uc001bqf.2	P18754	OTTHUMG00000003645	ENST00000373833.6:c.441+1G>A	1.37:g.28858861G>A						RCC1_ENST00000429051.1_3'UTR|RCC1_ENST00000373831.3_Splice_Site_p.R178_splice|RCC1_ENST00000398958.2_Splice_Site_p.R147_splice|RCC1_ENST00000373832.1_Splice_Site_p.R147_splice	p.R147_splice			P18754	RCC1_HUMAN		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)	7	725	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)	147					Q16269|Q6NT97	Splice_Site	SNP	ENST00000373833.6	37	c.441_splice	CCDS323.1	.	.	.	.	.	.	.	.	.	.	G	34	5.372827	0.95923	.	.	ENSG00000180198	ENST00000398958;ENST00000427469;ENST00000434290;ENST00000373833;ENST00000419074;ENST00000373832;ENST00000373831;ENST00000411533;ENST00000430407	D;D;T;D;D;D;D;D;D	0.86097	-2.07;-2.07;-1.47;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07	4.65	4.65	0.58169	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.053759	0.64402	D	0.000001	D	0.93298	0.7864	M	0.92833	3.35	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.999	P;P;P	0.61658	0.874;0.892;0.892	D	0.94635	0.7825	10	0.62326	D	0.03	-9.1932	17.0343	0.86470	0.0:0.0:1.0:0.0	.	178;164;147	P18754-2;E9PAT9;P18754	.;.;RCC1_HUMAN	Q	147;147;155;147;147;147;178;164;147	ENSP00000381931:R147Q;ENSP00000402740:R147Q;ENSP00000405258:R155Q;ENSP00000362939:R147Q;ENSP00000402260:R147Q;ENSP00000362938:R147Q;ENSP00000362937:R178Q;ENSP00000413644:R164Q;ENSP00000394650:R147Q	ENSP00000362937:R178Q	R	+	2	0	RCC1	28731448	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.824000	0.99380	2.537000	0.85549	0.650000	0.86243	CGG		0.547	RCC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010323.3	NM_001269	Missense_Mutation	12	37	0	0	0	1	0	12	37				
CACNA1H	8912	broad.mit.edu	37	16	1250445	1250445	+	Silent	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr16:1250445C>T	ENST00000348261.5	+	7	1241	c.993C>T	c.(991-993)ggC>ggT	p.G331G	CACNA1H_ENST00000358590.4_Silent_p.G331G|CACNA1H_ENST00000565831.1_Silent_p.G331G	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	331					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	AGGGGGTGGGCGCTGCACGCA	0.662																																						ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(991-993)ggC>ggT		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)						31.0	36.0	34.0					16																	1250445		2095	4195	6290	SO:0001819	synonymous_variant	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1250445C>T	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.993C>T	16.37:g.1250445C>T						CACNA1H_ENST00000358590.4_Silent_p.G331G|CACNA1H_ENST00000565831.1_Silent_p.G331G	p.G331G	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN			7	1241	+		Hepatocellular(780;0.00369)	331					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Silent	SNP	ENST00000348261.5	37	c.993C>T	CCDS45375.1																																																																																				0.662	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		7	31	0	0	0	1	0	7	31				
GOLGB1	2804	broad.mit.edu	37	3	121411137	121411137	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr3:121411137C>G	ENST00000340645.5	-	14	7184	c.7059G>C	c.(7057-7059)aaG>aaC	p.K2353N	GOLGB1_ENST00000393667.3_Missense_Mutation_p.K2358N	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2353					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CATAACTGAACTTAGAATTTT	0.368																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(7072-7074)aaG>aaC		golgin B1							85.0	84.0	84.0					3																	121411137		2203	4300	6503	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121411137C>G	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.7059G>C	3.37:g.121411137C>G	ENSP00000341848:p.Lys2353Asn					GOLGB1_ENST00000340645.5_Missense_Mutation_p.K2353N	p.K2358N	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	14	7184	-			2353					B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.7074G>C	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.315015	0.23908	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.15718	2.4;2.4	6.03	2.98	0.34508	.	0.000000	0.64402	D	0.000002	T	0.32406	0.0828	L	0.60455	1.87	0.36306	D	0.857329	D;D;D	0.89917	1.0;0.999;0.985	D;D;P	0.85130	0.997;0.973;0.852	T	0.16276	-1.0408	10	0.35671	T	0.21	.	8.4409	0.32814	0.0:0.7162:0.0:0.2838	.	2358;2358;2353	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	N	2353;2358	ENSP00000341848:K2353N;ENSP00000377275:K2358N	ENSP00000341848:K2353N	K	-	3	2	GOLGB1	122893827	0.191000	0.23288	1.000000	0.80357	0.789000	0.44602	0.652000	0.24888	0.303000	0.22785	0.655000	0.94253	AAG		0.368	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		11	34	0	0	0	1	0	11	34				
RBBP5	5929	broad.mit.edu	37	1	205073025	205073025	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:205073025C>T	ENST00000264515.6	-	5	623	c.482G>A	c.(481-483)aGg>aAg	p.R161K	RBBP5_ENST00000484379.1_5'Flank|RBBP5_ENST00000367164.1_Missense_Mutation_p.R161K	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	161					cellular response to DNA damage stimulus (GO:0006974)|histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	methylated histone binding (GO:0035064)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TTCCCCTCGCCTATCAAAAGA	0.433																																						ENST00000264515.6																			0				cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27						c.(481-483)aGg>aAg		retinoblastoma binding protein 5							205.0	197.0	199.0					1																	205073025		2203	4300	6503	SO:0001583	missense	5929				histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding	g.chr1:205073025C>T	BC053856	CCDS30983.1, CCDS53463.1	1q32	2013-01-10	2001-11-28		ENSG00000117222	ENSG00000117222		"""WD repeat domain containing"""	9888	protein-coding gene	gene with protein product	"""SWD1, Set1c WD40 repeat protein, homolog (S. cerevisiae)"""	600697	"""retinoblastoma-binding protein 5"""			7558034	Standard	NM_005057		Approved	RBQ3, SWD1	uc001hbu.2	Q15291	OTTHUMG00000037104	ENST00000264515.6:c.482G>A	1.37:g.205073025C>T	ENSP00000264515:p.Arg161Lys					RBBP5_ENST00000367164.1_Missense_Mutation_p.R161K	p.R161K	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0923)		5	623	-	Breast(84;0.0505)		161					A8K272|Q7Z6D8|Q8NDZ7	Missense_Mutation	SNP	ENST00000264515.6	37	c.482G>A	CCDS30983.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.006547	0.74932	.	.	ENSG00000117222	ENST00000264515;ENST00000367164	T;T	0.22336	1.96;1.96	6.14	6.14	0.99180	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.37293	0.0998	L	0.49640	1.575	0.80722	D	1	D;B;B;B	0.54207	0.965;0.142;0.17;0.247	P;B;B;B	0.58391	0.838;0.053;0.104;0.144	T	0.00792	-1.1564	10	0.14656	T	0.56	.	20.4548	0.99139	0.0:1.0:0.0:0.0	.	34;196;161;161	B4DLF8;B4DMM7;Q15291-2;Q15291	.;.;.;RBBP5_HUMAN	K	161	ENSP00000264515:R161K;ENSP00000356132:R161K	ENSP00000264515:R161K	R	-	2	0	RBBP5	203339648	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.368000	0.79567	2.937000	0.99478	0.650000	0.86243	AGG		0.433	RBBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090077.1	NM_005057		25	93	0	0	0	1	0	25	93				
CDHR2	54825	broad.mit.edu	37	5	176018456	176018456	+	Silent	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr5:176018456C>A	ENST00000510636.1	+	30	3979	c.3705C>A	c.(3703-3705)ctC>ctA	p.L1235L	CDHR2_ENST00000261944.5_Silent_p.L1235L|CDHR2_ENST00000506348.1_Silent_p.L1235L	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1235					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TGGAGTACCTCTCTCCCTCCA	0.602																																						ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(3703-3705)ctC>ctA		cadherin-related family member 2							92.0	75.0	81.0					5																	176018456		2203	4300	6503	SO:0001819	synonymous_variant	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176018456C>A	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.3705C>A	5.37:g.176018456C>A						CDHR2_ENST00000261944.5_Silent_p.L1235L|CDHR2_ENST00000506348.1_Silent_p.L1235L	p.L1235L	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN			30	3979	+			1235					A1L3U4|A6NC80|Q9NXP8	Silent	SNP	ENST00000510636.1	37	c.3705C>A	CCDS34297.1																																																																																				0.602	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		18	62	1	0	6.94344e-10	1	7.71494e-10	18	62				
GYS1	2997	broad.mit.edu	37	19	49481247	49481247	+	Silent	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr19:49481247G>T	ENST00000323798.3	-	10	1438	c.1242C>A	c.(1240-1242)ccC>ccA	p.P414P	GYS1_ENST00000540532.1_3'UTR|GYS1_ENST00000541188.1_Silent_p.P334P|GYS1_ENST00000544287.1_Silent_p.P47P|GYS1_ENST00000263276.6_Silent_p.P350P	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	414					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		TGTTCATGTCGGGAAGGCTCC	0.542																																						ENST00000323798.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1240-1242)ccC>ccA		glycogen synthase 1 (muscle)							157.0	123.0	134.0					19																	49481247		2203	4300	6503	SO:0001819	synonymous_variant	2997				glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding	g.chr19:49481247G>T		CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.1242C>A	19.37:g.49481247G>T						GYS1_ENST00000540532.1_3'UTR|GYS1_ENST00000544287.1_Silent_p.P47P|GYS1_ENST00000263276.6_Silent_p.P350P|GYS1_ENST00000541188.1_Silent_p.P334P	p.P414P	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)	10	1438	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)	414					Q9BTT9	Silent	SNP	ENST00000323798.3	37	c.1242C>A	CCDS12747.1																																																																																				0.542	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1	NM_002103		21	51	1	0	1.00905e-13	1	1.15982e-13	21	51				
COL11A1	1301	broad.mit.edu	37	1	103483409	103483409	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:103483409G>A	ENST00000370096.3	-	11	1692	c.1380C>T	c.(1378-1380)ggC>ggT	p.G460G	COL11A1_ENST00000512756.1_Silent_p.G344G|COL11A1_ENST00000358392.2_Silent_p.G472G|COL11A1_ENST00000353414.4_Silent_p.G421G	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	460	Collagen-like 1.|Triple-helical region (interrupted).				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GTCCAGTGGGGCCTTGTAGAC	0.388																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(1414-1416)ggC>ggT		collagen, type XI, alpha 1							98.0	101.0	100.0					1																	103483409		2203	4300	6503	SO:0001819	synonymous_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103483409G>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1380C>T	1.37:g.103483409G>A						COL11A1_ENST00000353414.4_Silent_p.G421G|COL11A1_ENST00000370096.3_Silent_p.G460G|COL11A1_ENST00000512756.1_Silent_p.G344G	p.G472G	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	11	1733	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	460			Triple-helical region (interrupted).		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	ENST00000370096.3	37	c.1416C>T	CCDS778.1																																																																																				0.388	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		31	59	0	0	0	1	0	31	59				
SOGA3	387104	broad.mit.edu	37	6	127797497	127797497	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr6:127797497C>G	ENST00000525778.1	-	6	2419	c.1674G>C	c.(1672-1674)caG>caC	p.Q558H	SOGA3_ENST00000368268.2_Missense_Mutation_p.Q558H|SOGA3_ENST00000556132.1_Missense_Mutation_p.Q558H|SOGA3_ENST00000465909.2_Missense_Mutation_p.Q558H|SOGA3_ENST00000474293.2_5'Flank|SOGA3_ENST00000481848.2_Missense_Mutation_p.Q558H			Q5TF21	SOGA3_HUMAN	SOGA family member 3	558					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											ATCTGTACTTCTGGAGCTCGT	0.493																																						ENST00000556132.1																			0											c.(1672-1674)caG>caC		SOGA family member 3							88.0	87.0	87.0					6																	127797497		1890	4122	6012	SO:0001583	missense	387104					integral to membrane		g.chr6:127797497C>G	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.1674G>C	6.37:g.127797497C>G	ENSP00000434570:p.Gln558His					SOGA3_ENST00000368268.2_Missense_Mutation_p.Q558H|SOGA3_ENST00000465909.2_Missense_Mutation_p.Q558H|SOGA3_ENST00000525778.1_Missense_Mutation_p.Q558H|SOGA3_ENST00000481848.2_Missense_Mutation_p.Q558H	p.Q558H	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN			6	2538	-			558						Missense_Mutation	SNP	ENST00000525778.1	37	c.1674G>C	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.747184	0.49257	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	5.52	3.72	0.42706	.	0.000000	0.85682	D	0.000000	T	0.38401	0.1039	L	0.51422	1.61	0.51482	D	0.999926	D	0.76494	0.999	D	0.77557	0.99	T	0.26224	-1.0109	10	0.51188	T	0.08	-21.5043	8.9282	0.35655	0.0:0.6994:0.0:0.3006	.	558	Q5TF21	CF174_HUMAN	H	558	ENSP00000451768:Q558H;ENSP00000357251:Q558H;ENSP00000434570:Q558H;ENSP00000435559:Q558H	ENSP00000435559:Q558H	Q	-	3	2	C6orf174	127839190	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.492000	0.35594	1.336000	0.45506	0.561000	0.74099	CAG		0.493	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		15	65	0	0	0	1	0	15	65				
RPS6KA1	6195	broad.mit.edu	37	1	26881104	26881104	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:26881104G>C	ENST00000374168.2	+	9	785	c.631G>C	c.(631-633)Gag>Cag	p.E211Q	RPS6KA1_ENST00000374162.2_Missense_Mutation_p.E119Q|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.E220Q|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.E211Q|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.E119Q|MIR1976_ENST00000459548.1_RNA|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.E195Q	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	211	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		CCTGAGCAAAGAGGCCATTGA	0.602																																						ENST00000374168.2																			0				lung(1)	1						c.(631-633)Gag>Cag		ribosomal protein S6 kinase, 90kDa, polypeptide 1							146.0	144.0	145.0					1																	26881104		2203	4300	6503	SO:0001583	missense	6195				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:26881104G>C	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"""ribosomal protein S6 kinase, 90kD, polypeptide 1"""			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.631G>C	1.37:g.26881104G>C	ENSP00000363283:p.Glu211Gln					RPS6KA1_ENST00000526792.1_Missense_Mutation_p.E119Q|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.E211Q|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.E119Q|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.E195Q|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.E220Q	p.E211Q	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)	9	785	+		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	211			Protein kinase 1.		A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Missense_Mutation	SNP	ENST00000374168.2	37	c.631G>C	CCDS284.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.856163	0.91355	.	.	ENSG00000117676	ENST00000374168;ENST00000374166;ENST00000526792;ENST00000374162;ENST00000530003;ENST00000531382	T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	5.65	5.65	0.86999	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.65344	0.2682	N	0.11870	0.19	0.80722	D	1	D;B;D	0.67145	0.996;0.43;0.976	D;B;D	0.66716	0.946;0.122;0.921	T	0.71038	-0.4708	10	0.59425	D	0.04	.	18.6893	0.91577	0.0:0.0:1.0:0.0	.	195;220;211	B7Z2K7;Q15418-2;Q15418	.;.;KS6A1_HUMAN	Q	211;211;119;119;195;220	ENSP00000363283:E211Q;ENSP00000363281:E211Q;ENSP00000431651:E119Q;ENSP00000363277:E119Q;ENSP00000432281:E195Q;ENSP00000435412:E220Q	ENSP00000363277:E119Q	E	+	1	0	RPS6KA1	26753691	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.020000	0.88740	2.655000	0.90218	0.563000	0.77884	GAG		0.602	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	NM_002953		26	162	0	0	0	1	0	26	162				
SLC44A5	204962	broad.mit.edu	37	1	75679473	75679473	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:75679473G>T	ENST00000370855.5	-	22	1992	c.1879C>A	c.(1879-1881)Ctg>Atg	p.L627M	SLC44A5_ENST00000370859.3_Missense_Mutation_p.L627M|SLC44A5_ENST00000535611.1_Missense_Mutation_p.L497M	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	627					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AGGAAGGCCAGAACACCTACA	0.363																																						ENST00000370855.5																			0				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(1879-1881)Ctg>Atg		solute carrier family 44, member 5							83.0	80.0	81.0					1																	75679473		2203	4300	6503	SO:0001583	missense	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75679473G>T	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.1879C>A	1.37:g.75679473G>T	ENSP00000359892:p.Leu627Met					SLC44A5_ENST00000370859.3_Missense_Mutation_p.L627M|SLC44A5_ENST00000535611.1_Missense_Mutation_p.L497M	p.L627M	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN			22	1992	-			627					B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	37	c.1879C>A	CCDS667.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.766432	0.31228	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.26223	1.75;1.75;1.75	5.26	2.9	0.33743	.	0.063210	0.64402	D	0.000004	T	0.34774	0.0909	M	0.75447	2.3	0.58432	D	0.999998	D;D;D;D;D	0.76494	0.998;0.993;0.993;0.999;0.998	D;D;D;D;D	0.74348	0.983;0.959;0.967;0.981;0.965	T	0.14062	-1.0486	10	0.49607	T	0.09	-6.4031	10.3383	0.43862	0.1925:0.0:0.8075:0.0	.	621;666;627;627;666	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	M	627;666;627;497;620	ENSP00000359896:L627M;ENSP00000359892:L627M;ENSP00000443090:L497M	ENSP00000359892:L627M	L	-	1	2	SLC44A5	75452061	1.000000	0.71417	0.531000	0.27976	0.117000	0.20001	2.616000	0.46376	0.455000	0.26910	0.585000	0.79938	CTG		0.363	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697		14	46	1	0	1.5842e-08	1	1.71574e-08	14	46				
MIF4GD	57409	broad.mit.edu	37	17	73265430	73265430	+	Intron	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr17:73265430C>G	ENST00000325102.8	-	2	207				MIF4GD_ENST00000577542.1_Missense_Mutation_p.R68T|MIF4GD_ENST00000579119.1_Intron|RP11-649A18.12_ENST00000582668.1_RNA|MIF4GD_ENST00000245551.5_Missense_Mutation_p.R61T|MIF4GD_ENST00000580571.1_Intron|MIF4GD_ENST00000578305.1_Intron|MIF4GD_ENST00000579297.1_Missense_Mutation_p.R68T|RP11-649A18.12_ENST00000585075.1_RNA	NM_001242501.1	NP_001229430.1	A9UHW6	MI4GD_HUMAN	MIF4G domain containing						regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	10	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			AGACAAACCTCTGTACTGCGT	0.498																																						ENST00000577542.1																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	10						c.(202-204)aGa>aCa		MIF4G domain containing							126.0	113.0	117.0					17																	73265430		2203	4300	6503	SO:0001627	intron_variant	57409				regulation of translation|RNA metabolic process	cytoplasm|nucleus	protein C-terminus binding	g.chr17:73265430C>G	CR605810	CCDS11719.1, CCDS56044.1, CCDS58598.1	17q25.1	2005-12-15		2005-12-15					24030	protein-coding gene	gene with protein product		612072		MIFD			Standard	NM_001242498		Approved	AD023, MGC45027	uc002jnq.3	A9UHW6		ENST00000325102.8:c.82+764G>C	17.37:g.73265430C>G						MIF4GD_ENST00000245551.5_Missense_Mutation_p.R61T|MIF4GD_ENST00000579119.1_Intron|MIF4GD_ENST00000325102.8_Intron|MIF4GD_ENST00000580571.1_Intron|MIF4GD_ENST00000579297.1_Missense_Mutation_p.R68T|MIF4GD_ENST00000578305.1_Intron	p.R68T			A9UHW6	MI4GD_HUMAN	all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)		3	465	-	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		27			MIF4G.		B4DUM7|Q8N4Q5|Q9HBL5	Missense_Mutation	SNP	ENST00000325102.8	37	c.203G>C	CCDS56044.1	.	.	.	.	.	.	.	.	.	.	C	5.482	0.273923	0.10403	.	.	ENSG00000125457	ENST00000245551	.	.	.	2.52	-0.896	0.10557	.	.	.	.	.	T	0.14227	0.0344	N	0.08118	0	0.09310	N	1	B;B	0.24576	0.086;0.106	B;B	0.26202	0.04;0.067	T	0.29458	-1.0011	8	0.16896	T	0.51	.	2.3863	0.04366	0.2364:0.4714:0.0:0.2922	.	61;68	A9UHW6-2;B4DUM7	.;.	T	61	.	ENSP00000245551:R61T	R	-	2	0	MIF4GD	70777025	0.007000	0.16637	0.001000	0.08648	0.025000	0.11179	-0.007000	0.12810	-0.135000	0.11495	0.455000	0.32223	AGA		0.498	MIF4GD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446671.1	NM_020679		11	65	0	0	0	1	0	11	65				
MRPL42	28977	broad.mit.edu	37	12	93873187	93873187	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr12:93873187C>A	ENST00000549982.1	+	4	319	c.158C>A	c.(157-159)tCt>tAt	p.S53Y	MRPL42_ENST00000552217.1_Missense_Mutation_p.S53Y|MRPL42_ENST00000393128.4_Missense_Mutation_p.S53Y|MRPL42_ENST00000547098.1_Missense_Mutation_p.S53Y|MRPL42_ENST00000361630.2_Missense_Mutation_p.S53Y|MRPL42_ENST00000548545.1_Missense_Mutation_p.S53Y	NM_014050.3|NM_172177.3	NP_054769.1|NP_751917.1	Q9Y6G3	RM42_HUMAN	mitochondrial ribosomal protein L42	53					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.S53C(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)	7						GCTCTGACTTCTGATGGCAGG	0.323																																						ENST00000549982.1																			2	Substitution - Missense(2)	p.S53C(2)	endometrium(2)	breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)	7						c.(157-159)tCt>tAt		mitochondrial ribosomal protein L42							87.0	83.0	84.0					12																	93873187		2203	4300	6503	SO:0001583	missense	28977				translation	mitochondrial small ribosomal subunit	structural constituent of ribosome	g.chr12:93873187C>A	AB051626	CCDS9045.1	12q22	2014-02-12			ENSG00000198015	ENSG00000198015		"""Mitochondrial ribosomal proteins / large subunits"", ""Mitochondrial ribosomal proteins / small subunits"""	14493	protein-coding gene	gene with protein product	"""mitochondrial ribosomal protein S32"""	611847				11279123, 11042152	Standard	NM_014050		Approved	MRPS32, MRP-L31, RPML31, PTD007, HSPC204, MRPL31	uc001tcr.3	Q9Y6G3	OTTHUMG00000170157	ENST00000549982.1:c.158C>A	12.37:g.93873187C>A	ENSP00000449884:p.Ser53Tyr					MRPL42_ENST00000548545.1_Missense_Mutation_p.S53Y|MRPL42_ENST00000552217.1_Missense_Mutation_p.S53Y|MRPL42_ENST00000361630.2_Missense_Mutation_p.S53Y|MRPL42_ENST00000547098.1_Missense_Mutation_p.S53Y|MRPL42_ENST00000393128.4_Missense_Mutation_p.S53Y	p.S53Y	NM_014050.3|NM_172177.3	NP_054769.1|NP_751917.1	Q9Y6G3	RM42_HUMAN			4	319	+			53					Q6FID1|Q96Q48|Q9P0S1	Missense_Mutation	SNP	ENST00000549982.1	37	c.158C>A	CCDS9045.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.588471	0.66105	.	.	ENSG00000198015	ENST00000549982;ENST00000361630;ENST00000552217;ENST00000393128	.	.	.	5.32	5.32	0.75619	.	0.080058	0.52532	D	0.000072	T	0.68577	0.3016	M	0.74881	2.28	0.47441	D	0.99942	B;P	0.44241	0.438;0.829	B;B	0.43809	0.219;0.432	T	0.73461	-0.3975	9	0.56958	D	0.05	-13.0081	18.6203	0.91318	0.0:1.0:0.0:0.0	.	53;53	Q9Y6G3;A6NCI0	RM42_HUMAN;.	Y	53	.	ENSP00000355202:S53Y	S	+	2	0	MRPL42	92397318	1.000000	0.71417	0.983000	0.44433	0.903000	0.53119	6.718000	0.74713	2.490000	0.84030	0.585000	0.79938	TCT		0.323	MRPL42-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407715.1	NM_014050		8	14	1	0	1.58986e-06	1	1.67354e-06	8	14				
TPCN2	219931	broad.mit.edu	37	11	68822821	68822821	+	Splice_Site	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr11:68822821G>A	ENST00000294309.3	+	4	530		c.e4+1		TPCN2_ENST00000542467.1_Splice_Site|TPCN2_ENST00000442692.2_Splice_Site	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2						calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTCTGTGAAGGTGAGGCGGGC	0.672																																						ENST00000294309.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32						c.e4+1		two pore segment channel 2							30.0	32.0	31.0					11																	68822821		2197	4291	6488	SO:0001630	splice_region_variant	219931				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity	g.chr11:68822821G>A	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"""Voltage-gated ion channels / Two-pore channels"""	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.429+1G>A	11.37:g.68822821G>A						TPCN2_ENST00000442692.2_Splice_Site|TPCN2_ENST00000542467.1_Splice_Site		NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		4	530	+								Q9NT82	Splice_Site	SNP	ENST00000294309.3	37		CCDS8189.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.453816	0.43531	.	.	ENSG00000162341	ENST00000356782;ENST00000294309;ENST00000542467	.	.	.	4.96	4.02	0.46733	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3537	0.66722	0.0:0.0:0.8503:0.1497	.	.	.	.	.	-1	.	.	.	+	.	.	TPCN2	68579397	1.000000	0.71417	1.000000	0.80357	0.430000	0.31655	8.156000	0.89645	1.182000	0.42928	0.561000	0.74099	.		0.672	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075	Intron	22	24	0	0	0	1	0	22	24				
EXOC1	55763	broad.mit.edu	37	4	56762881	56762881	+	Splice_Site	SNP	A	A	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr4:56762881A>C	ENST00000381295.2	+	16	2301		c.e16-1		EXOC1_ENST00000349598.6_Splice_Site|EXOC1_ENST00000346134.7_Splice_Site	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1						cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					GCCTAACTTTAGAGTAACCAA	0.303																																						ENST00000381295.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35						c.e16-1		exocyst complex component 1							56.0	56.0	56.0					4																	56762881		2203	4300	6503	SO:0001630	splice_region_variant	55763				exocytosis|protein transport	exocyst	protein binding	g.chr4:56762881A>C	AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"""SEC3-like 1 (S. cerevisiae)"""	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.1954-1A>C	4.37:g.56762881A>C						EXOC1_ENST00000346134.7_Splice_Site|EXOC1_ENST00000349598.6_Splice_Site		NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN			16	2301	+	Glioma(25;0.08)|all_neural(26;0.101)							Q504V4|Q8WUE7|Q96T15|Q9NZE4	Splice_Site	SNP	ENST00000381295.2	37		CCDS3502.1	.	.	.	.	.	.	.	.	.	.	A	17.73	3.461871	0.63513	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6093	0.84858	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EXOC1	56457638	0.994000	0.37717	0.989000	0.46669	0.669000	0.39330	2.954000	0.49113	2.324000	0.78689	0.533000	0.62120	.		0.303	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261	Intron	9	19	0	0	0	1	0	9	19				
OPRM1	4988	broad.mit.edu	37	6	154360714	154360714	+	Missense_Mutation	SNP	A	A	G	rs199645285		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr6:154360714A>G	ENST00000330432.7	+	1	272	c.35A>G	c.(34-36)aAt>aGt	p.N12S	OPRM1_ENST00000428397.2_Missense_Mutation_p.N12S|OPRM1_ENST00000229768.5_Missense_Mutation_p.N12S|OPRM1_ENST00000360422.4_Missense_Mutation_p.N12S|OPRM1_ENST00000524163.1_Missense_Mutation_p.N12S|OPRM1_ENST00000518759.1_Intron|OPRM1_ENST00000337049.4_Missense_Mutation_p.N12S|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000434900.2_Missense_Mutation_p.N105S|OPRM1_ENST00000419506.2_Missense_Mutation_p.N12S|OPRM1_ENST00000523520.1_3'UTR|OPRM1_ENST00000435918.2_Missense_Mutation_p.N12S|OPRM1_ENST00000414028.2_Missense_Mutation_p.N12S|OPRM1_ENST00000452687.2_Missense_Mutation_p.N12S	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	12					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	AACGCCAGCAATTGCACTGAT	0.632																																						ENST00000414028.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(34-36)aAt>aGt		opioid receptor, mu 1	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)						34.0	41.0	39.0					6																	154360714		2051	4195	6246	SO:0001583	missense	4988				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	g.chr6:154360714A>G	L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"""GPCR / Class A : Opioid receptors"""	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.35A>G	6.37:g.154360714A>G	ENSP00000328264:p.Asn12Ser					OPRM1_ENST00000419506.2_Missense_Mutation_p.N12S|OPRM1_ENST00000518759.1_Intron|OPRM1_ENST00000360422.4_Missense_Mutation_p.N12S|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000337049.4_Missense_Mutation_p.N12S|OPRM1_ENST00000434900.2_Missense_Mutation_p.N105S|OPRM1_ENST00000524163.1_Missense_Mutation_p.N12S|OPRM1_ENST00000523520.1_3'UTR|OPRM1_ENST00000428397.2_Missense_Mutation_p.N12S|OPRM1_ENST00000330432.7_Missense_Mutation_p.N12S|OPRM1_ENST00000435918.2_Missense_Mutation_p.N12S|OPRM1_ENST00000229768.5_Missense_Mutation_p.N12S|OPRM1_ENST00000452687.2_Missense_Mutation_p.N12S	p.N12S	NM_001145284.2	NP_001138756.1	P35372	OPRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	1	85	+		Ovarian(120;0.196)	12					B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Missense_Mutation	SNP	ENST00000330432.7	37	c.35A>G	CCDS55070.1	.	.	.	.	.	.	.	.	.	.	A	8.887	0.953160	0.18431	.	.	ENSG00000112038	ENST00000520282;ENST00000434900;ENST00000330432;ENST00000360422;ENST00000428397;ENST00000452687;ENST00000229768;ENST00000419506;ENST00000524163;ENST00000414028;ENST00000435918;ENST00000337049	T;T;T;T;T;T;T;T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41;2.41;2.41;2.41;2.41;2.41;2.41;2.41	5.85	4.72	0.59763	.	2.167110	0.01869	N	0.037066	T	0.03695	0.0105	N	0.08118	0	0.21105	N	0.999785	B;B;B;B;B;B;B;B;B;B;B	0.17852	0.024;0.001;0.001;0.002;0.021;0.024;0.001;0.0;0.024;0.001;0.0	B;B;B;B;B;B;B;B;B;B;B	0.20577	0.018;0.001;0.004;0.002;0.008;0.03;0.002;0.0;0.018;0.003;0.001	T	0.33624	-0.9861	10	0.54805	T	0.06	.	5.2376	0.15454	0.7038:0.1832:0.113:0.0	.	12;12;12;12;105;12;12;12;12;12;12	P35372-4;P35372-8;P35372-11;P35372-9;P35372-10;P35372-6;P35372-5;P35372;P35372-7;P35372-3;P35372-2	.;.;.;.;.;.;.;OPRM_HUMAN;.;.;.	S	60;105;12;12;12;12;12;12;12;12;12;12	ENSP00000430247:N60S;ENSP00000394624:N105S;ENSP00000328264:N12S;ENSP00000353598:N12S;ENSP00000411903:N12S;ENSP00000410497:N12S;ENSP00000229768:N12S;ENSP00000403549:N12S;ENSP00000430097:N12S;ENSP00000399359:N12S;ENSP00000413752:N12S;ENSP00000338381:N12S	ENSP00000229768:N12S	N	+	2	0	OPRM1	154402407	0.011000	0.17503	0.993000	0.49108	0.133000	0.20885	1.445000	0.35079	2.238000	0.73509	0.528000	0.53228	AAT		0.632	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042786.2	NM_000914		6	26	0	0	0	1	0	6	26				
UMPS	7372	broad.mit.edu	37	3	124454085	124454085	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr3:124454085A>G	ENST00000232607.2	+	2	408	c.302A>G	c.(301-303)aAg>aGg	p.K101R	UMPS_ENST00000413078.2_Intron|UMPS_ENST00000538242.1_Intron|UMPS_ENST00000536109.1_Missense_Mutation_p.K9R|MIR544B_ENST00000582372.1_RNA	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	101	OPRTase.				'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|cellular response to drug (GO:0035690)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|small molecule metabolic process (GO:0044281)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	orotate phosphoribosyltransferase activity (GO:0004588)|orotidine-5'-phosphate decarboxylase activity (GO:0004590)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)	Fluorouracil(DB00544)	AAAGAAACAAAGGATTATGGT	0.338																																						ENST00000232607.2																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16						c.(301-303)aAg>aGg		uridine monophosphate synthetase							62.0	55.0	58.0					3																	124454085		2203	4300	6503	SO:0001583	missense	7372				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity	g.chr3:124454085A>G		CCDS3029.1	3q13	2008-02-04	2008-02-04		ENSG00000114491	ENSG00000114491	2.4.2.10, 4.1.1.23		12563	protein-coding gene	gene with protein product	"""orotate phosphoribosyl transferase and orotidine-5'-decarboxylase"""	613891				2767686	Standard	NM_000373		Approved		uc003ehl.4	P11172	OTTHUMG00000159431	ENST00000232607.2:c.302A>G	3.37:g.124454085A>G	ENSP00000232607:p.Lys101Arg					UMPS_ENST00000413078.2_Intron|UMPS_ENST00000538242.1_Intron|UMPS_ENST00000536109.1_Missense_Mutation_p.K9R	p.K101R	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN		GBM - Glioblastoma multiforme(114;0.146)	2	408	+			101			OPRTase.		B5LY68|B5LY72|O00758|O00759|O00760|Q16862|Q9H3Q2|Q9UG49	Missense_Mutation	SNP	ENST00000232607.2	37	c.302A>G	CCDS3029.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.631068	0.87660	.	.	ENSG00000114491	ENST00000232607;ENST00000536109	T;T	0.75704	-0.96;-0.96	5.22	5.22	0.72569	Phosphoribosyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.89784	0.6815	H	0.94306	3.52	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92624	0.6110	10	0.87932	D	0	-13.6589	15.253	0.73561	1.0:0.0:0.0:0.0	.	101	P11172	UMPS_HUMAN	R	101;9	ENSP00000232607:K101R;ENSP00000443577:K9R	ENSP00000232607:K101R	K	+	2	0	UMPS	125936775	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	8.174000	0.89682	2.178000	0.69098	0.533000	0.62120	AAG		0.338	UMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355271.1	NM_000373		4	12	0	0	0	1	0	4	12				
CNTLN	54875	broad.mit.edu	37	9	17366690	17366690	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr9:17366690T>A	ENST00000380647.3	+	13	2046	c.1962T>A	c.(1960-1962)aaT>aaA	p.N654K	CNTLN_ENST00000262360.5_Missense_Mutation_p.N654K|CNTLN_ENST00000425824.1_Missense_Mutation_p.N654K			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	654					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AAGAATTGAATAGATGTGTGG	0.269																																						ENST00000380647.3																			0				breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(1960-1962)aaT>aaA		centlein, centrosomal protein							79.0	80.0	79.0					9																	17366690		1796	4032	5828	SO:0001583	missense	54875					centriole|membrane	two-component sensor activity	g.chr9:17366690T>A	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.1962T>A	9.37:g.17366690T>A	ENSP00000370021:p.Asn654Lys					CNTLN_ENST00000425824.1_Missense_Mutation_p.N654K|CNTLN_ENST00000262360.5_Missense_Mutation_p.N654K	p.N654K			Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	13	2046	+			654					A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	ENST00000380647.3	37	c.1962T>A	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	T	16.09	3.024088	0.54683	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.17691	2.26;2.26;2.52	5.25	-1.66	0.08265	.	.	.	.	.	T	0.28134	0.0694	M	0.69823	2.125	0.21915	N	0.999476	D;P;P	0.76494	0.999;0.872;0.872	D;P;P	0.68353	0.957;0.578;0.578	T	0.32508	-0.9904	9	0.09084	T	0.74	.	5.51	0.16876	0.1187:0.2867:0.0:0.5946	.	654;654;654	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	K	654	ENSP00000370021:N654K;ENSP00000392798:N654K;ENSP00000262360:N654K	ENSP00000262360:N654K	N	+	3	2	CNTLN	17356690	0.365000	0.25006	0.652000	0.29579	0.948000	0.59901	0.159000	0.16442	-0.211000	0.10124	0.533000	0.62120	AAT		0.269	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		5	22	0	0	0	1	0	5	22				
WBSCR28	135886	broad.mit.edu	37	7	73275545	73275545	+	Silent	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr7:73275545C>G	ENST00000320531.2	+	1	57	c.21C>G	c.(19-21)gtC>gtG	p.V7V		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	7						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				TTCCTCCAGTCAGATCCAGCC	0.617																																						ENST00000320531.2																			0				breast(2)|kidney(2)|lung(6)|skin(1)	11						c.(19-21)gtC>gtG		Williams-Beuren syndrome chromosome region 28							54.0	53.0	53.0					7																	73275545		1917	4131	6048	SO:0001819	synonymous_variant	135886					integral to membrane		g.chr7:73275545C>G	BC030643	CCDS43597.1	7q11.23	2006-07-04			ENSG00000175877	ENSG00000175877			23018	protein-coding gene	gene with protein product		612547				8812460	Standard	NM_182504		Approved	MGC26719	uc003tzk.2	Q6UE05	OTTHUMG00000157243	ENST00000320531.2:c.21C>G	7.37:g.73275545C>G							p.V7V	NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN			1	57	+		Lung NSC(55;0.159)	7					Q6UE04|Q8NHP4	Silent	SNP	ENST00000320531.2	37	c.21C>G	CCDS43597.1																																																																																				0.617	WBSCR28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348130.1	NM_182504		16	49	0	0	0	1	0	16	49				
AFF2	2334	broad.mit.edu	37	X	148048585	148048585	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chrX:148048585G>T	ENST00000370460.2	+	14	3658	c.3179G>T	c.(3178-3180)aGa>aTa	p.R1060I	AFF2_ENST00000286437.5_Missense_Mutation_p.R701I|AFF2_ENST00000342251.3_Missense_Mutation_p.R1027I|AFF2_ENST00000370457.5_Missense_Mutation_p.R1025I	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1060					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AATGTCCGGAGACCCAAGCTC	0.522																																						ENST00000370460.2																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(3178-3180)aGa>aTa		AF4/FMR2 family, member 2							205.0	170.0	182.0					X																	148048585		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148048585G>T	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.3179G>T	X.37:g.148048585G>T	ENSP00000359489:p.Arg1060Ile					AFF2_ENST00000370457.5_Missense_Mutation_p.R1025I|AFF2_ENST00000342251.3_Missense_Mutation_p.R1027I|AFF2_ENST00000286437.5_Missense_Mutation_p.R701I	p.R1060I	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			14	3658	+	Acute lymphoblastic leukemia(192;6.56e-05)		1060					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.3179G>T	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.017102	0.93404	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55	5.57	5.57	0.84162	.	0.216563	0.39544	N	0.001329	D	0.85852	0.5793	M	0.83118	2.625	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.997;0.997;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.998;0.996;0.994;0.999;0.999;0.999	D	0.87894	0.2686	10	0.87932	D	0	.	18.1304	0.89599	0.0:0.0:1.0:0.0	.	701;1025;1025;1021;1050;1060	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	I	1060;1025;1027;701	ENSP00000359489:R1060I;ENSP00000359486:R1025I;ENSP00000345459:R1027I;ENSP00000286437:R701I	ENSP00000286437:R701I	R	+	2	0	AFF2	147856279	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.596000	0.90844	2.325000	0.78763	0.513000	0.50165	AGA		0.522	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		35	228	1	0	3.62531e-18	1	4.21547e-18	35	228				
MTMR14	64419	broad.mit.edu	37	3	9712819	9712819	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr3:9712819G>A	ENST00000296003.4	+	6	764	c.642G>A	c.(640-642)ctG>ctA	p.L214L	MTMR14_ENST00000351233.5_Silent_p.L214L|MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000353332.5_Silent_p.L214L	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	214					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					TCTGTGACCTGATGGTGGAGA	0.458																																						ENST00000296003.4																			0				breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21						c.(640-642)ctG>ctA		myotubularin related protein 14							114.0	111.0	112.0					3																	9712819		2023	4189	6212	SO:0001819	synonymous_variant	64419					perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chr3:9712819G>A	BC001674	CCDS43043.1, CCDS43044.1, CCDS43045.1	3p26	2011-06-09	2006-12-18	2006-12-18	ENSG00000163719	ENSG00000163719		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	26190	protein-coding gene	gene with protein product	"""egg-derived tyrosine phosphatase homolog (Drosophila)"""	611089	"""chromosome 3 open reading frame 29"""	C3orf29		15186772	Standard	NM_022485		Approved	FLJ22405, FLJ90311, hJumpy, hEDTP	uc003brz.3	Q8NCE2	OTTHUMG00000155111	ENST00000296003.4:c.642G>A	3.37:g.9712819G>A						MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000353332.5_Silent_p.L214L|MTMR14_ENST00000351233.5_Silent_p.L214L	p.L214L	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN			6	764	+	Medulloblastoma(99;0.227)		214					Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	Silent	SNP	ENST00000296003.4	37	c.642G>A	CCDS43043.1																																																																																				0.458	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338435.1	NM_022485		12	32	0	0	0	1	0	12	32				
AHR	196	broad.mit.edu	37	7	17379208	17379208	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr7:17379208G>C	ENST00000242057.4	+	10	2402	c.1759G>C	c.(1759-1761)Gat>Cat	p.D587H		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	587					apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	GTATGTCCAAGATTCTTTAAG	0.393																																						ENST00000242057.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33						c.(1759-1761)Gat>Cat		aryl hydrocarbon receptor							104.0	99.0	101.0					7																	17379208		2203	4300	6503	SO:0001583	missense	196				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr7:17379208G>C	L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"""Basic helix-loop-helix proteins"""	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.1759G>C	7.37:g.17379208G>C	ENSP00000242057:p.Asp587His						p.D587H	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN			10	2402	+	Lung NSC(10;0.0392)|all_lung(11;0.0754)		587					A4D130|Q13728|Q13803|Q13804	Missense_Mutation	SNP	ENST00000242057.4	37	c.1759G>C	CCDS5366.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.800847	0.31869	.	.	ENSG00000106546	ENST00000242057	T	0.25749	1.78	6.16	5.11	0.69529	.	0.419196	0.27659	N	0.018384	T	0.35307	0.0927	M	0.78637	2.42	0.39217	D	0.963434	P	0.35124	0.485	B	0.35859	0.212	T	0.39840	-0.9594	10	0.87932	D	0	.	16.4524	0.83996	0.072:0.0:0.928:0.0	.	587	P35869	AHR_HUMAN	H	587	ENSP00000242057:D587H	ENSP00000242057:D587H	D	+	1	0	AHR	17345733	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	4.308000	0.59129	2.937000	0.99478	0.650000	0.86243	GAT		0.393	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2	NM_001621		18	71	0	0	0	1	0	18	71				
PCDHGB3	56102	broad.mit.edu	37	5	140751494	140751494	+	Silent	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr5:140751494C>T	ENST00000576222.1	+	1	1664	c.1533C>T	c.(1531-1533)agC>agT	p.S511S	PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA4_ENST00000571252.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	511	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCGGAGCGGGGTGGTGT	0.667																																						ENST00000576222.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(1531-1533)agC>agT									48.0	52.0	50.0					5																	140751494		2080	4229	6309	SO:0001819	synonymous_variant	56102							g.chr5:140751494C>T	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1533C>T	5.37:g.140751494C>T						PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron	p.S511S	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1664	+								A7E229|Q9Y5C7	Silent	SNP	ENST00000576222.1	37	c.1533C>T	CCDS58980.1																																																																																				0.667	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		13	72	0	0	0	1	0	13	72				
GDF10	2662	broad.mit.edu	37	10	48428702	48428702	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr10:48428702A>G	ENST00000224605.2	-	2	1449	c.1184T>C	c.(1183-1185)aTc>aCc	p.I395T		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	395					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						TTTCGGTGAGATTATCCATTC	0.532																																						ENST00000224605.2																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						c.(1183-1185)aTc>aCc		growth differentiation factor 10							90.0	86.0	87.0					10																	48428702		2203	4300	6503	SO:0001583	missense	2662				growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr10:48428702A>G	L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"""Endogenous ligands"""	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.1184T>C	10.37:g.48428702A>G	ENSP00000224605:p.Ile395Thr						p.I395T	NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN			2	1449	-			395					Q5VSQ8|Q9UCX6	Missense_Mutation	SNP	ENST00000224605.2	37	c.1184T>C	CCDS7220.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.445205	0.83993	.	.	ENSG00000107623	ENST00000374247;ENST00000224605	T	0.66638	-0.22	5.43	5.43	0.79202	Transforming growth factor beta, conserved site (1);Transforming growth factor-beta, C-terminal (3);	0.220255	0.47093	D	0.000243	T	0.80999	0.4732	M	0.90542	3.125	0.58432	D	0.999998	P;P	0.47677	0.874;0.899	P;P	0.52856	0.458;0.711	D	0.85374	0.1115	10	0.87932	D	0	.	14.9572	0.71124	1.0:0.0:0.0:0.0	.	205;395	Q8N6T2;P55107	.;BMP3B_HUMAN	T	205;395	ENSP00000224605:I395T	ENSP00000224605:I395T	I	-	2	0	GDF10	48048708	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	9.181000	0.94874	2.198000	0.70561	0.533000	0.62120	ATC		0.532	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047884.1	NM_004962		11	46	0	0	0	1	0	11	46				
CD81-AS1	101927682	broad.mit.edu	37	11	2356559	2356559	+	RNA	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr11:2356559C>G	ENST00000413483.1	-	0	407				RPL26P30_ENST00000602923.1_RNA																							TGCATTTTCTCAATAAGTTCT	0.393																																						ENST00000413483.1																			0																				38.0	36.0	37.0					11																	2356559		2192	4278	6470			101927682							g.chr11:2356559C>G																													11.37:g.2356559C>G						RPL26P30_ENST00000602923.1_RNA								0	407	-									RNA	SNP	ENST00000413483.1	37																																																																																						0.393	AC129929.5-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000143277.1			6	12	0	0	0	1	0	6	12				
MUC16	94025	broad.mit.edu	37	19	8959696	8959696	+	Missense_Mutation	SNP	C	C	T	rs61748893	byFrequency	TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr19:8959696C>T	ENST00000397910.4	-	84	43639	c.43436G>A	c.(43435-43437)cGc>cAc	p.R14479H	MUC16_ENST00000380951.5_Missense_Mutation_p.R1120H	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	22124	SEA 16. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	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						CTTCCGCCGGCGGGTGGTCAC	0.577													C|||	2	0.000399361	0.0015	0.0	5008	,	,		16795	0.0		0.0	False		,,,				2504	0.0					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.(43435-43437)cGc>cAc		mucin 16, cell surface associated		T	HIS/ARG	2,3970		0,2,1984	71.0	73.0	73.0		43436	-1.1	0.0	19	dbSNP_129	73	0,8362		0,0,4181	no	missense	MUC16	NM_024690.2	29	0,2,6165	TT,TC,CC		0.0,0.0504,0.0162	benign	14479/14508	8959696	2,12332	1986	4181	6167	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8959696C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.43436G>A	19.37:g.8959696C>T	ENSP00000381008:p.Arg14479His					MUC16_ENST00000380951.5_Missense_Mutation_p.R1120H	p.R14479H	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			84	43639	-			22124	Missing (in Ref. 3; AAK74120).		SEA 16.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.43436G>A	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	12.06|12.06	1.825262|1.825262	0.32237|0.32237	5.04E-4|5.04E-4	0.0|0.0	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000380951	.|T	.|0.01918	.|4.56	3.47|3.47	-1.14|-1.14	0.09741|0.09741	.|.	.|.	.|.	.|.	.|.	T|T	0.00815|0.00815	0.0027|0.0027	N|N	0.00926|0.00926	-1.1|-1.1	.|.	.|.	.|.	.|B;B	.|0.13145	.|0.001;0.007	.|B;B	.|0.04013	.|0.0;0.001	T|T	0.45789|0.45789	-0.9237|-0.9237	4|8	.|0.33141	.|T	.|0.24	.|.	3.7005|3.7005	0.08380|0.08380	0.0:0.4839:0.1864:0.3297|0.0:0.4839:0.1864:0.3297	.|.	.|22124;14479	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	T|H	1302|14479;1120	.|ENSP00000381008:R14479H	.|ENSP00000370338:R1120H	A|R	-|-	1|2	0|0	MUC16|MUC16	8820696|8820696	0.002000|0.002000	0.14202|0.14202	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.285000|0.285000	0.18883|0.18883	-0.085000|-0.085000	0.12573|0.12573	-1.382000|-1.382000	0.01172|0.01172	GCC|CGC		0.577	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		6	10	0	0	0	1	0	6	10				
ITGAD	3681	broad.mit.edu	37	16	31422660	31422660	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr16:31422660G>A	ENST00000389202.2	+	14	1578	c.1529G>A	c.(1528-1530)cGt>cAt	p.R510H		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	510					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCTGTTCTCCGTGGTGAGCAG	0.637																																						ENST00000389202.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(1528-1530)cGt>cAt		integrin, alpha D							117.0	115.0	116.0					16																	31422660		2197	4300	6497	SO:0001583	missense	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31422660G>A	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.1529G>A	16.37:g.31422660G>A	ENSP00000373854:p.Arg510His						p.R510H	NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN			14	1578	+			510					Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	c.1529G>A	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.487722	0.01018	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.12039	2.72	4.34	0.29	0.15728	.	.	.	.	.	T	0.07999	0.0200	L	0.35414	1.06	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.09377	0.004;0.004	T	0.45205	-0.9277	9	0.07175	T	0.84	.	6.3289	0.21259	0.4977:0.0:0.5023:0.0	.	526;510	Q59H14;Q13349	.;ITAD_HUMAN	H	526;510	ENSP00000373854:R510H	ENSP00000373854:R510H	R	+	2	0	ITGAD	31330161	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.384000	0.07389	-0.259000	0.09432	-0.501000	0.04562	CGT		0.637	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		45	144	0	0	0	1	0	45	144				
CHRDL1	91851	broad.mit.edu	37	X	109919583	109919583	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chrX:109919583C>T	ENST00000372045.1	-	12	1360	c.1229G>A	c.(1228-1230)tGg>tAg	p.W410*	CHRDL1_ENST00000434224.1_Nonsense_Mutation_p.W337*|CHRDL1_ENST00000444321.2_Nonsense_Mutation_p.W417*|CHRDL1_ENST00000372042.1_Nonsense_Mutation_p.W418*|CHRDL1_ENST00000218054.4_Nonsense_Mutation_p.W416*|CHRDL1_ENST00000482160.1_Nonsense_Mutation_p.W338*|CHRDL1_ENST00000394797.4_Nonsense_Mutation_p.W416*			Q9BU40	CRDL1_HUMAN	chordin-like 1	410					BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|compound eye development (GO:0048749)|eye development (GO:0001654)|negative regulation of BMP signaling pathway (GO:0030514)|nervous system development (GO:0007399)|ossification (GO:0001503)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						GAAGATCTTCCACTGGCCTAA	0.458																																						ENST00000218054.4																			0				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						c.(1246-1248)tGg>tAg		chordin-like 1							97.0	78.0	84.0					X																	109919583		2203	4300	6503	SO:0001587	stop_gained	91851				BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region		g.chrX:109919583C>T	AL049176	CCDS14553.1, CCDS48148.1, CCDS48149.1, CCDS48150.1, CCDS48148.2	Xq23	2014-01-31			ENSG00000101938	ENSG00000101938			29861	protein-coding gene	gene with protein product		300350	"""megalocornea 1 (X-linked)"""	MGC1		11441185, 11118896, 22284829	Standard	NM_001143981		Approved	NRLN1, CHL	uc004eow.3	Q9BU40	OTTHUMG00000022199	ENST00000372045.1:c.1229G>A	X.37:g.109919583C>T	ENSP00000361115:p.Trp410*					CHRDL1_ENST00000372045.1_Nonsense_Mutation_p.W410*|CHRDL1_ENST00000482160.1_Nonsense_Mutation_p.W338*|CHRDL1_ENST00000372042.1_Nonsense_Mutation_p.W418*|CHRDL1_ENST00000434224.1_Nonsense_Mutation_p.W337*|CHRDL1_ENST00000394797.4_Nonsense_Mutation_p.W416*|CHRDL1_ENST00000444321.2_Nonsense_Mutation_p.W417*	p.W416*	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN			12	1443	-			410					B1AKD0|B4DMP3|D3DUY6|E9PGS5|Q539E4|Q9Y3H7	Nonsense_Mutation	SNP	ENST00000372045.1	37	c.1247G>A		.	.	.	.	.	.	.	.	.	.	C	34	5.400860	0.96030	.	.	ENSG00000101938	ENST00000372045;ENST00000434224;ENST00000218054;ENST00000394797;ENST00000372042;ENST00000482160;ENST00000444321	.	.	.	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.8377	17.7162	0.88337	0.0:1.0:0.0:0.0	.	.	.	.	X	410;337;416;416;418;338;417	.	.	W	-	2	0	CHRDL1	109806239	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.404000	0.66344	2.311000	0.77944	0.600000	0.82982	TGG		0.458	CHRDL1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057912.1	NM_145234		8	45	0	0	0	1	0	8	45				
SBK1	388228	broad.mit.edu	37	16	28328856	28328856	+	Silent	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr16:28328856C>T	ENST00000341901.4	+	2	933	c.144C>T	c.(142-144)gaC>gaT	p.D48D		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	48						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(3)|ovary(1)	5						CCGCCAGCGACGTCACCAAGC	0.637											OREG0023701	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000341901.4																			0				kidney(1)|lung(3)|ovary(1)	5						c.(142-144)gaC>gaT		SH3 domain binding kinase 1							75.0	67.0	69.0					16																	28328856		2197	4300	6497	SO:0001819	synonymous_variant	388228					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr16:28328856C>T		CCDS32416.1	16p11.2	2013-09-27	2013-09-27			ENSG00000188322			17699	protein-coding gene	gene with protein product			"""SH3-binding domain kinase 1"""				Standard	XM_005255315		Approved	Sbk	uc002dpd.3	Q52WX2		ENST00000341901.4:c.144C>T	16.37:g.28328856C>T			OREG0023701	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	801		p.D48D	NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN			2	933	+			48						Silent	SNP	ENST00000341901.4	37	c.144C>T	CCDS32416.1																																																																																				0.637	SBK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387677.1	XM_370948		19	49	0	0	0	1	0	19	49				
KMT2D	8085	broad.mit.edu	37	12	49416416	49416416	+	Missense_Mutation	SNP	C	C	T	rs398123734		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr12:49416416C>T	ENST00000301067.7	-	51	16294	c.16295G>A	c.(16294-16296)cGg>cAg	p.R5432Q		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5432	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R5162Q(1)									CACCTCGTTCCGAATGATGGT	0.552																																						ENST00000301067.7																			1	Substitution - Missense(1)	p.R5162Q(1)	central_nervous_system(1)								c.(16294-16296)cGg>cAg		lysine (K)-specific methyltransferase 2D							187.0	192.0	190.0					12																	49416416		2021	4163	6184	SO:0001583	missense	8085							g.chr12:49416416C>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.16295G>A	12.37:g.49416416C>T	ENSP00000301067:p.Arg5432Gln						p.R5432Q	NM_003482.3	NP_003473.3					51	16294	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.16295G>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.162941	0.57476	.	.	ENSG00000167548	ENST00000301067;ENST00000526209	D;D	0.81579	-1.51;-1.51	5.09	5.09	0.68999	SET domain (3);	0.000000	0.37304	N	0.002155	D	0.91050	0.7184	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92501	0.6008	10	0.87932	D	0	.	17.6392	0.88130	0.0:1.0:0.0:0.0	.	5432	O14686	MLL2_HUMAN	Q	5432;113	ENSP00000301067:R5432Q;ENSP00000435714:R113Q	ENSP00000301067:R5432Q	R	-	2	0	MLL2	47702683	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.734000	0.84928	2.546000	0.85860	0.591000	0.81541	CGG		0.552	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			52	151	0	0	0	1	0	52	151				
MYZAP	100820829	broad.mit.edu	37	15	57925925	57925925	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr15:57925925G>C	ENST00000267853.5	+	8	1013	c.919G>C	c.(919-921)Gag>Cag	p.E307Q	GCOM1_ENST00000587652.1_Missense_Mutation_p.E307Q|GCOM1_ENST00000380568.3_Missense_Mutation_p.E307Q|GCOM1_ENST00000380561.2_Missense_Mutation_p.E276Q|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380560.2_Missense_Mutation_p.E238Q|GCOM1_ENST00000572390.1_Missense_Mutation_p.E307Q|GCOM1_ENST00000574161.1_Missense_Mutation_p.E307Q|GCOM1_ENST00000396180.1_Missense_Mutation_p.E276Q|MYZAP_ENST00000380565.4_Missense_Mutation_p.E307Q|GCOM1_ENST00000380569.2_Missense_Mutation_p.E307Q			P0CAP1	MYZAP_HUMAN	myocardial zonula adherens protein	307					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|I band (GO:0031674)											CAGGCTGATTGAGCGCATGGA	0.502																																						ENST00000574161.1																			0				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						c.(919-921)Gag>Cag									119.0	110.0	113.0					15																	57925925		2192	4292	6484	SO:0001583	missense	145781				intracellular signal transduction	extrinsic to internal side of plasma membrane|I band		g.chr15:57925925G>C	FJ970029		15q21.3	2012-10-05			ENSG00000263155	ENSG00000263155			43444	protein-coding gene	gene with protein product	"""myocardium-enriched zonula adherens protein"""	614071				20093627, 21992629, 22160502	Standard	NM_001018100		Approved	MYOZAP, Gup, Gup1, GCOM1		P0CAP1	OTTHUMG00000132453	ENST00000267853.5:c.919G>C	15.37:g.57925925G>C	ENSP00000267853:p.Glu307Gln					MYZAP_ENST00000380565.4_Missense_Mutation_p.E307Q|GCOM1_ENST00000587652.1_Missense_Mutation_p.E307Q|GCOM1_ENST00000380560.2_Missense_Mutation_p.E238Q|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000396180.1_Missense_Mutation_p.E276Q|MYZAP_ENST00000267853.5_Missense_Mutation_p.E307Q|GCOM1_ENST00000380561.2_Missense_Mutation_p.E276Q|GCOM1_ENST00000380569.2_Missense_Mutation_p.E307Q|GCOM1_ENST00000380568.3_Missense_Mutation_p.E307Q|GCOM1_ENST00000572390.1_Missense_Mutation_p.E307Q	p.E307Q	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN			8	1038	+			307					D2E9U7|Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5	Missense_Mutation	SNP	ENST00000267853.5	37	c.919G>C	CCDS10162.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.291615	0.23564	.	.	ENSG00000137878	ENST00000380569;ENST00000380561;ENST00000396180;ENST00000380560;ENST00000267853;ENST00000380565;ENST00000380568;ENST00000461709	T;T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47	5.68	4.71	0.59529	.	0.432689	0.27147	N	0.020704	T	0.15652	0.0377	N	0.12182	0.205	0.80722	D	1	B;B;B;B	0.31949	0.348;0.006;0.348;0.118	B;B;B;B	0.35607	0.206;0.026;0.206;0.068	T	0.08126	-1.0737	10	0.07644	T	0.81	-23.3982	9.0096	0.36133	0.0:0.2606:0.5925:0.1469	.	307;307;307;307	P0CAP1-2;P0CAP1-11;P0CAP1-4;P0CAP1	.;.;.;GCOM1_HUMAN	Q	307;276;276;238;307;307;307;22	ENSP00000369943:E307Q;ENSP00000369935:E276Q;ENSP00000379483:E276Q;ENSP00000369933:E238Q;ENSP00000267853:E307Q;ENSP00000369939:E307Q;ENSP00000369942:E307Q;ENSP00000431396:E22Q	ENSP00000267853:E307Q	E	+	1	0	GCOM1	55713217	0.947000	0.32204	1.000000	0.80357	0.937000	0.57800	1.339000	0.33885	2.676000	0.91093	0.563000	0.77884	GAG		0.502	MYZAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255716.2	NM_001018100		9	60	0	0	0	1	0	9	60				
FKBP5	2289	broad.mit.edu	37	6	35544861	35544861	+	Silent	SNP	G	G	C	rs180682572		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr6:35544861G>C	ENST00000539068.1	-	10	1378	c.1176C>G	c.(1174-1176)tcC>tcG	p.S392S	FKBP5_ENST00000536438.1_Silent_p.S392S|FKBP5_ENST00000540787.1_Silent_p.S213S|FKBP5_ENST00000357266.4_Silent_p.S392S	NM_001145776.1	NP_001139248.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	392					chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	FK506 binding (GO:0005528)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						TCTGGCACATGGAGATCTGCA	0.517																																						ENST00000536438.1																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						c.(1174-1176)tcC>tcG		FK506 binding protein 5							228.0	169.0	189.0					6																	35544861		2203	4300	6503	SO:0001819	synonymous_variant	2289				protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity	g.chr6:35544861G>C	U42031	CCDS4808.1, CCDS54996.1	6p21.31	2013-01-10	2001-11-28		ENSG00000096060	ENSG00000096060		"""Tetratricopeptide (TTC) repeat domain containing"""	3721	protein-coding gene	gene with protein product		602623	"""FK506-binding protein 5"""			9001212	Standard	NM_004117		Approved	FKBP51, FKBP54, PPIase, P54, Ptg-10	uc003okx.2	Q13451	OTTHUMG00000014576	ENST00000539068.1:c.1176C>G	6.37:g.35544861G>C						FKBP5_ENST00000540787.1_Silent_p.S213S|FKBP5_ENST00000539068.1_Silent_p.S392S|FKBP5_ENST00000357266.4_Silent_p.S392S	p.S392S	NM_001145775.1	NP_001139247.1	Q13451	FKBP5_HUMAN			11	1491	-			392					F5H7R1|Q59EB8|Q5TGM6	Silent	SNP	ENST00000539068.1	37	c.1176C>G	CCDS4808.1																																																																																				0.517	FKBP5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040309.2			26	68	0	0	0	1	0	26	68				
UNC13C	440279	broad.mit.edu	37	15	54307998	54307998	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr15:54307998G>T	ENST00000260323.11	+	1	2898	c.2898G>T	c.(2896-2898)aaG>aaT	p.K966N	UNC13C_ENST00000537900.1_Missense_Mutation_p.K966N|UNC13C_ENST00000545554.1_Missense_Mutation_p.K966N	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	966					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CAAAGCCAAAGAGAATTCGTC	0.398																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(2896-2898)aaG>aaT		unc-13 homolog C (C. elegans)							61.0	59.0	60.0					15																	54307998		1851	4092	5943	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54307998G>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.2898G>T	15.37:g.54307998G>T	ENSP00000260323:p.Lys966Asn					UNC13C_ENST00000260323.11_Missense_Mutation_p.K966N|UNC13C_ENST00000537900.1_Missense_Mutation_p.K966N	p.K966N			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	2898	+			966					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.2898G>T	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.472233	0.26423	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.84370	-1.84;-1.65;-1.84	5.58	3.72	0.42706	.	.	.	.	.	D	0.84999	0.5597	L	0.29908	0.895	0.40212	D	0.977639	D	0.76494	0.999	D	0.80764	0.994	T	0.81961	-0.0693	9	0.36615	T	0.2	.	6.9234	0.24401	0.3497:0.0:0.6503:0.0	.	966	Q8NB66	UN13C_HUMAN	N	966	ENSP00000260323:K966N;ENSP00000438156:K966N;ENSP00000442569:K966N	ENSP00000260323:K966N	K	+	3	2	UNC13C	52095290	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	1.695000	0.37763	0.734000	0.32515	0.650000	0.86243	AAG		0.398	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		5	5	1	0	3.59834e-05	1	3.76133e-05	5	5				
CEP192	55125	broad.mit.edu	37	18	13055849	13055849	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr18:13055849T>A	ENST00000325971.8	+	17	3065	c.1472T>A	c.(1471-1473)aTg>aAg	p.M491K	CEP192_ENST00000506447.1_Missense_Mutation_p.M1087K|CEP192_ENST00000430049.2_Missense_Mutation_p.M612K			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	491					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GAACGGGCTATGGAAAAATTG	0.363																																						ENST00000506447.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(3259-3261)aTg>aAg		centrosomal protein 192kDa							56.0	56.0	56.0					18																	13055849		2203	4300	6503	SO:0001583	missense	55125							g.chr18:13055849T>A	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.1472T>A	18.37:g.13055849T>A	ENSP00000317156:p.Met491Lys					CEP192_ENST00000325971.8_Missense_Mutation_p.M491K|CEP192_ENST00000430049.2_Missense_Mutation_p.M612K	p.M1087K	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			19	3340	+			682					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.3260T>A		.	.	.	.	.	.	.	.	.	.	T	9.417	1.081907	0.20309	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.21031	2.03;2.03;2.03	4.17	0.272	0.15645	.	1.568460	0.03844	N	0.271229	T	0.13415	0.0325	L	0.36672	1.1	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.09377	0.001;0.004;0.002	T	0.18429	-1.0337	10	0.05959	T	0.93	0.9779	3.0346	0.06117	0.4213:0.2048:0.0:0.3739	.	612;1087;491	C9JT09;E9PF99;Q8TEP8	.;.;CE192_HUMAN	K	1087;491;491;612	ENSP00000427550:M1087K;ENSP00000317156:M491K;ENSP00000389190:M612K	ENSP00000317156:M491K	M	+	2	0	CEP192	13045849	0.000000	0.05858	0.053000	0.19242	0.131000	0.20780	-0.278000	0.08490	0.104000	0.17725	0.460000	0.39030	ATG		0.363	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		13	29	0	0	0	1	0	13	29				
RDH12	145226	broad.mit.edu	37	14	68191258	68191258	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr14:68191258G>A	ENST00000551171.1	+	4	461	c.137G>A	c.(136-138)gGc>gAc	p.G46D	RDH12_ENST00000267502.3_Missense_Mutation_p.G46D|RDH12_ENST00000539142.1_Missense_Mutation_p.G46D	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	46					photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	intracellular (GO:0005622)|photoreceptor inner segment membrane (GO:0060342)	retinol dehydrogenase activity (GO:0004745)			large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	GTGATCACTGGCGCCAACACG	0.542																																						ENST00000551171.1																			0				large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12						c.(136-138)gGc>gAc		retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	Vitamin A(DB00162)						256.0	209.0	225.0					14																	68191258		2203	4300	6503	SO:0001583	missense	145226				photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity	g.chr14:68191258G>A	AK054835	CCDS9787.1	14q24.1	2013-02-14	2006-05-09		ENSG00000139988	ENSG00000139988	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	19977	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 2"""	608830	"""retinol dehydrogenase 12 (all-trans and 9-cis)"""			12226107, 19027726	Standard	NM_152443		Approved	FLJ30273, SDR7C2, LCA13, RP53	uc001xjz.4	Q96NR8		ENST00000551171.1:c.137G>A	14.37:g.68191258G>A	ENSP00000449079:p.Gly46Asp					RDH12_ENST00000267502.3_Missense_Mutation_p.G46D|RDH12_ENST00000539142.1_Missense_Mutation_p.G46D	p.G46D	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN		all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	4	461	+			46					B2RDA2|Q8TAW6	Missense_Mutation	SNP	ENST00000551171.1	37	c.137G>A	CCDS9787.1	.	.	.	.	.	.	.	.	.	.	G	34	5.369136	0.95900	.	.	ENSG00000139988	ENST00000551171;ENST00000267502;ENST00000539142	D;D;D	0.99727	-6.55;-6.55;-6.55	5.32	5.32	0.75619	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99894	0.9949	H	0.99820	4.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96096	0.9065	10	0.87932	D	0	.	19.1982	0.93698	0.0:0.0:1.0:0.0	.	46	Q96NR8	RDH12_HUMAN	D	46	ENSP00000449079:G46D;ENSP00000267502:G46D;ENSP00000438715:G46D	ENSP00000267502:G46D	G	+	2	0	RDH12	67261011	1.000000	0.71417	0.970000	0.41538	0.982000	0.71751	9.171000	0.94802	2.773000	0.95371	0.655000	0.94253	GGC		0.542	RDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406918.1			18	59	0	0	0	1	0	18	59				
GPR61	83873	broad.mit.edu	37	1	110086737	110086737	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:110086737G>C	ENST00000527748.1	+	2	1776	c.1093G>C	c.(1093-1095)Gag>Cag	p.E365Q	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	365						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		GCCAGCTCCAGAGGAGGAGCT	0.567																																						ENST00000527748.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23						c.(1093-1095)Gag>Cag		G protein-coupled receptor 61							53.0	58.0	57.0					1																	110086737		2203	4300	6503	SO:0001583	missense	83873					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:110086737G>C	AF317652	CCDS801.1	1p13.3	2012-08-21			ENSG00000156097	ENSG00000156097		"""GPCR / Class A : Orphans"""	13300	protein-coding gene	gene with protein product		606916				11165367, 11690637	Standard	NM_031936		Approved	BALGR	uc001dxy.2	Q9BZJ8	OTTHUMG00000011633	ENST00000527748.1:c.1093G>C	1.37:g.110086737G>C	ENSP00000432456:p.Glu365Gln						p.E365Q	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)	2	1776	+		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	365					A8K1W2|Q6NWS0|Q8TDV4|Q96PR4	Missense_Mutation	SNP	ENST00000527748.1	37	c.1093G>C	CCDS801.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.874818	0.51695	.	.	ENSG00000156097	ENST00000527748;ENST00000286603	T	0.37584	1.19	5.2	5.2	0.72013	.	0.069159	0.64402	D	0.000016	T	0.15565	0.0375	N	0.14661	0.345	0.50171	D	0.999859	P	0.48230	0.907	B	0.41036	0.346	T	0.01988	-1.1234	10	0.35671	T	0.21	-8.8968	18.5373	0.91015	0.0:0.0:1.0:0.0	.	365	Q9BZJ8	GPR61_HUMAN	Q	365;493	ENSP00000432456:E365Q	ENSP00000286603:E493Q	E	+	1	0	GPR61	109888260	1.000000	0.71417	0.965000	0.40720	0.984000	0.73092	5.408000	0.66368	2.711000	0.92665	0.655000	0.94253	GAG		0.567	GPR61-005	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385575.1			28	32	0	0	0	1	0	28	32				
PCDH15	65217	broad.mit.edu	37	10	55996672	55996672	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr10:55996672A>G	ENST00000320301.6	-	9	1290	c.896T>C	c.(895-897)aTt>aCt	p.I299T	PCDH15_ENST00000395446.1_Missense_Mutation_p.I299T|PCDH15_ENST00000373957.3_Missense_Mutation_p.I277T|PCDH15_ENST00000395433.1_Missense_Mutation_p.I277T|PCDH15_ENST00000437009.1_Missense_Mutation_p.I299T|PCDH15_ENST00000395440.1_Missense_Mutation_p.I299T|PCDH15_ENST00000414778.1_Missense_Mutation_p.I304T|PCDH15_ENST00000395442.1_Missense_Mutation_p.I299T|PCDH15_ENST00000395432.2_Missense_Mutation_p.I262T|PCDH15_ENST00000361849.3_Missense_Mutation_p.I299T|PCDH15_ENST00000373965.2_Missense_Mutation_p.I299T|PCDH15_ENST00000373955.1_Missense_Mutation_p.I299T|PCDH15_ENST00000395430.1_Missense_Mutation_p.I299T|PCDH15_ENST00000395445.1_Missense_Mutation_p.I299T|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.I299T	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	299	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGGCGTAACAATAATGGGGTT	0.408										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(895-897)aTt>aCt		protocadherin-related 15							170.0	161.0	164.0					10																	55996672		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55996672A>G	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.896T>C	10.37:g.55996672A>G	ENSP00000322604:p.Ile299Thr	HNSCC(58;0.16)				PCDH15_ENST00000395430.1_Missense_Mutation_p.I299T|PCDH15_ENST00000437009.1_Missense_Mutation_p.I299T|PCDH15_ENST00000395446.1_Missense_Mutation_p.I299T|PCDH15_ENST00000414778.1_Missense_Mutation_p.I304T|PCDH15_ENST00000320301.6_Missense_Mutation_p.I299T|PCDH15_ENST00000373955.1_Missense_Mutation_p.I299T|PCDH15_ENST00000395442.1_Missense_Mutation_p.I299T|PCDH15_ENST00000395433.1_Missense_Mutation_p.I277T|PCDH15_ENST00000395432.2_Missense_Mutation_p.I262T|PCDH15_ENST00000395438.1_Missense_Mutation_p.I299T|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373957.3_Missense_Mutation_p.I277T|PCDH15_ENST00000395445.1_Missense_Mutation_p.I299T|PCDH15_ENST00000395440.1_Missense_Mutation_p.I299T|PCDH15_ENST00000361849.3_Missense_Mutation_p.I299T	p.I299T	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			9	1290	-		Melanoma(3;0.117)|Lung SC(717;0.238)	299			Cadherin 3.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.896T>C	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	A	3.932	-0.015944	0.07681	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.55588	1.47;1.47;1.47;1.47;1.47;1.47;1.47;0.51;1.47;1.47;1.47;1.47;1.47;1.47;1.47	5.19	2.71	0.32032	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.28001	0.0690	N	0.11818	0.18	0.09310	N	0.999995	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.25563	0.073;0.129;0.036;0.036;0.01;0.129;0.073;0.004;0.066;0.066;0.008;0.014;0.015;0.001;0.036	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.26614	0.071;0.045;0.028;0.028;0.007;0.045;0.071;0.007;0.028;0.028;0.007;0.01;0.038;0.001;0.028	T	0.15321	-1.0441	9	0.25106	T	0.35	.	1.4642	0.02402	0.5067:0.1463:0.088:0.259	.	277;299;299;304;299;262;299;299;299;299;299;304;299;277;299	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	T	299;304;299;299;299;299;299;299;262;299;277;277;299;299;304;299;299	ENSP00000363076:I299T;ENSP00000410304:I304T;ENSP00000378826:I299T;ENSP00000378832:I299T;ENSP00000378833:I299T;ENSP00000378829:I299T;ENSP00000378827:I299T;ENSP00000378820:I262T;ENSP00000354950:I299T;ENSP00000378821:I277T;ENSP00000363068:I277T;ENSP00000322604:I299T;ENSP00000378818:I299T;ENSP00000412628:I299T;ENSP00000363066:I299T	ENSP00000322604:I299T	I	-	2	0	PCDH15	55666678	1.000000	0.71417	0.577000	0.28562	0.393000	0.30537	2.595000	0.46197	0.817000	0.34445	-0.280000	0.10049	ATT		0.408	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		23	57	0	0	0	1	0	23	57				
PALD1	27143	broad.mit.edu	37	10	72299451	72299451	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr10:72299451G>T	ENST00000263563.6	+	15	2109	c.1841G>T	c.(1840-1842)cGc>cTc	p.R614L		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	614						cytosol (GO:0005829)											AGCCAGCACCGCAGGGCCTGT	0.662																																						ENST00000263563.6																			0											c.(1840-1842)cGc>cTc		phosphatase domain containing, paladin 1							76.0	72.0	73.0					10																	72299451		2203	4300	6503	SO:0001583	missense	27143							g.chr10:72299451G>T	AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"""paladin"", ""KIAA1274"""	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.1841G>T	10.37:g.72299451G>T	ENSP00000263563:p.Arg614Leu						p.R614L	NM_014431.2	NP_055246.2					15	2109	+								B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Missense_Mutation	SNP	ENST00000263563.6	37	c.1841G>T	CCDS31215.1	.	.	.	.	.	.	.	.	.	.	g	8.251	0.808988	0.16537	.	.	ENSG00000107719	ENST00000263563;ENST00000373214	T	0.27256	1.68	4.59	1.63	0.23807	.	0.640598	0.14970	N	0.287846	T	0.16811	0.0404	L	0.39397	1.21	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.34229	-0.9837	10	0.11182	T	0.66	-1.0189	7.2409	0.26096	0.4336:0.0:0.5664:0.0	.	614	Q9ULE6	PALD_HUMAN	L	614	ENSP00000263563:R614L	ENSP00000263563:R614L	R	+	2	0	KIAA1274	71969457	0.055000	0.20627	0.122000	0.21767	0.681000	0.39784	0.530000	0.23036	0.364000	0.24374	0.444000	0.29173	CGC		0.662	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2	NM_014431		22	86	1	0	3.5997e-14	1	4.1535e-14	22	86				
SMG5	23381	broad.mit.edu	37	1	156236414	156236414	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:156236414G>A	ENST00000361813.5	-	11	1317	c.1173C>T	c.(1171-1173)ctC>ctT	p.L391L	SMG5_ENST00000368267.5_Intron|SMG5_ENST00000489907.2_5'UTR	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	391					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					CATGATTGACGAGGTGGGAAA	0.582																																						ENST00000361813.5																			0				NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48						c.(1171-1173)ctC>ctT		SMG5 nonsense mediated mRNA decay factor							103.0	98.0	100.0					1																	156236414		2203	4300	6503	SO:0001819	synonymous_variant	23381				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding	g.chr1:156236414G>A	AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog B (S. cerevisiae)"""	610962	"""smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"""			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.1173C>T	1.37:g.156236414G>A						SMG5_ENST00000368267.4_Intron	p.L391L	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN			11	1317	-	Hepatocellular(266;0.158)		391					D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Silent	SNP	ENST00000361813.5	37	c.1173C>T	CCDS1137.1																																																																																				0.582	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1	NM_015327		16	48	0	0	0	1	0	16	48				
NACA	4666	broad.mit.edu	37	12	57112023	57112023	+	Silent	SNP	T	T	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr12:57112023T>C	ENST00000454682.1	-	3	3572	c.3291A>G	c.(3289-3291)ccA>ccG	p.P1097P	NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1097	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CTTTGGGGGATGGGGTAGCTG	0.662			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3289-3291)ccA>ccG		nascent polypeptide-associated complex alpha subunit							46.0	56.0	53.0					12																	57112023		1331	2919	4250	SO:0001819	synonymous_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57112023T>C	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3291A>G	12.37:g.57112023T>C						NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron	p.P1097P	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	3572	-			0						Silent	SNP	ENST00000454682.1	37	c.3291A>G																																																																																					0.662	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		24	61	0	0	0	1	0	24	61				
CCDC108	255101	broad.mit.edu	37	2	219892531	219892531	+	Silent	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr2:219892531G>T	ENST00000341552.5	-	13	2135	c.2052C>A	c.(2050-2052)atC>atA	p.I684I	CCDC108_ENST00000453220.1_Silent_p.I684I|CCDC108_ENST00000441968.1_Silent_p.I684I|CCDC108_ENST00000409865.3_Silent_p.I673I|CCDC108_ENST00000410037.1_Silent_p.I619I	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	684						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGACCACCATGATCTTGCCCT	0.622																																						ENST00000341552.5																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(2050-2052)atC>atA		coiled-coil domain containing 108							70.0	63.0	65.0					2																	219892531		2203	4300	6503	SO:0001819	synonymous_variant	255101					integral to membrane	structural molecule activity	g.chr2:219892531G>T	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.2052C>A	2.37:g.219892531G>T						CCDC108_ENST00000409865.3_Silent_p.I673I|CCDC108_ENST00000453220.1_Silent_p.I684I|CCDC108_ENST00000441968.1_Silent_p.I684I|CCDC108_ENST00000410037.1_Silent_p.I619I	p.I684I	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	13	2135	-		Renal(207;0.0915)	684					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Silent	SNP	ENST00000341552.5	37	c.2052C>A	CCDS2430.2																																																																																				0.622	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		7	41	1	0	0.00307968	1	0.00316405	7	41				
EDC4	23644	broad.mit.edu	37	16	67914646	67914646	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr16:67914646G>C	ENST00000358933.5	+	18	2523	c.2284G>C	c.(2284-2286)Gag>Cag	p.E762Q	CTC-479C5.10_ENST00000572067.1_lincRNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	762					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTCTGCACCAGAGGGCCTTGA	0.657																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(2284-2286)Gag>Cag		enhancer of mRNA decapping 4							134.0	128.0	130.0					16																	67914646		2198	4300	6498	SO:0001583	missense	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67914646G>C	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.2284G>C	16.37:g.67914646G>C	ENSP00000351811:p.Glu762Gln						p.E762Q	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	18	2523	+		Ovarian(137;0.0563)	762					A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Missense_Mutation	SNP	ENST00000358933.5	37	c.2284G>C	CCDS10849.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.480956	0.44044	.	.	ENSG00000038358	ENST00000358933	.	.	.	5.47	5.47	0.80525	.	0.097672	0.64402	D	0.000001	T	0.25457	0.0619	N	0.24115	0.695	0.29868	N	0.82705	P	0.38335	0.627	B	0.29663	0.105	T	0.15723	-1.0427	9	0.22706	T	0.39	-12.4663	13.8383	0.63424	0.0:0.0:0.8469:0.153	.	762	Q6P2E9	EDC4_HUMAN	Q	762	.	ENSP00000351811:E762Q	E	+	1	0	EDC4	66472147	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	3.087000	0.50167	2.560000	0.86352	0.591000	0.81541	GAG		0.657	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		45	173	0	0	0	1	0	45	173				
FBXO42	54455	broad.mit.edu	37	1	16577604	16577604	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:16577604G>A	ENST00000375592.3	-	10	1931	c.1715C>T	c.(1714-1716)tCg>tTg	p.S572L		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	572										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		TGCAGAGGCCGAGGGGCCTTT	0.637																																						ENST00000375592.3																			0				autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26						c.(1714-1716)tCg>tTg		F-box protein 42							37.0	38.0	38.0					1																	16577604		2203	4300	6503	SO:0001583	missense	54455							g.chr1:16577604G>A	BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"""F-boxes /  ""other"""""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.1715C>T	1.37:g.16577604G>A	ENSP00000364742:p.Ser572Leu						p.S572L	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)	10	1931	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	572					B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Missense_Mutation	SNP	ENST00000375592.3	37	c.1715C>T	CCDS30613.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.928355	0.52759	.	.	ENSG00000037637	ENST00000375592;ENST00000456164;ENST00000444116	T;T;T	0.56103	3.67;0.48;0.48	5.52	5.52	0.82312	.	0.373893	0.30859	N	0.008731	T	0.37461	0.1004	N	0.14661	0.345	0.50813	D	0.999891	B	0.31519	0.327	B	0.19391	0.025	T	0.32587	-0.9901	10	0.59425	D	0.04	-6.1179	18.7864	0.91957	0.0:0.0:1.0:0.0	.	572	Q6P3S6	FBX42_HUMAN	L	572;290;290	ENSP00000364742:S572L;ENSP00000415663:S290L;ENSP00000412416:S290L	ENSP00000364742:S572L	S	-	2	0	FBXO42	16450191	1.000000	0.71417	0.962000	0.40283	0.897000	0.52465	6.511000	0.73733	2.767000	0.95098	0.655000	0.94253	TCG		0.637	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006285.1			17	54	0	0	0	1	0	17	54				
CHRNG	1146	broad.mit.edu	37	2	233408064	233408064	+	Silent	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr2:233408064G>T	ENST00000389494.3	+	8	906	c.885G>T	c.(883-885)gtG>gtT	p.V295V	CHRNG_ENST00000389492.3_Silent_p.V243V	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	295					muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	Galantamine(DB00674)	CCAAGAAGGTGCCTGAAACCT	0.592																																						ENST00000389494.3																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22						c.(883-885)gtG>gtT		cholinergic receptor, nicotinic, gamma (muscle)							98.0	93.0	95.0					2																	233408064		2203	4300	6503	SO:0001819	synonymous_variant	1146				muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity	g.chr2:233408064G>T	X01715	CCDS33400.1	2q37.1	2012-10-02	2012-02-07		ENSG00000196811	ENSG00000196811		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1967	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, gamma (muscle)"""	100730	"""cholinergic receptor, nicotinic, gamma"""	ACHRG			Standard	NM_005199		Approved		uc002vsx.1	P07510	OTTHUMG00000153327	ENST00000389494.3:c.885G>T	2.37:g.233408064G>T						CHRNG_ENST00000389492.3_Silent_p.V243V	p.V295V	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	8	906	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	295					B3KWM8|Q14DU4|Q53RG2	Silent	SNP	ENST00000389494.3	37	c.885G>T	CCDS33400.1																																																																																				0.592	CHRNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330743.1	NM_005199		13	33	1	0	7.03913e-09	1	7.67905e-09	13	33				
MGAM	8972	broad.mit.edu	37	7	141736626	141736626	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr7:141736626C>A	ENST00000549489.2	+	18	2175	c.2080C>A	c.(2080-2082)Cag>Aag	p.Q694K	MGAM_ENST00000475668.2_Missense_Mutation_p.Q694K	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	694	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTCCCAGGACCAGGATCCTGC	0.488																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(2080-2082)Cag>Aag		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						144.0	150.0	148.0					7																	141736626		2129	4241	6370	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141736626C>A	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.2080C>A	7.37:g.141736626C>A	ENSP00000447378:p.Gln694Lys					MGAM_ENST00000549489.2_Missense_Mutation_p.Q694K	p.Q694K			O43451	MGA_HUMAN			18	2134	+	Melanoma(164;0.0272)		694			Maltase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.2080C>A	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.247252	0.80024	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.91740	-2.9	5.81	5.81	0.92471	Glycoside hydrolase, superfamily (1);	0.000000	0.50627	D	0.000107	D	0.96433	0.8836	M	0.88181	2.935	0.40629	D	0.981837	D	0.89917	1.0	D	0.80764	0.994	D	0.96980	0.9714	10	0.72032	D	0.01	.	14.364	0.66792	0.1486:0.8514:0.0:0.0	.	694	O43451	MGA_HUMAN	K	694;694;571	ENSP00000447378:Q694K	ENSP00000316431:Q571K	Q	+	1	0	MGAM	141383095	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	5.918000	0.69996	2.763000	0.94921	0.650000	0.86243	CAG		0.488	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			40	115	1	0	7.53189e-24	1	8.86105e-24	40	115				
PIGG	54872	broad.mit.edu	37	4	493239	493239	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr4:493239G>C	ENST00000453061.2	+	1	221	c.115G>C	c.(115-117)Gaa>Caa	p.E39Q	PIGG_ENST00000503111.1_5'UTR|PIGG_ENST00000536264.1_5'UTR|PIGG_ENST00000296306.7_5'UTR|PIGG_ENST00000383028.4_Missense_Mutation_p.E39Q|ZNF721_ENST00000338977.5_5'Flank|PIGG_ENST00000504346.1_Intron|PIGG_ENST00000310340.5_Missense_Mutation_p.E39Q|PIGG_ENST00000509768.1_5'UTR|ZNF721_ENST00000511833.2_5'Flank|PIGG_ENST00000502311.1_3'UTR	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	39					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						TGCCAGAGCGGAACACGGAGC	0.652																																						ENST00000453061.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						c.(115-117)Gaa>Caa		phosphatidylinositol glycan anchor biosynthesis, class G							36.0	33.0	34.0					4																	493239		2203	4299	6502	SO:0001583	missense	54872				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity	g.chr4:493239G>C		CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"""Phosphatidylinositol glycan anchor biosynthesis"""	25985	protein-coding gene	gene with protein product			"""phosphatidylinositol glycan, class G"""			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.115G>C	4.37:g.493239G>C	ENSP00000415203:p.Glu39Gln					PIGG_ENST00000504346.1_Intron|PIGG_ENST00000509768.1_5'UTR|PIGG_ENST00000383028.4_Missense_Mutation_p.E39Q|PIGG_ENST00000296306.7_5'UTR|PIGG_ENST00000310340.5_Missense_Mutation_p.E39Q|PIGG_ENST00000503111.1_5'UTR|PIGG_ENST00000502311.1_3'UTR|PIGG_ENST00000536264.1_5'UTR	p.E39Q	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN			1	221	+			39					B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Missense_Mutation	SNP	ENST00000453061.2	37	c.115G>C	CCDS46992.1	.	.	.	.	.	.	.	.	.	.	G	9.520	1.107991	0.20714	.	.	ENSG00000174227	ENST00000310340;ENST00000453061;ENST00000383028	T;T;T	0.10099	3.23;3.24;2.91	4.4	0.311	0.15831	.	0.678333	0.15105	N	0.280304	T	0.05364	0.0142	N	0.22421	0.69	0.20638	N	0.999874	B;B;B	0.29432	0.002;0.158;0.244	B;B;B	0.24701	0.004;0.025;0.055	T	0.39702	-0.9601	10	0.21540	T	0.41	.	4.3402	0.11106	0.2171:0.3688:0.4141:0.0	.	39;39;39	Q5H8A4-3;Q5H8A4;Q5H8A4-2	.;PIGG_HUMAN;.	Q	39	ENSP00000311750:E39Q;ENSP00000415203:E39Q;ENSP00000372494:E39Q	ENSP00000311750:E39Q	E	+	1	0	PIGG	483239	0.100000	0.21855	0.016000	0.15963	0.001000	0.01503	1.432000	0.34936	0.410000	0.25675	-0.312000	0.09012	GAA		0.652	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1	NM_017733		5	13	0	0	0	1	0	5	13				
RASGRP1	10125	broad.mit.edu	37	15	38792304	38792304	+	Splice_Site	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr15:38792304C>G	ENST00000310803.5	-	14	1897	c.1720G>C	c.(1720-1722)Gac>Cac	p.D574H	RP11-102L12.2_ENST00000560231.1_RNA|RASGRP1_ENST00000450598.2_Splice_Site_p.D539H|RASGRP1_ENST00000561180.1_Splice_Site_p.D625H|RASGRP1_ENST00000559830.1_Splice_Site_p.D539H|RASGRP1_ENST00000539159.1_Splice_Site_p.D526H|RASGRP1_ENST00000558164.1_Splice_Site_p.G539R	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	574					activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TGAGTCTTACCTTTACATCGA	0.428																																						ENST00000310803.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.e14+1		RAS guanyl releasing protein 1 (calcium and DAG-regulated)							215.0	213.0	214.0					15																	38792304		1937	4153	6090	SO:0001630	splice_region_variant	10125				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding	g.chr15:38792304C>G	AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"""EF-hand domain containing"""	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.1720+1G>C	15.37:g.38792304C>G						RASGRP1_ENST00000558164.1_Splice_Site_p.G539_splice|RASGRP1_ENST00000450598.2_Splice_Site_p.D539_splice|RASGRP1_ENST00000559830.1_Splice_Site_p.D539_splice|RASGRP1_ENST00000539159.1_Splice_Site_p.D526_splice|RASGRP1_ENST00000561180.1_Splice_Site_p.D625_splice	p.D574_splice	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)	14	1897	-		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)	574					Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Splice_Site	SNP	ENST00000310803.5	37	c.1720_splice	CCDS45222.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.7|27.7	4.855700|4.855700	0.91355|0.91355	.|.	.|.	ENSG00000172575|ENSG00000172575	ENST00000310803;ENST00000450598;ENST00000415523;ENST00000539159|ENST00000431814	D;D;D|.	0.93076|.	-3.16;-3.16;-3.16|.	5.05|5.05	5.05|5.05	0.67936|0.67936	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);|.	0.151243|.	0.56097|.	N|.	0.000023|.	T|T	0.77246|0.77246	0.4102|0.4102	M|M	0.81497|0.81497	2.545|2.545	0.80722|0.80722	D|D	1|1	D;D;D|D	0.89917|0.67145	1.0;1.0;1.0|0.996	D;D;D|P	0.83275|0.57283	0.996;0.996;0.996|0.817	T|T	0.79102|0.79102	-0.1941|-0.1941	9|7	.|.	.|.	.|.	-26.5287|-26.5287	18.5957|18.5957	0.91228|0.91228	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	539;574;539|539	C9JCE5;O95267;O95267-2|C9JM27	.;GRP1_HUMAN;.|.	H|R	574;539;539;526|539	ENSP00000310244:D574H;ENSP00000388540:D539H;ENSP00000444762:D526H|.	.|.	D|G	-|-	1|1	0|0	RASGRP1|RASGRP1	36579596|36579596	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	7.600000|7.600000	0.82769|0.82769	2.614000|2.614000	0.88457|0.88457	0.655000|0.655000	0.94253|0.94253	GAC|GGA		0.428	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418223.1	NM_005739	Missense_Mutation	17	63	0	0	0	1	0	17	63				
KCNJ14	3770	broad.mit.edu	37	19	48967826	48967826	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr19:48967826A>T	ENST00000391884.1	+	2	1579	c.1103A>T	c.(1102-1104)gAa>gTa	p.E368V	CTC-273B12.7_ENST00000595676.1_5'Flank|CTC-273B12.6_ENST00000597574.1_lincRNA|CTC-273B12.5_ENST00000596497.1_RNA|CTC-273B12.5_ENST00000600650.1_RNA|CTC-273B12.5_ENST00000600529.1_RNA|KCNJ14_ENST00000342291.2_Missense_Mutation_p.E368V|CTC-273B12.5_ENST00000593476.1_RNA			Q9UNX9	KCJ14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	368					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	Yohimbine(DB01392)	GAGCTGGATGAACGGGCAGAG	0.557																																					NSCLC(148;170 3504 35216)	ENST00000391884.1																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10						c.(1102-1104)gAa>gTa		potassium inwardly-rectifying channel, subfamily J, member 14							66.0	64.0	65.0					19																	48967826		2203	4300	6503	SO:0001583	missense	3770					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr19:48967826A>T	BC042033	CCDS12721.1	19q13	2011-07-05				ENSG00000182324		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6260	protein-coding gene	gene with protein product		603953				9592090, 10723734, 16382105	Standard	NM_013348		Approved	Kir2.4, IRK4	uc002pje.2	Q9UNX9		ENST00000391884.1:c.1103A>T	19.37:g.48967826A>T	ENSP00000375756:p.Glu368Val					KCNJ14_ENST00000342291.2_Missense_Mutation_p.E368V	p.E368V			Q9UNX9	IRK14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	2	1579	+		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	368						Missense_Mutation	SNP	ENST00000391884.1	37	c.1103A>T	CCDS12721.1	.	.	.	.	.	.	.	.	.	.	A	19.62	3.862178	0.71949	.	.	ENSG00000182324	ENST00000342291;ENST00000391884	D;D	0.94576	-3.46;-3.46	5.24	4.21	0.49690	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.213333	0.41605	D	0.000849	D	0.97387	0.9145	H	0.94222	3.51	0.42993	D	0.994491	P	0.49635	0.926	P	0.59357	0.856	D	0.97607	1.0127	10	0.87932	D	0	.	10.9383	0.47257	0.8423:0.1577:0.0:0.0	.	368	Q9UNX9	IRK14_HUMAN	V	368	ENSP00000341479:E368V;ENSP00000375756:E368V	ENSP00000341479:E368V	E	+	2	0	KCNJ14	53659638	1.000000	0.71417	0.938000	0.37757	0.993000	0.82548	7.422000	0.80217	1.055000	0.40461	0.533000	0.62120	GAA		0.557	KCNJ14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466127.1	NM_013348		12	52	0	0	0	1	0	12	52				
HIST1H2AE	3012	broad.mit.edu	37	6	26217509	26217509	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr6:26217509A>T	ENST00000303910.2	+	1	345	c.307A>T	c.(307-309)Atc>Ttc	p.I103F	HIST1H2BG_ENST00000244601.3_5'Flank	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	103						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				TCGCGTGACCATCGCGCAGGG	0.577																																						ENST00000303910.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10						c.(307-309)Atc>Ttc		histone cluster 1, H2ae							76.0	74.0	74.0					6																	26217509		2203	4300	6503	SO:0001583	missense	3012				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26217509A>T	M60752	CCDS4595.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000168274	ENSG00000277075		"""Histones / Replication-dependent"""	4724	protein-coding gene	gene with protein product		602786	"""H2A histone family, member A"", ""histone 1, H2ae"""	H2AFA		9119399, 1916825, 12408966	Standard	NM_021052		Approved	H2A/a, H2A.1	uc003nha.1	P04908	OTTHUMG00000014440	ENST00000303910.2:c.307A>T	6.37:g.26217509A>T	ENSP00000303373:p.Ile103Phe						p.I103F	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN			1	345	+		all_hematologic(11;0.196)	103					P28001|Q76P63	Missense_Mutation	SNP	ENST00000303910.2	37	c.307A>T	CCDS4595.1	.	.	.	.	.	.	.	.	.	.	.	13.63	2.293847	0.40594	.	.	ENSG00000168274	ENST00000303910	T	0.49432	0.78	4.07	4.07	0.47477	.	0.000000	0.34555	U	0.003879	T	0.60843	0.2300	M	0.87456	2.885	0.52501	D	0.999958	.	.	.	.	.	.	T	0.69654	-0.5087	8	0.87932	D	0	.	12.6507	0.56759	1.0:0.0:0.0:0.0	.	.	.	.	F	103	ENSP00000303373:I103F	ENSP00000303373:I103F	I	+	1	0	HIST1H2AE	26325488	1.000000	0.71417	0.958000	0.39756	0.023000	0.10783	9.055000	0.93873	1.834000	0.53371	0.528000	0.53228	ATC		0.577	HIST1H2AE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040103.1	NM_021052		19	69	0	0	0	1	0	19	69				
PFDN4	5203	broad.mit.edu	37	20	52830980	52830980	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr20:52830980G>A	ENST00000371419.2	+	2	369	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	PFDN4_ENST00000487129.1_3'UTR	NM_002623.3	NP_002614.2	Q9NQP4	PFD4_HUMAN	prefoldin subunit 4	39					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chaperone binding (GO:0051087)			endometrium(1)|kidney(2)	3	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		Colorectal(105;0.124)|STAD - Stomach adenocarcinoma(23;0.206)			GCTGAAGGAAGAAATAGAAGT	0.284																																						ENST00000371419.2																			0				endometrium(1)|kidney(2)	3						c.(115-117)Gaa>Aaa		prefoldin subunit 4							25.0	24.0	25.0					20																	52830980		2203	4293	6496	SO:0001583	missense	5203				'de novo' posttranslational protein folding	prefoldin complex	chaperone binding|unfolded protein binding	g.chr20:52830980G>A	U41816	CCDS13445.1	20q13.2	2008-07-02	2006-02-24		ENSG00000101132	ENSG00000101132			8868	protein-coding gene	gene with protein product		604898	"""prefoldin 4"""			9630229, 8744932	Standard	NM_002623		Approved	PFD4, C-1, C1	uc002xwx.3	Q9NQP4	OTTHUMG00000032775	ENST00000371419.2:c.115G>A	20.37:g.52830980G>A	ENSP00000360473:p.Glu39Lys					PFDN4_ENST00000487129.1_3'UTR	p.E39K	NM_002623.3	NP_002614.2	Q9NQP4	PFD4_HUMAN	Colorectal(105;0.124)|STAD - Stomach adenocarcinoma(23;0.206)		2	369	+	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		39					Q5TD11|Q92779	Missense_Mutation	SNP	ENST00000371419.2	37	c.115G>A	CCDS13445.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.788621	0.90367	.	.	ENSG00000101132	ENST00000371419	T	0.42513	0.97	4.96	4.96	0.65561	Prefoldin beta-like (1);Prefoldin (1);	0.000000	0.85682	D	0.000000	T	0.50222	0.1603	M	0.67569	2.06	0.80722	D	1	P	0.45531	0.86	P	0.47075	0.536	T	0.46359	-0.9197	10	0.27785	T	0.31	-29.0251	17.5353	0.87829	0.0:0.0:1.0:0.0	.	39	Q9NQP4	PFD4_HUMAN	K	39	ENSP00000360473:E39K	ENSP00000360473:E39K	E	+	1	0	PFDN4	52264387	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.591000	0.98241	2.451000	0.82905	0.655000	0.94253	GAA		0.284	PFDN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079771.2	NM_002623		4	11	0	0	0	1	0	4	11				
IGF2R	3482	broad.mit.edu	37	6	160525931	160525931	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr6:160525931A>T	ENST00000356956.1	+	48	7439	c.7291A>T	c.(7291-7293)Agc>Tgc	p.S2431C	IGF2R_ENST00000475584.1_Intron	NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2431					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	TGGGGCAGAGAGCTCCCACCC	0.607																																						ENST00000356956.1																			0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(7291-7293)Agc>Tgc		insulin-like growth factor 2 receptor							114.0	103.0	107.0					6																	160525931		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160525931A>T	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.7291A>T	6.37:g.160525931A>T	ENSP00000349437:p.Ser2431Cys					IGF2R_ENST00000475584.1_Intron	p.S2431C	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	48	7439	+		Breast(66;0.000777)|Ovarian(120;0.0305)	2431					Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.7291A>T	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	A	15.69	2.907645	0.52333	.	.	ENSG00000197081	ENST00000356956	T	0.11385	2.78	5.07	0.976	0.19727	.	0.652875	0.16278	N	0.221465	T	0.05502	0.0145	M	0.65975	2.015	0.19575	N	0.999964	P	0.50369	0.934	B	0.43916	0.436	T	0.19386	-1.0307	10	0.56958	D	0.05	-7.7746	6.7207	0.23328	0.3885:0.0:0.6115:0.0	.	2431	P11717	MPRI_HUMAN	C	2431	ENSP00000349437:S2431C	ENSP00000349437:S2431C	S	+	1	0	IGF2R	160445921	0.000000	0.05858	0.038000	0.18304	0.591000	0.36615	0.231000	0.17872	0.347000	0.23924	0.533000	0.62120	AGC		0.607	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		22	78	0	0	0	1	0	22	78				
ZNF862	643641	broad.mit.edu	37	7	149558224	149558224	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr7:149558224C>G	ENST00000223210.4	+	7	2220	c.1975C>G	c.(1975-1977)Ctg>Gtg	p.L659V	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	659					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						CTACATCACTCTGGCCCCTCT	0.587																																						ENST00000223210.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						c.(1975-1977)Ctg>Gtg		zinc finger protein 862							27.0	29.0	28.0					7																	149558224		2090	4216	6306	SO:0001583	missense	643641				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity	g.chr7:149558224C>G	AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"""Zinc fingers, C2H2-type"", ""-"""	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.1975C>G	7.37:g.149558224C>G	ENSP00000223210:p.Leu659Val						p.L659V	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN			7	2220	+			659					A0AUL8	Missense_Mutation	SNP	ENST00000223210.4	37	c.1975C>G	CCDS47741.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.581401	0.28180	.	.	ENSG00000106479	ENST00000223210	T	0.21031	2.03	5.28	1.45	0.22620	Ribonuclease H-like (1);	0.000000	0.39834	N	0.001244	T	0.39009	0.1062	L	0.61218	1.895	0.22666	N	0.998877	D	0.76494	0.999	D	0.76071	0.987	T	0.16541	-1.0399	10	0.48119	T	0.1	-38.9599	11.4906	0.50379	0.0:0.8705:0.0:0.1295	.	659	O60290	ZN862_HUMAN	V	659	ENSP00000223210:L659V	ENSP00000223210:L659V	L	+	1	2	ZNF862	149189157	0.057000	0.20700	0.395000	0.26283	0.651000	0.38670	-0.030000	0.12308	0.128000	0.18479	0.655000	0.94253	CTG		0.587	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	NM_001099220		4	23	0	0	0	1	0	4	23				
PRKDC	5591	broad.mit.edu	37	8	48798592	48798592	+	Missense_Mutation	SNP	G	G	C	rs527806311		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr8:48798592G>C	ENST00000314191.2	-	37	4742	c.4686C>G	c.(4684-4686)ttC>ttG	p.F1562L	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.F1562L	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1563					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TCGTTTCTGAGAACAAGCTAT	0.473								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(4684-4686)ttC>ttG	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							121.0	123.0	123.0					8																	48798592		1904	4145	6049	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48798592G>C		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.4686C>G	8.37:g.48798592G>C	ENSP00000313420:p.Phe1562Leu					PRKDC_ENST00000338368.3_Missense_Mutation_p.F1562L|PRKDC_ENST00000523565.1_5'UTR	p.F1562L	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			37	4742	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	1563					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.4686C>G		.	.	.	.	.	.	.	.	.	.	G	20.4	3.985378	0.74474	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.08896	3.1;3.04	5.5	1.69	0.24217	.	0.000000	0.85682	D	0.000000	T	0.22781	0.0550	M	0.74881	2.28	0.51482	D	0.99992	D;P	0.69078	0.997;0.941	D;P	0.66196	0.942;0.77	T	0.00274	-1.1857	10	0.72032	D	0.01	.	9.1934	0.37213	0.4251:0.0:0.5749:0.0	.	1562;1563	E7EUY0;P78527	.;PRKDC_HUMAN	L	1562	ENSP00000313420:F1562L;ENSP00000345182:F1562L	ENSP00000313420:F1562L	F	-	3	2	PRKDC	48961145	1.000000	0.71417	0.991000	0.47740	0.890000	0.51754	2.021000	0.41020	0.022000	0.15160	0.643000	0.83706	TTC		0.473	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		12	126	0	0	0	1	0	12	126				
LAMB4	22798	broad.mit.edu	37	7	107692621	107692621	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr7:107692621C>G	ENST00000388781.3	-	26	3920	c.3837G>C	c.(3835-3837)aaG>aaC	p.K1279N	LAMB4_ENST00000205386.4_Missense_Mutation_p.K1279N|LAMB4_ENST00000388780.3_Missense_Mutation_p.K1279N	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1279	Domain II.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CTGCTTCATTCTTTGCTCTTT	0.358																																						ENST00000388781.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						c.(3835-3837)aaG>aaC		laminin, beta 4							196.0	185.0	188.0					7																	107692621		2203	4300	6503	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107692621C>G	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.3837G>C	7.37:g.107692621C>G	ENSP00000373433:p.Lys1279Asn					LAMB4_ENST00000388780.3_Missense_Mutation_p.K1279N|LAMB4_ENST00000205386.4_Missense_Mutation_p.K1279N	p.K1279N	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN			26	3920	-			1279			Domain II.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.3837G>C	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	C	7.364	0.625459	0.14257	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.32023	1.47;1.47;1.89;1.49	4.99	1.11	0.20524	.	0.823203	0.10628	N	0.652534	T	0.14227	0.0344	N	0.14661	0.345	0.09310	N	1	B;B	0.26672	0.05;0.156	B;B	0.21917	0.026;0.037	T	0.30880	-0.9963	10	0.20046	T	0.44	.	4.0036	0.09590	0.2805:0.4811:0.0:0.2383	.	1279;1279	A4D0S4-3;A4D0S4	.;LAMB4_HUMAN	N	1279;1279;305;1279	ENSP00000205386:K1279N;ENSP00000373433:K1279N;ENSP00000416562:K305N;ENSP00000373432:K1279N	ENSP00000205386:K1279N	K	-	3	2	LAMB4	107479857	0.002000	0.14202	0.008000	0.14137	0.801000	0.45260	-0.101000	0.10973	0.031000	0.15407	0.655000	0.94253	AAG		0.358	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		15	55	0	0	0	1	0	15	55				
SPAM1	6677	broad.mit.edu	37	7	123594531	123594531	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr7:123594531T>A	ENST00000439500.1	+	4	1520	c.907T>A	c.(907-909)Tat>Aat	p.Y303N	SPAM1_ENST00000340011.5_Missense_Mutation_p.Y303N|SPAM1_ENST00000402183.2_Missense_Mutation_p.Y303N|SPAM1_ENST00000223028.7_Missense_Mutation_p.Y303N|SPAM1_ENST00000460182.1_Missense_Mutation_p.Y303N	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	303					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGTTTTTGCATATACCCGCAT	0.403																																						ENST00000340011.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(907-909)Tat>Aat		sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	Hyaluronidase(DB00070)						41.0	40.0	40.0					7																	123594531		2202	4299	6501	SO:0001583	missense	6677				binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	g.chr7:123594531T>A	L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.907T>A	7.37:g.123594531T>A	ENSP00000402123:p.Tyr303Asn					SPAM1_ENST00000223028.7_Missense_Mutation_p.Y303N|SPAM1_ENST00000460182.1_Missense_Mutation_p.Y303N|SPAM1_ENST00000439500.1_Missense_Mutation_p.Y303N|SPAM1_ENST00000402183.2_Missense_Mutation_p.Y303N	p.Y303N	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN			3	1264	+			303					Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	c.907T>A	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.607770	0.87258	.	.	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14	6.17	6.17	0.99709	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.72867	0.3514	H	0.96365	3.81	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82086	-0.0631	9	.	.	.	-61.0096	16.0034	0.80327	0.0:0.0:0.0:1.0	.	303;303	Q8TC30;P38567	.;HYALP_HUMAN	N	303	ENSP00000386028:Y303N;ENSP00000417934:Y303N;ENSP00000345849:Y303N;ENSP00000402123:Y303N;ENSP00000223028:Y303N	.	Y	+	1	0	SPAM1	123381767	1.000000	0.71417	0.501000	0.27601	0.007000	0.05969	7.587000	0.82613	2.371000	0.80710	0.533000	0.62120	TAT		0.403	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			8	26	0	0	0	1	0	8	26				
NOTCH1	4851	broad.mit.edu	37	9	139400146	139400146	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr9:139400146C>T	ENST00000277541.6	-	25	4277	c.4202G>A	c.(4201-4203)gGg>gAg	p.G1401E		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1401	EGF-like 36. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CTCACAGGTCCCCTGGTTGTA	0.672			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(4201-4203)gGg>gAg		notch 1							17.0	22.0	20.0					9																	139400146		1893	4089	5982	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139400146C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.4202G>A	9.37:g.139400146C>T	ENSP00000277541:p.Gly1401Glu	HNSCC(8;0.001)					p.G1401E	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	25	4277	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1401			EGF-like 36.		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.4202G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.564754	0.45694	.	.	ENSG00000148400	ENST00000277541	T	0.78481	-1.18	4.25	3.34	0.38264	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.91016	0.7174	H	0.96604	3.85	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.91958	0.5576	10	0.87932	D	0	.	11.2252	0.48880	0.0:0.9091:0.0:0.0909	.	1401	P46531	NOTC1_HUMAN	E	1401	ENSP00000277541:G1401E	ENSP00000277541:G1401E	G	-	2	0	NOTCH1	138519967	1.000000	0.71417	0.893000	0.35052	0.147000	0.21601	7.330000	0.79181	0.768000	0.33290	-0.163000	0.13421	GGG		0.672	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		6	9	0	0	0	1	0	6	9				
SNHG24	101929369	broad.mit.edu	37	14	101441178	101441178	+	lincRNA	SNP	T	T	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr14:101441178T>A	ENST00000554693.2	+	0	462				SNORD114-18_ENST00000365272.1_RNA|SNORD113_ENST00000364630.1_RNA|SNORD114-17_ENST00000364699.1_RNA|SNORD114-19_ENST00000363072.1_RNA|SNORD114-14_ENST00000362723.1_RNA|SNORD114-16_ENST00000363044.1_RNA|SNORD114-15_ENST00000364687.1_RNA																							ATTGGAGTTATGGACGATGAA	0.373																																						ENST00000554693.2																			0																				124.0	105.0	111.0					14																	101441178		876	1991	2867			101929369							g.chr14:101441178T>A																													14.37:g.101441178T>A						SNORD114-17_ENST00000364699.1_RNA								0	462	+									RNA	SNP	ENST00000554693.2	37																																																																																						0.373	RP11-909M7.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000468646.1			14	33	0	0	0	1	0	14	33				
DEPDC7	91614	broad.mit.edu	37	11	33049326	33049326	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr11:33049326C>T	ENST00000241051.3	+	3	651	c.559C>T	c.(559-561)Cat>Tat	p.H187Y	DEPDC7_ENST00000311388.3_Missense_Mutation_p.H178Y	NM_001077242.1	NP_001070710.1	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	187					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						caactcccctcatgtaaatat	0.363																																						ENST00000311388.3																			0				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						c.(532-534)Cat>Tat		DEP domain containing 7							85.0	83.0	84.0					11																	33049326		1831	4072	5903	SO:0001583	missense	91614				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:33049326C>T		CCDS41632.1, CCDS41633.1	11p13	2006-03-24			ENSG00000121690	ENSG00000121690			29899	protein-coding gene	gene with protein product		612294				10568747	Standard	NM_001077242		Approved		uc001mub.3	Q96QD5	OTTHUMG00000166242	ENST00000241051.3:c.559C>T	11.37:g.33049326C>T	ENSP00000241051:p.His187Tyr					DEPDC7_ENST00000241051.3_Missense_Mutation_p.H187Y	p.H178Y	NM_139160.2	NP_631899.2	Q96QD5	DEPD7_HUMAN			3	908	+			187					G5E941|Q8N602|Q8NCU9|Q9UGK5	Missense_Mutation	SNP	ENST00000241051.3	37	c.532C>T	CCDS41632.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.692828	0.30052	.	.	ENSG00000121690	ENST00000241051;ENST00000311388	T;T	0.14022	2.54;2.54	5.76	1.75	0.24633	.	0.920070	0.09439	N	0.801971	T	0.07143	0.0181	L	0.44542	1.39	0.09310	N	1	P;B;B	0.40398	0.716;0.217;0.167	B;B;B	0.27608	0.081;0.06;0.038	T	0.24799	-1.0150	10	0.07990	T	0.79	-0.1332	3.3051	0.06997	0.1415:0.5722:0.1366:0.1497	.	187;178;187	B4DJ78;G5E941;Q96QD5	.;.;DEPD7_HUMAN	Y	187;178	ENSP00000241051:H187Y;ENSP00000308971:H178Y	ENSP00000241051:H187Y	H	+	1	0	DEPDC7	33005902	0.014000	0.17966	0.011000	0.14972	0.996000	0.88848	0.628000	0.24522	0.074000	0.16767	0.555000	0.69702	CAT		0.363	DEPDC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388655.1	NM_139160		5	12	0	0	0	1	0	5	12				
ORC1	4998	broad.mit.edu	37	1	52840499	52840499	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:52840499C>T	ENST00000371568.3	-	16	2592	c.2374G>A	c.(2374-2376)Gaa>Aaa	p.E792K	ORC1_ENST00000371566.1_Missense_Mutation_p.E792K	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	792	Necessary and sufficient for ORC complex assembly.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AACGTGGCTTCCTCCAGTCCT	0.433																																						ENST00000371568.3																			0				breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(2374-2376)Gaa>Aaa		origin recognition complex, subunit 1							71.0	70.0	71.0					1																	52840499		2203	4300	6503	SO:0001583	missense	4998				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding	g.chr1:52840499C>T		CCDS566.1	1p32	2010-10-12	2010-10-12	2010-10-12	ENSG00000085840	ENSG00000085840		"""ATPases / AAA-type"""	8487	protein-coding gene	gene with protein product	"""origin recognition complex, subunit 1, S. cerevisiae, homolog-like"", ""origin recognition complex 1"", ""replication control protein 1"""	601902	"""origin recognition complex, subunit 1 (yeast homolog)-like"", ""origin recognition complex, subunit 1-like (yeast)"", ""origin recognition complex, subunit 1 homolog (S. cerevisiae)"""	ORC1L		8884289	Standard	NM_004153		Approved	HSORC1, PARC1	uc001ctu.3	Q13415	OTTHUMG00000008104	ENST00000371568.3:c.2374G>A	1.37:g.52840499C>T	ENSP00000360623:p.Glu792Lys					ORC1_ENST00000371566.1_Missense_Mutation_p.E792K	p.E792K	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN			16	2592	-			792			Necessary and sufficient for ORC complex assembly.		D3DQ34|Q13471|Q5T0F5	Missense_Mutation	SNP	ENST00000371568.3	37	c.2374G>A	CCDS566.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974238	0.74246	.	.	ENSG00000085840	ENST00000371568;ENST00000371566	T;T	0.49432	0.78;0.78	5.85	4.94	0.65067	CDC6, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72614	0.3482	M	0.87900	2.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.78775	-0.2072	10	0.87932	D	0	-20.0766	14.9421	0.71003	0.0:0.9317:0.0:0.0683	.	787;792	B7Z8H0;Q13415	.;ORC1_HUMAN	K	792	ENSP00000360623:E792K;ENSP00000360621:E792K	ENSP00000360621:E792K	E	-	1	0	ORC1	52613087	1.000000	0.71417	1.000000	0.80357	0.291000	0.27294	7.303000	0.78871	1.481000	0.48307	-0.136000	0.14681	GAA		0.433	ORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022202.1	NM_004153		3	23	0	0	0	1	0	3	23				
LAP3	51056	broad.mit.edu	37	4	17598725	17598725	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr4:17598725G>A	ENST00000226299.4	+	9	1319	c.1045G>A	c.(1045-1047)Gtt>Att	p.V349I	RN7SL315P_ENST00000580348.1_RNA|LAP3_ENST00000606142.1_Missense_Mutation_p.V318I|AC006160.5_ENST00000511010.1_RNA|LAP3_ENST00000503467.1_3'UTR	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	349					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						GCCGGGGGATGTTGTTAGAGC	0.502																																						ENST00000226299.4																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						c.(1045-1047)Gtt>Att		leucine aminopeptidase 3							90.0	81.0	84.0					4																	17598725		2203	4300	6503	SO:0001583	missense	51056				proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding	g.chr4:17598725G>A	AF061738	CCDS3422.1	4p15.33	2012-07-25	2003-09-12		ENSG00000002549	ENSG00000002549	3.4.11.1		18449	protein-coding gene	gene with protein product		170250	"""peptidase S"""	PEPS		6350155, 689684	Standard	NM_015907		Approved	LAPEP, LAP	uc003gph.1	P28838	OTTHUMG00000048214	ENST00000226299.4:c.1045G>A	4.37:g.17598725G>A	ENSP00000226299:p.Val349Ile					AC006160.5_ENST00000511010.1_RNA|LAP3_ENST00000606142.1_Missense_Mutation_p.V318I|LAP3_ENST00000503467.1_3'UTR	p.V349I	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN			9	1319	+			349					B3KMQ3|Q6IAM6|Q6P0L6|Q9UQE3	Missense_Mutation	SNP	ENST00000226299.4	37	c.1045G>A	CCDS3422.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.957244	0.92726	.	.	ENSG00000002549	ENST00000226299	T	0.41758	0.99	4.83	4.83	0.62350	Peptidase M17, leucyl aminopeptidase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.48607	0.1509	L	0.37630	1.12	0.80722	D	1	P	0.51240	0.943	P	0.55455	0.776	T	0.31251	-0.9950	10	0.25751	T	0.34	-23.0837	17.8731	0.88816	0.0:0.0:1.0:0.0	.	349	P28838	AMPL_HUMAN	I	349	ENSP00000226299:V349I	ENSP00000226299:V349I	V	+	1	0	LAP3	17207823	1.000000	0.71417	0.956000	0.39512	0.951000	0.60555	9.405000	0.97313	2.370000	0.80446	0.655000	0.94253	GTT		0.502	LAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250365.1			7	65	0	0	0	1	0	7	65				
FAM114A2	10827	broad.mit.edu	37	5	153382442	153382442	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr5:153382442C>G	ENST00000351797.4	-	10	1157	c.1081G>C	c.(1081-1083)Gaa>Caa	p.E361Q	FAM114A2_ENST00000520667.1_Missense_Mutation_p.E361Q|FAM114A2_ENST00000520313.1_Missense_Mutation_p.E291Q|FAM114A2_ENST00000522858.1_Missense_Mutation_p.E361Q	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	361							purine nucleotide binding (GO:0017076)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						TCAGTATTTTCTGCTTCCGAC	0.383																																						ENST00000351797.4																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						c.(1081-1083)Gaa>Caa		family with sequence similarity 114, member A2							253.0	243.0	246.0					5																	153382442		2203	4300	6503	SO:0001583	missense	10827						purine nucleotide binding	g.chr5:153382442C>G	AF159700	CCDS4323.1	5q31-q33	2008-06-13	2008-06-13	2008-06-13	ENSG00000055147	ENSG00000055147			1333	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 3"""	C5orf3		10843801	Standard	XM_005268359		Approved	133K02	uc003lvc.3	Q9NRY5	OTTHUMG00000130147	ENST00000351797.4:c.1081G>C	5.37:g.153382442C>G	ENSP00000341597:p.Glu361Gln					FAM114A2_ENST00000520667.1_Missense_Mutation_p.E361Q|FAM114A2_ENST00000522858.1_Missense_Mutation_p.E361Q|FAM114A2_ENST00000520313.1_Missense_Mutation_p.E291Q	p.E361Q	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN			10	1157	-			361					B2R8D8|Q9H7E0	Missense_Mutation	SNP	ENST00000351797.4	37	c.1081G>C	CCDS4323.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.379047	0.24944	.	.	ENSG00000055147	ENST00000351797;ENST00000522858;ENST00000520667;ENST00000520313	T;T;T;T	0.19394	2.38;2.38;2.38;2.15	5.03	4.13	0.48395	.	0.710225	0.14145	N	0.338433	T	0.21590	0.0520	L	0.60455	1.87	0.09310	N	1	P;P	0.39717	0.561;0.684	B;B	0.36289	0.116;0.221	T	0.06625	-1.0816	10	0.27082	T	0.32	-0.7961	12.504	0.55972	0.0:0.8312:0.1688:0.0	.	291;361	E7ESJ7;Q9NRY5	.;F1142_HUMAN	Q	361;361;361;291	ENSP00000341597:E361Q;ENSP00000430489:E361Q;ENSP00000430384:E361Q;ENSP00000429088:E291Q	ENSP00000341597:E361Q	E	-	1	0	FAM114A2	153362635	0.020000	0.18652	0.020000	0.16555	0.677000	0.39632	1.465000	0.35299	1.079000	0.41038	0.555000	0.69702	GAA		0.383	FAM114A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252455.1	NM_018691		22	92	0	0	0	1	0	22	92				
FSIP2	401024	broad.mit.edu	37	2	186672165	186672165	+	Silent	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr2:186672165G>T	ENST00000424728.1	+	17	18132	c.18132G>T	c.(18130-18132)ctG>ctT	p.L6044L	FSIP2_ENST00000343098.5_Silent_p.L6133L			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6044										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CCACAGAACTGAATTTCCTTC	0.338																																						ENST00000343098.5																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						c.(18397-18399)ctG>ctT		fibrous sheath interacting protein 2							113.0	112.0	112.0					2																	186672165		1815	4066	5881	SO:0001819	synonymous_variant	401024							g.chr2:186672165G>T	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.18132G>T	2.37:g.186672165G>T						FSIP2_ENST00000424728.1_Silent_p.L6044L	p.L6133L	NM_173651.2	NP_775922.2					17	18399	+								Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Silent	SNP	ENST00000424728.1	37	c.18399G>T																																																																																					0.338	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		11	52	1	0	1.5842e-08	1	1.71574e-08	11	52				
PCDHA6	56142	broad.mit.edu	37	5	140209569	140209569	+	Silent	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr5:140209569C>A	ENST00000529310.1	+	1	2007	c.1893C>A	c.(1891-1893)atC>atA	p.I631I	PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	631	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCGAGATCAGCACCACTC	0.672																																						ENST00000529310.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(1891-1893)atC>atA									70.0	77.0	74.0					5																	140209569		2203	4300	6503	SO:0001819	synonymous_variant	56142							g.chr5:140209569C>A	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1893C>A	5.37:g.140209569C>A						PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	p.I631I	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2007	+								O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.1893C>A	CCDS47281.1																																																																																				0.672	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		18	103	1	0	1.56452e-12	1	1.78463e-12	18	103				
PAGR1	79447	broad.mit.edu	37	16	29827930	29827930	+	Silent	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr16:29827930C>G	ENST00000320330.6	+	1	646	c.84C>G	c.(82-84)ctC>ctG	p.L28L	AC009133.12_ENST00000564980.1_RNA|AC009133.12_ENST00000569809.1_RNA|AC009133.20_ENST00000569039.1_RNA|PAGR1_ENST00000609618.1_Silent_p.L28L			Q9BTK6	PAGR1_HUMAN	PAXIP1 associated glutamate-rich protein 1	28						histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)											CCTCCGGCCTCCAGGCTCTGG	0.687											OREG0023722	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000320330.6																			0											c.(82-84)ctC>ctG		PAXIP1 associated glutamate-rich protein 1							8.0	10.0	9.0					16																	29827930		2176	4274	6450	SO:0001819	synonymous_variant	79447							g.chr16:29827930C>G	BC003640	CCDS10655.1	16p11.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000185928	ENSG00000185928			28707	protein-coding gene	gene with protein product	"""glutamate-rich coactivator interacting with SRC1/NCOA1"", ""PTIP-associated 1 protein"", ""glutamate-rich coactivator associated with SRC1"""	612033	"""chromosome 16 open reading frame 53"""	C16orf53		17500065, 19039327	Standard	NM_024516		Approved	MGC4606, GAS, PA1	uc002dug.4	Q9BTK6	OTTHUMG00000132117	ENST00000320330.6:c.84C>G	16.37:g.29827930C>G			OREG0023722	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	812	AC009133.20_ENST00000569039.1_RNA	p.L28L	NM_024516.3	NP_078792.1					1	646	+								A2ICR6	Silent	SNP	ENST00000320330.6	37	c.84C>G	CCDS10655.1																																																																																				0.687	PAGR1-002	PUTATIVE	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000473165.1	NM_024516		7	9	0	0	0	1	0	7	9				
ULK1	8408	broad.mit.edu	37	12	132399963	132399963	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr12:132399963C>G	ENST00000321867.4	+	18	1957	c.1606C>G	c.(1606-1608)Cca>Gca	p.P536A	ULK1_ENST00000540647.1_5'Flank	NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	536					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		GTCCCCTCGTCCAGGTGGGTG	0.632																																						ENST00000321867.4																			0				breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29						c.(1606-1608)Cca>Gca		unc-51 like autophagy activating kinase 1							23.0	28.0	26.0					12																	132399963		2199	4294	6493	SO:0001583	missense	8408				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity	g.chr12:132399963C>G	AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"""ATG1 autophagy related 1 homolog (S. cerevisiae)"""	603168	"""unc-51 (C. elegans)-like kinase 1"", ""unc-51-like kinase 1 (C. elegans)"""			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.1606C>G	12.37:g.132399963C>G	ENSP00000324560:p.Pro536Ala						p.P536A	NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)	18	1957	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		536					Q9UQ28	Missense_Mutation	SNP	ENST00000321867.4	37	c.1606C>G	CCDS9274.1	.	.	.	.	.	.	.	.	.	.	C	7.565	0.665577	0.14710	.	.	ENSG00000177169	ENST00000321867	T	0.68331	-0.32	4.64	1.52	0.23074	.	0.726153	0.12030	N	0.506017	T	0.54902	0.1887	L	0.43701	1.375	0.49130	D	0.99975	B	0.06786	0.001	B	0.06405	0.002	T	0.38499	-0.9658	10	0.11182	T	0.66	-1.8524	12.3079	0.54912	0.0:0.4911:0.5089:0.0	.	536	O75385	ULK1_HUMAN	A	536	ENSP00000324560:P536A	ENSP00000324560:P536A	P	+	1	0	ULK1	130965916	0.152000	0.22762	0.573000	0.28510	0.258000	0.26162	0.489000	0.22387	0.079000	0.16929	-0.502000	0.04539	CCA		0.632	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397769.3			12	22	0	0	0	1	0	12	22				
RNF123	63891	broad.mit.edu	37	3	49736230	49736230	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr3:49736230G>C	ENST00000327697.6	+	9	757	c.613G>C	c.(613-615)Gat>Cat	p.D205H	RNF123_ENST00000432042.1_Missense_Mutation_p.D59H	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	205	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GATTGACCTGGATGATGGCAC	0.622																																						ENST00000327697.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(613-615)Gat>Cat		ring finger protein 123							91.0	76.0	81.0					3																	49736230		2203	4300	6503	SO:0001583	missense	63891					cytoplasm	ligase activity|protein binding|zinc ion binding	g.chr3:49736230G>C	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.613G>C	3.37:g.49736230G>C	ENSP00000328287:p.Asp205His					RNF123_ENST00000432042.1_Missense_Mutation_p.D59H	p.D205H	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)	9	757	+			205			B30.2/SPRY.		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	c.613G>C	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743728	0.69418	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000432042	T;T	0.64260	-0.09;-0.09	5.04	5.04	0.67666	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.255416	0.37219	N	0.002192	T	0.76622	0.4013	M	0.79258	2.445	0.80722	D	1	D	0.61080	0.989	P	0.58780	0.845	T	0.79022	-0.1973	10	0.52906	T	0.07	-21.1678	17.3028	0.87187	0.0:0.0:1.0:0.0	.	205	Q5XPI4	RN123_HUMAN	H	205;205;59	ENSP00000328287:D205H;ENSP00000392443:D59H	ENSP00000328287:D205H	D	+	1	0	RNF123	49711234	1.000000	0.71417	0.995000	0.50966	0.917000	0.54804	7.333000	0.79214	2.504000	0.84457	0.561000	0.74099	GAT		0.622	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		6	33	0	0	0	1	0	6	33				
MRPS31P5	100887750	broad.mit.edu	37	13	52768470	52768470	+	RNA	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr13:52768470G>T	ENST00000451298.1	-	0	1229				MRPS31P5_ENST00000416599.1_RNA																							AGGGTGGCAGGAAAGGGTGCT	0.567																																						ENST00000451298.1																			0																																																			100887750							g.chr13:52768470G>T																													13.37:g.52768470G>T						RP11-64P12.8_ENST00000606031.1_RNA								0	1229	-									RNA	SNP	ENST00000451298.1	37																																																																																						0.567	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000471093.1			2	0	1	0	0.0784	1	0.0794595	2	0				
OR4Q3	441669	broad.mit.edu	37	14	20216398	20216398	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr14:20216398T>C	ENST00000331723.1	+	1	812	c.812T>C	c.(811-813)aTa>aCa	p.I271T		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTGGATAAGATATTCTCCTTG	0.433																																						ENST00000331723.1																			0				NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47						c.(811-813)aTa>aCa		olfactory receptor, family 4, subfamily Q, member 3							156.0	159.0	158.0					14																	20216398		2203	4300	6503	SO:0001583	missense	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20216398T>C	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.812T>C	14.37:g.20216398T>C	ENSP00000330049:p.Ile271Thr						p.I271T	NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	812	+	all_cancers(95;0.00108)		271					Q6IEX4	Missense_Mutation	SNP	ENST00000331723.1	37	c.812T>C	CCDS32020.1	.	.	.	.	.	.	.	.	.	.	.	7.161	0.585760	0.13749	.	.	ENSG00000182652	ENST00000331723	T	0.00158	8.65	4.35	4.35	0.52113	GPCR, rhodopsin-like superfamily (1);	0.431719	0.16467	U	0.213132	T	0.00144	0.0004	L	0.35723	1.085	0.09310	N	1	B	0.16802	0.019	B	0.16722	0.016	T	0.13737	-1.0498	10	0.20046	T	0.44	.	11.5383	0.50651	0.0:0.0:0.0:1.0	.	271	Q8NH05	OR4Q3_HUMAN	T	271	ENSP00000330049:I271T	ENSP00000330049:I271T	I	+	2	0	OR4Q3	19286238	0.000000	0.05858	0.245000	0.24217	0.629000	0.37895	0.913000	0.28611	1.827000	0.53221	0.411000	0.27672	ATA		0.433	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			14	49	0	0	0	1	0	14	49				
MEGF10	84466	broad.mit.edu	37	5	126754881	126754881	+	Missense_Mutation	SNP	A	A	G	rs79671291		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr5:126754881A>G	ENST00000274473.6	+	12	1642	c.1375A>G	c.(1375-1377)Aaa>Gaa	p.K459E	MEGF10_ENST00000418761.2_Missense_Mutation_p.K459E|MEGF10_ENST00000503335.2_Missense_Mutation_p.K459E|MEGF10_ENST00000508365.1_Missense_Mutation_p.K459E	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	459	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CTGTGGCTGTAAAAATGATGC	0.463																																						ENST00000274473.6																			0				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(1375-1377)Aaa>Gaa		multiple EGF-like-domains 10							255.0	237.0	243.0					5																	126754881		2203	4300	6503	SO:0001583	missense	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126754881A>G	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.1375A>G	5.37:g.126754881A>G	ENSP00000274473:p.Lys459Glu					MEGF10_ENST00000418761.2_Missense_Mutation_p.K459E|MEGF10_ENST00000503335.2_Missense_Mutation_p.K459E|MEGF10_ENST00000508365.1_Missense_Mutation_p.K459E	p.K459E	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	12	1642	+		Prostate(80;0.165)	459			EGF-like 8.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.		Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	c.1375A>G	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	A	12.18	1.861416	0.32884	.	.	ENSG00000145794	ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	5.58	4.42	0.53409	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.063428	0.64402	D	0.000013	T	0.61211	0.2329	N	0.20807	0.61	0.53005	D	0.999963	B;B	0.28208	0.203;0.038	B;B	0.29077	0.098;0.044	T	0.54282	-0.8317	10	0.07325	T	0.83	-5.9788	12.7555	0.57333	0.8513:0.1487:0.0:0.0	.	459;459	Q96KG7-2;Q96KG7	.;MEG10_HUMAN	E	459	ENSP00000423354:K459E;ENSP00000423195:K459E;ENSP00000416284:K459E;ENSP00000274473:K459E	ENSP00000274473:K459E	K	+	1	0	MEGF10	126782780	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.020000	0.57189	1.039000	0.40074	0.533000	0.62120	AAA		0.463	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		23	77	0	0	0	1	0	23	77				
SMAD4	4089	broad.mit.edu	37	18	48603047	48603047	+	Nonsense_Mutation	SNP	C	C	T	rs377767362		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr18:48603047C>T	ENST00000342988.3	+	11	1886	c.1348C>T	c.(1348-1350)Cag>Tag	p.Q450*	SMAD4_ENST00000588745.1_Nonsense_Mutation_p.Q354*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.Q450*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	450	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.Q448fs*20(2)|p.?(2)|p.R441fs*16(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GATGCAGCAGCAGGCGGCTAC	0.468																																						ENST00000342988.3																			41	Whole gene deletion(36)|Deletion - Frameshift(3)|Unknown(2)	p.0?(36)|p.Q448fs*20(2)|p.?(2)|p.R441fs*16(1)	pancreas(27)|large_intestine(5)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(1348-1350)Cag>Tag		SMAD family member 4							42.0	43.0	43.0					18																	48603047		2203	4300	6503	SO:0001587	stop_gained	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48603047C>T	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1348C>T	18.37:g.48603047C>T	ENSP00000341551:p.Gln450*					SMAD4_ENST00000588745.1_Nonsense_Mutation_p.Q354*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.Q450*	p.Q450*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	11	1886	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	450			MH2.		A8K405	Nonsense_Mutation	SNP	ENST00000342988.3	37	c.1348C>T	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	C	43	9.948566	0.99302	.	.	ENSG00000141646	ENST00000342988;ENST00000398417	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.3283	0.94273	0.0:1.0:0.0:0.0	.	.	.	.	X	450	.	ENSP00000341551:Q450X	Q	+	1	0	SMAD4	46857045	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.665000	0.83852	2.861000	0.98227	0.655000	0.94253	CAG		0.468	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		13	25	0	0	0	1	0	13	25				
RSPRY1	89970	broad.mit.edu	37	16	57241994	57241994	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr16:57241994G>T	ENST00000537866.1	+	3	1248	c.375G>T	c.(373-375)atG>atT	p.M125I	RSPRY1_ENST00000394420.4_Missense_Mutation_p.M125I			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	125						extracellular region (GO:0005576)	zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						CCTATTCAATGATAACATTAC	0.294																																						ENST00000537866.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						c.(373-375)atG>atT		ring finger and SPRY domain containing 1							121.0	131.0	127.0					16																	57241994		2198	4299	6497	SO:0001583	missense	89970					extracellular region	zinc ion binding	g.chr16:57241994G>T	AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"""RING-type (C3HC4) zinc fingers"""	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.375G>T	16.37:g.57241994G>T	ENSP00000443176:p.Met125Ile					RSPRY1_ENST00000394420.4_Missense_Mutation_p.M125I	p.M125I			Q96DX4	RSPRY_HUMAN			3	1248	+			125					Q6UX21|Q8ND53	Missense_Mutation	SNP	ENST00000537866.1	37	c.375G>T	CCDS10775.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.841194	0.91197	.	.	ENSG00000159579	ENST00000394420;ENST00000537866	D;D	0.87334	-2.24;-2.24	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.87565	0.6209	M	0.72118	2.19	0.80722	D	1	P	0.46142	0.873	B	0.39904	0.313	D	0.89333	0.3648	10	0.72032	D	0.01	.	19.7815	0.96417	0.0:0.0:1.0:0.0	.	125	Q96DX4	RSPRY_HUMAN	I	125	ENSP00000377942:M125I;ENSP00000443176:M125I	ENSP00000377942:M125I	M	+	3	0	RSPRY1	55799495	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.326000	0.96389	2.746000	0.94184	0.655000	0.94253	ATG		0.294	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432953.1	NM_133368		11	66	1	0	4.36969e-10	1	4.87326e-10	11	66				
TARBP1	6894	broad.mit.edu	37	1	234556462	234556462	+	Missense_Mutation	SNP	G	G	C	rs147943473		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:234556462G>C	ENST00000040877.1	-	21	3540	c.3541C>G	c.(3541-3543)Cct>Gct	p.P1181A		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1181					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TCAAGTCTAGGGAAAAGTACC	0.358													G|||	1	0.000199681	0.0	0.0	5008	,	,		15881	0.0		0.0	False		,,,				2504	0.001					ENST00000040877.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55						c.(3541-3543)Cct>Gct		TAR (HIV-1) RNA binding protein 1		G	ALA/PRO	0,4406		0,0,2203	105.0	112.0	110.0		3541	4.8	1.0	1	dbSNP_134	110	7,8593	5.7+/-21.5	0,7,4293	yes	missense	TARBP1	NM_005646.3	27	0,7,6496	CC,CG,GG		0.0814,0.0,0.0538	possibly-damaging	1181/1622	234556462	7,12999	2203	4300	6503	SO:0001583	missense	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234556462G>C		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.3541C>G	1.37:g.234556462G>C	ENSP00000040877:p.Pro1181Ala						p.P1181A	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		21	3540	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	1181					Q9H581	Missense_Mutation	SNP	ENST00000040877.1	37	c.3541C>G	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231680	0.58777	0.0	8.14E-4	ENSG00000059588	ENST00000040877	T	0.30714	1.52	5.74	4.82	0.62117	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.50956	0.1646	M	0.66939	2.045	0.51012	D	0.999905	D	0.67145	0.996	P	0.60609	0.877	T	0.56220	-0.8015	10	0.72032	D	0.01	-3.8803	15.7454	0.77936	0.0:0.0:0.8621:0.1379	.	1181	Q13395	TARB1_HUMAN	A	1181	ENSP00000040877:P1181A	ENSP00000040877:P1181A	P	-	1	0	TARBP1	232623085	1.000000	0.71417	0.979000	0.43373	0.669000	0.39330	8.451000	0.90343	1.407000	0.46875	-0.188000	0.12872	CCT		0.358	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		4	44	0	0	0	1	0	4	44				
TCTE3	6991	broad.mit.edu	37	6	170143280	170143280	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr6:170143280C>T	ENST00000366774.3	-	3	482	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K		NM_174910.1	NP_777570.1	Q8IZS6	TC1D3_HUMAN	t-complex-associated-testis-expressed 3	128					transport (GO:0006810)	cytoplasm (GO:0005737)|dynein complex (GO:0030286)|membrane (GO:0016020)|microtubule (GO:0005874)	motor activity (GO:0003774)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|prostate(1)	4		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;1.08e-21)|BRCA - Breast invasive adenocarcinoma(81;1.32e-07)|GBM - Glioblastoma multiforme(31;0.00157)		TCTGCCAATTCAAGTGACAAG	0.294																																						ENST00000366774.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|prostate(1)	4						c.(382-384)Gaa>Aaa		t-complex-associated-testis-expressed 3							78.0	83.0	81.0					6																	170143280		2203	4299	6502	SO:0001583	missense	6991				transport	cytoplasm|dynein complex|membrane|microtubule	motor activity	g.chr6:170143280C>T	AF519569	CCDS5310.1	6q27	2014-06-03			ENSG00000184786	ENSG00000184786			11695	protein-coding gene	gene with protein product	"""Tctex1 domain containing 3"""	186977				1505969, 12584439	Standard	NM_174910		Approved	TCTEX1D3	uc003qxe.1	Q8IZS6	OTTHUMG00000016068	ENST00000366774.3:c.382G>A	6.37:g.170143280C>T	ENSP00000355736:p.Glu128Lys						p.E128K	NM_174910.1	NP_777570.1	Q8IZS6	TC1D3_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.08e-21)|BRCA - Breast invasive adenocarcinoma(81;1.32e-07)|GBM - Glioblastoma multiforme(31;0.00157)	3	482	-		Breast(66;0.000338)	128						Missense_Mutation	SNP	ENST00000366774.3	37	c.382G>A	CCDS5310.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.747125	0.30955	.	.	ENSG00000184786	ENST00000366774	T	0.30448	1.53	5.37	3.42	0.39159	.	0.355474	0.27437	N	0.019378	T	0.12987	0.0315	L	0.39245	1.2	0.34569	D	0.713256	B	0.22983	0.078	B	0.25614	0.062	T	0.06180	-1.0841	10	0.35671	T	0.21	-20.4693	12.995	0.58642	0.0:0.69:0.3099:0.0	.	128	Q8IZS6	TC1D3_HUMAN	K	128	ENSP00000355736:E128K	ENSP00000355736:E128K	E	-	1	0	TCTE3	169885205	0.622000	0.27085	1.000000	0.80357	0.235000	0.25334	0.821000	0.27338	1.362000	0.46000	0.655000	0.94253	GAA		0.294	TCTE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043243.1	NM_174910		7	40	0	0	0	1	0	7	40				
PCDHA1	56147	broad.mit.edu	37	5	140167367	140167367	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr5:140167367C>T	ENST00000504120.2	+	1	1492	c.1492C>T	c.(1492-1494)Cgg>Tgg	p.R498W	PCDHA1_ENST00000378133.3_Missense_Mutation_p.R498W|PCDHA1_ENST00000394633.3_Missense_Mutation_p.R498W	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	498	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R498W(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGAACGGCGGGTGGGCGA	0.672																																						ENST00000504120.2																			2	Substitution - Missense(2)	p.R498W(2)	lung(2)	breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(1492-1494)Cgg>Tgg									61.0	66.0	64.0					5																	140167367		2203	4299	6502	SO:0001583	missense	56147							g.chr5:140167367C>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1492C>T	5.37:g.140167367C>T	ENSP00000420840:p.Arg498Trp					PCDHA1_ENST00000394633.3_Missense_Mutation_p.R498W|PCDHA1_ENST00000378133.3_Missense_Mutation_p.R498W	p.R498W	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1492	+								O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.1492C>T	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	c	11.23	1.576954	0.28092	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.52526	0.66;0.66;0.66	3.63	1.71	0.24356	Cadherin (4);Cadherin-like (1);	0.211342	0.23204	U	0.050746	T	0.27524	0.0676	L	0.41236	1.265	0.09310	N	1	P;B;P	0.41748	0.639;0.26;0.761	B;B;B	0.29663	0.081;0.019;0.105	T	0.23547	-1.0185	10	0.62326	D	0.03	.	3.966	0.09431	0.3402:0.4751:0.0:0.1846	.	498;498;498	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	W	498	ENSP00000420840:R498W;ENSP00000378129:R498W;ENSP00000367373:R498W	ENSP00000367373:R498W	R	+	1	2	PCDHA1	140147551	0.007000	0.16637	0.993000	0.49108	0.653000	0.38743	-1.178000	0.03093	0.146000	0.19002	-0.233000	0.12211	CGG		0.672	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		36	95	0	0	0	1	0	36	95				
ID2	3398	broad.mit.edu	37	2	8822472	8822472	+	Silent	SNP	G	G	A	rs149826728	byFrequency	TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr2:8822472G>A	ENST00000234091.4	+	3	1037	c.177G>A	c.(175-177)gtG>gtA	p.V59V	AC011747.7_ENST00000455965.1_RNA|ID2_ENST00000396290.1_Silent_p.V59V|ID2_ENST00000331129.3_Silent_p.V59V			Q02363	ID2_HUMAN	inhibitor of DNA binding 2, dominant negative helix-loop-helix protein	59	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				adipose tissue development (GO:0060612)|bundle of His development (GO:0003166)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|embryonic digestive tract morphogenesis (GO:0048557)|endodermal digestive tract morphogenesis (GO:0061031)|entrainment of circadian clock by photoperiod (GO:0043153)|enucleate erythrocyte differentiation (GO:0043353)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|locomotor rhythm (GO:0045475)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|membranous septum morphogenesis (GO:0003149)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|natural killer cell differentiation (GO:0001779)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of DNA binding (GO:0043392)|negative regulation of gene expression (GO:0010629)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate commitment (GO:0048663)|olfactory bulb development (GO:0021772)|oligodendrocyte development (GO:0014003)|Peyer's patch development (GO:0048541)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of blood pressure (GO:0045777)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of lipid metabolic process (GO:0019216)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|protein complex (GO:0043234)	ion channel binding (GO:0044325)			breast(1)|large_intestine(1)|lung(1)|prostate(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACAAGAAGGTGAGCAAGATGG	0.547													G|||	4	0.000798722	0.0008	0.0014	5008	,	,		20864	0.001		0.0	False		,,,				2504	0.001					ENST00000234091.4																			0				breast(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(175-177)gtG>gtA		inhibitor of DNA binding 2, dominant negative helix-loop-helix protein		G		2,4404	4.2+/-10.8	0,2,2201	80.0	76.0	77.0		177	3.6	1.0	2	dbSNP_134	77	0,8600		0,0,4300	no	coding-synonymous	ID2	NM_002166.4		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		59/135	8822472	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3398				cellular senescence|embryonic digestive tract morphogenesis|endodermal digestive tract morphogenesis|epithelial cell differentiation involved in mammary gland alveolus development|mammary gland epithelial cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of neuron differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|neuron fate commitment|positive regulation of blood pressure|positive regulation of cell cycle arrest|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent	protein complex	protein binding	g.chr2:8822472G>A		CCDS1659.1	2p25	2013-05-21			ENSG00000115738	ENSG00000115738		"""Basic helix-loop-helix proteins"""	5361	protein-coding gene	gene with protein product	"""cell growth-inhibiting gene 8"""	600386				8294468	Standard	NM_002166		Approved	GIG8, bHLHb26	uc002qza.3	Q02363	OTTHUMG00000112454	ENST00000234091.4:c.177G>A	2.37:g.8822472G>A						ID2_ENST00000396290.1_Silent_p.V59V|ID2_ENST00000331129.3_Silent_p.V59V	p.V59V			Q02363	ID2_HUMAN			3	1037	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		59			Helix-loop-helix motif.			Silent	SNP	ENST00000234091.4	37	c.177G>A	CCDS1659.1																																																																																				0.547	ID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000231925.2	NM_002166		21	57	0	0	0	1	0	21	57				
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr17:7578394T>C	ENST00000269305.4	-	5	725	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000420246.2_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR	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	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; 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.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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)	GCAGCGCTCATGGTGGGGGCA	0.642		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"""		217	Substitution - Missense(166)|Deletion - In frame(24)|Deletion - Frameshift(18)|Whole gene deletion(8)|Complex - deletion inframe(1)	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)	lung(35)|breast(32)|large_intestine(29)|upper_aerodigestive_tract(26)|oesophagus(21)|ovary(21)|central_nervous_system(16)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(6)|pancreas(6)|liver(5)|bone(4)|biliary_tract(3)|cervix(1)|stomach(1)|endometrium(1)|salivary_gland(1)|skin(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.(535-537)cAt>cGt	Other conserved DNA damage response genes	tumor protein p53							47.0	47.0	47.0					17																	7578394		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.chr17:7578394T>C	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.536A>G	17.37:g.7578394T>C	ENSP00000269305:p.His179Arg	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_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000269305.4_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR	p.H179R	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)	5	668	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	179		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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.536A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.694391	0.88830	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99917	0.9961	M	0.92507	3.315	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.989;1.0;0.985;1.0;0.995;1.0;0.996	D;D;D;D;D;D;D	0.97110	0.929;0.996;0.912;1.0;0.985;0.995;0.937	D	0.95874	0.8893	10	0.87932	D	0	-15.4889	13.8032	0.63214	0.0:0.0:0.0:1.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179R;ENSP00000352610:H179R;ENSP00000269305:H179R;ENSP00000398846:H179R;ENSP00000391127:H179R;ENSP00000391478:H179R;ENSP00000425104:H47R;ENSP00000423862:H86R	ENSP00000269305:H179R	H	-	2	0	TP53	7519119	1.000000	0.71417	0.945000	0.38365	0.856000	0.48823	6.263000	0.72521	2.208000	0.71279	0.460000	0.39030	CAT		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		19	40	0	0	0	1	0	19	40				
NFYC	4802	broad.mit.edu	37	1	41213250	41213250	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:41213250G>A	ENST00000308733.5	+	2	156	c.150G>A	c.(148-150)aaG>aaA	p.K50K	NFYC_ENST00000447388.3_Silent_p.K50K|NFYC_ENST00000425457.2_Silent_p.K50K|NFYC_ENST00000440226.3_Silent_p.K50K|NFYC_ENST00000372652.1_Silent_p.K50K|NFYC_ENST00000427410.2_Silent_p.K50K|NFYC_ENST00000372651.1_Silent_p.K50K|NFYC_ENST00000456393.2_Silent_p.K50K|NFYC_ENST00000372654.1_Silent_p.K50K|NFYC_ENST00000372653.1_Silent_p.K50K			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	50					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			GTATTAAGAAGATTATGAAAC	0.378																																						ENST00000372652.1																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15						c.(148-150)aaG>aaA		nuclear transcription factor Y, gamma							95.0	88.0	90.0					1																	41213250		2203	4300	6503	SO:0001819	synonymous_variant	4802				protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:41213250G>A	U78774	CCDS455.1, CCDS44120.1, CCDS44121.1, CCDS44122.1, CCDS44123.1	1p32	2008-11-11			ENSG00000066136	ENSG00000066136			7806	protein-coding gene	gene with protein product		605344				8921405, 9249075	Standard	NM_014223		Approved	CBF-C, NF-YC	uc009vwd.3	Q13952	OTTHUMG00000007729	ENST00000308733.5:c.150G>A	1.37:g.41213250G>A						NFYC_ENST00000308733.5_Silent_p.K50K|NFYC_ENST00000440226.3_Silent_p.K50K|NFYC_ENST00000425457.2_Silent_p.K50K|NFYC_ENST00000447388.3_Silent_p.K50K|NFYC_ENST00000427410.2_Silent_p.K50K|NFYC_ENST00000372651.1_Silent_p.K50K|NFYC_ENST00000372653.1_Silent_p.K50K|NFYC_ENST00000372654.1_Silent_p.K50K|NFYC_ENST00000456393.2_Silent_p.K50K	p.K50K			Q13952	NFYC_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)		3	418	+	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	50					B4DUS6|B4DW63|D3DPV9|F8VWM3|Q59GY4|Q5T6K8|Q5T6K9|Q5T6L1|Q5TZR6|Q92869|Q9HBX1|Q9NXB5|Q9UM67|Q9UML0|Q9UMT7	Silent	SNP	ENST00000308733.5	37	c.150G>A																																																																																					0.378	NFYC-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000020802.1	NM_014223		5	19	0	0	0	1	0	5	19				
OCA2	4948	broad.mit.edu	37	15	28234814	28234814	+	Splice_Site	SNP	T	T	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr15:28234814T>A	ENST00000354638.3	-	11	1272		c.e11-2		OCA2_ENST00000353809.5_Splice_Site|OCA2_ENST00000382996.2_Splice_Site	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II						cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GCTGGGTCTCTGCAATCAAAG	0.572									Oculocutaneous Albinism																													ENST00000354638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.e11-2		oculocutaneous albinism II							119.0	97.0	104.0					15																	28234814		2203	4300	6503	SO:0001630	splice_region_variant	4948	Oculocutaneous Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28234814T>A		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1117-2A>T	15.37:g.28234814T>A						OCA2_ENST00000382996.2_Splice_Site|OCA2_ENST00000353809.5_Splice_Site		NM_000275.2	NP_000266.2	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	11	1272	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)						Q15211|Q15212|Q96EN1|Q9UMI5	Splice_Site	SNP	ENST00000354638.3	37		CCDS10020.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.514584	0.85389	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.037	0.64651	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	OCA2	25908409	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.070000	0.76763	2.085000	0.62840	0.533000	0.62120	.		0.572	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275	Intron	7	30	0	0	0	1	0	7	30				
SEMA4C	54910	broad.mit.edu	37	2	97527623	97527623	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr2:97527623G>A	ENST00000305476.5	-	13	1584	c.1452C>T	c.(1450-1452)ctC>ctT	p.L484L		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	484	Dominant negative effect on myogenic differentiation. {ECO:0000250}.|Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell migration in hindbrain (GO:0021535)|cerebellum development (GO:0021549)|muscle cell differentiation (GO:0042692)|neural tube closure (GO:0001843)|positive regulation of stress-activated MAPK cascade (GO:0032874)|semaphorin-plexin signaling pathway (GO:0071526)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle membrane (GO:0030672)	receptor activity (GO:0004872)			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						AGCCGGCAAAGAGCAGCTTCT	0.682																																						ENST00000305476.5																			0				NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						c.(1450-1452)ctC>ctT		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C							10.0	10.0	10.0					2																	97527623		2170	4262	6432	SO:0001819	synonymous_variant	54910				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity	g.chr2:97527623G>A	AB051526	CCDS2029.1	2q11.2	2013-01-11			ENSG00000168758	ENSG00000168758		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10731	protein-coding gene	gene with protein product	"""M-Sema F"""	604462		SEMAI		7656991	Standard	NM_017789		Approved	Semacl1, Semaf	uc002sxh.4	Q9C0C4	OTTHUMG00000130535	ENST00000305476.5:c.1452C>T	2.37:g.97527623G>A							p.L484L	NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN			13	1584	-			484			Dominant negative effect on myogenic differentiation (By similarity).|Sema.		Q32MJ3|Q7Z5X0	Silent	SNP	ENST00000305476.5	37	c.1452C>T	CCDS2029.1																																																																																				0.682	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252957.1	NM_017789		4	17	0	0	0	1	0	4	17				
DNAJC4	3338	broad.mit.edu	37	11	64001429	64001429	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr11:64001429C>A	ENST00000321685.3	+	6	1056	c.591C>A	c.(589-591)taC>taA	p.Y197*	VEGFB_ENST00000309422.2_5'Flank|RP11-783K16.14_ENST00000539963.1_RNA|VEGFB_ENST00000426086.2_5'Flank|DNAJC4_ENST00000321460.5_Nonsense_Mutation_p.Y198*|RP11-783K16.14_ENST00000534988.1_RNA|DNAJC4_ENST00000355040.4_3'UTR	NM_005528.3	NP_005519.2	Q9NNZ3	DNJC4_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 4	197					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	unfolded protein binding (GO:0051082)			endometrium(1)|lung(1)|prostate(1)	3						CAGCCTTCTACAACGAAGCCC	0.542																																						ENST00000321685.3																			0				endometrium(1)|lung(1)|prostate(1)	3						c.(589-591)taC>taA		DnaJ (Hsp40) homolog, subfamily C, member 4							110.0	120.0	116.0					11																	64001429		1997	4151	6148	SO:0001587	stop_gained	3338				protein folding|response to unfolded protein	integral to membrane|membrane fraction	heat shock protein binding|unfolded protein binding	g.chr11:64001429C>A	AF012106	CCDS41666.1	11q13	2011-09-02			ENSG00000110011	ENSG00000110011		"""Heat shock proteins / DNAJ (HSP40)"""	5271	protein-coding gene	gene with protein product		604189		HSPF2		9473517, 11147971	Standard	NM_005528		Approved	MCG18	uc001nys.3	Q9NNZ3	OTTHUMG00000167792	ENST00000321685.3:c.591C>A	11.37:g.64001429C>A	ENSP00000396896:p.Tyr197*					RP11-783K16.14_ENST00000539963.1_RNA|DNAJC4_ENST00000321460.5_Nonsense_Mutation_p.Y198*|DNAJC4_ENST00000355040.4_3'UTR|RP11-783K16.14_ENST00000534988.1_RNA	p.Y197*	NM_005528.3	NP_005519.2	Q9NNZ3	DNJC4_HUMAN			6	1056	+			197					O14716	Nonsense_Mutation	SNP	ENST00000321685.3	37	c.591C>A	CCDS41666.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	10.91|10.91	1.484098|1.484098	0.26598|0.26598	.|.	.|.	ENSG00000110011|ENSG00000110011	ENST00000535246|ENST00000321685;ENST00000321460	.|.	.|.	.|.	4.37|4.37	3.45|3.45	0.39498|0.39498	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.28267|.	0.0698|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.14587|.	-1.0467|.	4|.	.|0.02654	.|T	.|1	-20.5102|-20.5102	8.1549|8.1549	0.31162|0.31162	0.0:0.8899:0.0:0.1101|0.0:0.8899:0.0:0.1101	.|.	.|.	.|.	.|.	K|X	135|197;198	.|.	.|ENSP00000320548:Y198X	T|Y	+|+	2|3	0|2	DNAJC4|DNAJC4	63758005|63758005	1.000000|1.000000	0.71417|0.71417	0.940000|0.940000	0.37924|0.37924	0.018000|0.018000	0.09664|0.09664	2.671000|2.671000	0.46842|0.46842	1.191000|1.191000	0.43056|0.43056	0.639000|0.639000	0.83563|0.83563	ACA|TAC		0.542	DNAJC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396305.1			8	112	1	0	0.000442599	1	0.000459446	8	112				
ANK2	287	broad.mit.edu	37	4	114274830	114274830	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr4:114274830G>A	ENST00000357077.4	+	38	5109	c.5056G>A	c.(5056-5058)Gag>Aag	p.E1686K	ANK2_ENST00000264366.6_Missense_Mutation_p.E1653K|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1686					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACCCCCAGATGAGACACAGAG	0.443																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(5056-5058)Gag>Aag		ankyrin 2, neuronal							59.0	63.0	61.0					4																	114274830		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114274830G>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.5056G>A	4.37:g.114274830G>A	ENSP00000349588:p.Glu1686Lys					ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.E1653K	p.E1686K	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	5109	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1653					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.5056G>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	4.812	0.151033	0.09185	.	.	ENSG00000145362	ENST00000503423;ENST00000504454;ENST00000357077;ENST00000264366	T;T;T;T	0.67698	-0.02;-0.16;-0.26;-0.28	5.51	4.66	0.58398	.	0.357482	0.23508	N	0.047431	T	0.55130	0.1901	L	0.50333	1.59	0.18873	N	0.999987	B;B	0.09022	0.001;0.002	B;B	0.09377	0.002;0.004	T	0.39057	-0.9632	10	0.06891	T	0.86	.	12.0502	0.53503	0.0788:0.0:0.9212:0.0	.	1653;1686	Q01484;Q01484-4	ANK2_HUMAN;.	K	1599;1701;1686;1653	ENSP00000421011:E1599K;ENSP00000424722:E1701K;ENSP00000349588:E1686K;ENSP00000264366:E1653K	ENSP00000264366:E1653K	E	+	1	0	ANK2	114494279	1.000000	0.71417	0.040000	0.18447	0.374000	0.29953	4.016000	0.57159	2.581000	0.87130	0.655000	0.94253	GAG		0.443	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		6	45	0	0	0	1	0	6	45				
CORO1B	57175	broad.mit.edu	37	11	67209167	67209167	+	Intron	SNP	T	T	G	rs369518009|rs540646391	byFrequency	TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr11:67209167T>G	ENST00000341356.5	-	4	565				CORO1B_ENST00000393893.1_Intron|CORO1B_ENST00000545016.1_Missense_Mutation_p.H164P|CORO1B_ENST00000453768.2_Intron|CORO1B_ENST00000539724.1_5'Flank	NM_020441.2	NP_065174.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B						actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|endothelial cell chemotaxis (GO:0035767)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|positive regulation of lamellipodium morphogenesis (GO:2000394)|protein localization to cell leading edge (GO:1902463)|ruffle organization (GO:0031529)|wound healing (GO:0042060)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|identical protein binding (GO:0042802)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GAGGGGTCCGTGGGGGGGGGG	0.657																																						ENST00000545016.1																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13						c.(490-492)cAc>cCc		coronin, actin binding protein, 1B							6.0	8.0	7.0					11																	67209167		2028	4045	6073	SO:0001627	intron_variant	57175				actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding	g.chr11:67209167T>G	AK000860	CCDS8164.1	11q13.1	2013-01-10	2001-11-28		ENSG00000172725	ENSG00000172725		"""Coronins"", ""WD repeat domain containing"""	2253	protein-coding gene	gene with protein product		609849	"""coronin, actin-binding protein, 1B"""			9778037	Standard	NM_001018070		Approved	coronin-2	uc001olk.1	Q9BR76	OTTHUMG00000167775	ENST00000341356.5:c.454+36A>C	11.37:g.67209167T>G						CORO1B_ENST00000393893.1_Intron|CORO1B_ENST00000341356.5_Intron|CORO1B_ENST00000453768.2_Intron	p.H164P			Q9BR76	COR1B_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		4	576	-			0					B2RD45	Missense_Mutation	SNP	ENST00000341356.5	37	c.491A>C	CCDS8164.1	.	.	.	.	.	.	.	.	.	.	t	0.003	-2.560575	0.00136	.	.	ENSG00000172725	ENST00000545016	T	0.76968	-1.06	0.266	-0.532	0.11890	.	.	.	.	.	T	0.61689	0.2367	.	.	.	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.46219	-0.9207	7	0.62326	D	0.03	.	.	.	.	.	164	F5H0D2	.	P	164	ENSP00000438056:H164P	ENSP00000438056:H164P	H	-	2	0	CORO1B	66965743	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.844000	0.04345	-1.738000	0.01348	-1.699000	0.00722	CAC		0.657	CORO1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396220.1	NM_020441		4	13	0	0	0	1	0	4	13				
PLPPR4	9890	broad.mit.edu	37	1	99772192	99772192	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:99772192G>A	ENST00000370185.3	+	7	2415	c.1918G>A	c.(1918-1920)Gaa>Aaa	p.E640K	LPPR4_ENST00000457765.1_Missense_Mutation_p.E582K|LPPR4_ENST00000370184.1_Missense_Mutation_p.E482K	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		640					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CCCGTCCACTGAAGGTGAAGG	0.537																																						ENST00000370185.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72						c.(1918-1920)Gaa>Aaa									76.0	75.0	75.0					1																	99772192		2203	4300	6503	SO:0001583	missense	9890						phosphatidate phosphatase activity	g.chr1:99772192G>A																												ENST00000370185.3:c.1918G>A	1.37:g.99772192G>A	ENSP00000359204:p.Glu640Lys					LPPR4_ENST00000370184.1_Missense_Mutation_p.E482K|LPPR4_ENST00000457765.1_Missense_Mutation_p.E582K	p.E640K	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	2415	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	640					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.1918G>A	CCDS757.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.954207	0.73902	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000370184	T;T;T	0.23754	2.46;2.47;1.89	5.9	5.9	0.94986	.	0.206543	0.43919	D	0.000519	T	0.13670	0.0331	N	0.22421	0.69	0.80722	D	1	P;P	0.37500	0.597;0.462	B;B	0.40285	0.325;0.121	T	0.05750	-1.0866	9	.	.	.	-29.4613	20.2822	0.98520	0.0:0.0:1.0:0.0	.	582;640	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	K	640;582;482	ENSP00000359204:E640K;ENSP00000394913:E582K;ENSP00000359203:E482K	.	E	+	1	0	RP4-788L13.1	99544780	1.000000	0.71417	0.991000	0.47740	0.965000	0.64279	6.669000	0.74462	2.806000	0.96561	0.655000	0.94253	GAA		0.537	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			12	32	0	0	0	1	0	12	32				
FAM160B1	57700	broad.mit.edu	37	10	116605222	116605222	+	Silent	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr10:116605222C>T	ENST00000369248.4	+	8	1445	c.1110C>T	c.(1108-1110)ctC>ctT	p.L370L	FAM160B1_ENST00000369250.3_Silent_p.L370L	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	370										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						GTGATCAGCTCATTAAGGAAG	0.308																																						ENST00000369248.4																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						c.(1108-1110)ctC>ctT		family with sequence similarity 160, member B1							98.0	91.0	93.0					10																	116605222		2203	4300	6503	SO:0001819	synonymous_variant	57700							g.chr10:116605222C>T	AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"""KIAA1600"""	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.1110C>T	10.37:g.116605222C>T						FAM160B1_ENST00000369250.3_Silent_p.L370L	p.L370L	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN			8	1445	+			370					Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Silent	SNP	ENST00000369248.4	37	c.1110C>T	CCDS31290.1																																																																																				0.308	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050499.1	XM_049351		6	15	0	0	0	1	0	6	15				
SYT6	148281	broad.mit.edu	37	1	114682285	114682285	+	Missense_Mutation	SNP	C	C	T	rs138691067		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:114682285C>T	ENST00000610222.1	-	2	610	c.464G>A	c.(463-465)cGt>cAt	p.R155H	SYT6_ENST00000393296.1_Missense_Mutation_p.R155H|SYT6_ENST00000609117.1_Missense_Mutation_p.R70H|SYT6_ENST00000607941.1_Missense_Mutation_p.R70H|SYT6_ENST00000369547.1_Missense_Mutation_p.R70H			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	155					acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)	p.R70H(1)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCGGGTGTGACGCATGATGTG	0.622																																						ENST00000393296.1																			1	Substitution - Missense(1)	p.R70H(1)	large_intestine(1)	central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(463-465)cGt>cAt		synaptotagmin VI		C	HIS/ARG	0,4406		0,0,2203	101.0	80.0	87.0		209	5.5	1.0	1	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	missense	SYT6	NM_205848.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	70/426	114682285	1,13005	2203	4300	6503	SO:0001583	missense	148281				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	g.chr1:114682285C>T		CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"""Synaptotagmins"""	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.464G>A	1.37:g.114682285C>T	ENSP00000476396:p.Arg155His					SYT6_ENST00000369547.1_Missense_Mutation_p.R70H	p.R155H			Q5T7P8	SYT6_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	541	-	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)	155					B1AMB8|B3KPK1	Missense_Mutation	SNP	ENST00000610222.1	37	c.464G>A		.	.	.	.	.	.	.	.	.	.	C	16.36	3.101911	0.56183	0.0	1.16E-4	ENSG00000134207	ENST00000369547;ENST00000393296;ENST00000369546;ENST00000369545;ENST00000425037;ENST00000447981	T;T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;1.47;0.9	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.32615	0.0835	L	0.31207	0.915	0.80722	D	1	B	0.13594	0.008	B	0.14023	0.01	T	0.17349	-1.0372	10	0.17832	T	0.49	.	19.3929	0.94592	0.0:1.0:0.0:0.0	.	155	Q5T7P8	SYT6_HUMAN	H	70;155;70;155;70;70	ENSP00000358560:R70H;ENSP00000376974:R155H;ENSP00000358559:R70H;ENSP00000358558:R155H;ENSP00000412443:R70H;ENSP00000389266:R70H	ENSP00000358558:R155H	R	-	2	0	SYT6	114483808	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.071000	0.57556	2.583000	0.87209	0.655000	0.94253	CGT		0.622	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000314819.2	NM_205848		21	26	0	0	0	1	0	21	26				
MAP3K4	4216	broad.mit.edu	37	6	161455314	161455314	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr6:161455314C>T	ENST00000392142.4	+	2	324	c.176C>T	c.(175-177)tCa>tTa	p.S59L	MAP3K4_ENST00000348824.7_Missense_Mutation_p.S59L|MAP3K4_ENST00000366919.2_Missense_Mutation_p.S59L|MAP3K4_ENST00000366920.2_Missense_Mutation_p.S59L	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	59					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TTGGGAGATTCAGCTTGCAAG	0.398																																						ENST00000392142.4																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77						c.(175-177)tCa>tTa		mitogen-activated protein kinase kinase kinase 4							82.0	77.0	79.0					6																	161455314		2203	4300	6503	SO:0001583	missense	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161455314C>T	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.176C>T	6.37:g.161455314C>T	ENSP00000375986:p.Ser59Leu					MAP3K4_ENST00000348824.7_Missense_Mutation_p.S59L|MAP3K4_ENST00000366919.2_Missense_Mutation_p.S59L|MAP3K4_ENST00000366920.2_Missense_Mutation_p.S59L	p.S59L	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	2	324	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	59					A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	c.176C>T	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.230630	0.39399	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824;ENST00000544209	T;T;T;T	0.70986	-0.52;-0.53;-0.53;-0.52	5.49	2.11	0.27256	.	1.347570	0.05360	N	0.533432	T	0.30103	0.0754	N	0.22421	0.69	0.09310	N	1	B;B	0.15473	0.013;0.008	B;B	0.15484	0.013;0.006	T	0.19031	-1.0318	10	0.10636	T	0.68	-2.4447	6.9832	0.24713	0.0:0.6263:0.1378:0.2359	.	59;59	Q9Y6R4-2;Q9Y6R4	.;M3K4_HUMAN	L	59;59;59;59;59;38	ENSP00000355886:S59L;ENSP00000375986:S59L;ENSP00000355887:S59L;ENSP00000297332:S59L	ENSP00000297332:S59L	S	+	2	0	MAP3K4	161375304	0.005000	0.15991	0.000000	0.03702	0.096000	0.18686	0.641000	0.24720	0.749000	0.32854	0.558000	0.71614	TCA		0.398	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			12	38	0	0	0	1	0	12	38				
KLHL17	339451	broad.mit.edu	37	1	900541	900541	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:900541G>A	ENST00000338591.3	+	12	2006	c.1899G>A	c.(1897-1899)ccG>ccA	p.P633P	PLEKHN1_ENST00000379407.3_5'Flank|PLEKHN1_ENST00000379409.2_5'Flank|PLEKHN1_ENST00000379410.3_5'Flank	NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	633	Interaction with F-actin. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|dendrite cytoplasm (GO:0032839)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein complex scaffold (GO:0032947)			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CATCCTCCCCGACGCTGTCCG	0.667																																						ENST00000338591.3																			0				central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(1897-1899)ccG>ccA		kelch-like family member 17							52.0	41.0	45.0					1																	900541		2197	4291	6488	SO:0001819	synonymous_variant	339451				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold	g.chr1:900541G>A	AY423763	CCDS30550.1	1p36	2013-01-30	2013-01-30		ENSG00000187961	ENSG00000187961		"""Kelch-like"", ""BTB/POZ domain containing"""	24023	protein-coding gene	gene with protein product	"""actinfilin"""		"""kelch-like 17 (Drosophila)"""			12063253	Standard	NM_198317		Approved		uc001aca.2	Q6TDP4	OTTHUMG00000040721	ENST00000338591.3:c.1899G>A	1.37:g.900541G>A							p.P633P	NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	12	2006	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	633			Interaction with F-actin (By similarity).		Q5SV94	Silent	SNP	ENST00000338591.3	37	c.1899G>A	CCDS30550.1																																																																																				0.667	KLHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097875.3	NM_198317		19	39	0	0	0	1	0	19	39				
ELMO1	9844	broad.mit.edu	37	7	36895204	36895204	+	Silent	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr7:36895204C>T	ENST00000310758.4	-	22	2783	c.2136G>A	c.(2134-2136)ccG>ccA	p.P712P	ELMO1_ENST00000341056.3_Silent_p.P414P|ELMO1_ENST00000396040.2_Silent_p.P232P|ELMO1_ENST00000442504.1_Silent_p.P712P|ELMO1_ENST00000448602.1_Silent_p.P712P|ELMO1_ENST00000396045.3_Silent_p.P232P	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	712					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CCTTGGGAATCGGCGGAGGTG	0.567																																						ENST00000310758.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						c.(2134-2136)ccG>ccA		engulfment and cell motility 1							120.0	121.0	121.0					7																	36895204		2203	4300	6503	SO:0001819	synonymous_variant	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:36895204C>T	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.2136G>A	7.37:g.36895204C>T						ELMO1_ENST00000448602.1_Silent_p.P712P|ELMO1_ENST00000442504.1_Silent_p.P712P|ELMO1_ENST00000396040.2_Silent_p.P232P|ELMO1_ENST00000341056.3_Silent_p.P414P|ELMO1_ENST00000396045.3_Silent_p.P232P	p.P712P	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN			22	2783	-			712					A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Silent	SNP	ENST00000310758.4	37	c.2136G>A	CCDS5449.1																																																																																				0.567	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		14	73	0	0	0	1	0	14	73				
SART3	9733	broad.mit.edu	37	12	108920071	108920071	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr12:108920071G>A	ENST00000228284.3	-	16	2409	c.2175C>T	c.(2173-2175)ctC>ctT	p.L725L	SART3_ENST00000431469.2_Silent_p.L689L	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	725	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell morphogenesis (GO:0000902)|hematopoietic stem cell proliferation (GO:0071425)|homeostasis of number of cells (GO:0048872)|regulation of gene expression (GO:0010468)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						AGGCCTCGAAGAGTGGCCTGA	0.567									Porokeratosis																													ENST00000228284.3																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						c.(2173-2175)ctC>ctT		squamous cell carcinoma antigen recognized by T cells 3							100.0	84.0	90.0					12																	108920071		2203	4300	6503	SO:0001819	synonymous_variant	9733	Porokeratosis	Familial Cancer Database	incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis	RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr12:108920071G>A	AB020880	CCDS9117.1	12q24.11	2013-02-12	2006-12-07			ENSG00000075856		"""RNA binding motif (RRM) containing"""	16860	protein-coding gene	gene with protein product		611684	"""squamous cell carcinoma antigen recognised by T cells 3"""			12032085, 15840095, 20595234	Standard	NM_014706		Approved	KIAA0156, RP11-13G14, TIP110, p110	uc001tmz.1	Q15020	OTTHUMG00000169449	ENST00000228284.3:c.2175C>T	12.37:g.108920071G>A						SART3_ENST00000431469.2_Silent_p.L689L	p.L725L	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN			16	2409	-			725			RRM 1.		A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	Silent	SNP	ENST00000228284.3	37	c.2175C>T	CCDS9117.1	.	.	.	.	.	.	.	.	.	.	G	1.821	-0.472148	0.04445	.	.	ENSG00000075856	ENST00000412617	.	.	.	5.81	3.0	0.34707	.	0.058956	0.64402	D	0.000002	T	0.46737	0.1408	.	.	.	0.80722	D	1	B	0.10296	0.003	B	0.11329	0.006	T	0.39014	-0.9634	8	0.87932	D	0	-20.0894	7.8898	0.29672	0.1328:0.2473:0.62:0.0	.	672	E7EMI4	.	F	672	.	ENSP00000400292:L672F	L	-	1	0	SART3	107444201	1.000000	0.71417	0.984000	0.44739	0.157000	0.22087	1.535000	0.36061	0.372000	0.24591	0.655000	0.94253	CTT		0.567	SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404094.1			15	72	0	0	0	1	0	15	72				
FAM73A	374986	broad.mit.edu	37	1	78267146	78267146	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:78267146C>G	ENST00000370791.3	+	3	358	c.326C>G	c.(325-327)cCa>cGa	p.P109R	FAM73A_ENST00000443751.2_Missense_Mutation_p.P71R	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	109						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		CCATGGGAACCAGAGCACCTC	0.358																																						ENST00000370791.3																			0				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19						c.(325-327)cCa>cGa		family with sequence similarity 73, member A							77.0	79.0	78.0					1																	78267146		2203	4300	6503	SO:0001583	missense	374986					integral to membrane		g.chr1:78267146C>G		CCDS681.1, CCDS72809.1	1p31.1	2008-02-05			ENSG00000180488	ENSG00000180488			24741	protein-coding gene	gene with protein product							Standard	NM_001270384		Approved	FLJ35093	uc010ork.3	Q8NAN2	OTTHUMG00000009766	ENST00000370791.3:c.326C>G	1.37:g.78267146C>G	ENSP00000359827:p.Pro109Arg					FAM73A_ENST00000443751.2_Missense_Mutation_p.P71R	p.P109R	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN		Colorectal(170;0.226)	3	358	+			109					Q6MZG0	Missense_Mutation	SNP	ENST00000370791.3	37	c.326C>G	CCDS681.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.363695	0.82353	.	.	ENSG00000180488	ENST00000370791;ENST00000443751	T;T	0.22134	1.97;1.97	5.44	5.44	0.79542	.	0.109197	0.64402	D	0.000006	T	0.36276	0.0961	M	0.67953	2.075	0.58432	D	0.999994	D;D;D	0.71674	0.98;0.998;0.998	P;D;D	0.65233	0.693;0.933;0.933	T	0.03545	-1.1026	10	0.42905	T	0.14	-14.3804	19.2613	0.93968	0.0:1.0:0.0:0.0	.	71;109;109	F8W7S1;B7ZLZ8;Q8NAN2	.;.;FA73A_HUMAN	R	109;71	ENSP00000359827:P109R;ENSP00000393675:P71R	ENSP00000359827:P109R	P	+	2	0	FAM73A	78039734	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.386000	0.52492	2.546000	0.85860	0.655000	0.94253	CCA		0.358	FAM73A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026931.1	NM_198549		9	24	0	0	0	1	0	9	24				
JADE1	79960	broad.mit.edu	37	4	129770191	129770191	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr4:129770191C>T	ENST00000226319.6	+	5	633	c.353C>T	c.(352-354)tCa>tTa	p.S118L	PHF17_ENST00000511647.1_Missense_Mutation_p.S118L|PHF17_ENST00000512960.1_Missense_Mutation_p.S118L|PHF17_ENST00000452328.2_Missense_Mutation_p.S106L|PHF17_ENST00000413543.2_Missense_Mutation_p.S118L	NM_199320.2	NP_955352.1														NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TACATCGTGTCATCAGGCTCT	0.517																																						ENST00000226319.6																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(352-354)tCa>tTa									187.0	162.0	170.0					4																	129770191		2203	4300	6503	SO:0001583	missense	79960				apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding	g.chr4:129770191C>T																												ENST00000226319.6:c.353C>T	4.37:g.129770191C>T	ENSP00000226319:p.Ser118Leu					PHF17_ENST00000452328.2_Missense_Mutation_p.S106L|PHF17_ENST00000511647.1_Missense_Mutation_p.S118L|PHF17_ENST00000413543.2_Missense_Mutation_p.S118L|PHF17_ENST00000512960.1_Missense_Mutation_p.S118L	p.S118L	NM_199320.2	NP_955352.1	Q6IE81	JADE1_HUMAN			5	633	+			118						Missense_Mutation	SNP	ENST00000226319.6	37	c.353C>T	CCDS34062.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.075548	0.36662	.	.	ENSG00000077684	ENST00000226319;ENST00000511647;ENST00000452328;ENST00000504089;ENST00000512960;ENST00000503785;ENST00000535321;ENST00000510308;ENST00000413543;ENST00000507833;ENST00000508997	T;T;T;T;T;T;T;T;T	0.44083	1.02;1.02;0.93;1.02;1.02;1.02;1.02;1.02;1.02	4.69	4.69	0.59074	Enhancer of polycomb-like, N-terminal (1);	0.000000	0.52532	D	0.000064	T	0.38108	0.1028	L	0.31664	0.95	0.53005	D	0.999969	B;P;B	0.36086	0.078;0.536;0.002	B;B;B	0.41135	0.108;0.348;0.007	T	0.11421	-1.0588	9	.	.	.	.	18.1761	0.89761	0.0:1.0:0.0:0.0	.	106;118;118	Q6IE81-2;Q6IE81;Q6IE81-3	.;JADE1_HUMAN;.	L	118;118;106;118;118;118;118;118;118;118;118	ENSP00000226319:S118L;ENSP00000423737:S118L;ENSP00000388015:S106L;ENSP00000426590:S118L;ENSP00000425730:S118L;ENSP00000422445:S118L;ENSP00000421265:S118L;ENSP00000404211:S118L;ENSP00000424280:S118L	.	S	+	2	0	PHF17	129989641	1.000000	0.71417	0.388000	0.26195	0.178000	0.23041	5.074000	0.64401	2.577000	0.86979	0.655000	0.94253	TCA		0.517	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364280.1			23	56	0	0	0	1	0	23	56				
EML2	24139	broad.mit.edu	37	19	46136150	46136150	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr19:46136150C>G	ENST00000245925.3	-	6	529	c.479G>C	c.(478-480)aGa>aCa	p.R160T	EML2_ENST00000536630.1_Missense_Mutation_p.R307T|EML2_ENST00000587152.1_Missense_Mutation_p.R361T|EML2_ENST00000589876.1_Missense_Mutation_p.R160T|EML2_ENST00000586902.1_5'Flank	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	160	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		GCACACGGCTCTGTCAAACAC	0.617																																						ENST00000536630.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31						c.(919-921)aGa>aCa		echinoderm microtubule associated protein like 2							94.0	82.0	86.0					19																	46136150		2203	4300	6503	SO:0001583	missense	24139				sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding	g.chr19:46136150C>G	AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"""WD repeat domain containing"""	18035	protein-coding gene	gene with protein product	"""echinoderm MT-associated protein (EMAP)-like protein 70"", ""microtubule-associated protein like echinoderm EMAP"""					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.479G>C	19.37:g.46136150C>G	ENSP00000245925:p.Arg160Thr					EML2_ENST00000587152.1_Missense_Mutation_p.R361T|EML2_ENST00000245925.3_Missense_Mutation_p.R160T|EML2_ENST00000589876.1_Missense_Mutation_p.R160T	p.R307T	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)	9	1058	-		Ovarian(192;0.179)|all_neural(266;0.224)	160					B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Missense_Mutation	SNP	ENST00000245925.3	37	c.920G>C	CCDS12670.1	.	.	.	.	.	.	.	.	.	.	C	31	5.074086	0.94000	.	.	ENSG00000125746	ENST00000536630;ENST00000245925;ENST00000448055;ENST00000399594	T;T;T	0.40225	1.04;1.04;5.02	4.97	4.97	0.65823	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	T	0.66829	0.2829	M	0.83852	2.665	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.991;0.996;0.999	T	0.68398	-0.5419	10	0.42905	T	0.14	-13.9232	15.7695	0.78157	0.0:1.0:0.0:0.0	.	160;326;307;318;160	B7Z918;B7Z3Q9;B7Z3I2;B7Z872;O95834	.;.;.;.;EMAL2_HUMAN	T	307;160;361;318	ENSP00000442365:R307T;ENSP00000245925:R160T;ENSP00000382503:R318T	ENSP00000245925:R160T	R	-	2	0	EML2	50827990	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	7.211000	0.77933	2.567000	0.86603	0.563000	0.77884	AGA		0.617	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	NM_012155		6	22	0	0	0	1	0	6	22				
COL4A2	1284	broad.mit.edu	37	13	111160475	111160475	+	Silent	SNP	G	G	T	rs544072830		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr13:111160475G>T	ENST00000360467.5	+	47	5094	c.4788G>T	c.(4786-4788)ccG>ccT	p.P1596P	COL4A2-AS1_ENST00000417970.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1596	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GTGAGGCCCCGGCCATCGCCA	0.607																																						ENST00000360467.5																			0				NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(4786-4788)ccG>ccT		collagen, type IV, alpha 2							67.0	76.0	73.0					13																	111160475		2158	4264	6422	SO:0001819	synonymous_variant	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111160475G>T	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.4788G>T	13.37:g.111160475G>T						COL4A2-AS1_ENST00000417970.2_RNA	p.P1596P	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		47	5094	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	1596			Collagen IV NC1.		Q14052|Q548C3|Q5VZA9|Q66K23	Silent	SNP	ENST00000360467.5	37	c.4788G>T	CCDS41907.1																																																																																				0.607	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		5	49	1	0	5.9392e-07	1	6.2738e-07	5	49				
BTC	685	broad.mit.edu	37	4	75675857	75675857	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr4:75675857C>G	ENST00000395743.3	-	4	714	c.354G>C	c.(352-354)caG>caC	p.Q118H		NM_001729.2	NP_001720.1	P35070	BTC_HUMAN	betacellulin	118					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mitosis (GO:0045840)|positive regulation of urine volume (GO:0035810)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(101;0.219)			TCACCAGAATCTGTCCTCTGT	0.378																																						ENST00000395743.3																			0				central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10						c.(352-354)caG>caC		betacellulin							197.0	208.0	204.0					4																	75675857		2203	4300	6503	SO:0001583	missense	685				positive regulation of cell division|positive regulation of cell proliferation	extracellular space|integral to membrane|plasma membrane|soluble fraction	epidermal growth factor receptor binding|growth factor activity	g.chr4:75675857C>G	S55606	CCDS3566.1	4q13.3	2012-09-20			ENSG00000174808	ENSG00000174808			1121	protein-coding gene	gene with protein product		600345				8439318, 11522793	Standard	NM_001729		Approved		uc003hig.2	P35070	OTTHUMG00000130107	ENST00000395743.3:c.354G>C	4.37:g.75675857C>G	ENSP00000379092:p.Gln118His						p.Q118H	NM_001729.2	NP_001720.1	P35070	BTC_HUMAN	Lung(101;0.219)		4	714	-			118					Q96F48	Missense_Mutation	SNP	ENST00000395743.3	37	c.354G>C	CCDS3566.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.463832	0.26335	.	.	ENSG00000174808	ENST00000395743	T	0.26660	1.72	5.32	3.55	0.40652	.	0.241149	0.42821	N	0.000648	T	0.21841	0.0526	L	0.53249	1.67	0.32066	N	0.59501	P	0.44281	0.831	B	0.41571	0.36	T	0.24977	-1.0145	10	0.40728	T	0.16	-7.8009	4.4147	0.11450	0.1696:0.5979:0.1477:0.0848	.	118	P35070	BTC_HUMAN	H	118	ENSP00000379092:Q118H	ENSP00000379092:Q118H	Q	-	3	2	BTC	75894881	0.997000	0.39634	1.000000	0.80357	0.949000	0.60115	0.558000	0.23469	0.855000	0.35359	0.563000	0.77884	CAG		0.378	BTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252413.1			30	75	0	0	0	1	0	30	75				
PRKG2	5593	broad.mit.edu	37	4	82058607	82058607	+	Missense_Mutation	SNP	T	T	A	rs143281279		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr4:82058607T>A	ENST00000395578.1	-	13	1690	c.1574A>T	c.(1573-1575)tAt>tTt	p.Y525F	PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000264399.1_Missense_Mutation_p.Y525F|PRKG2_ENST00000545647.1_Missense_Mutation_p.Y105F|PRKG2_ENST00000418486.2_Missense_Mutation_p.Y496F			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	525	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						CATGTATACATACTTATTGTC	0.363																																						ENST00000395578.1																			0				NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						c.(1573-1575)tAt>tTt		protein kinase, cGMP-dependent, type II							123.0	122.0	122.0					4																	82058607		2203	4300	6503	SO:0001583	missense	5593				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr4:82058607T>A	X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.1574A>T	4.37:g.82058607T>A	ENSP00000378945:p.Tyr525Phe					PRKG2_ENST00000545647.1_Missense_Mutation_p.Y105F|PRKG2_ENST00000264399.1_Missense_Mutation_p.Y525F|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000418486.2_Missense_Mutation_p.Y496F	p.Y525F			Q13237	KGP2_HUMAN			13	1690	-			525			Protein kinase.		B4DMX3|E7EPE6|O00125|O60916	Missense_Mutation	SNP	ENST00000395578.1	37	c.1574A>T	CCDS3589.1	.	.	.	.	.	.	.	.	.	.	T	15.00	2.702746	0.48307	.	.	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486;ENST00000545647	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	5.53	5.53	0.82687	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.053822	0.85682	D	0.000000	T	0.54481	0.1861	N	0.04355	-0.22	0.58432	D	0.999998	P;B	0.37708	0.606;0.402	P;P	0.51016	0.656;0.572	T	0.61277	-0.7095	10	0.37606	T	0.19	-15.5395	15.3104	0.74026	0.0:0.0:0.0:1.0	.	496;525	E7EPE6;Q13237	.;KGP2_HUMAN	F	525;525;496;105	ENSP00000378945:Y525F;ENSP00000264399:Y525F;ENSP00000389038:Y496F;ENSP00000439967:Y105F	ENSP00000264399:Y525F	Y	-	2	0	PRKG2	82277631	1.000000	0.71417	0.995000	0.50966	0.764000	0.43329	4.989000	0.63870	2.112000	0.64535	0.482000	0.46254	TAT		0.363	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1	NM_006259		18	55	0	0	0	1	0	18	55				
ACPP	55	broad.mit.edu	37	3	132063882	132063882	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr3:132063882G>C	ENST00000336375.5	+	7	850	c.760G>C	c.(760-762)Gag>Cag	p.E254Q	ACPP_ENST00000351273.7_Missense_Mutation_p.E254Q|ACPP_ENST00000475741.1_Missense_Mutation_p.E221Q	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	254					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleotide metabolic process (GO:0009117)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|purine nucleobase metabolic process (GO:0006144)|regulation of sensory perception of pain (GO:0051930)|thiamine metabolic process (GO:0006772)	apical part of cell (GO:0045177)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi cisterna (GO:0031985)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|vesicle membrane (GO:0012506)	5'-nucleotidase activity (GO:0008253)|acid phosphatase activity (GO:0003993)|choline binding (GO:0033265)|identical protein binding (GO:0042802)|lysophosphatidic acid phosphatase activity (GO:0052642)|phosphatase activity (GO:0016791)|thiamine phosphate phosphatase activity (GO:0042131)			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						CAAGCAGAAAGAGAAATCTAG	0.438																																						ENST00000336375.5																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(760-762)Gag>Cag		acid phosphatase, prostate							64.0	62.0	62.0					3																	132063882		2203	4300	6503	SO:0001583	missense	55					extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity	g.chr3:132063882G>C		CCDS3073.1, CCDS46916.1	3q22.1	2012-05-16			ENSG00000014257	ENSG00000014257	3.1.3.2		125	protein-coding gene	gene with protein product		171790					Standard	NM_001099		Approved	ACP3, ACP-3	uc003eop.4	P15309	OTTHUMG00000159650	ENST00000336375.5:c.760G>C	3.37:g.132063882G>C	ENSP00000337471:p.Glu254Gln					ACPP_ENST00000351273.7_Missense_Mutation_p.E254Q|ACPP_ENST00000475741.1_Missense_Mutation_p.E221Q	p.E254Q	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN			7	850	+			254					D3DNC6|Q5FBY0|Q96KY0|Q96QK9|Q96QM0	Missense_Mutation	SNP	ENST00000336375.5	37	c.760G>C	CCDS3073.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.432948	0.62844	.	.	ENSG00000014257	ENST00000336375;ENST00000475741;ENST00000351273	T;T;T	0.33216	1.42;1.42;1.42	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000002	T	0.33789	0.0875	L	0.56396	1.775	0.50813	D	0.99989	P;P;P	0.47484	0.633;0.896;0.83	B;B;B	0.40825	0.117;0.243;0.341	T	0.10706	-1.0618	10	0.42905	T	0.14	.	17.0713	0.86574	0.0:0.0:1.0:0.0	.	254;254;221	P15309;P15309-2;Q5FBY0	PPAP_HUMAN;.;.	Q	254;221;254	ENSP00000337471:E254Q;ENSP00000417744:E221Q;ENSP00000323036:E254Q	ENSP00000337471:E254Q	E	+	1	0	ACPP	133546572	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.281000	0.58965	2.634000	0.89283	0.650000	0.86243	GAG		0.438	ACPP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356699.2	NM_001099		13	23	0	0	0	1	0	13	23				
GUCY2C	2984	broad.mit.edu	37	12	14794056	14794056	+	Silent	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr12:14794056C>T	ENST00000261170.3	-	18	2164	c.2028G>A	c.(2026-2028)cgG>cgA	p.R676R		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	676	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	AGGTTTCTTTCCGCAGGATGA	0.522																																						ENST00000261170.3																			0				breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						c.(2026-2028)cgG>cgA		guanylate cyclase 2C (heat stable enterotoxin receptor)							152.0	109.0	123.0					12																	14794056		2203	4300	6503	SO:0001819	synonymous_variant	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14794056C>T		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.2028G>A	12.37:g.14794056C>T							p.R676R	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN			18	2164	-			676			Protein kinase.		B2RMY6	Silent	SNP	ENST00000261170.3	37	c.2028G>A	CCDS8664.1																																																																																				0.522	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			12	22	0	0	0	1	0	12	22				
HMGN3	9324	broad.mit.edu	37	6	79912025	79912025	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr6:79912025G>A	ENST00000344726.5	-	5	357	c.229C>T	c.(229-231)Cca>Tca	p.P77S	HMGN3_ENST00000275036.7_Intron	NM_001201362.1|NM_001201363.1|NM_004242.3	NP_001188291.1|NP_001188292.1|NP_004233.1	Q15651	HMGN3_HUMAN	high mobility group nucleosomal binding domain 3	77					chromatin modification (GO:0016568)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|thyroid hormone receptor binding (GO:0046966)			central_nervous_system(1)|kidney(2)|lung(1)	4		all_cancers(76;0.000116)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0393)		BRCA - Breast invasive adenocarcinoma(397;0.125)		TTTTCAGATGGTGCAGTACCT	0.418																																						ENST00000344726.5																			0				central_nervous_system(1)|kidney(2)|lung(1)	4						c.(229-231)Cca>Tca		high mobility group nucleosomal binding domain 3							232.0	216.0	222.0					6																	79912025		2203	4300	6503	SO:0001583	missense	9324				chromatin modification	chromatin|cytoplasm|nucleus	DNA binding|thyroid hormone receptor binding	g.chr6:79912025G>A	L40357	CCDS4988.1, CCDS4989.1, CCDS75485.1	6q14.3	2011-07-01	2002-07-25	2002-07-26	ENSG00000118418	ENSG00000118418		"""High-mobility group / Canonical"""	12312	protein-coding gene	gene with protein product		604502	"""thyroid hormone receptor interactor 7"""	TRIP7		7776974, 11356838	Standard	NM_004242		Approved		uc021zbz.1	Q15651	OTTHUMG00000015073	ENST00000344726.5:c.229C>T	6.37:g.79912025G>A	ENSP00000341267:p.Pro77Ser					HMGN3_ENST00000275036.7_Intron	p.P77S	NM_001201362.1|NM_001201363.1|NM_004242.3	NP_001188291.1|NP_001188292.1|NP_004233.1	Q15651	HMGN3_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.125)	5	357	-		all_cancers(76;0.000116)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0393)	77					B2RD37|Q5HYD3|Q7RTT0|Q969M5|Q9BZT7	Missense_Mutation	SNP	ENST00000344726.5	37	c.229C>T	CCDS4988.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.476323	0.63737	.	.	ENSG00000118418	ENST00000344726	.	.	.	5.36	5.36	0.76844	.	0.051812	0.85682	D	0.000000	T	0.76579	0.4007	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75847	-0.3173	7	.	.	.	.	18.2596	0.90030	0.0:0.0:1.0:0.0	.	77	Q15651	HMGN3_HUMAN	S	77	.	.	P	-	1	0	HMGN3	79968744	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.094000	0.76944	2.790000	0.95986	0.655000	0.94253	CCA		0.418	HMGN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041300.1	NM_004242		19	99	0	0	0	1	0	19	99				
TRPV3	162514	broad.mit.edu	37	17	3448490	3448490	+	Silent	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr17:3448490G>C	ENST00000576742.1	-	3	516	c.195C>G	c.(193-195)tcC>tcG	p.S65S	TRPV3_ENST00000572519.1_Silent_p.S65S|TRPV3_ENST00000301365.4_Silent_p.S65S	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	65					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	CCATGGGCTTGGAGAAGACAG	0.592																																						ENST00000301365.4																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35						c.(193-195)tcC>tcG		transient receptor potential cation channel, subfamily V, member 3	Menthol(DB00825)						115.0	100.0	105.0					17																	3448490		2203	4300	6503	SO:0001819	synonymous_variant	162514					integral to membrane	calcium channel activity	g.chr17:3448490G>C	AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.195C>G	17.37:g.3448490G>C						TRPV3_ENST00000572519.1_Silent_p.S65S|TRPV3_ENST00000576742.1_Silent_p.S65S	p.S65S			Q8NET8	TRPV3_HUMAN			3	326	-			65					Q8NDW7|Q8NET9|Q8NFH2	Silent	SNP	ENST00000576742.1	37	c.195C>G	CCDS11029.1																																																																																				0.592	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	NM_145068		6	37	0	0	0	1	0	6	37				
FAM71E1	112703	broad.mit.edu	37	19	50978661	50978661	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr19:50978661A>G	ENST00000600100.1	-	3	824	c.460T>C	c.(460-462)Tcc>Ccc	p.S154P	FAM71E1_ENST00000595790.1_Missense_Mutation_p.S138P|EMC10_ENST00000376918.3_5'Flank|EMC10_ENST00000334976.6_5'Flank|EMC10_ENST00000598585.1_5'Flank			Q6IPT2	F71E1_HUMAN	family with sequence similarity 71, member E1	154										breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)		GCTGGACTGGAGGCTGCCACC	0.642																																						ENST00000600100.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(460-462)Tcc>Ccc		family with sequence similarity 71, member E1							33.0	33.0	33.0					19																	50978661		2201	4297	6498	SO:0001583	missense	112703							g.chr19:50978661A>G		CCDS33081.1	19q13.33	2007-11-20				ENSG00000142530			25107	protein-coding gene	gene with protein product							Standard	XM_005258472		Approved		uc002psg.3	Q6IPT2		ENST00000600100.1:c.460T>C	19.37:g.50978661A>G	ENSP00000472421:p.Ser154Pro					FAM71E1_ENST00000595790.1_Missense_Mutation_p.S138P	p.S154P			Q6IPT2	F71E1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)	3	824	-		all_neural(266;0.131)	154					Q96EJ5|Q9BSM9	Missense_Mutation	SNP	ENST00000600100.1	37	c.460T>C		.	.	.	.	.	.	.	.	.	.	A	18.20	3.572281	0.65765	.	.	ENSG00000142530	ENST00000391816;ENST00000270620	T;T	0.20881	2.33;2.04	4.79	3.71	0.42584	.	0.253139	0.27991	N	0.017037	T	0.36524	0.0970	M	0.64997	1.995	0.31343	N	0.683445	D;D	0.71674	0.998;0.997	P;D	0.63793	0.878;0.918	T	0.40251	-0.9573	10	0.87932	D	0	-27.4651	8.2237	0.31556	0.7537:0.0:0.0:0.2463	.	154;138	Q6IPT2;Q6IPT2-2	F71E1_HUMAN;.	P	154;138	ENSP00000375692:S154P;ENSP00000270620:S138P	ENSP00000270620:S138P	S	-	1	0	FAM71E1	55670473	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.021000	0.41020	1.926000	0.55796	0.379000	0.24179	TCC		0.642	FAM71E1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464754.2			3	16	0	0	0	1	0	3	16				
ST14	6768	broad.mit.edu	37	11	130060365	130060365	+	Silent	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr11:130060365C>A	ENST00000278742.5	+	7	1069	c.651C>A	c.(649-651)ggC>ggA	p.G217G		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	217	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GCAGCTTTGGCCTGCACGCCC	0.711																																						ENST00000278742.5																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32						c.(649-651)ggC>ggA		suppression of tumorigenicity 14 (colon carcinoma)	Urokinase(DB00013)						28.0	34.0	32.0					11																	130060365		2195	4288	6483	SO:0001819	synonymous_variant	6768				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr11:130060365C>A	AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"""Serine peptidases / Transmembrane"""	11344	protein-coding gene	gene with protein product	"""epithin"", ""matriptase"""	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.651C>A	11.37:g.130060365C>A							p.G217G	NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	7	1069	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	217			CUB 1.		Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Silent	SNP	ENST00000278742.5	37	c.651C>A	CCDS8487.1																																																																																				0.711	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1			10	94	1	0	0.00621372	1	0.00636217	10	94				
ITPRIPL1	150771	broad.mit.edu	37	2	96993392	96993392	+	Silent	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr2:96993392C>G	ENST00000439118.2	+	3	1274	c.1023C>G	c.(1021-1023)ctC>ctG	p.L341L	ITPRIPL1_ENST00000542887.1_Silent_p.L333L|ITPRIPL1_ENST00000536814.1_Silent_p.L333L|ITPRIPL1_ENST00000361124.4_Silent_p.L349L	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	341						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ACTTTAAACTCAGTCTCCCAC	0.572																																						ENST00000361124.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1045-1047)ctC>ctG		inositol 1,4,5-trisphosphate receptor interacting protein-like 1							72.0	72.0	72.0					2																	96993392		2203	4300	6503	SO:0001819	synonymous_variant	150771					integral to membrane		g.chr2:96993392C>G		CCDS33250.1, CCDS46360.1, CCDS54378.1	2q11.2	2011-04-28	2011-04-28	2008-08-11	ENSG00000198885	ENSG00000198885			29371	protein-coding gene	gene with protein product			"""KIAA1754-like"", ""inositol 1,4,5-triphosphate receptor interacting protein-like 1"""	KIAA1754L		12477932	Standard	NM_178495		Approved		uc010yul.2	Q6GPH6	OTTHUMG00000155230	ENST00000439118.2:c.1023C>G	2.37:g.96993392C>G						ITPRIPL1_ENST00000439118.2_Silent_p.L341L|ITPRIPL1_ENST00000536814.1_Silent_p.L333L|ITPRIPL1_ENST00000542887.1_Silent_p.L333L	p.L349L	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN			1	1458	+			341					F5H1L8|Q8NE61	Silent	SNP	ENST00000439118.2	37	c.1047C>G	CCDS46360.1	.	.	.	.	.	.	.	.	.	.	C	4.667	0.124013	0.08931	.	.	ENSG00000198885	ENST00000420728	.	.	.	5.65	3.71	0.42584	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.829	5.454	0.16580	0.1483:0.625:0.1438:0.0828	.	.	.	.	X	373	.	.	S	+	2	0	ITPRIPL1	96357119	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.757000	0.26433	1.602000	0.50124	0.655000	0.94253	TCA		0.572	ITPRIPL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338896.1	NM_178495		14	68	0	0	0	1	0	14	68				
NCOA2	10499	broad.mit.edu	37	8	71082580	71082580	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr8:71082580T>A	ENST00000452400.2	-	6	579	c.398A>T	c.(397-399)gAa>gTa	p.E133V		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	133	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			AACGTTGCCTTCCAGGTTCAC	0.393			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	ENST00000452400.2				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	"""RUNXBP2, HEY1"""		"""AML, Chondrosarcoma"""	PAX3/NCOA2(4)|HEY1/NCOA2(10)	0				NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60						c.(397-399)gAa>gTa		nuclear receptor coactivator 2							91.0	78.0	82.0					8																	71082580		1905	4124	6029	SO:0001583	missense	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71082580T>A	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.398A>T	8.37:g.71082580T>A	ENSP00000399968:p.Glu133Val						p.E133V	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		6	579	-	Breast(64;0.201)		133			PAS.		Q14CD2	Missense_Mutation	SNP	ENST00000452400.2	37	c.398A>T	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.855519	0.91355	.	.	ENSG00000140396	ENST00000452400	T	0.20332	2.08	5.49	5.49	0.81192	PAS (2);PAS fold (1);	0.000000	0.85682	D	0.000000	T	0.53850	0.1822	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63695	-0.6579	10	0.87932	D	0	.	15.5729	0.76354	0.0:0.0:0.0:1.0	.	133	Q15596	NCOA2_HUMAN	V	133	ENSP00000399968:E133V	ENSP00000399968:E133V	E	-	2	0	NCOA2	71245134	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.036000	0.88901	2.074000	0.62210	0.528000	0.53228	GAA		0.393	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			5	4	0	0	0	1	0	5	4				
DEPDC5	9681	broad.mit.edu	37	22	32161047	32161047	+	Splice_Site	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr22:32161047G>A	ENST00000382112.3	+	4	349		c.e4+1		DEPDC5_ENST00000266091.3_Splice_Site|DEPDC5_ENST00000400249.2_Splice_Site|DEPDC5_ENST00000382111.2_Splice_Site|DEPDC5_ENST00000536766.1_Splice_Site|DEPDC5_ENST00000400248.2_Splice_Site|DEPDC5_ENST00000400246.1_Splice_Site|DEPDC5_ENST00000535622.1_Splice_Site|DEPDC5_ENST00000382105.2_Splice_Site|DEPDC5_ENST00000400242.3_Splice_Site	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5						intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGACCCTAAGGTATGTCTTTG	0.388																																						ENST00000400246.1																			0				breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.e5+1		DEP domain containing 5							194.0	181.0	185.0					22																	32161047		1926	4143	6069	SO:0001630	splice_region_variant	9681				intracellular signal transduction			g.chr22:32161047G>A	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.279+1G>A	22.37:g.32161047G>A						DEPDC5_ENST00000400242.3_Splice_Site|DEPDC5_ENST00000400248.1_Splice_Site|DEPDC5_ENST00000400249.2_Splice_Site|DEPDC5_ENST00000535622.1_Splice_Site|DEPDC5_ENST00000382105.2_Splice_Site|DEPDC5_ENST00000382111.2_Splice_Site|DEPDC5_ENST00000382112.3_Splice_Site|DEPDC5_ENST00000266091.3_Splice_Site|DEPDC5_ENST00000536766.1_Splice_Site				O75140	DEPD5_HUMAN			5	421	+								A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Splice_Site	SNP	ENST00000382112.3	37		CCDS46692.1	.	.	.	.	.	.	.	.	.	.	g	20.8	4.057545	0.76074	.	.	ENSG00000100150	ENST00000535622;ENST00000536766;ENST00000400242;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0761	0.80969	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DEPDC5	30491047	1.000000	0.71417	0.996000	0.52242	0.761000	0.43186	9.015000	0.93640	2.376000	0.81061	0.585000	0.79938	.		0.388	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662	Intron	7	30	0	0	0	1	0	7	30				
NCAPG2	54892	broad.mit.edu	37	7	158472660	158472660	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr7:158472660C>T	ENST00000409423.1	-	12	1310	c.1138G>A	c.(1138-1140)Gag>Aag	p.E380K	NCAPG2_ENST00000356309.3_Missense_Mutation_p.E380K|NCAPG2_ENST00000409339.3_Missense_Mutation_p.E380K|NCAPG2_ENST00000449727.2_Missense_Mutation_p.E380K|NCAPG2_ENST00000275830.10_Missense_Mutation_p.E172K	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	380					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		ACATAGAGCTCTTCAAACTGT	0.433																																						ENST00000409339.3																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39						c.(1138-1140)Gag>Aag		non-SMC condensin II complex, subunit G2							154.0	147.0	149.0					7																	158472660		1973	4158	6131	SO:0001583	missense	54892				cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	g.chr7:158472660C>T	BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"""leucine zipper protein 5"""	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.1138G>A	7.37:g.158472660C>T	ENSP00000386569:p.Glu380Lys					NCAPG2_ENST00000409423.1_Missense_Mutation_p.E380K|NCAPG2_ENST00000449727.2_Missense_Mutation_p.E380K|NCAPG2_ENST00000275830.10_Missense_Mutation_p.E172K|NCAPG2_ENST00000356309.3_Missense_Mutation_p.E380K	p.E380K			Q86XI2	CNDG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)	11	1251	-	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	380					A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Missense_Mutation	SNP	ENST00000409423.1	37	c.1138G>A	CCDS43686.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.824831	0.90955	.	.	ENSG00000146918	ENST00000356309;ENST00000409423;ENST00000275830;ENST00000409339;ENST00000449727	T;T;T;T;T	0.31247	1.51;1.51;1.5;1.51;1.51	6.17	6.17	0.99709	Armadillo-like helical (1);Armadillo-type fold (1);	0.100798	0.64402	D	0.000001	T	0.52025	0.1709	L	0.56769	1.78	0.44006	D	0.99671	D;D;D	0.76494	0.998;0.999;0.996	D;D;P	0.80764	0.956;0.994;0.905	T	0.21245	-1.0251	10	0.11182	T	0.66	-30.2225	20.8794	0.99867	0.0:1.0:0.0:0.0	.	380;172;380	Q86XI2-2;E7EUH9;Q86XI2	.;.;CNDG2_HUMAN	K	380;380;172;380;380	ENSP00000348657:E380K;ENSP00000386569:E380K;ENSP00000275830:E172K;ENSP00000387007:E380K;ENSP00000388326:E380K	ENSP00000275830:E172K	E	-	1	0	NCAPG2	158165421	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	3.427000	0.52785	2.941000	0.99782	0.655000	0.94253	GAG		0.433	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760		10	80	0	0	0	1	0	10	80				
SEMA4C	54910	broad.mit.edu	37	2	97527348	97527348	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr2:97527348G>A	ENST00000305476.5	-	14	1772	c.1640C>T	c.(1639-1641)tCa>tTa	p.S547L		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	547	PSI.				cell migration in hindbrain (GO:0021535)|cerebellum development (GO:0021549)|muscle cell differentiation (GO:0042692)|neural tube closure (GO:0001843)|positive regulation of stress-activated MAPK cascade (GO:0032874)|semaphorin-plexin signaling pathway (GO:0071526)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle membrane (GO:0030672)	receptor activity (GO:0004872)			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GCAGATGCCTGAAGTGTCCGA	0.557																																						ENST00000305476.5																			0				NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						c.(1639-1641)tCa>tTa		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C							178.0	175.0	176.0					2																	97527348		2203	4300	6503	SO:0001583	missense	54910				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity	g.chr2:97527348G>A	AB051526	CCDS2029.1	2q11.2	2013-01-11			ENSG00000168758	ENSG00000168758		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10731	protein-coding gene	gene with protein product	"""M-Sema F"""	604462		SEMAI		7656991	Standard	NM_017789		Approved	Semacl1, Semaf	uc002sxh.4	Q9C0C4	OTTHUMG00000130535	ENST00000305476.5:c.1640C>T	2.37:g.97527348G>A	ENSP00000306844:p.Ser547Leu						p.S547L	NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN			14	1772	-			547			PSI.		Q32MJ3|Q7Z5X0	Missense_Mutation	SNP	ENST00000305476.5	37	c.1640C>T	CCDS2029.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.592568	0.46214	.	.	ENSG00000168758	ENST00000305476	T	0.20463	2.07	4.55	4.55	0.56014	.	0.332087	0.28828	N	0.014015	T	0.26268	0.0641	N	0.13140	0.3	0.37405	D	0.913024	P;P;D	0.62365	0.899;0.647;0.991	P;P;D	0.78314	0.593;0.593;0.991	T	0.10359	-1.0633	10	0.22706	T	0.39	.	12.9823	0.58570	0.0:0.0:1.0:0.0	.	547;257;47	Q9C0C4;Q6P5A5;Q71RG3	SEM4C_HUMAN;.;.	L	547	ENSP00000306844:S547L	ENSP00000306844:S547L	S	-	2	0	SEMA4C	96891075	0.103000	0.21917	0.523000	0.27875	0.292000	0.27327	2.353000	0.44089	2.516000	0.84829	0.609000	0.83330	TCA		0.557	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252957.1	NM_017789		32	102	0	0	0	1	0	32	102				
MOXD1	26002	broad.mit.edu	37	6	132645203	132645203	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr6:132645203T>A	ENST00000367963.3	-	7	1098	c.980A>T	c.(979-981)tAc>tTc	p.Y327F	MOXD1_ENST00000336749.3_Missense_Mutation_p.Y259F|MOXD1_ENST00000489128.1_5'UTR	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	327						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		ATCCATTGTGTAAAATAACCT	0.398																																						ENST00000367963.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37						c.(979-981)tAc>tTc		monooxygenase, DBH-like 1							104.0	105.0	105.0					6																	132645203		2203	4300	6503	SO:0001583	missense	26002				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	g.chr6:132645203T>A	AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.980A>T	6.37:g.132645203T>A	ENSP00000356940:p.Tyr327Phe					MOXD1_ENST00000336749.3_Missense_Mutation_p.Y259F|MOXD1_ENST00000489128.1_5'UTR	p.Y327F	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)	7	1098	-	Breast(56;0.0495)		327					Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Missense_Mutation	SNP	ENST00000367963.3	37	c.980A>T	CCDS5152.2	.	.	.	.	.	.	.	.	.	.	T	20.8	4.048882	0.75846	.	.	ENSG00000079931	ENST00000367963;ENST00000336749	T;T	0.35236	1.32;1.32	5.75	5.75	0.90469	Copper type II, ascorbate-dependent monooxygenase, N-terminal (1);PHM/PNGase F domain (1);	0.202454	0.43579	D	0.000550	T	0.28665	0.0710	M	0.72894	2.215	0.80722	D	1	P;B	0.40431	0.717;0.449	B;B	0.37888	0.209;0.26	T	0.16897	-1.0387	10	0.49607	T	0.09	-13.1108	16.0455	0.80717	0.0:0.0:0.0:1.0	.	327;259	Q6UVY6;Q6UVY6-2	MOXD1_HUMAN;.	F	327;259	ENSP00000356940:Y327F;ENSP00000336998:Y259F	ENSP00000336998:Y259F	Y	-	2	0	MOXD1	132686896	1.000000	0.71417	0.845000	0.33349	0.408000	0.30992	6.742000	0.74843	2.189000	0.69895	0.460000	0.39030	TAC		0.398	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000125837.1	NM_015529		14	45	0	0	0	1	0	14	45				
C16orf62	57020	broad.mit.edu	37	16	19628032	19628032	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr16:19628032C>T	ENST00000251143.5	+	14	1138	c.1126C>T	c.(1126-1128)Cag>Tag	p.Q376*	C16orf62_ENST00000438132.3_Nonsense_Mutation_p.Q465*|C16orf62_ENST00000448695.1_Nonsense_Mutation_p.Q226*|C16orf62_ENST00000542263.1_Intron|C16orf62_ENST00000417362.2_Intron|C16orf62_ENST00000543152.1_Nonsense_Mutation_p.Q125*			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	376						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						GGTCCAGAACCAGCTGGTGGT	0.512																																						ENST00000438132.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						c.(1393-1395)Cag>Tag		chromosome 16 open reading frame 62							140.0	115.0	124.0					16																	19628032		2197	4300	6497	SO:0001587	stop_gained	57020					integral to membrane		g.chr16:19628032C>T		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.1126C>T	16.37:g.19628032C>T	ENSP00000251143:p.Gln376*					C16orf62_ENST00000251143.5_Nonsense_Mutation_p.Q376*|C16orf62_ENST00000448695.1_Nonsense_Mutation_p.Q226*|C16orf62_ENST00000543152.1_Nonsense_Mutation_p.Q125*|C16orf62_ENST00000542263.1_Intron|C16orf62_ENST00000417362.2_Intron	p.Q465*	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN			14	1441	+			376					A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Nonsense_Mutation	SNP	ENST00000251143.5	37	c.1393C>T		.	.	.	.	.	.	.	.	.	.	C	33	5.225281	0.95173	.	.	ENSG00000103544	ENST00000438132;ENST00000251143;ENST00000448695	.	.	.	5.38	5.38	0.77491	.	0.060815	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-23.135	18.7567	0.91835	0.0:1.0:0.0:0.0	.	.	.	.	X	465;376;226	.	.	Q	+	1	0	C16orf62	19535533	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.313000	0.78978	2.524000	0.85096	0.557000	0.71058	CAG		0.512	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314		10	35	0	0	0	1	0	10	35				
ELOVL4	6785	broad.mit.edu	37	6	80634736	80634736	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr6:80634736G>A	ENST00000369816.4	-	3	602	c.302C>T	c.(301-303)tCa>tTa	p.S101L		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	101					cellular lipid metabolic process (GO:0044255)|detection of visible light (GO:0009584)|fatty acid biosynthetic process (GO:0006633)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)	G-protein coupled photoreceptor activity (GO:0008020)|transferase activity (GO:0016740)			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	CGCATTATATGATCCCATGAA	0.279																																						ENST00000369816.4																			0				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(301-303)tCa>tTa		ELOVL fatty acid elongase 4	Alpha-Linolenic Acid(DB00132)						64.0	67.0	66.0					6																	80634736		2202	4294	6496	SO:0001583	missense	6785				fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups	g.chr6:80634736G>A	AF277094	CCDS4992.1	6q14	2013-01-08	2011-05-25		ENSG00000118402	ENSG00000118402			14415	protein-coding gene	gene with protein product	"""cancer/testis antigen 118"""	605512	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4"""	STGD2, STGD3		11138005	Standard	NM_022726		Approved	CT118	uc003pja.4	Q9GZR5	OTTHUMG00000015087	ENST00000369816.4:c.302C>T	6.37:g.80634736G>A	ENSP00000358831:p.Ser101Leu						p.S101L	NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0168)	3	602	-		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)	101					B2R6B5|Q5TCS2|Q86YJ1|Q9H139	Missense_Mutation	SNP	ENST00000369816.4	37	c.302C>T	CCDS4992.1	.	.	.	.	.	.	.	.	.	.	G	33	5.202678	0.94997	.	.	ENSG00000118402	ENST00000369816	T	0.22743	1.94	6.03	6.03	0.97812	.	0.201399	0.43919	D	0.000513	T	0.21347	0.0514	L	0.33792	1.035	0.58432	D	0.999999	P	0.38473	0.633	P	0.49421	0.61	T	0.00920	-1.1514	10	0.49607	T	0.09	-10.9911	19.545	0.95291	0.0:0.0:1.0:0.0	.	101	Q9GZR5	ELOV4_HUMAN	L	101	ENSP00000358831:S101L	ENSP00000358831:S101L	S	-	2	0	ELOVL4	80691455	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.869000	0.99810	2.861000	0.98227	0.655000	0.94253	TCA		0.279	ELOVL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041315.1			6	25	0	0	0	1	0	6	25				
ITSN1	6453	broad.mit.edu	37	21	35107450	35107450	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr21:35107450C>G	ENST00000381318.3	+	5	575	c.287C>G	c.(286-288)tCt>tGt	p.S96C	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.S96C|ITSN1_ENST00000399352.1_Missense_Mutation_p.S96C|ITSN1_ENST00000399355.2_Missense_Mutation_p.S96C|ITSN1_ENST00000399338.4_Missense_Mutation_p.S96C|ITSN1_ENST00000379960.5_Missense_Mutation_p.S96C|ITSN1_ENST00000399367.3_Missense_Mutation_p.S96C|ITSN1_ENST00000399326.3_Missense_Mutation_p.S96C|ITSN1_ENST00000399353.1_Missense_Mutation_p.S96C|ITSN1_ENST00000381285.4_Missense_Mutation_p.S96C|ITSN1_ENST00000399349.1_Missense_Mutation_p.S96C|ITSN1_ENST00000381291.4_Missense_Mutation_p.S96C	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	96	EH 1. {ECO:0000255|PROSITE- ProRule:PRU00077}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CAGCTACCCTCTGCACTTCCC	0.398																																						ENST00000381318.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(286-288)tCt>tGt		intersectin 1 (SH3 domain protein)							127.0	112.0	117.0					21																	35107450		2203	4300	6503	SO:0001583	missense	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35107450C>G	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.287C>G	21.37:g.35107450C>G	ENSP00000370719:p.Ser96Cys					ITSN1_ENST00000399338.4_Missense_Mutation_p.S96C|ITSN1_ENST00000379960.5_Missense_Mutation_p.S96C|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399349.1_Missense_Mutation_p.S96C|ITSN1_ENST00000399326.3_Missense_Mutation_p.S96C|ITSN1_ENST00000381291.4_Missense_Mutation_p.S96C|ITSN1_ENST00000399352.1_Missense_Mutation_p.S96C|ITSN1_ENST00000399367.3_Missense_Mutation_p.S96C|ITSN1_ENST00000399355.2_Missense_Mutation_p.S96C|ITSN1_ENST00000399353.1_Missense_Mutation_p.S96C|ITSN1_ENST00000381285.4_Missense_Mutation_p.S96C|ITSN1_ENST00000437442.2_Missense_Mutation_p.S96C	p.S96C	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN			5	575	+			96			EH 1.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	c.287C>G	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.716914	0.48622	.	.	ENSG00000205726	ENST00000399353;ENST00000444491;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000381283;ENST00000399338;ENST00000437442;ENST00000399326;ENST00000379960	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43	5.58	4.69	0.59074	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.172636	0.52532	D	0.000065	T	0.49966	0.1588	M	0.69185	2.1	0.20926	N	0.999827	B;B;B;B;B;D;B;B;B;B	0.60160	0.124;0.124;0.124;0.318;0.291;0.987;0.318;0.318;0.291;0.124	B;B;B;B;B;P;B;B;B;B	0.58928	0.221;0.221;0.221;0.161;0.141;0.848;0.161;0.161;0.141;0.221	T	0.48433	-0.9036	10	0.48119	T	0.1	.	16.5141	0.84294	0.0:0.8689:0.1311:0.0	.	96;96;96;96;96;96;96;96;96;96	A8D7D0;A7XZY7;A8CTY7;A8CTY3;F8W7U0;E7ERJ1;A8CTX8;Q15811;Q15811-3;E7ERJ0	.;.;.;.;.;.;.;ITSN1_HUMAN;.;.	C	96	ENSP00000382290:S96C;ENSP00000400079:S96C;ENSP00000370719:S96C;ENSP00000370691:S96C;ENSP00000370685:S96C;ENSP00000382301:S96C;ENSP00000382289:S96C;ENSP00000382292:S96C;ENSP00000382286:S96C;ENSP00000370683:S96C;ENSP00000382275:S96C;ENSP00000387377:S96C;ENSP00000382265:S96C;ENSP00000369294:S96C	ENSP00000369294:S96C	S	+	2	0	ITSN1	34029320	0.706000	0.27856	0.094000	0.20943	0.777000	0.43975	6.037000	0.70956	1.333000	0.45449	0.563000	0.77884	TCT		0.398	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		15	72	0	0	0	1	0	15	72				
RNASET2	8635	broad.mit.edu	37	6	167343140	167343140	+	Missense_Mutation	SNP	C	C	T	rs146590748	byFrequency	TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr6:167343140C>T	ENST00000508775.1	-	9	1226	c.707G>A	c.(706-708)cGg>cAg	p.R236Q	RNASET2_ENST00000366855.6_Missense_Mutation_p.R198Q|RP11-514O12.4_ENST00000507747.1_Intron|RNASET2_ENST00000476238.2_Missense_Mutation_p.R236Q	NM_003730.4	NP_003721.2	O00584	RNT2_HUMAN	ribonuclease T2	236			R -> W (in dbSNP:rs11159).		RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	ribonuclease activity (GO:0004540)|ribonuclease T2 activity (GO:0033897)|RNA binding (GO:0003723)	p.R236L(1)		large_intestine(4)|lung(4)	8		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)		TCTCAGACCCCGGCTCTCGGC	0.542													C|||	7	0.00139776	0.0	0.0014	5008	,	,		15448	0.004		0.0	False		,,,				2504	0.002					ENST00000366855.6																			1	Substitution - Missense(1)	p.R236L(1)	lung(1)	large_intestine(4)|lung(4)	8						c.(592-594)cGg>cAg		ribonuclease T2		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	138.0	162.0	154.0		707	-3.5	0.0	6	dbSNP_134	154	3,8597	3.0+/-9.4	0,3,4297	no	missense	RNASET2	NM_003730.4	43	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	possibly-damaging	236/257	167343140	4,13002	2203	4300	6503	SO:0001583	missense	8635				RNA catabolic process	extracellular region	ribonuclease T2 activity|RNA binding	g.chr6:167343140C>T	AJ419866	CCDS5295.1	6q27	2014-05-20			ENSG00000026297	ENSG00000026297			21686	protein-coding gene	gene with protein product		612944				9192857	Standard	NM_003730		Approved	RNASE6PL, FLJ10907, bA514O12.3	uc003qve.3	O00584	OTTHUMG00000016009	ENST00000508775.1:c.707G>A	6.37:g.167343140C>T	ENSP00000426455:p.Arg236Gln					RNASET2_ENST00000476238.2_Missense_Mutation_p.R236Q|RP11-514O12.4_ENST00000507747.1_Intron|RNASET2_ENST00000508775.1_Missense_Mutation_p.R236Q	p.R198Q			O00584	RNT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)	10	1268	-		Breast(66;1.53e-05)|Ovarian(120;0.0606)	236					B2RDA7|E1P5C3|Q5T8Q0|Q8TCU2|Q9BZ46|Q9BZ47	Missense_Mutation	SNP	ENST00000508775.1	37	c.593G>A	CCDS5295.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	7.932	0.740848	0.15642	2.27E-4	3.49E-4	ENSG00000026297	ENST00000366855;ENST00000508775;ENST00000428859;ENST00000476238;ENST00000478180	T;T;T;T	0.62788	-0.0;0.0;0.0;0.01	4.44	-3.46	0.04767	.	1.496370	0.03949	N	0.288231	T	0.12518	0.0304	N	0.14661	0.345	0.09310	N	1	B;B	0.28291	0.206;0.071	B;B	0.15052	0.012;0.0	T	0.02721	-1.1119	10	0.13470	T	0.59	-18.8687	0.4937	0.00568	0.214:0.1598:0.2486:0.3776	.	286;236	C9JIU8;O00584	.;RNT2_HUMAN	Q	198;236;286;236;236	ENSP00000424947:R198Q;ENSP00000426455:R236Q;ENSP00000422846:R236Q;ENSP00000426059:R236Q	ENSP00000424947:R198Q	R	-	2	0	RNASET2	167263130	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	-0.717000	0.04986	-0.367000	0.08052	-0.291000	0.09656	CGG		0.542	RNASET2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043089.2	NM_003730		14	275	0	0	0	1	0	14	275				
LIN54	132660	broad.mit.edu	37	4	83905831	83905831	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr4:83905831G>C	ENST00000340417.3	-	2	544	c.167C>G	c.(166-168)tCt>tGt	p.S56C	LIN54_ENST00000510557.1_Intron|LIN54_ENST00000442461.2_Intron|LIN54_ENST00000505397.1_Missense_Mutation_p.S56C|LIN54_ENST00000395282.2_Missense_Mutation_p.S56C|LIN54_ENST00000506560.1_Missense_Mutation_p.S56C|LIN54_ENST00000395283.2_Missense_Mutation_p.S56C|LIN54_ENST00000446851.2_Intron	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 DREAM MuvB core complex component	56					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)	p.S56C(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				CGTGGCTGTAGAGTCACCAGT	0.408																																						ENST00000340417.3																			1	Substitution - Missense(1)	p.S56C(1)	breast(1)	breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14						c.(166-168)tCt>tGt		lin-54 homolog (C. elegans)							235.0	219.0	224.0					4																	83905831		2203	4300	6503	SO:0001583	missense	132660				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr4:83905831G>C	BX537919	CCDS3599.1, CCDS47089.1, CCDS75157.1	4q21.22	2014-07-17	2014-07-17		ENSG00000189308	ENSG00000189308			25397	protein-coding gene	gene with protein product	"""CXC domain containing 1"""	613367	"""lin-54 homolog (C. elegans)"""			21498570	Standard	XM_005262749		Approved	MIP120, DKFZp686L1814, JC8.6, CXCDC1	uc003hnx.3	Q6MZP7	OTTHUMG00000130287	ENST00000340417.3:c.167C>G	4.37:g.83905831G>C	ENSP00000341947:p.Ser56Cys					LIN54_ENST00000505397.1_Missense_Mutation_p.S56C|LIN54_ENST00000446851.2_Intron|LIN54_ENST00000395283.2_Missense_Mutation_p.S56C|LIN54_ENST00000395282.2_Missense_Mutation_p.S56C|LIN54_ENST00000442461.2_Intron|LIN54_ENST00000506560.1_Missense_Mutation_p.S56C|LIN54_ENST00000510557.1_Intron	p.S56C	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN			2	544	-		Hepatocellular(203;0.114)	56					Q32M68|Q32M69|Q6N071|Q76B60	Missense_Mutation	SNP	ENST00000340417.3	37	c.167C>G	CCDS3599.1	.	.	.	.	.	.	.	.	.	.	G	9.494	1.101405	0.20632	.	.	ENSG00000189308	ENST00000340417;ENST00000395283;ENST00000395282;ENST00000506560;ENST00000505397	.	.	.	5.36	5.36	0.76844	.	0.600069	0.17466	N	0.173277	T	0.42562	0.1208	N	0.14661	0.345	0.80722	D	1	B;B	0.10296	0.003;0.0	B;B	0.06405	0.002;0.0	T	0.26950	-1.0088	9	0.44086	T	0.13	-10.6014	14.6567	0.68838	0.0:0.1452:0.8548:0.0	.	56;56	Q6MZP7-2;Q6MZP7	.;LIN54_HUMAN	C	56	.	ENSP00000341947:S56C	S	-	2	0	LIN54	84124855	1.000000	0.71417	0.998000	0.56505	0.062000	0.15995	4.430000	0.59907	2.505000	0.84491	0.655000	0.94253	TCT		0.408	LIN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252626.2	NM_194282		10	52	0	0	0	1	0	10	52				
RBM33	155435	broad.mit.edu	37	7	155538268	155538268	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr7:155538268A>T	ENST00000401878.3	+	14	3149	c.2951A>T	c.(2950-2952)aAg>aTg	p.K984M	RBM33_ENST00000341148.3_5'Flank	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	984							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		ATCAGCTCCAAGGTCAGGGTG	0.522																																						ENST00000401878.3																			0				breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27						c.(2950-2952)aAg>aTg		RNA binding motif protein 33							32.0	33.0	33.0					7																	155538268		2203	4300	6503	SO:0001583	missense	155435						nucleotide binding|RNA binding	g.chr7:155538268A>T	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"""RNA binding motif (RRM) containing"""	27223	protein-coding gene	gene with protein product			"""proline rich 8"""	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.2951A>T	7.37:g.155538268A>T	ENSP00000384160:p.Lys984Met						p.K984M	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)	14	3149	+	all_neural(206;0.101)	all_hematologic(28;0.0592)	984					A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Missense_Mutation	SNP	ENST00000401878.3	37	c.2951A>T	CCDS5941.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.6|22.6	4.310075|4.310075	0.81247|0.81247	.|.	.|.	ENSG00000184863|ENSG00000184863	ENST00000401878|ENST00000392761	T|.	0.68025|.	-0.3|.	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	0.000000|.	0.64402|.	D|.	0.000004|.	T|T	0.73040|0.73040	0.3536|0.3536	M|M	0.65498|0.65498	2.005|2.005	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	T|T	0.72246|0.72246	-0.4349|-0.4349	10|5	0.87932|.	D|.	0|.	.|.	16.1354|16.1354	0.81481|0.81481	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	701;984|.	B4DVQ2;Q96EV2|.	.;RBM33_HUMAN|.	M|W	984|756	ENSP00000384160:K984M|.	ENSP00000384160:K984M|.	K|R	+|+	2|1	0|2	RBM33|RBM33	155231029|155231029	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	8.424000|8.424000	0.90267|0.90267	2.207000|2.207000	0.71202|0.71202	0.533000|0.533000	0.62120|0.62120	AAG|AGG		0.522	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408		4	12	0	0	0	1	0	4	12				
USP34	9736	broad.mit.edu	37	2	61510333	61510333	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr2:61510333C>A	ENST00000398571.2	-	37	5021	c.4945G>T	c.(4945-4947)Gat>Tat	p.D1649Y		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1649					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.D1649H(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TGATCGCTATCAGCAAGGCTA	0.338																																						ENST00000398571.2																			1	Substitution - Missense(1)	p.D1649H(1)	lung(1)	autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(4945-4947)Gat>Tat		ubiquitin specific peptidase 34							90.0	86.0	87.0					2																	61510333		1859	4104	5963	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61510333C>A	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.4945G>T	2.37:g.61510333C>A	ENSP00000381577:p.Asp1649Tyr						p.D1649Y	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		37	5021	-			1649					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.4945G>T	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	C	32	5.135079	0.94517	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.03635	3.86	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.13157	0.0319	L	0.36672	1.1	0.80722	D	1	D	0.67145	0.996	D	0.72075	0.976	T	0.00770	-1.1573	10	0.66056	D	0.02	.	19.9059	0.97007	0.0:1.0:0.0:0.0	.	1649	Q70CQ2	UBP34_HUMAN	Y	1497;1497;1649	ENSP00000381577:D1649Y	ENSP00000263989:D1497Y	D	-	1	0	USP34	61363837	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.693000	0.91896	0.655000	0.94253	GAT		0.338	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			4	24	1	0	1.024e-07	1	1.10108e-07	4	24				
ARID1A	8289	broad.mit.edu	37	1	27099905	27099905	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:27099905C>T	ENST00000324856.7	+	15	4155	c.3784C>T	c.(3784-3786)Cgt>Tgt	p.R1262C	ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000457599.2_Missense_Mutation_p.R1262C|ARID1A_ENST00000374152.2_Missense_Mutation_p.R879C	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1262					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCCCTACAGTCGTGCTGCCGG	0.592			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(3784-3786)Cgt>Tgt		AT rich interactive domain 1A (SWI-like)							64.0	61.0	62.0					1																	27099905		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27099905C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3784C>T	1.37:g.27099905C>T	ENSP00000320485:p.Arg1262Cys					ARID1A_ENST00000457599.2_Missense_Mutation_p.R1262C|ARID1A_ENST00000374152.2_Missense_Mutation_p.R879C|ARID1A_ENST00000540690.1_5'UTR	p.R1262C	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	15	4155	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1262					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.3784C>T	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.00|15.00	2.702186|2.702186	0.48307|0.48307	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152|ENST00000430799	T;T;T|T	0.03441|0.03553	4.07;3.96;3.93|3.89	5.02|5.02	5.02|5.02	0.67125|0.67125	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.12178|0.12178	0.0296|0.0296	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.999;1.0;1.0;1.0|.	P;P;P;P|.	0.60682|.	0.804;0.759;0.878;0.759|.	T|T	0.00303|0.00303	-1.1833|-1.1833	10|7	0.56958|0.87932	D|D	0.05|0	-0.9968|-0.9968	18.5413|18.5413	0.91029|0.91029	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	879;1262;1262;915|.	O14497-3;O14497;O14497-2;Q4LE49|.	.;ARI1A_HUMAN;.;.|.	C|L	1262;1262;879|158	ENSP00000320485:R1262C;ENSP00000387636:R1262C;ENSP00000363267:R879C|ENSP00000390317:S158L	ENSP00000320485:R1262C|ENSP00000390317:S158L	R|S	+|+	1|2	0|0	ARID1A|ARID1A	26972492|26972492	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	4.352000|4.352000	0.59404|0.59404	2.627000|2.627000	0.88993|0.88993	0.655000|0.655000	0.94253|0.94253	CGT|TCG		0.592	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		6	46	0	0	0	1	0	6	46				
OR2G2	81470	broad.mit.edu	37	1	247752053	247752053	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:247752053G>A	ENST00000320065.1	+	1	392	c.392G>A	c.(391-393)cGt>cAt	p.R131H	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	131						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R131H(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GCTGTCTGCCGTCCTCTCCAT	0.552																																						ENST00000320065.1																			1	Substitution - Missense(1)	p.R131H(1)	large_intestine(1)	endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(391-393)cGt>cAt		olfactory receptor, family 2, subfamily G, member 2							288.0	236.0	253.0					1																	247752053		2203	4300	6503	SO:0001583	missense	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247752053G>A	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.392G>A	1.37:g.247752053G>A	ENSP00000326349:p.Arg131His					RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	p.R131H	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	392	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		131					Q5JQT2|Q6IEZ0	Missense_Mutation	SNP	ENST00000320065.1	37	c.392G>A	CCDS31092.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.409306	0.25378	.	.	ENSG00000177489	ENST00000320065	T	0.00554	6.64	4.29	2.35	0.29111	GPCR, rhodopsin-like superfamily (1);	0.250332	0.21722	U	0.070115	T	0.00412	0.0013	L	0.28694	0.88	0.09310	N	1	B	0.21821	0.061	B	0.15870	0.014	T	0.48433	-0.9036	10	0.59425	D	0.04	.	4.8711	0.13633	0.2013:0.1753:0.6234:0.0	.	131	Q8NGZ5	OR2G2_HUMAN	H	131	ENSP00000326349:R131H	ENSP00000326349:R131H	R	+	2	0	OR2G2	245818676	0.000000	0.05858	0.153000	0.22517	0.699000	0.40488	-0.025000	0.12413	1.006000	0.39211	0.591000	0.81541	CGT		0.552	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			21	131	0	0	0	1	0	21	131				
IKZF2	22807	broad.mit.edu	37	2	213921699	213921699	+	Silent	SNP	G	G	A	rs374835918		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr2:213921699G>A	ENST00000434687.1	-	5	573	c.264C>T	c.(262-264)agC>agT	p.S88S	IKZF2_ENST00000342002.2_Silent_p.S94S|IKZF2_ENST00000413091.3_Silent_p.S88S|IKZF2_ENST00000457361.1_Silent_p.S88S|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000451136.2_Silent_p.S88S|IKZF2_ENST00000421754.2_Silent_p.S88S|IKZF2_ENST00000374319.4_Silent_p.S88S			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	88					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CAGCCACCTCGCTGCTCTCAA	0.527																																						ENST00000457361.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(262-264)agC>agT		IKAROS family zinc finger 2 (Helios)		G	,	0,4406		0,0,2203	122.0	110.0	114.0		264,264	3.9	1.0	2		114	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	IKZF2	NM_001079526.1,NM_016260.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	88/501,88/527	213921699	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:213921699G>A	AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13177	protein-coding gene	gene with protein product		606234	"""zinc finger protein, subfamily 1A, 2 (Helios)"""	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.264C>T	2.37:g.213921699G>A						IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000451136.2_Silent_p.S88S|IKZF2_ENST00000374319.4_Silent_p.S88S|IKZF2_ENST00000413091.3_Silent_p.S88S|IKZF2_ENST00000434687.1_Silent_p.S88S|IKZF2_ENST00000342002.2_Silent_p.S94S|IKZF2_ENST00000421754.2_Silent_p.S88S	p.S88S	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)	4	432	-		Esophageal squamous(248;0.0559)|Renal(323;0.218)	88					Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Silent	SNP	ENST00000434687.1	37	c.264C>T	CCDS2395.1																																																																																				0.527	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	NM_016260		14	62	0	0	0	1	0	14	62				
IPO8	10526	broad.mit.edu	37	12	30792496	30792496	+	Silent	SNP	A	A	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr12:30792496A>G	ENST00000256079.4	-	21	2780	c.2442T>C	c.(2440-2442)acT>acC	p.T814T	IPO8_ENST00000544829.1_Silent_p.T609T	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	814					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TAAACTGTACAGTGATAGGTC	0.383																																						ENST00000256079.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52						c.(2440-2442)acT>acC		importin 8							155.0	143.0	147.0					12																	30792496		2203	4300	6503	SO:0001819	synonymous_variant	10526				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	g.chr12:30792496A>G	U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.2442T>C	12.37:g.30792496A>G						IPO8_ENST00000544829.1_Silent_p.T609T	p.T814T	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN			21	2780	-	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		814					B7Z7M3	Silent	SNP	ENST00000256079.4	37	c.2442T>C	CCDS8719.1																																																																																				0.383	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390		18	47	0	0	0	1	0	18	47				
FRMD1	79981	broad.mit.edu	37	6	168475980	168475980	+	Silent	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr6:168475980C>T	ENST00000283309.6	-	2	313	c.249G>A	c.(247-249)gtG>gtA	p.V83V	FRMD1_ENST00000440994.2_Silent_p.V15V	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	83	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CCACGTTGCACACTTGCTGGA	0.632																																					GBM(50;8 1094 9538 34399)|Ovarian(80;676 1857 8675 49015)	ENST00000283309.6																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19						c.(247-249)gtG>gtA		FERM domain containing 1							84.0	78.0	80.0					6																	168475980		2203	4300	6503	SO:0001819	synonymous_variant	79981					cytoskeleton	binding	g.chr6:168475980C>T		CCDS5306.1, CCDS47518.1	6q27	2008-10-23			ENSG00000153303	ENSG00000153303			21240	protein-coding gene	gene with protein product							Standard	NM_001122841		Approved	FLJ00181, DKFZp434O0117, FLJ40260, FLJ22615, bA164L23.1	uc003qwo.4	Q8N878	OTTHUMG00000016037	ENST00000283309.6:c.249G>A	6.37:g.168475980C>T						FRMD1_ENST00000440994.2_Silent_p.V15V	p.V83V	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	2	313	-		Breast(66;1.07e-05)|Ovarian(120;0.0728)	83			FERM.		B2RNV8|B3KUM6|Q5SZU7|Q9UFB0	Silent	SNP	ENST00000283309.6	37	c.249G>A	CCDS5306.1																																																																																				0.632	FRMD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362513.2	NM_024919		13	89	0	0	0	1	0	13	89				
ZNF831	128611	broad.mit.edu	37	20	57766863	57766863	+	Silent	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr20:57766863C>G	ENST00000371030.2	+	1	789	c.789C>G	c.(787-789)acC>acG	p.T263T		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	263							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ATGTGAGGACCGAAGCTGCTC	0.657																																						ENST00000371030.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(787-789)acC>acG		zinc finger protein 831							52.0	60.0	57.0					20																	57766863		2016	4173	6189	SO:0001819	synonymous_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57766863C>G	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.789C>G	20.37:g.57766863C>G							p.T263T	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	789	+	all_lung(29;0.0085)		263					Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	c.789C>G	CCDS42894.1																																																																																				0.657	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		17	62	0	0	0	1	0	17	62				
LPCAT1	79888	broad.mit.edu	37	5	1463913	1463913	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr5:1463913G>A	ENST00000283415.3	-	14	1590	c.1458C>T	c.(1456-1458)ttC>ttT	p.F486F	LPCAT1_ENST00000503252.1_5'UTR	NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	486	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|negative regulation of phosphatidylcholine biosynthetic process (GO:2001246)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein catabolic process (GO:0045732)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|surfactant homeostasis (GO:0043129)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphocholine O-acyltransferase activity (GO:0047159)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|1-alkylglycerophosphocholine O-acyltransferase activity (GO:0047191)|calcium ion binding (GO:0005509)	p.F486F(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		ATTCCTCTGCGAAGGCAGGGT	0.527																																						ENST00000283415.3																			1	Substitution - coding silent(1)	p.F486F(1)	large_intestine(1)	breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1456-1458)ttC>ttT		lysophosphatidylcholine acyltransferase 1							124.0	120.0	122.0					5																	1463913		2203	4300	6503	SO:0001819	synonymous_variant	79888				phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding	g.chr5:1463913G>A	BC020166	CCDS3864.1	5p15.33	2013-01-10	2007-12-17	2007-12-17	ENSG00000153395	ENSG00000153395		"""EF-hand domain containing"""	25718	protein-coding gene	gene with protein product		610472	"""acyltransferase like 2"""	AYTL2		8619474, 16704971	Standard	NM_024830		Approved	FLJ12443	uc003jcm.3	Q8NF37	OTTHUMG00000131017	ENST00000283415.3:c.1458C>T	5.37:g.1463913G>A						LPCAT1_ENST00000503252.1_5'UTR	p.F486F	NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)	14	1590	-			486			EF-hand 2.		Q1HAQ1|Q7Z4G6|Q8N3U7|Q8WUL8|Q9GZW6	Silent	SNP	ENST00000283415.3	37	c.1458C>T	CCDS3864.1																																																																																				0.527	LPCAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304032.1	NM_024830		24	135	0	0	0	1	0	24	135				
NOS1AP	9722	broad.mit.edu	37	1	162302876	162302876	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:162302876C>A	ENST00000361897.5	+	5	816	c.414C>A	c.(412-414)agC>agA	p.S138R	NOS1AP_ENST00000530878.1_Missense_Mutation_p.S133R	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	138	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			ATGGTGCCAGCAATATCTTCA	0.433																																						ENST00000361897.5																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32						c.(412-414)agC>agA		nitric oxide synthase 1 (neuronal) adaptor protein							119.0	110.0	113.0					1																	162302876		2203	4300	6503	SO:0001583	missense	9722				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	g.chr1:162302876C>A	AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.414C>A	1.37:g.162302876C>A	ENSP00000355133:p.Ser138Arg					NOS1AP_ENST00000530878.1_Missense_Mutation_p.S133R	p.S138R	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0537)		5	816	+	all_hematologic(112;0.203)		138			PID.		B7ZLF5|O43564|Q3T551|Q5VU95	Missense_Mutation	SNP	ENST00000361897.5	37	c.414C>A	CCDS1237.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.420378	0.83559	.	.	ENSG00000198929	ENST00000530878;ENST00000361897	T;T	0.20598	2.06;2.06	5.56	5.56	0.83823	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.37128	0.0992	M	0.81802	2.56	.	.	.	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.77004	0.989;0.988;0.989	T	0.43540	-0.9385	9	0.87932	D	0	.	10.4628	0.44590	0.0:0.9119:0.0:0.0881	.	133;133;138	E9PSG0;B7ZLF5;O75052	.;.;CAPON_HUMAN	R	133;138	ENSP00000431586:S133R;ENSP00000355133:S138R	ENSP00000355133:S138R	S	+	3	2	NOS1AP	160569500	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.198000	0.42705	2.601000	0.87937	0.655000	0.94253	AGC		0.433	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2	NM_014697		6	30	1	0	0.0215528	1	0.0219181	6	30				
UGGT2	55757	broad.mit.edu	37	13	96505887	96505887	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr13:96505887C>G	ENST00000376747.3	-	36	4264	c.4194G>C	c.(4192-4194)aaG>aaC	p.K1398N		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1398	Glucosyltransferase.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TCCTGAACTTCTTGAGATCCA	0.388																																						ENST00000376747.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						c.(4192-4194)aaG>aaC		UDP-glucose glycoprotein glucosyltransferase 2							97.0	89.0	92.0					13																	96505887		2203	4300	6503	SO:0001583	missense	55757				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	g.chr13:96505887C>G	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.4194G>C	13.37:g.96505887C>G	ENSP00000365938:p.Lys1398Asn						p.K1398N	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN			36	4264	-			1398			Glucosyltransferase.		A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	c.4194G>C	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318488	0.81469	.	.	ENSG00000102595	ENST00000376747	T	0.46451	0.87	5.4	5.4	0.78164	.	0.049222	0.85682	D	0.000000	T	0.56441	0.1985	L	0.57536	1.79	0.80722	D	1	D	0.61080	0.989	D	0.64595	0.927	T	0.52586	-0.8556	10	0.36615	T	0.2	-7.3202	12.5162	0.56034	0.0:0.9235:0.0:0.0765	.	1398	Q9NYU1	UGGG2_HUMAN	N	1398	ENSP00000365938:K1398N	ENSP00000365938:K1398N	K	-	3	2	UGGT2	95303888	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.688000	0.54699	2.528000	0.85240	0.655000	0.94253	AAG		0.388	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		6	12	0	0	0	1	0	6	12				
ZBTB40	9923	broad.mit.edu	37	1	22850916	22850916	+	Silent	SNP	C	C	T	rs139786086	byFrequency	TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:22850916C>T	ENST00000375647.4	+	17	3711	c.3504C>T	c.(3502-3504)gcC>gcT	p.A1168A	ZBTB40_ENST00000404138.1_Silent_p.A1168A|ZBTB40_ENST00000374651.4_Silent_p.A1056A	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	1168					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		AAACCCAGGCCGCAGCCTCAC	0.552																																						ENST00000404138.1																			0				endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(3502-3504)gcC>gcT		zinc finger and BTB domain containing 40		C	,	3,4403	6.2+/-15.9	0,3,2200	61.0	62.0	61.0		3504,3504	-3.0	0.8	1	dbSNP_134	61	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ZBTB40	NM_001083621.1,NM_014870.3	,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,	1168/1240,1168/1240	22850916	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	9923				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:22850916C>T	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.3504C>T	1.37:g.22850916C>T						ZBTB40_ENST00000375647.4_Silent_p.A1168A|ZBTB40_ENST00000374651.4_Silent_p.A1056A	p.A1168A	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	18	4015	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	1168					O75066|Q5TFU5|Q8N1R1	Silent	SNP	ENST00000375647.4	37	c.3504C>T	CCDS224.1																																																																																				0.552	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		23	42	0	0	0	1	0	23	42				
SSX6	280657	broad.mit.edu	37	X	47972622	47972622	+	IGR	SNP	G	G	A	rs138080210		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chrX:47972622G>A								snoU13 (31383 upstream) : SSX6 (3843 downstream)																							GAATCATCCCGAAGGTGAGTA	0.423													.|||	1	0.000264901	0.0	0.0	3775	,	,		15131	0.0		0.001	False		,,,				2504	0.0					ENST00000319275.3																			0				large_intestine(6)|lung(4)|skin(2)|stomach(1)	13						c.(31-33)ccG>ccA				G		0,2618		0,0,1114,390	122.0	131.0	128.0		327	-3.0	0.0	X	dbSNP_134	128	1,4330		0,1,1627,1075	no	coding-synonymous	LOC100509575	NM_001205103.1		0,1,2741,1465	AA,AG,GG,G		0.0231,0.0,0.0144		109/132	47972622	1,6948	1504	2703	4207	SO:0001628	intergenic_variant	280657							g.chrX:47972622G>A																													X.37:g.47972622G>A						SSX6_ENST00000376932.2_Silent_p.P109P	p.P11P							5	399	+									Silent	SNP		37	c.33G>A																																																																																				0	0.423									22	54	0	0	0	1	0	22	54				
KLHL30	377007	broad.mit.edu	37	2	239049882	239049882	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr2:239049882G>C	ENST00000409223.1	+	2	594	c.487G>C	c.(487-489)Gag>Cag	p.E163Q	KLHL30_ENST00000305959.4_Missense_Mutation_p.E145Q			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	163	BACK.									lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		AGAGAACTTTGAGGCTGTGGC	0.652																																						ENST00000409223.1																			0				lung(4)	4						c.(487-489)Gag>Cag		kelch-like family member 30							21.0	26.0	24.0					2																	239049882		2140	4249	6389	SO:0001583	missense	377007							g.chr2:239049882G>C		CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"""Kelch-like"", ""BTB/POZ domain containing"""	24770	protein-coding gene	gene with protein product			"""kelch-like 30 (Drosophila)"""				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.487G>C	2.37:g.239049882G>C	ENSP00000386389:p.Glu163Gln					KLHL30_ENST00000305959.4_Missense_Mutation_p.E145Q	p.E163Q			Q0D2K2	KLH30_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	2	594	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	163			BACK.		Q6ZUS1	Missense_Mutation	SNP	ENST00000409223.1	37	c.487G>C	CCDS46555.2	.	.	.	.	.	.	.	.	.	.	g	22.4	4.290611	0.80914	.	.	ENSG00000168427	ENST00000409223;ENST00000305959	T;T	0.69175	-0.38;-0.38	5.82	5.82	0.92795	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.77103	0.4081	L	0.49256	1.55	0.53005	D	0.999964	D	0.89917	1.0	D	0.91635	0.999	T	0.69335	-0.5172	10	0.14252	T	0.57	.	18.862	0.92276	0.0:0.0:1.0:0.0	.	163	Q0D2K2	KLH30_HUMAN	Q	163;145	ENSP00000386389:E163Q;ENSP00000302386:E145Q	ENSP00000302386:E145Q	E	+	1	0	KLHL30	238714621	1.000000	0.71417	0.988000	0.46212	0.954000	0.61252	9.589000	0.98235	2.753000	0.94483	0.651000	0.88453	GAG		0.652	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328518.1	NM_198582		5	22	0	0	0	1	0	5	22				
ZNF878	729747	broad.mit.edu	37	19	12154831	12154831	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr19:12154831G>T	ENST00000547628.1	-	4	1522	c.1385C>A	c.(1384-1386)tCt>tAt	p.S462Y	CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000602107.1_Missense_Mutation_p.S509Y|CTD-2006C1.2_ENST00000591898.1_RNA	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	462					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AGAATTAGAAGAAATGAAGGC	0.388																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(1525-1527)tCt>tAt		zinc finger protein 878							53.0	60.0	57.0					19																	12154831		2189	4293	6482	SO:0001583	missense	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12154831G>T		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.1385C>A	19.37:g.12154831G>T	ENSP00000447931:p.Ser462Tyr					ZNF878_ENST00000547628.1_Missense_Mutation_p.S462Y|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron	p.S509Y			C9JN71	ZN878_HUMAN			5	1525	-			462						Missense_Mutation	SNP	ENST00000547628.1	37	c.1526C>A	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.469536	0.01044	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.02067	4.47	1.3	0.00835	0.14074	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01905	0.0060	L	0.49126	1.545	0.09310	N	1	B	0.23128	0.08	B	0.24269	0.052	T	0.49606	-0.8922	9	0.02654	T	1	.	2.7175	0.05191	0.1843:0.0:0.3929:0.4228	.	462	C9JN71	ZN878_HUMAN	Y	462;509	ENSP00000447931:S462Y	ENSP00000447931:S462Y	S	-	2	0	AC022415.4;ZNF878	12015831	0.000000	0.05858	0.002000	0.10522	0.901000	0.52897	-1.604000	0.02076	-0.149000	0.11215	0.313000	0.20887	TCT		0.388	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		5	25	1	0	0.014758	1	0.0150592	5	25				
TOP1MT	116447	broad.mit.edu	37	8	144398195	144398195	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr8:144398195T>C	ENST00000329245.4	-	11	1466	c.1432A>G	c.(1432-1434)Aag>Gag	p.K478E	TOP1MT_ENST00000523676.1_Missense_Mutation_p.K380E|TOP1MT_ENST00000519148.1_Missense_Mutation_p.K380E|TOP1MT_ENST00000521193.1_Missense_Mutation_p.K380E|AC087793.1_ENST00000585120.1_RNA	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	478					DNA replication (GO:0006260)|DNA topological change (GO:0006265)	chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	TGCATCGACTTCTCGAACGTA	0.607																																						ENST00000523676.1																			0				endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23						c.(1138-1140)Aag>Gag		topoisomerase (DNA) I, mitochondrial	Irinotecan(DB00762)|Topotecan(DB01030)						168.0	157.0	161.0					8																	144398195		2203	4300	6503	SO:0001583	missense	116447				DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity	g.chr8:144398195T>C	AF349018	CCDS6400.1, CCDS59115.1	8q24.3	2006-04-12				ENSG00000184428			29787	protein-coding gene	gene with protein product		606387				11526219	Standard	NM_052963		Approved		uc003yxz.4	Q969P6		ENST00000329245.4:c.1432A>G	8.37:g.144398195T>C	ENSP00000328835:p.Lys478Glu					TOP1MT_ENST00000521193.1_Missense_Mutation_p.K380E|TOP1MT_ENST00000519148.1_Missense_Mutation_p.K380E|TOP1MT_ENST00000329245.4_Missense_Mutation_p.K478E	p.K380E			Q969P6	TOP1M_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		12	1543	-	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		478					B7ZAR5|E7ES89|Q86ST4|Q86V82	Missense_Mutation	SNP	ENST00000329245.4	37	c.1138A>G	CCDS6400.1	.	.	.	.	.	.	.	.	.	.	T	6.427	0.446843	0.12223	.	.	ENSG00000184428	ENST00000329245;ENST00000521193;ENST00000519148;ENST00000523676	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	3.37	2.13	0.27403	DNA breaking-rejoining enzyme, catalytic core (1);DNA topoisomerase I, C-terminal, eukaryotic-type (1);DNA topoisomerase I, catalytic core, alpha/beta subdomain, eukaryotic-type (1);DNA topoisomerases I, dispensable insert, eukaryotic-type (1);DNA topoisomerase I, catalytic core, eukaryotic-type (1);	0.462231	0.17337	N	0.177893	T	0.37046	0.0989	L	0.49571	1.57	0.53688	D	0.999976	B;B	0.19445	0.036;0.007	B;B	0.18263	0.021;0.016	T	0.08638	-1.0712	10	0.20519	T	0.43	-12.462	8.0556	0.30604	0.0:0.1037:0.0:0.8963	.	273;478	E7ESI1;Q969P6	.;TOP1M_HUMAN	E	478;380;380;380	ENSP00000328835:K478E;ENSP00000428369:K380E;ENSP00000429169:K380E;ENSP00000429181:K380E	ENSP00000328835:K478E	K	-	1	0	TOP1MT	144469570	1.000000	0.71417	0.020000	0.16555	0.260000	0.26232	4.904000	0.63279	0.276000	0.22118	0.496000	0.49642	AAG		0.607	TOP1MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381247.3	NM_052963		17	143	0	0	0	1	0	17	143				
ZNF396	252884	broad.mit.edu	37	18	32949319	32949319	+	Nonsense_Mutation	SNP	G	G	A	rs369731655		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr18:32949319G>A	ENST00000589332.1	-	4	999	c.868C>T	c.(868-870)Cga>Tga	p.R290*	ZNF396_ENST00000306346.1_Nonsense_Mutation_p.R290*			Q96N95	ZN396_HUMAN	zinc finger protein 396	290					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						ATTGCGCTTCGGCTGAATGCC	0.448																																						ENST00000306346.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						c.(868-870)Cga>Tga		zinc finger protein 396		G	stop/ARG	0,4406		0,0,2203	117.0	113.0	114.0		868	0.5	0.3	18		114	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	ZNF396	NM_145756.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		290/334	32949319	1,13005	2203	4300	6503	SO:0001587	stop_gained	252884				viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:32949319G>A	AK055775	CCDS11913.1	18p12	2013-01-09			ENSG00000186496	ENSG00000186496		"""-"", ""Zinc fingers, C2H2-type"""	18824	protein-coding gene	gene with protein product		609600					Standard	NM_145756		Approved	ZSCAN14, FLJ31213	uc010xcf.1	Q96N95	OTTHUMG00000132562	ENST00000589332.1:c.868C>T	18.37:g.32949319G>A	ENSP00000466500:p.Arg290*					ZNF396_ENST00000589332.1_Nonsense_Mutation_p.R290*	p.R290*	NM_145756.2	NP_665699.1	Q96N95	ZN396_HUMAN			4	999	-			290					A1L3V0|Q8NF98|Q8TD80	Nonsense_Mutation	SNP	ENST00000589332.1	37	c.868C>T		.	.	.	.	.	.	.	.	.	.	G	13.33	2.205733	0.39003	0.0	1.16E-4	ENSG00000186496	ENST00000306346;ENST00000399057	.	.	.	3.4	0.484	0.16825	.	0.275955	0.18808	U	0.130584	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.5357	0.12028	0.2094:0.0:0.6149:0.1757	.	.	.	.	X	290	.	ENSP00000302310:R290X	R	-	1	2	ZNF396	31203317	0.000000	0.05858	0.309000	0.25155	0.122000	0.20287	-0.496000	0.06436	0.081000	0.16988	-0.133000	0.14855	CGA		0.448	ZNF396-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255766.1	NM_145756		10	32	0	0	0	1	0	10	32				
ARSF	416	broad.mit.edu	37	X	3002435	3002435	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chrX:3002435G>C	ENST00000381127.1	+	6	779	c.558G>C	c.(556-558)gaG>gaC	p.E186D	ARSF_ENST00000359361.2_Missense_Mutation_p.E186D|ARSF_ENST00000537104.1_Missense_Mutation_p.E186D	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	186					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TAGCCTTTGAGAGTCAGCTCT	0.527																																						ENST00000381127.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38						c.(556-558)gaG>gaC		arylsulfatase F							146.0	111.0	123.0					X																	3002435		2203	4300	6503	SO:0001583	missense	416					extracellular region	arylsulfatase activity|metal ion binding	g.chrX:3002435G>C	X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"""Arylsulfatase family"""	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.558G>C	X.37:g.3002435G>C	ENSP00000370519:p.Glu186Asp					ARSF_ENST00000537104.1_Missense_Mutation_p.E186D|ARSF_ENST00000359361.2_Missense_Mutation_p.E186D	p.E186D	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN			6	779	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	186					Q8TCC5	Missense_Mutation	SNP	ENST00000381127.1	37	c.558G>C	CCDS14123.1	.	.	.	.	.	.	.	.	.	.	G	9.978	1.227385	0.22542	.	.	ENSG00000062096	ENST00000381127;ENST00000537104;ENST00000359361	D;D;D	0.98512	-4.97;-4.97;-4.97	3.44	-3.06	0.05379	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	1.668100	0.03508	U	0.219088	D	0.94565	0.8249	L	0.35341	1.055	0.09310	N	1	B	0.29571	0.249	B	0.36030	0.216	D	0.90138	0.4211	10	0.13108	T	0.6	.	0.7709	0.01024	0.3107:0.1214:0.3207:0.2472	.	186	P54793	ARSF_HUMAN	D	186	ENSP00000370519:E186D;ENSP00000445594:E186D;ENSP00000352319:E186D	ENSP00000352319:E186D	E	+	3	2	ARSF	3012435	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.344000	0.19962	-0.440000	0.07211	-0.337000	0.08149	GAG		0.527	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1			12	65	0	0	0	1	0	12	65				
GPATCH3	63906	broad.mit.edu	37	1	27226714	27226714	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:27226714C>T	ENST00000361720.5	-	1	243	c.220G>A	c.(220-222)Gag>Aag	p.E74K		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	74							nucleic acid binding (GO:0003676)			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		AGCTGGCCCTCAGCGGCTGGG	0.642																																						ENST00000361720.5																			0				endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15						c.(220-222)Gag>Aag		G patch domain containing 3							39.0	43.0	42.0					1																	27226714		2203	4300	6503	SO:0001583	missense	63906					intracellular	nucleic acid binding	g.chr1:27226714C>T	BC007767	CCDS290.1	1p35.3-p35.1	2013-01-28		2006-12-13	ENSG00000198746	ENSG00000198746		"""G patch domain containing"""	25720	protein-coding gene	gene with protein product				GPATC3			Standard	NM_022078		Approved	FLJ12455	uc001bne.3	Q96I76	OTTHUMG00000004229	ENST00000361720.5:c.220G>A	1.37:g.27226714C>T	ENSP00000354645:p.Glu74Lys						p.E74K	NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)	1	243	-		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	74					Q5JYH2|Q8NDJ2|Q9H9Z3	Missense_Mutation	SNP	ENST00000361720.5	37	c.220G>A	CCDS290.1	.	.	.	.	.	.	.	.	.	.	C	2.863	-0.235685	0.05944	.	.	ENSG00000198746	ENST00000361720;ENST00000536641	T	0.30714	1.52	3.76	3.76	0.43208	.	0.737772	0.11715	N	0.536558	T	0.22360	0.0539	L	0.29908	0.895	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.07868	-1.0750	10	0.37606	T	0.19	-7.6611	8.8328	0.35093	0.224:0.776:0.0:0.0	.	74	Q96I76	GPTC3_HUMAN	K	74	ENSP00000354645:E74K	ENSP00000354645:E74K	E	-	1	0	GPATCH3	27099301	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	0.444000	0.21661	2.062000	0.61559	0.655000	0.94253	GAG		0.642	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012181.1	NM_022078		18	66	0	0	0	1	0	18	66				
SYNE2	23224	broad.mit.edu	37	14	64675494	64675494	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr14:64675494G>A	ENST00000344113.4	+	101	18432	c.18220G>A	c.(18220-18222)Gaa>Aaa	p.E6074K	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Missense_Mutation_p.E6036K|SYNE2_ENST00000555002.1_Missense_Mutation_p.E2708K|SYNE2_ENST00000358025.3_Missense_Mutation_p.E6074K|SYNE2_ENST00000357395.3_Missense_Mutation_p.E2459K|SYNE2_ENST00000394768.2_Missense_Mutation_p.E2459K|SYNE2_ENST00000555022.1_5'UTR|SYNE2_ENST00000554805.1_5'Flank	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6074					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GCGAGATATTGAACAACACAG	0.517																																						ENST00000357395.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(7375-7377)Gaa>Aaa		spectrin repeat containing, nuclear envelope 2							117.0	101.0	106.0					14																	64675494		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64675494G>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.18220G>A	14.37:g.64675494G>A	ENSP00000341781:p.Glu6074Lys					SYNE2_ENST00000344113.4_Missense_Mutation_p.E6074K|SYNE2_ENST00000358025.3_Missense_Mutation_p.E6074K|SYNE2_ENST00000394768.2_Missense_Mutation_p.E2459K|SYNE2_ENST00000555002.1_Missense_Mutation_p.E2708K|SYNE2_ENST00000554584.1_Missense_Mutation_p.E6036K|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555022.1_5'UTR	p.E2459K			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	102	18519	+			6074					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.7375G>A	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.272219	0.59649	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000556906	T;T;T;T;T;T;T	0.61392	0.73;0.11;0.73;0.73;0.11;0.11;0.11	5.5	5.5	0.81552	.	0.000000	0.49305	D	0.000160	T	0.80037	0.4550	M	0.84846	2.72	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;1.0;0.999;1.0	D;D;D;D;D	0.91635	0.999;0.979;0.998;0.997;0.994	T	0.82476	-0.0438	10	0.66056	D	0.02	.	19.4052	0.94644	0.0:0.0:1.0:0.0	.	2459;462;6036;6074;6074	Q8WXH0-7;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;SYNE2_HUMAN;.	K	6074;2459;6074;6036;6042;2708;2459;44	ENSP00000350719:E6074K;ENSP00000349969:E2459K;ENSP00000341781:E6074K;ENSP00000452570:E6036K;ENSP00000450831:E2708K;ENSP00000378249:E2459K;ENSP00000452298:E44K	ENSP00000261678:E6042K	E	+	1	0	SYNE2	63745247	1.000000	0.71417	0.389000	0.26208	0.716000	0.41182	9.824000	0.99380	2.600000	0.87896	0.563000	0.77884	GAA		0.517	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		15	40	0	0	0	1	0	15	40				
HPDL	84842	broad.mit.edu	37	1	45793750	45793750	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:45793750delG	ENST00000334815.3	+	1	1206	c.930delG	c.(928-930)cagfs	p.Q310fs		NM_032756.2	NP_116145.1	Q96IR7	HPDL_HUMAN	4-hydroxyphenylpyruvate dioxygenase-like	310					aromatic amino acid family metabolic process (GO:0009072)		4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(166;0.155)					TTGCTCGACAGGGGATCCTGC	0.557																																						ENST00000334815.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(928-930)cafs		4-hydroxyphenylpyruvate dioxygenase-like							89.0	93.0	91.0					1																	45793750		2203	4300	6503	SO:0001589	frameshift_variant	84842				aromatic amino acid family metabolic process		4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding	g.chr1:45793750delG	BC007293	CCDS519.1	1p34.1	2008-02-05	2007-03-14	2007-03-14	ENSG00000186603	ENSG00000186603			28242	protein-coding gene	gene with protein product			"""glyoxalase domain containing 1"""	GLOXD1		12477932	Standard	NM_032756		Approved	MGC15668, 4-HPPD-L	uc001cne.3	Q96IR7	OTTHUMG00000007681	ENST00000334815.3:c.930delG	1.37:g.45793750delG	ENSP00000335060:p.Gln310fs						p.Q310fs	NM_032756.2	NP_116145.1	Q96IR7	HPDL_HUMAN			1	1206	+	Acute lymphoblastic leukemia(166;0.155)		310					B2R9B0	Frame_Shift_Del	DEL	ENST00000334815.3	37	c.930delG	CCDS519.1																																																																																				0.557	HPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020527.1	NM_032756		23	82						23	82	---	---	---	---
NNT	23530	broad.mit.edu	37	5	43628388	43628389	+	Frame_Shift_Ins	INS	-	-	T	rs201968899		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr5:43628388_43628389insT	ENST00000264663.5	+	7	1084_1085	c.863_864insT	c.(862-867)tatgcafs	p.A289fs	NNT_ENST00000344920.4_Frame_Shift_Ins_p.A289fs|NNT_ENST00000512996.2_Frame_Shift_Ins_p.A158fs	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	289					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					CAAGGAGGATATGCAAAAGAGA	0.455																																						ENST00000264663.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(862-864)tgcfs		nicotinamide nucleotide transhydrogenase	NADH(DB00157)																																			SO:0001589	frameshift_variant	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43628388_43628389insT	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.864dupT	5.37:g.43628389_43628389dupT	ENSP00000264663:p.Ala289fs					NNT_ENST00000512996.2_Frame_Shift_Ins_p.C157fs|NNT_ENST00000344920.4_Frame_Shift_Ins_p.C288fs	p.C288fs	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN			7	1084_1085	+	Lung NSC(6;2.58e-06)		288					Q16796|Q2TB60|Q8N3V4	Frame_Shift_Ins	INS	ENST00000264663.5	37	c.863_864insT	CCDS3949.1																																																																																				0.455	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		37	58						37	58	---	---	---	---
AC118138.2	0	broad.mit.edu	37	7	74776112	74776113	+	RNA	INS	-	-	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr7:74776112_74776113insA	ENST00000420642.1	+	0	554																											aaaaacaaaacaaaaaaaaaac	0.401																																						ENST00000420642.1																			0																																																			0							g.chr7:74776112_74776113insA																													7.37:g.74776122_74776122dupA														0	554	+									RNA	INS	ENST00000420642.1	37																																																																																						0.401	AC118138.2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345504.2			2	4						2	4	---	---	---	---
LAMB1	3912	broad.mit.edu	37	7	107603497	107603498	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr7:107603497_107603498insA	ENST00000222399.6	-	15	1939_1940	c.1709_1710insT	c.(1708-1710)atafs	p.I570fs	LAMB1_ENST00000393561.1_Frame_Shift_Ins_p.I594fs|LAMB1_ENST00000393560.1_Frame_Shift_Ins_p.I570fs	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	570	Laminin IV type B. {ECO:0000255|PROSITE- ProRule:PRU00462}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						GCCGCTCCACTATGCTAACCCC	0.45																																						ENST00000393561.1																			0				NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.(1780-1782)agtfs		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)																																			SO:0001589	frameshift_variant	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107603497_107603498insA	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.1710dupT	7.37:g.107603498_107603498dupA	ENSP00000222399:p.Ile570fs					LAMB1_ENST00000393560.1_Frame_Shift_Ins_p.S570fs|LAMB1_ENST00000222399.6_Frame_Shift_Ins_p.S570fs	p.S594fs			P07942	LAMB1_HUMAN			13	1965_1966	-			570			Laminin IV type B.		Q14D91	Frame_Shift_Ins	INS	ENST00000222399.6	37	c.1781_1782insT	CCDS5750.1																																																																																				0.450	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		30	75						30	75	---	---	---	---
TRDV2	28517	broad.mit.edu	37	14	22892202	22892202	+	RNA	DEL	A	A	-			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr14:22892202delA	ENST00000390469.2	+	0	520				AE000661.37_ENST00000537850.1_RNA|AE000661.37_ENST00000514473.2_RNA|AE000661.37_ENST00000535351.1_RNA|AE000661.37_ENST00000541008.1_RNA|AE000661.37_ENST00000545670.1_RNA					T cell receptor delta variable 2																		ctaaaaatacaaaaaaaaaaa	0.547																																						ENST00000514473.2																			0																																																			101929735							g.chr14:22892202delA	X15207		14q11.2	2012-02-07			ENSG00000211821	ENSG00000211821		"""T cell receptors / TRD locus"""	12263	other	T cell receptor gene						2526321	Standard	NG_001332		Approved	hDV102S1, MGC117421			OTTHUMG00000170843		14.37:g.22892202delA						AE000661.37_ENST00000535351.1_RNA|AE000661.37_ENST00000537850.1_RNA|AE000661.37_ENST00000545670.1_RNA|AE000661.37_ENST00000541008.1_RNA								0	225	-									RNA	DEL	ENST00000390469.2	37																																																																																						0.547	TRDV2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000410669.1	NG_001332		3	5						3	5	---	---	---	---
TBX6	6911	broad.mit.edu	37	16	30097569	30097580	+	In_Frame_Del	DEL	CATCCAGATAGC	CATCCAGATAGC	-	rs577918214		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr16:30097569_30097580delCATCCAGATAGC	ENST00000395224.2	-	9	1336_1347	c.1277_1288delGCTATCTGGATG	c.(1276-1290)ggctatctggatgtg>gtg	p.GYLD426del	TBX6_ENST00000279386.2_In_Frame_Del_p.GYLD426del	NM_004608.3	NP_004599.2	O95947	TBX6_HUMAN	T-box 6	426					anatomical structure morphogenesis (GO:0009653)|cell fate specification (GO:0001708)|mesoderm development (GO:0007498)|mesoderm formation (GO:0001707)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						TTGGAGCCCACATCCAGATAGCCCCCAGGCGC	0.665																																						ENST00000395224.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						c.(1276-1290)gtg>g		T-box 6																																				SO:0001651	inframe_deletion	6911				anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:30097569_30097580delCATCCAGATAGC	AJ007989	CCDS10670.1	16p11.2	2008-02-05			ENSG00000149922	ENSG00000149922		"""T-boxes"""	11605	protein-coding gene	gene with protein product		602427				9888994, 9933572	Standard	NM_004608		Approved		uc010veh.2	O95947	OTTHUMG00000132115	ENST00000395224.2:c.1277_1288delGCTATCTGGATG	16.37:g.30097569_30097580delCATCCAGATAGC	ENSP00000378650:p.Gly426_Asp429del					TBX6_ENST00000279386.2_In_Frame_Del_p.GYLDV426del	p.GYLDV426del	NM_004608.3	NP_004599.2	O95947	TBX6_HUMAN			9	1336_1347	-			426					Q8TAS4|Q9HA44	In_Frame_Del	DEL	ENST00000395224.2	37	c.1277_1288delGCTATCTGGATG	CCDS10670.1																																																																																				0.665	TBX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255157.2	NM_004608, NM_080758		7	89						7	89	---	---	---	---
KRTAP4-1	85285	broad.mit.edu	37	17	39340796	39340852	+	In_Frame_Del	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	rs483929|rs543483191|rs79048996|rs1985673|rs2320229|rs483893|rs572749|rs543006020|rs71155126|rs554407371|rs2320230	byFrequency	TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENST00000398472.1	-	1	742_798	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	c.(253-312)cgcccactctgctgtcagaccacctgccaccccagctgtggtatgtccagctgctgccgt>cgt	p.85_104RPLCCQTTCHPSCGMSSCCR>R				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	85	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		Missing (in allele KAP4.10). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC	0.646																																						ENST00000398472.1																			4	Deletion - In frame(4)	p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)	upper_aerodigestive_tract(2)|prostate(2)	kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						c.(253-312)cgt>cg		keratin associated protein 4-1																																				SO:0001651	inframe_deletion	85285					keratin filament		g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	AC006070		17q21.2	2013-06-25			ENSG00000198443	ENSG00000198443		"""Keratin associated proteins"""	18907	protein-coding gene	gene with protein product			"""keratin associated protein 4-10"""	KRTAP4-10		11279113	Standard	NM_033060		Approved	KAP4.1, KAP4.10	uc002hwe.4	Q9BYQ7	OTTHUMG00000132081	ENST00000398472.1:c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	17.37:g.39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENSP00000381489:p.Arg85_Cys103del						p.RPLCCQTTCHPSCGMSSCCR85del			Q9BYQ7	KRA41_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	742_798	-		Breast(137;0.000496)	85		Missing (in allele KAP4.10).	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		A8MWS7|Q3SYF2	In_Frame_Del	DEL	ENST00000398472.1	37	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG																																																																																					0.646	KRTAP4-1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255108.1	NM_033060		62	32						62	32	---	---	---	---
DNM2	1785	broad.mit.edu	37	19	10930720	10930724	+	Frame_Shift_Del	DEL	TCATG	TCATG	-			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr19:10930720_10930724delTCATG	ENST00000355667.6	+	16	1816_1820	c.1736_1740delTCATG	c.(1735-1740)ttcatgfs	p.FM579fs	DNM2_ENST00000359692.6_Frame_Shift_Del_p.FM575fs|DNM2_ENST00000408974.4_Frame_Shift_Del_p.FM575fs|DNM2_ENST00000314646.5_Frame_Shift_Del_p.FM579fs|DNM2_ENST00000389253.4_Frame_Shift_Del_p.FM579fs|MIR199A1_ENST00000385019.1_RNA|DNM2_ENST00000585892.1_Frame_Shift_Del_p.FM579fs	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	579	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GAGAAGGGCTTCATGTCCAACAAGC	0.571			"""F, N, Splice, Mis, O"""		ETP ALL																																	ENST00000314646.5				Rec	yes		19	19p13.2	1785	"""F, N, Splice, Mis, O"""	dynamin 2			L			ETP ALL		0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42						c.(1735-1740)tfs		dynamin 2																																				SO:0001589	frameshift_variant	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10930720_10930724delTCATG		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.1736_1740delTCATG	19.37:g.10930720_10930724delTCATG	ENSP00000347890:p.Phe579fs					DNM2_ENST00000585892.1_Frame_Shift_Del_p.FM579fs|DNM2_ENST00000408974.4_Frame_Shift_Del_p.FM575fs|DNM2_ENST00000355667.6_Frame_Shift_Del_p.FM579fs|DNM2_ENST00000359692.6_Frame_Shift_Del_p.FM575fs|DNM2_ENST00000389253.4_Frame_Shift_Del_p.FM579fs	p.FM579fs			P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		16	1900_1904	+			579			PH.		A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Frame_Shift_Del	DEL	ENST00000355667.6	37	c.1736_1740delTCATG	CCDS45968.1																																																																																				0.571	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		19	110						19	110	---	---	---	---
SPIN3	169981	broad.mit.edu	37	X	57020862	57020863	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chrX:57020862_57020863insT	ENST00000374919.3	-	2	840_841	c.518_519insA	c.(517-519)tatfs	p.Y173fs		NM_001010862.2	NP_001010862.2	Q5JUX0	SPIN3_HUMAN	spindlin family, member 3	173					gamete generation (GO:0007276)					central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						GCTGGTACATATATAATACAGG	0.436																																						ENST00000374919.3																			0				central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(517-519)tatfs		spindlin family, member 3																																				SO:0001589	frameshift_variant	169981				gamete generation			g.chrX:57020862_57020863insT	AL832091	CCDS43963.1	Xp11.22	2008-02-05			ENSG00000204271	ENSG00000204271			27272	protein-coding gene	gene with protein product							Standard	NM_001010862		Approved		uc004dux.1	Q5JUX0	OTTHUMG00000021677	ENST00000374919.3:c.519dupA	X.37:g.57020863_57020863dupT	ENSP00000364054:p.Tyr173fs						p.Y173fs	NM_001010862.2	NP_001010862.2	Q5JUX0	SPIN3_HUMAN			2	840_841	-			173					B2RUW3|B7Z8W2|Q8N5D9	Frame_Shift_Ins	INS	ENST00000374919.3	37	c.518_519insA	CCDS43963.1																																																																																				0.436	SPIN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056908.1	XM_093024		20	35						20	35	---	---	---	---
HPDL	84842	broad.mit.edu	37	1	45793750	45793750	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:45793750delG	ENST00000334815.3	+	1	1206	c.930delG	c.(928-930)cagfs	p.Q310fs		NM_032756.2	NP_116145.1	Q96IR7	HPDL_HUMAN	4-hydroxyphenylpyruvate dioxygenase-like	310					aromatic amino acid family metabolic process (GO:0009072)		4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(166;0.155)					TTGCTCGACAGGGGATCCTGC	0.557																																						ENST00000334815.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(928-930)cafs		4-hydroxyphenylpyruvate dioxygenase-like							89.0	93.0	91.0					1																	45793750		2203	4300	6503	SO:0001589	frameshift_variant	84842				aromatic amino acid family metabolic process		4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding	g.chr1:45793750delG	BC007293	CCDS519.1	1p34.1	2008-02-05	2007-03-14	2007-03-14	ENSG00000186603	ENSG00000186603			28242	protein-coding gene	gene with protein product			"""glyoxalase domain containing 1"""	GLOXD1		12477932	Standard	NM_032756		Approved	MGC15668, 4-HPPD-L	uc001cne.3	Q96IR7	OTTHUMG00000007681	ENST00000334815.3:c.930delG	1.37:g.45793750delG	ENSP00000335060:p.Gln310fs						p.Q310fs	NM_032756.2	NP_116145.1	Q96IR7	HPDL_HUMAN			1	1206	+	Acute lymphoblastic leukemia(166;0.155)		310					B2R9B0	Frame_Shift_Del	DEL	ENST00000334815.3	37	c.930delG	CCDS519.1																																																																																				0.557	HPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020527.1	NM_032756		23	82						23	82	---	---	---	---
LINC01250	101927554	broad.mit.edu	37	2	2910722	2910723	+	lincRNA	INS	-	-	T	rs373675312		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr2:2910722_2910723insT	ENST00000457478.1	-	0	594																											tccaccccctctccccagccca	0.708																																						ENST00000457478.1																			0																																																			101927554							g.chr2:2910722_2910723insT																													2.37:g.2910723_2910723dupT														0	594	-									RNA	INS	ENST00000457478.1	37																																																																																						0.708	AC019118.2-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000322597.1			4	3						4	3	---	---	---	---
NNT	23530	broad.mit.edu	37	5	43628388	43628389	+	Frame_Shift_Ins	INS	-	-	T	rs201968899		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr5:43628388_43628389insT	ENST00000264663.5	+	7	1084_1085	c.863_864insT	c.(862-867)tatgcafs	p.A289fs	NNT_ENST00000344920.4_Frame_Shift_Ins_p.A289fs|NNT_ENST00000512996.2_Frame_Shift_Ins_p.A158fs	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	289					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					CAAGGAGGATATGCAAAAGAGA	0.455																																						ENST00000264663.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(862-864)tgcfs		nicotinamide nucleotide transhydrogenase	NADH(DB00157)																																			SO:0001589	frameshift_variant	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43628388_43628389insT	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.864dupT	5.37:g.43628389_43628389dupT	ENSP00000264663:p.Ala289fs					NNT_ENST00000344920.4_Frame_Shift_Ins_p.C288fs|NNT_ENST00000512996.2_Frame_Shift_Ins_p.C157fs	p.C288fs	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN			7	1084_1085	+	Lung NSC(6;2.58e-06)		288					Q16796|Q2TB60|Q8N3V4	Frame_Shift_Ins	INS	ENST00000264663.5	37	c.863_864insT	CCDS3949.1																																																																																				0.455	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		37	58						37	58	---	---	---	---
LAMB1	3912	broad.mit.edu	37	7	107603497	107603498	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr7:107603497_107603498insA	ENST00000222399.6	-	15	1939_1940	c.1709_1710insT	c.(1708-1710)atafs	p.I570fs	LAMB1_ENST00000393561.1_Frame_Shift_Ins_p.I594fs|LAMB1_ENST00000393560.1_Frame_Shift_Ins_p.I570fs	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	570	Laminin IV type B. {ECO:0000255|PROSITE- ProRule:PRU00462}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						GCCGCTCCACTATGCTAACCCC	0.45																																						ENST00000393561.1																			0				NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.(1780-1782)agtfs		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)																																			SO:0001589	frameshift_variant	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107603497_107603498insA	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.1710dupT	7.37:g.107603498_107603498dupA	ENSP00000222399:p.Ile570fs					LAMB1_ENST00000222399.6_Frame_Shift_Ins_p.S570fs|LAMB1_ENST00000393560.1_Frame_Shift_Ins_p.S570fs	p.S594fs			P07942	LAMB1_HUMAN			13	1965_1966	-			570			Laminin IV type B.		Q14D91	Frame_Shift_Ins	INS	ENST00000222399.6	37	c.1781_1782insT	CCDS5750.1																																																																																				0.450	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		30	75						30	75	---	---	---	---
SNX29P2	440352	broad.mit.edu	37	16	29372348	29372348	+	RNA	DEL	T	T	-	rs368280985		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr16:29372348delT	ENST00000507381.1	+	0	497				SNX29P2_ENST00000398878.3_lincRNA			Q8IUI4	S29P2_HUMAN	sorting nexin 29 pseudogene 2																		TGGGAGGttgttttttttttt	0.478																																						ENST00000398878.3																			0																																																			440352							g.chr16:29372348delT	BX648280		16p11.2	2014-03-21	2011-08-16	2011-08-16	ENSG00000198106	ENSG00000198106			31914	pseudogene	pseudogene			"""RUN domain containing 2C"""	RUNDC2C			Standard	NR_002939		Approved		uc021tfw.1	Q8IUI4			16.37:g.29372348delT						SNX29P2_ENST00000507381.1_RNA								0	1186	+									RNA	DEL	ENST00000507381.1	37																																																																																						0.478	SNX29P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361855.1	NR_002939		5	3						5	3	---	---	---	---
TBX6	6911	broad.mit.edu	37	16	30097569	30097580	+	In_Frame_Del	DEL	CATCCAGATAGC	CATCCAGATAGC	-	rs577918214		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr16:30097569_30097580delCATCCAGATAGC	ENST00000395224.2	-	9	1336_1347	c.1277_1288delGCTATCTGGATG	c.(1276-1290)ggctatctggatgtg>gtg	p.GYLD426del	TBX6_ENST00000279386.2_In_Frame_Del_p.GYLD426del	NM_004608.3	NP_004599.2	O95947	TBX6_HUMAN	T-box 6	426					anatomical structure morphogenesis (GO:0009653)|cell fate specification (GO:0001708)|mesoderm development (GO:0007498)|mesoderm formation (GO:0001707)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						TTGGAGCCCACATCCAGATAGCCCCCAGGCGC	0.665																																						ENST00000395224.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						c.(1276-1290)gtg>g		T-box 6																																				SO:0001651	inframe_deletion	6911				anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:30097569_30097580delCATCCAGATAGC	AJ007989	CCDS10670.1	16p11.2	2008-02-05			ENSG00000149922	ENSG00000149922		"""T-boxes"""	11605	protein-coding gene	gene with protein product		602427				9888994, 9933572	Standard	NM_004608		Approved		uc010veh.2	O95947	OTTHUMG00000132115	ENST00000395224.2:c.1277_1288delGCTATCTGGATG	16.37:g.30097569_30097580delCATCCAGATAGC	ENSP00000378650:p.Gly426_Asp429del					TBX6_ENST00000279386.2_In_Frame_Del_p.GYLDV426del	p.GYLDV426del	NM_004608.3	NP_004599.2	O95947	TBX6_HUMAN			9	1336_1347	-			426					Q8TAS4|Q9HA44	In_Frame_Del	DEL	ENST00000395224.2	37	c.1277_1288delGCTATCTGGATG	CCDS10670.1																																																																																				0.665	TBX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255157.2	NM_004608, NM_080758		7	89						7	89	---	---	---	---
LOC101928880	101928880	broad.mit.edu	37	16	88226611	88226611	+	lincRNA	DEL	G	G	-			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr16:88226611delG	ENST00000569362.1	+	0	0				RP11-863P13.2_ENST00000568587.1_lincRNA																							tggtggtgatggtggtgatgg	0.522																																						ENST00000568587.1																			0																																																			0							g.chr16:88226611delG																													16.37:g.88226611delG														0	91	-									RNA	DEL	ENST00000569362.1	37																																																																																						0.522	LA16c-444G7.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000430450.1			4	9						4	9	---	---	---	---
DNM2	1785	broad.mit.edu	37	19	10930720	10930724	+	Frame_Shift_Del	DEL	TCATG	TCATG	-			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr19:10930720_10930724delTCATG	ENST00000355667.6	+	16	1816_1820	c.1736_1740delTCATG	c.(1735-1740)ttcatgfs	p.FM579fs	DNM2_ENST00000359692.6_Frame_Shift_Del_p.FM575fs|DNM2_ENST00000408974.4_Frame_Shift_Del_p.FM575fs|DNM2_ENST00000314646.5_Frame_Shift_Del_p.FM579fs|DNM2_ENST00000389253.4_Frame_Shift_Del_p.FM579fs|MIR199A1_ENST00000385019.1_RNA|DNM2_ENST00000585892.1_Frame_Shift_Del_p.FM579fs	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	579	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GAGAAGGGCTTCATGTCCAACAAGC	0.571			"""F, N, Splice, Mis, O"""		ETP ALL																																	ENST00000314646.5				Rec	yes		19	19p13.2	1785	"""F, N, Splice, Mis, O"""	dynamin 2			L			ETP ALL		0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42						c.(1735-1740)tfs		dynamin 2																																				SO:0001589	frameshift_variant	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10930720_10930724delTCATG		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.1736_1740delTCATG	19.37:g.10930720_10930724delTCATG	ENSP00000347890:p.Phe579fs					DNM2_ENST00000359692.6_Frame_Shift_Del_p.FM575fs|DNM2_ENST00000355667.6_Frame_Shift_Del_p.FM579fs|DNM2_ENST00000585892.1_Frame_Shift_Del_p.FM579fs|DNM2_ENST00000408974.4_Frame_Shift_Del_p.FM575fs|DNM2_ENST00000389253.4_Frame_Shift_Del_p.FM579fs	p.FM579fs			P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		16	1900_1904	+			579			PH.		A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Frame_Shift_Del	DEL	ENST00000355667.6	37	c.1736_1740delTCATG	CCDS45968.1																																																																																				0.571	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		19	110						19	110	---	---	---	---
SPIN3	169981	broad.mit.edu	37	X	57020862	57020863	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chrX:57020862_57020863insT	ENST00000374919.3	-	2	840_841	c.518_519insA	c.(517-519)tatfs	p.Y173fs		NM_001010862.2	NP_001010862.2	Q5JUX0	SPIN3_HUMAN	spindlin family, member 3	173					gamete generation (GO:0007276)					central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						GCTGGTACATATATAATACAGG	0.436																																						ENST00000374919.3																			0				central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(517-519)tatfs		spindlin family, member 3																																				SO:0001589	frameshift_variant	169981				gamete generation			g.chrX:57020862_57020863insT	AL832091	CCDS43963.1	Xp11.22	2008-02-05			ENSG00000204271	ENSG00000204271			27272	protein-coding gene	gene with protein product							Standard	NM_001010862		Approved		uc004dux.1	Q5JUX0	OTTHUMG00000021677	ENST00000374919.3:c.519dupA	X.37:g.57020863_57020863dupT	ENSP00000364054:p.Tyr173fs						p.Y173fs	NM_001010862.2	NP_001010862.2	Q5JUX0	SPIN3_HUMAN			2	840_841	-			173					B2RUW3|B7Z8W2|Q8N5D9	Frame_Shift_Ins	INS	ENST00000374919.3	37	c.518_519insA	CCDS43963.1																																																																																				0.436	SPIN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056908.1	XM_093024		20	35						20	35	---	---	---	---
