#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
KDF1	126695	broad.mit.edu	37	1	27278819	27278819	+	Missense_Mutation	SNP	G	G	A	rs145806681	byFrequency	TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr1:27278819G>A	ENST00000320567.5	-	2	141	c.53C>T	c.(52-54)cCg>cTg	p.P18L		NM_152365.2	NP_689578.2	Q8NAX2	KDF1_HUMAN		18	Pro-rich.				developmental growth (GO:0048589)|establishment of skin barrier (GO:0061436)|keratinocyte development (GO:0003334)|limb epidermis development (GO:0060887)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|positive regulation of epidermal cell differentiation (GO:0045606)|regulation of epidermal cell division (GO:0010482)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		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;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		CCGCTCCCACGGTCCCAAGCG	0.652																																						uc001bni.2																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.(52-54)cCg>cTg		Homo sapiens chromosome 1 open reading frame 172 (C1orf172), mRNA.		G	LEU/PRO	7,4241		0,7,2117	35.0	39.0	38.0		53	4.1	1.0	1	dbSNP_134	38	0,8354		0,0,4177	yes	missense	C1orf172	NM_152365.2	98	0,7,6294	AA,AG,GG		0.0,0.1648,0.0555	probably-damaging	18/399	27278819	7,12595	2124	4177	6301	SO:0001583	missense	126695							g.chr1:27278819G>A																												ENST00000320567.5:c.53C>T	1.37:g.27278819G>A	ENSP00000319179:p.Pro18Leu					BC016143_uc021ojq.1_Intron	p.P18L	NM_152365	NP_689578	Q8NAX2	CA172_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)	1	146	-		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)	18			Pro-rich.		Q5QP32|Q8N0S7	Missense_Mutation	SNP	ENST00000320567.5	37	c.53C>T	CCDS293.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.521668	0.64747	0.001648	0.0	ENSG00000175707	ENST00000320567;ENST00000374109	T	0.31769	1.48	5.0	4.06	0.47325	.	0.151515	0.45361	D	0.000377	T	0.34337	0.0894	N	0.24115	0.695	0.53688	D	0.999972	D	0.64830	0.994	P	0.56278	0.795	T	0.20739	-1.0266	10	0.87932	D	0	.	12.954	0.58416	0.0:0.1641:0.8359:0.0	.	18	Q8NAX2	CA172_HUMAN	L	18	ENSP00000319179:P18L	ENSP00000319179:P18L	P	-	2	0	C1orf172	27151406	1.000000	0.71417	1.000000	0.80357	0.560000	0.35617	2.445000	0.44899	1.289000	0.44618	0.650000	0.86243	CCG		0.652	C1orf172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012340.1		
AHDC1	27245	broad.mit.edu	37	1	27876436	27876436	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr1:27876436C>A	ENST00000247087.5	-	5	2787	c.2191G>T	c.(2191-2193)Gta>Tta	p.V731L	AHDC1_ENST00000374011.2_Missense_Mutation_p.V731L			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	731	Gly-rich.						DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		ACAGCGTCTACCTCCCCCCGG	0.662																																						uc021ojw.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(2191-2193)Gta>Tta		Homo sapiens AT hook, DNA binding motif, containing 1 (AHDC1), mRNA.							37.0	35.0	35.0					1																	27876436		2203	4300	6503	SO:0001583	missense	27245						DNA binding	g.chr1:27876436C>A	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.2191G>T	1.37:g.27876436C>A	ENSP00000247087:p.Val731Leu					AHDC1_uc009vsy.3_Missense_Mutation_p.V731L|AHDC1_uc009vsz.1_Missense_Mutation_p.V731L	p.V731L	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	0	2191	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	731			Gly-rich.		Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	37	c.2191G>T	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.073666	0.36566	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.47869	0.83;0.83	5.78	3.76	0.43208	.	0.409627	0.19591	N	0.110606	T	0.30166	0.0756	N	0.14661	0.345	0.24503	N	0.994242	B	0.18741	0.03	B	0.21917	0.037	T	0.20874	-1.0262	10	0.49607	T	0.09	-5.9808	9.2772	0.37707	0.1352:0.542:0.3228:0.0	.	731	Q5TGY3	AHDC1_HUMAN	L	731	ENSP00000247087:V731L;ENSP00000363123:V731L	ENSP00000247087:V731L	V	-	1	0	AHDC1	27749023	1.000000	0.71417	0.997000	0.53966	0.941000	0.58515	2.159000	0.42339	1.395000	0.46643	0.650000	0.86243	GTA		0.662	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3		
LAMC2	3918	broad.mit.edu	37	1	183177131	183177131	+	Silent	SNP	C	C	T			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr1:183177131C>T	ENST00000264144.4	+	2	260	c.195C>T	c.(193-195)tgC>tgT	p.C65C	LAMC2_ENST00000493293.1_Silent_p.C65C	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	65	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						GCATTCACTGCGAGAAGTGCA	0.493																																						uc001gqa.2																			0				breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(193-195)tgC>tgT		Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA.							283.0	272.0	276.0					1																	183177131		2203	4300	6503	SO:0001819	synonymous_variant	3918				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	g.chr1:183177131C>T	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.195C>T	1.37:g.183177131C>T						LAMC2_uc001gpz.4_Silent_p.C65C|LAMC2_uc010poa.2_5'UTR	p.C65C	NM_005562	NP_005553	Q13753	LAMC2_HUMAN			1	509	+			65			Laminin EGF-like 1.		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Silent	SNP	ENST00000264144.4	37	c.195C>T	CCDS1352.1																																																																																				0.493	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562	
NEK2	4751	broad.mit.edu	37	1	211836944	211836944	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr1:211836944C>T	ENST00000366999.4	-	8	1300	c.1162G>A	c.(1162-1164)Ggg>Agg	p.G388R	NEK2_ENST00000540251.1_Missense_Mutation_p.G345R|NEK2_ENST00000462283.1_5'UTR	NM_002497.3	NP_002488.1	P51955	NEK2_HUMAN	NIMA-related kinase 2	388	Interaction with PCNT.|Necessary for interaction with MAD1L1.				blastocyst development (GO:0001824)|centrosome separation (GO:0051299)|chromosome segregation (GO:0007059)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of centriole-centriole cohesion (GO:1903126)|negative regulation of DNA binding (GO:0043392)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of mitosis (GO:0007088)|regulation of mitotic centrosome separation (GO:0046602)|spindle assembly (GO:0051225)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|microtubule (GO:0005874)|midbody (GO:0030496)|nucleus (GO:0005634)|protein complex (GO:0043234)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		TTACTTTCCCCACTGAAATGA	0.403																																						uc001hir.2																			0				breast(2)|stomach(1)	3						c.(1162-1164)Ggg>Agg		Homo sapiens NIMA (never in mitosis gene a)-related kinase 2 (NEK2), transcript variant 1, mRNA.							39.0	40.0	40.0					1																	211836944		2203	4298	6501	SO:0001583	missense	4751				cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity	g.chr1:211836944C>T	U11050	CCDS1500.1, CCDS55682.1, CCDS73024.1	1q32.3	2014-06-12	2012-11-15		ENSG00000117650	ENSG00000117650			7745	protein-coding gene	gene with protein product	"""HsPK 21"", ""protein phosphatase 1, regulatory subunit 111"""	604043	"""NIMA (never in mitosis gene a)-related kinase 2"""			8274451, 24043777	Standard	NM_002497		Approved	NLK1, NEK2A, RP67, PPP1R111	uc001hir.2	P51955	OTTHUMG00000037121	ENST00000366999.4:c.1162G>A	1.37:g.211836944C>T	ENSP00000355966:p.Gly388Arg					NEK2_uc021piq.1_Intron|NEK2_uc021pir.1_Missense_Mutation_p.G130R	p.G388R	NM_002497	NP_002488	P51955	NEK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)	7	1313	-			388			Interaction with PCNT.|Necessary for interaction with MAD1L1.		Q53FD6|Q5I1Z9|Q5VXZ1|Q6NZX8|Q7Z634|Q86XH2|Q96QN9	Missense_Mutation	SNP	ENST00000366999.4	37	c.1162G>A	CCDS1500.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.676852	0.47886	.	.	ENSG00000117650	ENST00000366999;ENST00000540251	T;T	0.35236	1.32;1.32	5.36	4.45	0.53987	.	0.155090	0.56097	N	0.000021	T	0.30947	0.0781	L	0.56769	1.78	0.49130	D	0.99975	B;B	0.09022	0.002;0.001	B;B	0.09377	0.002;0.004	T	0.09185	-1.0686	10	0.15952	T	0.53	.	9.4775	0.38880	0.0:0.8357:0.0:0.1642	.	388;380	P51955;P51955-4	NEK2_HUMAN;.	R	388;345	ENSP00000355966:G388R;ENSP00000440237:G345R	ENSP00000355966:G388R	G	-	1	0	NEK2	209903567	0.333000	0.24731	0.991000	0.47740	0.960000	0.62799	1.655000	0.37345	1.392000	0.46585	0.650000	0.86243	GGG		0.403	NEK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090154.1	NM_002497	
OR2W5	441932	broad.mit.edu	37	1	247655038	247655038	+	RNA	SNP	G	G	A	rs560353155		TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr1:247655038G>A	ENST00000522351.1	+	0	669							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-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)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TTTGCCCTGGGGGTGGCTCTC	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		18506	0.0		0.0	False		,,,				2504	0.001					uc001icz.2																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39						c.(607-609)ggG>ggA		Homo sapiens olfactory receptor, family 2, subfamily W, member 5 (OR2W5), mRNA.							122.0	126.0	125.0					1																	247655038		2203	4300	6503			441932				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247655038G>A			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"""GPCR / Class A : Olfactory receptors"""	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247655038G>A							p.G203G	NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		0	669	+	all_cancers(71;4.51e-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)	all_cancers(173;0.222)	203					B9EH85	Silent	SNP	ENST00000522351.1	37	c.609G>A																																																																																					0.572	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698	
OR2L2	26246	broad.mit.edu	37	1	248202130	248202130	+	Silent	SNP	C	C	G			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr1:248202130C>G	ENST00000366479.2	+	1	657	c.561C>G	c.(559-561)gcC>gcG	p.A187A	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	187						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TGACGCTAGCCTGCACAGACA	0.458																																						uc001idw.3																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42						c.(559-561)gcC>gcG		Homo sapiens olfactory receptor, family 2, subfamily L, member 2 (OR2L2), mRNA.							277.0	242.0	254.0					1																	248202130		2203	4300	6503	SO:0001819	synonymous_variant	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248202130C>G	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.561C>G	1.37:g.248202130C>G						OR2L13_uc001ids.3_Intron	p.A187A	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		0	657	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		187					Q2M3T5	Silent	SNP	ENST00000366479.2	37	c.561C>G	CCDS31103.1																																																																																				0.458	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686	
CDH23	64072	broad.mit.edu	37	10	73544851	73544851	+	Silent	SNP	T	T	C			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr10:73544851T>C	ENST00000224721.6	+	42	5726	c.5721T>C	c.(5719-5721)aaT>aaC	p.N1907N		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1902	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TCTTCATCAATGCCACGGTAG	0.597																																						uc001jrx.4																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(5695-5697)aaT>aaC		Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.							51.0	52.0	52.0					10																	73544851		2032	4177	6209	SO:0001819	synonymous_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73544851T>C	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.5721T>C	10.37:g.73544851T>C							p.N1899N	NM_022124	NP_071407	Q9H251	CAD23_HUMAN			40	6087	+			1902			Cadherin 18.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37	c.5697T>C																																																																																					0.597	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836	
RGR	5995	broad.mit.edu	37	10	86017694	86017694	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr10:86017694C>T	ENST00000359452.4	+	6	726	c.688C>T	c.(688-690)Ccc>Tcc	p.P230S	RGR_ENST00000479725.1_3'UTR|RGR_ENST00000358110.5_Intron	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	226					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						CGGCTGGGGCCCCTATGCCAT	0.542																																					NSCLC(15;204 545 5889 6385 32445)	uc001kdd.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						c.(688-690)Ccc>Tcc		Homo sapiens retinal G protein coupled receptor (RGR), transcript variant 1, mRNA.							88.0	79.0	82.0					10																	86017694		2203	4300	6503	SO:0001583	missense	5995				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding	g.chr10:86017694C>T	BC011349	CCDS7374.1, CCDS41543.1	10q23	2013-02-14			ENSG00000148604	ENSG00000148604		"""GPCR / Class A : Opsin receptors"""	9990	protein-coding gene	gene with protein product	"""RGR-opsin"""	600342				8641686	Standard	NM_002921		Approved	RP44	uc001kdd.1	P47804	OTTHUMG00000018636	ENST00000359452.4:c.688C>T	10.37:g.86017694C>T	ENSP00000352427:p.Pro230Ser					RGR_uc001kdc.1_Missense_Mutation_p.P226S|RGR_uc001kde.1_Intron	p.P230S	NM_002921	NP_002912	P47804	RGR_HUMAN			5	726	+			226					A6NKK7|Q96FC5	Missense_Mutation	SNP	ENST00000359452.4	37	c.688C>T	CCDS7374.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.739445	0.89573	.	.	ENSG00000148604	ENST00000359452	T	0.80304	-1.36	4.65	4.65	0.58169	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.91723	0.7383	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.93582	0.6913	10	0.87932	D	0	.	17.172	0.86832	0.0:1.0:0.0:0.0	.	230;226	P47804-2;P47804	.;RGR_HUMAN	S	230	ENSP00000352427:P230S	ENSP00000352427:P230S	P	+	1	0	RGR	86007674	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	6.960000	0.76036	2.505000	0.84491	0.655000	0.94253	CCC		0.542	RGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049116.1	NM_002921	
ABCC9	10060	broad.mit.edu	37	12	21968799	21968799	+	Silent	SNP	T	T	G			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr12:21968799T>G	ENST00000261201.4	-	32	3920	c.3921A>C	c.(3919-3921)ccA>ccC	p.P1307P	ABCC9_ENST00000345162.2_Silent_p.P1271P|ABCC9_ENST00000261200.4_Silent_p.P1307P	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1307					defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CCCCTTCTTGTGGCCAATGTT	0.393																																						uc001rfh.3																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(3919-3921)ccA>ccC		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						138.0	123.0	128.0					12																	21968799		2203	4300	6503	SO:0001819	synonymous_variant	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21968799T>G	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3921A>C	12.37:g.21968799T>G						ABCC9_uc001rfi.1_Silent_p.P1307P	p.P1307P	NM_020297	NP_064693	O60706	ABCC9_HUMAN			31	3941	-			1307					O60707	Silent	SNP	ENST00000261201.4	37	c.3921A>C	CCDS8694.1																																																																																				0.393	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691	
CYP1A2	1544	broad.mit.edu	37	15	75042134	75042134	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr15:75042134G>A	ENST00000343932.4	+	2	118	c.55G>A	c.(55-57)Gcc>Acc	p.A19T		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	19					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""""""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"""	CCTGGCCTCTGCCATCTTCTG	0.587																																						uc002ayr.1																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33						c.(55-57)Gcc>Acc		Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)						201.0	192.0	195.0					15																	75042134		2197	4296	6493	SO:0001583	missense	1544				alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding	g.chr15:75042134G>A	AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"""Cytochrome P450s"""	2596	protein-coding gene	gene with protein product		124060	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"""			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.55G>A	15.37:g.75042134G>A	ENSP00000342007:p.Ala19Thr						p.A19T	NM_000761	NP_000752	P05177	CP1A2_HUMAN			1	119	+			19					Q16754|Q6NWU5|Q9BXX7|Q9UK49	Missense_Mutation	SNP	ENST00000343932.4	37	c.55G>A	CCDS32293.1	.	.	.	.	.	.	.	.	.	.	G	4.243	0.043987	0.08196	.	.	ENSG00000140505	ENST00000343932	T	0.71341	-0.56	5.11	-2.49	0.06403	.	0.449294	0.27686	N	0.018267	T	0.40473	0.1118	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.14578	0.011	T	0.19614	-1.0300	10	0.20519	T	0.43	.	5.9399	0.19187	0.473:0.0:0.4056:0.1214	.	19	P05177-2	.	T	19	ENSP00000342007:A19T	ENSP00000342007:A19T	A	+	1	0	CYP1A2	72829187	0.000000	0.05858	0.000000	0.03702	0.501000	0.33797	0.077000	0.14738	-0.723000	0.04915	-0.137000	0.14449	GCC		0.587	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761	
DNAH3	55567	broad.mit.edu	37	16	21080790	21080790	+	Silent	SNP	C	C	T			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr16:21080790C>T	ENST00000261383.3	-	23	3326	c.3327G>A	c.(3325-3327)gaG>gaA	p.E1109E	DNAH3_ENST00000415178.1_Silent_p.E1109E	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1109	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATTTCCTCCCCTCTTCTGGCA	0.428																																						uc010vbe.2																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(3325-3327)gaG>gaA		Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.							178.0	156.0	163.0					16																	21080790		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21080790C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.3327G>A	16.37:g.21080790C>T							p.E1109E	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	22	3327	-			1109			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.3327G>A	CCDS10594.1																																																																																				0.428	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539	
HYDIN	54768	broad.mit.edu	37	16	70977832	70977832	+	Silent	SNP	G	G	A	rs368359335		TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr16:70977832G>A	ENST00000393567.2	-	42	6702	c.6552C>T	c.(6550-6552)ccC>ccT	p.P2184P		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2184					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGGGCCCCGGGGGGAGAGGGC	0.582																																						uc002ezr.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(6547-6549)ccC>ccT		Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.		C		0,3918		0,0,1959	29.0	31.0	30.0		6549	-6.6	0.0	16		30	1,8311		0,1,4155	no	coding-synonymous	HYDIN	NM_032821.2		0,1,6114	AA,AG,GG		0.012,0.0,0.0082		2183/5121	70977832	1,12229	1959	4156	6115	SO:0001819	synonymous_variant	54768							g.chr16:70977832G>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.6552C>T	16.37:g.70977832G>A							p.P2183P	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			41	6700	-		Ovarian(137;0.0654)	2184					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	c.6549C>T	CCDS59269.1																																																																																				0.582	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
GAS8	2622	broad.mit.edu	37	16	90095609	90095609	+	Intron	SNP	C	C	T	rs76322535		TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr16:90095609C>T	ENST00000268699.4	+	2	212				GAS8_ENST00000536122.1_Intron|GAS8_ENST00000540721.1_Intron|C16orf3_ENST00000408886.2_Missense_Mutation_p.V48I	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8						cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		gggcagcctacggggcaggct	0.672																																						uc002fqk.1																			0				large_intestine(1)|lung(2)|prostate(1)	4						c.(142-144)Gta>Ata		Homo sapiens chromosome 16 open reading frame 3 (C16orf3), mRNA.							22.0	25.0	24.0					16																	90095609		2197	4299	6496	SO:0001627	intron_variant	750							g.chr16:90095609C>T	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"""growth arrest-specific 11"""	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.90+1479C>T	16.37:g.90095609C>T						GAS8_uc010vps.1_Intron|GAS8_uc002fqh.2_Intron|GAS8_uc010vpt.1_Intron|GAS8_uc010vpu.1_Intron|GAS8_uc010vpv.1_Intron|GAS8_uc010cjc.1_Intron|GAS8_uc002fqi.1_Intron|GAS8_uc010vpw.1_Intron|GAS8_uc002fqj.1_Intron	p.V48I	NM_001214	NP_001205	O95177	CP003_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0272)	0	701	-		all_cancers(9;9.01e-08)|Hepatocellular(780;0.000325)|Lung NSC(15;0.0104)|all_lung(18;0.0239)	48		Missing (in short isoform).			B2RCT1|B7Z4U1|G3V1L5|Q2M234	Missense_Mutation	SNP	ENST00000268699.4	37	c.142G>A	CCDS10992.1	17	0.007783882783882784	16	0.032520325203252036	1	0.0027624309392265192	0	0.0	0	0.0	N	0.178	-1.064676	0.01934	.	.	ENSG00000221819	ENST00000408886	T	0.55052	0.54	0.668	-1.34	0.09143	.	.	.	.	.	T	0.08268	0.0206	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.05500	-1.0881	7	.	.	.	.	.	.	.	.	56	O95177	CP003_HUMAN	I	48	ENSP00000386218:V48I	.	V	-	1	0	C16orf3	88623110	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-2.485000	0.00979	-3.256000	0.00203	-2.337000	0.00247	GTA		0.672	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2		
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C	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	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)	AGGCGGCTCATAGGGCACCAC	0.557		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)	uc002gim.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"""		343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	p.Y220C(516)|p.Y127C(24)|p.Y220S(22)|p.Y220N(12)|p.Y220H(11)|p.?(11)|p.0?(8)|p.P219S(4)|p.P219P(4)|p.Y220fs*27(4)|p.Y220*(3)|p.Y220D(3)|p.P219L(3)|p.Y220_P223delYEPP(2)|p.V218_Y220delVPY(2)|p.V216_Y220delVVVPY(2)|p.P219T(2)|p.Y220fs*25(2)|p.V218_E221delVPYE(2)|p.Y220fs*2(2)|p.V218_E224delVPYEPPE(2)|p.K164_P219del(1)|p.Y220L(1)|p.Y220fs*1(1)|p.Y127S(1)|p.V218_P219insX(1)|p.D208fs*1(1)|p.P219R(1)|p.P219C(1)|p.P219H(1)|p.V218fs*26(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(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	GRCh37	CM015378|CM951227	TP53	M	rs121912666	c.(658-660)tAt>tGt	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							102.0	94.0	97.0					17																	7578190		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.chr17:7578190T>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.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys	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_uc002gig.1_Missense_Mutation_p.Y220C|TP53_uc002gih.3_Missense_Mutation_p.Y220C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Y88C|TP53_uc010cnf.1_Missense_Mutation_p.Y88C|TP53_uc002gii.1_Missense_Mutation_p.Y88C|TP53_uc010cni.1_Missense_Mutation_p.Y220C|TP53_uc010cnh.1_Missense_Mutation_p.Y220C|TP53_uc002gij.2_Missense_Mutation_p.Y220C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y127C|TP53_uc002gio.2_Missense_Mutation_p.Y88C|TP53_uc010vug.2_Missense_Mutation_p.Y181C|DL476358_uc021tph.1_5'Flank	p.Y220C	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	853	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	220		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; 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.659A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
MFSD6L	162387	broad.mit.edu	37	17	8700984	8700984	+	Silent	SNP	G	G	A			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr17:8700984G>A	ENST00000329805.4	-	1	1683	c.1455C>T	c.(1453-1455)ccC>ccT	p.P485P		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	485						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						TCTCCATGCGGGGAGTGGCCA	0.607																																						uc002glp.2																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						c.(1453-1455)ccC>ccT		Homo sapiens major facilitator superfamily domain containing 6-like (MFSD6L), mRNA.							40.0	41.0	41.0					17																	8700984		2203	4300	6503	SO:0001819	synonymous_variant	162387					integral to membrane		g.chr17:8700984G>A	AK093092	CCDS11146.1	17p13.1	2014-05-30			ENSG00000185156	ENSG00000185156			26656	protein-coding gene	gene with protein product							Standard	NM_152599		Approved	FLJ35773	uc002glp.2	Q8IWD5	OTTHUMG00000178584	ENST00000329805.4:c.1455C>T	17.37:g.8700984G>A							p.P485P	NM_152599	NP_689812	Q8IWD5	MFS6L_HUMAN			0	1684	-			485					Q6YL34|Q8NA76	Silent	SNP	ENST00000329805.4	37	c.1455C>T	CCDS11146.1																																																																																				0.607	MFSD6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442554.1	NM_152599	
KRTAP4-11	653240	broad.mit.edu	37	17	39274415	39274415	+	Silent	SNP	C	C	T	rs425487		TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr17:39274415C>T	ENST00000391413.2	-	1	191	c.153G>A	c.(151-153)agG>agA	p.R51R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	51	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.R51R(6)		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)			AGCACTGGGGCCTGCAGCAGC	0.667																																						uc002hvz.3																			6	Substitution - coding silent(6)	p.R51R(12)|p.R51K(1)	endometrium(3)|kidney(2)|lung(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(151-153)agG>agA		Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.							9.0	15.0	13.0					17																	39274415		682	1579	2261	SO:0001819	synonymous_variant	653240					keratin filament		g.chr17:39274415C>T	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.153G>A	17.37:g.39274415C>T							p.R51R	NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		0	192	-		Breast(137;0.000496)	51		Missing (in allele KAP4.14).	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Silent	SNP	ENST00000391413.2	37	c.153G>A	CCDS45675.1																																																																																				0.667	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1		
PAK4	10298	broad.mit.edu	37	19	39663979	39663979	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr19:39663979C>T	ENST00000593690.1	+	5	1053	c.626C>T	c.(625-627)cCg>cTg	p.P209L	PAK4_ENST00000358301.3_Missense_Mutation_p.P209L|PAK4_ENST00000599470.1_Intron|PAK4_ENST00000435673.2_Missense_Mutation_p.P209L|PAK4_ENST00000360442.3_Missense_Mutation_p.P209L|PAK4_ENST00000599386.1_Intron|PAK4_ENST00000321944.4_Intron	NM_001014831.2	NP_001014831.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	209	Linker.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			AACACCTACCCGAGGGCTGAC	0.701																																						uc002okj.1																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13						c.(625-627)cCg>cTg		Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 4 (PAK4), transcript variant 2, mRNA.							9.0	11.0	10.0					19																	39663979		2154	4202	6356	SO:0001583	missense	10298				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr19:39663979C>T	AJ011855	CCDS12528.1, CCDS33019.1	19p11-q11	2008-06-17	2008-06-17						16059	protein-coding gene	gene with protein product		605451	"""p21(CDKN1A)-activated kinase 4"""			9822598, 10461188	Standard	NM_001014831		Approved		uc002okn.1	O96013		ENST00000593690.1:c.626C>T	19.37:g.39663979C>T	ENSP00000469413:p.Pro209Leu					PAK4_uc002okl.1_Missense_Mutation_p.P209L|PAK4_uc002okn.1_Missense_Mutation_p.P209L|PAK4_uc002okm.1_Intron|PAK4_uc002oko.1_Intron|PAK4_uc002okp.1_Intron	p.P209L	NM_001014831	NP_005875	O96013	PAK4_HUMAN	Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)		4	1087	+	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		209			Linker.		B4DGG6|Q8N4E1|Q8NCH5|Q8NDE3|Q9BU33|Q9ULS8	Missense_Mutation	SNP	ENST00000593690.1	37	c.626C>T	CCDS12528.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.494740	0.64186	.	.	ENSG00000130669	ENST00000358301;ENST00000358801;ENST00000435673;ENST00000360442	T;T;T	0.73047	-0.71;-0.71;-0.71	4.23	3.17	0.36434	.	0.000000	0.85682	D	0.000000	T	0.70631	0.3246	L	0.61218	1.895	0.58432	D	0.999999	D	0.69078	0.997	P	0.48334	0.574	T	0.72054	-0.4406	10	0.49607	T	0.09	.	11.6066	0.51035	0.0:0.818:0.182:0.0	.	209	O96013	PAK4_HUMAN	L	209;13;209;209	ENSP00000351049:P209L;ENSP00000392753:P209L;ENSP00000353625:P209L	ENSP00000351049:P209L	P	+	2	0	PAK4	44355819	1.000000	0.71417	0.959000	0.39883	0.976000	0.68499	5.601000	0.67606	0.965000	0.38133	0.561000	0.74099	CCG		0.701	PAK4-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463823.1		
IFT172	26160	broad.mit.edu	37	2	27669199	27669200	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr2:27669199_27669200delAG	ENST00000260570.3	-	43	4785_4786	c.4682_4683delCT	c.(4681-4683)tctfs	p.S1561fs	KRTCAP3_ENST00000543753.1_3'UTR	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1561					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					AGAGTGAAACAGAAAGCCTGGC	0.505																																						uc002rku.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43						c.(4681-4683)tctfs		Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.																																				SO:0001589	frameshift_variant	26160				cilium assembly	cilium	binding	g.chr2:27669199_27669200delAG	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.4682_4683delCT	2.37:g.27669199_27669200delAG	ENSP00000260570:p.Ser1561fs					KRTCAP3_uc021vfd.1_3'UTR|IFT172_uc010ezb.3_Non-coding_Transcript	p.S1561fs	NM_015662	NP_056477	Q9UG01	IF172_HUMAN			42	4733_4734	-	Acute lymphoblastic leukemia(172;0.155)		1561					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Frame_Shift_Del	DEL	ENST00000260570.3	37	c.4682_4683delCT	CCDS1755.1																																																																																				0.505	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662	
FABP1	2168	broad.mit.edu	37	2	88425819	88425819	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr2:88425819G>A	ENST00000295834.3	-	2	214	c.116C>T	c.(115-117)tCg>tTg	p.S39L	FABP1_ENST00000393750.3_Missense_Mutation_p.S39L|FABP1_ENST00000495375.1_5'UTR	NM_001443.2	NP_001434.1	P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	39					cellular lipid metabolic process (GO:0044255)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|intestinal absorption (GO:0050892)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of hydrolase activity (GO:0051345)|small molecule metabolic process (GO:0044281)	apical cortex (GO:0045179)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|peroxisomal matrix (GO:0005782)	antioxidant activity (GO:0016209)|bile acid binding (GO:0032052)|chromatin binding (GO:0003682)|drug binding (GO:0008144)|fatty acid binding (GO:0005504)|long-chain fatty acid transporter activity (GO:0005324)|phospholipid binding (GO:0005543)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						CACGATTTCCGACACCCCCTT	0.527																																						uc002sst.2																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						c.(115-117)tCg>tTg		Homo sapiens fatty acid binding protein 1, liver (FABP1), mRNA.							302.0	251.0	269.0					2																	88425819		2203	4300	6503	SO:0001583	missense	2168				organ morphogenesis			g.chr2:88425819G>A	M10617	CCDS2001.1	2p11	2013-03-01			ENSG00000163586	ENSG00000163586		"""Fatty acid binding protein family"""	3555	protein-coding gene	gene with protein product		134650				3012800, 17698986	Standard	NM_001443		Approved	L-FABP	uc002sst.2	P07148	OTTHUMG00000130312	ENST00000295834.3:c.116C>T	2.37:g.88425819G>A	ENSP00000295834:p.Ser39Leu						p.S39L	NM_001443	NP_001434	P07148	FABPL_HUMAN			1	230	-			39						Missense_Mutation	SNP	ENST00000295834.3	37	c.116C>T	CCDS2001.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910498	0.52439	.	.	ENSG00000163586	ENST00000295834;ENST00000393750	T;T	0.15603	2.41;2.41	5.81	4.93	0.64822	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.546602	0.21806	N	0.068846	T	0.16769	0.0403	L	0.36672	1.1	0.21950	N	0.999452	B;B	0.28998	0.23;0.107	B;B	0.31191	0.125;0.054	T	0.16305	-1.0407	10	0.72032	D	0.01	.	13.6077	0.62056	0.0753:0.0:0.9247:0.0	.	39;39	A8MW49;P07148	.;FABPL_HUMAN	L	39	ENSP00000295834:S39L;ENSP00000377351:S39L	ENSP00000295834:S39L	S	-	2	0	FABP1	88206934	0.998000	0.40836	0.012000	0.15200	0.776000	0.43924	7.159000	0.77483	1.469000	0.48083	0.558000	0.71614	TCG		0.527	FABP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252660.1	NM_001443	
NCAPH	23397	broad.mit.edu	37	2	97007486	97007486	+	Silent	SNP	G	G	A	rs139287054		TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr2:97007486G>A	ENST00000240423.4	+	2	169	c.126G>A	c.(124-126)gcG>gcA	p.A42A	NCAPH_ENST00000427946.1_Intron|NCAPH_ENST00000455200.1_Silent_p.A31A	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	42					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				CCAGGAAGGCGCCTCTCAATA	0.582																																						uc002svz.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(124-126)gcG>gcA		Homo sapiens non-SMC condensin I complex, subunit H (NCAPH), mRNA.		G		1,4405	2.1+/-5.4	0,1,2202	71.0	76.0	74.0		126	-3.7	0.6	2	dbSNP_134	74	0,8600		0,0,4300	no	coding-synonymous	NCAPH	NM_015341.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		42/742	97007486	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23397				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus		g.chr2:97007486G>A	BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"""barren (Drosophila) homolog"", ""barren homolog (Drosophila)"", ""barren homolog 1 (Drosophila)"""	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.126G>A	2.37:g.97007486G>A						NCAPH_uc010fhu.1_Silent_p.A18A|NCAPH_uc010fhv.1_Silent_p.A31A|NCAPH_uc010yum.1_Silent_p.A18A|NCAPH_uc010yun.1_Intron	p.A42A	NM_015341	NP_056156	Q15003	CND2_HUMAN			1	210	+		Ovarian(717;0.0221)	42					B4E189|Q8TB87	Silent	SNP	ENST00000240423.4	37	c.126G>A	CCDS2021.1																																																																																				0.582	NCAPH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252842.2	NM_015341	
INHBB	3625	broad.mit.edu	37	2	121107075	121107075	+	Silent	SNP	C	C	T	rs61737548	byFrequency	TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr2:121107075C>T	ENST00000295228.3	+	2	895	c.849C>T	c.(847-849)ggC>ggT	p.G283G		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	283					activin receptor signaling pathway (GO:0032924)|cell differentiation (GO:0030154)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|cellular response to starvation (GO:0009267)|defense response (GO:0006952)|fat cell differentiation (GO:0045444)|growth (GO:0040007)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of hepatocyte growth factor biosynthetic process (GO:0048178)|negative regulation of insulin secretion (GO:0046676)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|response to mechanical stimulus (GO:0009612)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|host cell surface receptor binding (GO:0046789)|protein homodimerization activity (GO:0042803)	p.G283G(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				CTCGGCTGGGCGACAGCAGGC	0.642													C|||	150	0.0299521	0.1067	0.0115	5008	,	,		17465	0.0		0.001	False		,,,				2504	0.0					uc002tmn.2																			1	Substitution - coding silent(1)	p.G283G(2)	pancreas(1)	NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15						c.(847-849)ggC>ggT		Homo sapiens inhibin, beta B (INHBB), mRNA.		C		481,3925	221.0+/-238.3	31,419,1753	55.0	57.0	56.0		849	-9.4	0.4	2	dbSNP_129	56	8,8592	6.4+/-24.3	0,8,4292	no	coding-synonymous	INHBB	NM_002193.2		31,427,6045	TT,TC,CC		0.093,10.9169,3.7598		283/408	121107075	489,12517	2203	4300	6503	SO:0001819	synonymous_variant	3625				activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity	g.chr2:121107075C>T		CCDS2132.1	2q14.2	2014-01-30	2007-07-30		ENSG00000163083	ENSG00000163083		"""Endogenous ligands"""	6067	protein-coding gene	gene with protein product		147390	"""inhibin, beta B (activin AB beta polypeptide)"""			3345731	Standard	NM_002193		Approved		uc002tmn.2	P09529	OTTHUMG00000131437	ENST00000295228.3:c.849C>T	2.37:g.121107075C>T							p.G283G	NM_002193	NP_002184	P09529	INHBB_HUMAN			1	895	+		Prostate(154;0.122)	283					Q53T31|Q8N1D3	Silent	SNP	ENST00000295228.3	37	c.849C>T	CCDS2132.1																																																																																				0.642	INHBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254234.1		
KCNH7	90134	broad.mit.edu	37	2	163302846	163302846	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr2:163302846C>G	ENST00000332142.5	-	7	1335	c.1236G>C	c.(1234-1236)tgG>tgC	p.W412C	KCNH7_ENST00000328032.4_Missense_Mutation_p.W405C	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	412					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	GCAGGATAAGCCAGTCCCAGA	0.458																																					GBM(196;1492 2208 17507 24132 45496)	uc002uch.2																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(1234-1236)tgG>tgC		Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	Ibutilide(DB00308)						93.0	88.0	90.0					2																	163302846		2203	4299	6502	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163302846C>G	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.1236G>C	2.37:g.163302846C>G	ENSP00000331727:p.Trp412Cys					KCNH7_uc002uci.3_Missense_Mutation_p.W405C	p.W412C	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN			6	1465	-			412					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.1236G>C	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947252	0.73672	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.97505	-4.41;-4.41	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.98979	0.9652	H	0.94542	3.55	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.95	D	0.99437	1.0937	10	0.87932	D	0	.	19.4994	0.95086	0.0:1.0:0.0:0.0	.	405;412	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	C	412;405	ENSP00000331727:W412C;ENSP00000333781:W405C	ENSP00000333781:W405C	W	-	3	0	KCNH7	163011092	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	7.770000	0.85390	2.616000	0.88540	0.650000	0.86243	TGG		0.458	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272	
XIRP2	129446	broad.mit.edu	37	2	168103799	168103799	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr2:168103799A>G	ENST00000409195.1	+	9	5986	c.5897A>G	c.(5896-5898)cAg>cGg	p.Q1966R	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.Q1966R|XIRP2_ENST00000409273.1_Missense_Mutation_p.Q1744R	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1791					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GATATTCATCAGGTTGCTGTC	0.448																																						uc002udx.3																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(5896-5898)cAg>cGg		Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.							43.0	41.0	42.0					2																	168103799		1903	4116	6019	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168103799A>G	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.5897A>G	2.37:g.168103799A>G	ENSP00000386840:p.Gln1966Arg					XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.Q1791R|XIRP2_uc010fpq.3_Missense_Mutation_p.Q1744R|XIRP2_uc010fpr.3_Intron	p.Q1966R	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	5986	+			1791					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.5897A>G	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	2.845	-0.239636	0.05944	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.03004	4.08;4.08;4.08	5.2	-1.8	0.07907	.	0.379899	0.29594	N	0.011709	T	0.03053	0.0090	L	0.56769	1.78	0.09310	N	1	B;B;P	0.38078	0.294;0.418;0.617	B;B;B	0.33960	0.084;0.173;0.124	T	0.34750	-0.9816	10	0.48119	T	0.1	0.1029	1.8127	0.03094	0.4682:0.2644:0.1464:0.121	.	1791;1791;1744	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	R	1966;1966;1744	ENSP00000386840:Q1966R;ENSP00000295237:Q1966R;ENSP00000387255:Q1744R	ENSP00000295237:Q1966R	Q	+	2	0	XIRP2	167812045	0.001000	0.12720	0.009000	0.14445	0.065000	0.16274	1.459000	0.35234	-0.442000	0.07190	0.528000	0.53228	CAG		0.448	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	uc002vcs.3				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	3	641	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1		
SIRPB1	10326	broad.mit.edu	37	20	1600539	1600539	+	Missense_Mutation	SNP	T	T	A			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr20:1600539T>A	ENST00000381605.4	-	1	116	c.52A>T	c.(52-54)Acg>Tcg	p.T18S	SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T18S|SIRPB1_ENST00000279477.7_Missense_Mutation_p.T18S|RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.T18S|SIRPB1_ENST00000381603.3_Missense_Mutation_p.T18S	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	18					cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						AGCAGTAGCGTCATCAGCAGG	0.567																																						uc010gai.3																			0				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(52-54)Acg>Tcg		Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.							98.0	87.0	91.0					20																	1600539		2203	4300	6503	SO:0001583	missense	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1600539T>A	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.52A>T	20.37:g.1600539T>A	ENSP00000371018:p.Thr18Ser					SIRPB1_uc002wfk.4_Missense_Mutation_p.T18S|SIRPB1_uc002wfl.4_Missense_Mutation_p.T18S	p.T18S	NM_006065	NP_006056	O00241	SIRB1_HUMAN			0	151	-			18					A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	c.52A>T	CCDS13019.1	.	.	.	.	.	.	.	.	.	.	.	0.479	-0.880575	0.02530	.	.	ENSG00000101307	ENST00000381605;ENST00000381603;ENST00000279477;ENST00000381596	T;T;T	0.11604	4.29;4.66;2.76	1.85	-3.69	0.04450	Immunoglobulin-like (2);	1.124470	0.06983	U	0.820185	T	0.07863	0.0197	L	0.52364	1.645	0.09310	N	1	B;B;B	0.20550	0.01;0.003;0.046	B;B;B	0.17722	0.013;0.005;0.019	T	0.41288	-0.9517	10	0.23891	T	0.37	.	0.4519	0.00502	0.2049:0.3093:0.2075:0.2783	.	18;18;18	O00241;Q5TFQ8;O00241-2	SIRB1_HUMAN;SIRBL_HUMAN;.	S	18	ENSP00000371018:T18S;ENSP00000371016:T18S;ENSP00000279477:T18S	ENSP00000279477:T18S	T	-	1	0	SIRPB1	1548539	0.005000	0.15991	0.002000	0.10522	0.002000	0.02628	-0.578000	0.05841	-1.369000	0.02147	-0.526000	0.04340	ACG		0.567	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065	
PLAGL2	5326	broad.mit.edu	37	20	30785118	30785118	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr20:30785118G>C	ENST00000246229.4	-	3	892	c.628C>G	c.(628-630)Cta>Gta	p.L210V		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	210					chylomicron assembly (GO:0034378)|lipid metabolic process (GO:0006629)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|post-embryonic development (GO:0009791)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TGCACCACTAGGTGCCGCCGT	0.612																																					Colon(163;15 1893 11280 16306 47518)	uc002wxn.2																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						c.(628-630)Cta>Gta		Homo sapiens pleiomorphic adenoma gene-like 2 (PLAGL2), mRNA.							39.0	28.0	32.0					20																	30785118		2203	4300	6503	SO:0001583	missense	5326					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:30785118G>C		CCDS13197.1	20q11.21	2013-01-08			ENSG00000126003	ENSG00000126003		"""Zinc fingers, C2H2-type"""	9047	protein-coding gene	gene with protein product	"""C2H2-type zinc finger protein"""	604866				15585652, 17950244	Standard	NM_002657		Approved	ZNF900	uc002wxn.2	Q9UPG8	OTTHUMG00000032210	ENST00000246229.4:c.628C>G	20.37:g.30785118G>C	ENSP00000246229:p.Leu210Val						p.L210V	NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		2	845	-			210					A8K8T5|E1P5M3|Q92584	Missense_Mutation	SNP	ENST00000246229.4	37	c.628C>G	CCDS13197.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.260786	0.39995	.	.	ENSG00000126003	ENST00000246229	T	0.61040	0.14	5.24	4.3	0.51218	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.058466	0.64402	D	0.000002	T	0.39989	0.1099	N	0.11845	0.185	0.41460	D	0.988038	P	0.42692	0.787	B	0.44108	0.441	T	0.33497	-0.9866	10	0.45353	T	0.12	.	7.0912	0.25285	0.1463:0.0:0.7146:0.1391	.	210	Q9UPG8	PLAL2_HUMAN	V	210	ENSP00000246229:L210V	ENSP00000246229:L210V	L	-	1	2	PLAGL2	30248779	1.000000	0.71417	0.998000	0.56505	0.949000	0.60115	1.484000	0.35508	1.460000	0.47911	0.555000	0.69702	CTA		0.612	PLAGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078615.2	NM_002657	
PPDPF	79144	broad.mit.edu	37	20	62153045	62153045	+	Missense_Mutation	SNP	A	A	C			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr20:62153045A>C	ENST00000370179.3	+	4	354	c.158A>C	c.(157-159)cAt>cCt	p.H53P	PPDPF_ENST00000370177.1_Missense_Mutation_p.H79P|PPDPF_ENST00000473620.1_3'UTR	NM_024299.2	NP_077275.1	Q9H3Y8	PPDPF_HUMAN	pancreatic progenitor cell differentiation and proliferation factor	53					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)					kidney(1)|lung(2)|ovary(1)	4						GACCCGGGTCATTGGTGGGCC	0.637																																						uc002yff.3																			0				kidney(1)|lung(2)|ovary(1)	4						c.(157-159)cAt>cCt		Homo sapiens pancreatic progenitor cell differentiation and proliferation factor homolog (zebrafish) (PPDPF), mRNA.							69.0	70.0	69.0					20																	62153045		2203	4300	6503	SO:0001583	missense	79144				cell differentiation|multicellular organismal development			g.chr20:62153045A>C	AL121829	CCDS13523.1	20q13.33	2013-07-23	2013-07-23	2009-06-04	ENSG00000125534	ENSG00000125534			16142	protein-coding gene	gene with protein product	"""exocrine differentiation and proliferation factor"""		"""chromosome 20 open reading frame 149"", ""pancreatic progenitor cell differentiation and proliferation factor homolog (zebrafish)"""	C20orf149			Standard	NM_024299		Approved	dJ697K14.9, exdpf	uc002yff.3	Q9H3Y8	OTTHUMG00000032978	ENST00000370179.3:c.158A>C	20.37:g.62153045A>C	ENSP00000359198:p.His53Pro						p.H53P	NM_024299	NP_077275	Q9H3Y8	PPDPF_HUMAN			3	298	+			53					E1P5J2|Q4VXP1|Q9H3Y7	Missense_Mutation	SNP	ENST00000370179.3	37	c.158A>C	CCDS13523.1	.	.	.	.	.	.	.	.	.	.	.	15.23	2.771939	0.49680	.	.	ENSG00000125534	ENST00000370179;ENST00000370178;ENST00000370177	.	.	.	4.62	3.51	0.40186	.	0.213251	0.47852	N	0.000201	T	0.56016	0.1957	M	0.82056	2.57	0.53688	D	0.999976	P	0.38078	0.617	B	0.32677	0.15	T	0.60078	-0.7333	9	0.87932	D	0	-22.2245	11.0627	0.47957	0.8439:0.1561:0.0:0.0	.	53	Q9H3Y8	PPDPF_HUMAN	P	53;53;79	.	ENSP00000359196:H79P	H	+	2	0	PPDPF	61623489	1.000000	0.71417	0.942000	0.38095	0.623000	0.37688	6.574000	0.74014	0.609000	0.30018	0.528000	0.53228	CAT		0.637	PPDPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080149.1		
C21orf91	54149	broad.mit.edu	37	21	19169182	19169182	+	Silent	SNP	T	T	C			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr21:19169182T>C	ENST00000400558.3	-	3	471	c.381A>G	c.(379-381)ccA>ccG	p.P127P	C21orf91_ENST00000284881.4_Silent_p.P127P|C21orf91_ENST00000400559.3_Silent_p.P127P|C21orf91_ENST00000493464.1_5'UTR|AL109761.5_ENST00000428689.1_RNA	NM_001100421.1	NP_001093891.1			chromosome 21 open reading frame 91											endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9				Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)		ATTTTTCTTCTGGCTTATGCC	0.383																																						uc002yko.4																			0				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9						c.(379-381)ccA>ccG		Homo sapiens chromosome 21 open reading frame 91 (C21orf91), transcript variant 1, mRNA.							125.0	113.0	117.0					21																	19169182		1818	4084	5902	SO:0001819	synonymous_variant	54149							g.chr21:19169182T>C	AF239726	CCDS42907.1, CCDS42908.1, CCDS42909.1	21q21.1	2011-12-12	2003-07-22		ENSG00000154642	ENSG00000154642			16459	protein-coding gene	gene with protein product	"""cold sore susceptibility gene 1"", ""early undifferentiated retina and lens"""		"""chromosome 21 open reading frame 38"""	C21orf38, C21orf14		22039568	Standard	NM_001100421		Approved	YG81, EURL, CSSG1	uc002yko.4	Q9NYK6	OTTHUMG00000074509	ENST00000400558.3:c.381A>G	21.37:g.19169182T>C						C21orf91_uc002ykq.4_Silent_p.P127P|C21orf91_uc002ykp.4_Silent_p.P127P	p.P127P	NM_001100420	NP_001093890	Q9NYK6	EURL_HUMAN		Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)	2	472	-			127						Silent	SNP	ENST00000400558.3	37	c.381A>G	CCDS42909.1																																																																																				0.383	C21orf91-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000158214.1	NM_017447	
KRTAP22-1	337979	broad.mit.edu	37	21	31973461	31973461	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr21:31973461C>T	ENST00000334680.2	+	1	48	c.22C>T	c.(22-24)Cat>Tat	p.H8Y	KRTAP6-2_ENST00000334897.3_5'Flank	NM_181620.1	NP_853651.1	Q3MIV0	KR221_HUMAN	keratin associated protein 22-1	8						intermediate filament (GO:0005882)				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	8						TAACAACTACCATGGTGGCCA	0.453																																						uc011add.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	8						c.(22-24)Cat>Tat		Homo sapiens keratin associated protein 22-1 (KRTAP22-1), mRNA.							153.0	143.0	146.0					21																	31973461		2203	4300	6503	SO:0001583	missense	337979					intermediate filament		g.chr21:31973461C>T	AP001708	CCDS13601.1	21q22.1	2011-02-10			ENSG00000186924	ENSG00000186924		"""Keratin associated proteins"""	18947	protein-coding gene	gene with protein product						12359730	Standard	NM_181620		Approved	KAP22.1	uc011add.2	Q3MIV0	OTTHUMG00000057778	ENST00000334680.2:c.22C>T	21.37:g.31973461C>T	ENSP00000333887:p.His8Tyr					KRTAP6-2_uc011adc.2_5'Flank	p.H8Y	NM_181620	NP_853651	Q3MIV0	KR221_HUMAN			0	22	+			8						Missense_Mutation	SNP	ENST00000334680.2	37	c.22C>T	CCDS13601.1	.	.	.	.	.	.	.	.	.	.	C	7.667	0.686140	0.14973	.	.	ENSG00000186924	ENST00000334680	T	0.07908	3.15	3.64	-1.64	0.08318	.	1.043170	0.07640	N	0.930211	T	0.05914	0.0154	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43294	-0.9400	9	0.87932	D	0	.	3.1552	0.06502	0.1978:0.3695:0.0:0.4327	.	8	Q3MIV0	KR221_HUMAN	Y	8	ENSP00000333887:H8Y	ENSP00000333887:H8Y	H	+	1	0	KRTAP22-1	30895332	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.064000	0.11636	-0.306000	0.08818	-0.793000	0.03317	CAT		0.453	KRTAP22-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128230.2		
APOBEC3B	9582	broad.mit.edu	37	22	39382073	39382073	+	Missense_Mutation	SNP	G	G	A	rs200407707		TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr22:39382073G>A	ENST00000333467.3	+	3	476	c.431G>A	c.(430-432)cGc>cAc	p.R144H	APOBEC3B_ENST00000402182.3_Missense_Mutation_p.R144H|APOBEC3B_ENST00000407298.3_Missense_Mutation_p.R144H	NM_001270411.1|NM_004900.4	NP_001257340.1|NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	144					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|negative regulation of transposition (GO:0010529)	nucleus (GO:0005634)	deoxycytidine deaminase activity (GO:0047844)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					GCAGGAGCCCGCGTGACGATC	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		14866	0.0		0.001	False		,,,				2504	0.0					uc003awo.1																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13						c.(430-432)cGc>cAc		Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B (APOBEC3B), mRNA.		G	HIS/ARG	0,4394		0,0,2197	51.0	56.0	54.0		431	-4.1	0.0	22		54	1,8557		0,1,4278	no	missense	APOBEC3B	NM_004900.3	29	0,1,6475	AA,AG,GG		0.0117,0.0,0.0077	probably-damaging	144/383	39382073	1,12951	2197	4279	6476	SO:0001583	missense	9582				negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding	g.chr22:39382073G>A	AK024854	CCDS13982.1, CCDS58807.1	22q13.1-q13.2	2008-05-15			ENSG00000179750	ENSG00000179750		"""Apolipoprotein B mRNA editing enzymes"""	17352	protein-coding gene	gene with protein product	"""phorbolin 3"""	607110				11863358, 10469298	Standard	NM_004900		Approved	PHRBNL, FLJ21201	uc003awo.2	Q9UH17	OTTHUMG00000151085	ENST00000333467.3:c.431G>A	22.37:g.39382073G>A	ENSP00000327459:p.Arg144His					APOBEC3B_uc011aoc.1_Intron|APOBEC3B_uc003awp.1_Missense_Mutation_p.R144H|APOBEC3B_uc003awq.1_Non-coding_Transcript	p.R144H	NM_004900	NP_004891	Q9UH17	ABC3B_HUMAN			2	485	+	Melanoma(58;0.04)		144					B0QYD2|O95618|Q20WL1|Q5IFJ4|Q7Z2N3|Q7Z6D6|Q9UE74	Missense_Mutation	SNP	ENST00000333467.3	37	c.431G>A	CCDS13982.1	.	.	.	.	.	.	.	.	.	.	.	12.32	1.901239	0.33535	0.0	1.17E-4	ENSG00000179750	ENST00000407298;ENST00000402182;ENST00000333467	T;T;T	0.64991	-0.13;-0.13;-0.13	2.12	-4.07	0.03975	APOBEC-like, C-terminal (1);Cytidine deaminase-like (1);	.	.	.	.	T	0.56992	0.2023	L	0.31664	0.95	0.09310	N	1	B;D	0.69078	0.0;0.997	B;D	0.64144	0.001;0.922	T	0.49960	-0.8883	9	0.30854	T	0.27	.	4.2649	0.10759	0.4142:0.3334:0.2524:0.0	.	144;144	B0QYD2;Q9UH17	.;ABC3B_HUMAN	H	144	ENSP00000385068:R144H;ENSP00000385060:R144H;ENSP00000327459:R144H	ENSP00000327459:R144H	R	+	2	0	APOBEC3B	37712019	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.070000	0.03440	-1.115000	0.02973	-1.111000	0.02071	CGC		0.587	APOBEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321233.1	NM_004900	
CELSR1	9620	broad.mit.edu	37	22	46805742	46805742	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr22:46805742G>A	ENST00000262738.3	-	8	4968	c.4969C>T	c.(4969-4971)Cgg>Tgg	p.R1657W		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1657	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TTCTGACACCGCCTCCCATCG	0.622																																						uc003bhw.1																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(4969-4971)Cgg>Tgg		Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.							164.0	135.0	145.0					22																	46805742		2203	4300	6503	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46805742G>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.4969C>T	22.37:g.46805742G>A	ENSP00000262738:p.Arg1657Trp					CELSR1_uc011arc.1_5'Flank	p.R1657W	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	7	4969	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1657			EGF-like 4; calcium-binding.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.4969C>T	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	G	1.989	-0.432325	0.04669	.	.	ENSG00000075275	ENST00000262738	D	0.92397	-3.03	4.22	2.0	0.26442	Concanavalin A-like lectin/glucanase, subgroup (1);EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	1.298600	0.05670	N	0.588505	D	0.86213	0.5879	N	0.25485	0.75	0.18873	N	0.999989	B	0.09022	0.002	B	0.04013	0.001	T	0.72469	-0.4284	10	0.49607	T	0.09	.	6.1108	0.20100	0.7467:0.1627:0.0906:0.0	.	1657	Q9NYQ6	CELR1_HUMAN	W	1657	ENSP00000262738:R1657W	ENSP00000262738:R1657W	R	-	1	2	CELSR1	45184406	0.000000	0.05858	0.011000	0.14972	0.023000	0.10783	0.038000	0.13862	0.136000	0.18733	-0.302000	0.09304	CGG		0.622	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246	
KIF9	64147	broad.mit.edu	37	3	47284680	47284680	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr3:47284680A>G	ENST00000265529.3	-	17	2250	c.1570T>C	c.(1570-1572)Tac>Cac	p.Y524H	KIF9_ENST00000352910.4_Intron|KIF9_ENST00000452770.2_Missense_Mutation_p.Y524H|KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000335044.2_Missense_Mutation_p.Y524H|KIF9_ENST00000444589.2_Intron|KIF9_ENST00000487440.1_5'UTR			Q9HAQ2	KIF9_HUMAN	kinesin family member 9	524					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle disassembly (GO:1903008)|regulation of podosome assembly (GO:0071801)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|podosome (GO:0002102)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein dimerization activity (GO:0046983)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GTGGAAACGTAATCCAAGTCC	0.557																																					Colon(44;962 1147 15977 24541)	uc010hjp.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34						c.(1570-1572)Tac>Cac		Homo sapiens kinesin family member 9 (KIF9), transcript variant 4, mRNA.							101.0	80.0	87.0					3																	47284680		2203	4300	6503	SO:0001583	missense	64147				blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr3:47284680A>G	AF311212	CCDS2751.1, CCDS2752.1	3p21.31	2008-03-03			ENSG00000088727	ENSG00000088727		"""Kinesins"""	16666	protein-coding gene	gene with protein product		607910				11483511	Standard	NM_022342		Approved	MGC104186	uc003cqx.3	Q9HAQ2	OTTHUMG00000133512	ENST00000265529.3:c.1570T>C	3.37:g.47284680A>G	ENSP00000265529:p.Tyr524His					KIF9_uc003cqx.3_Missense_Mutation_p.Y524H|KIF9_uc003cqy.3_Intron|KIF9_uc011bat.1_Intron|FLJ39534_uc003cqw.2_Non-coding_Transcript	p.Y524H	NM_001134878	NP_878905	Q9HAQ2	KIF9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	16	2174	-		Acute lymphoblastic leukemia(5;0.164)	524					Q86Z28|Q9H8A4	Missense_Mutation	SNP	ENST00000265529.3	37	c.1570T>C	CCDS2752.1	.	.	.	.	.	.	.	.	.	.	A	0.036	-1.308830	0.01342	.	.	ENSG00000088727	ENST00000335044;ENST00000265529;ENST00000452770	T;T;T	0.42513	0.97;0.97;0.97	4.17	-8.34	0.00988	.	4.635360	0.00649	N	0.000554	T	0.17066	0.0410	N	0.08118	0	0.09310	N	1	B	0.27316	0.175	B	0.10450	0.005	T	0.10064	-1.0646	10	0.15066	T	0.55	.	6.269	0.20943	0.3599:0.4513:0.0:0.1888	.	524	Q9HAQ2	KIF9_HUMAN	H	524	ENSP00000333942:Y524H;ENSP00000265529:Y524H;ENSP00000391100:Y524H	ENSP00000265529:Y524H	Y	-	1	0	KIF9	47259684	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-3.141000	0.00586	-2.094000	0.00854	-1.222000	0.01597	TAC		0.557	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257475.2		
CACNA2D2	9254	broad.mit.edu	37	3	50405101	50405101	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr3:50405101C>T	ENST00000479441.1	-	27	2289	c.2290G>A	c.(2290-2292)Ggt>Agt	p.G764S	XXcos-LUCA11.5_ENST00000606589.1_Intron|XXcos-LUCA11.4_ENST00000606259.1_RNA|XXcos-LUCA11.4_ENST00000606665.1_RNA|XXcos-LUCA11.4_ENST00000607121.1_RNA|XXcos-LUCA11.4_ENST00000607088.1_RNA|XXcos-LUCA11.4_ENST00000607362.1_RNA|XXcos-LUCA11.4_ENST00000607583.1_RNA|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.G757S|CACNA2D2_ENST00000435965.1_Missense_Mutation_p.G764S|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.G757S|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.G688S|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.G757S|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.G757S|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.G764S			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	764					energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	GTGATGCCACCGTCTGTGGCA	0.642																																						uc003daq.3																			0				breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31						c.(2290-2292)Ggt>Agt		Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	Gabapentin(DB00996)						84.0	81.0	82.0					3																	50405101		2203	4300	6503	SO:0001583	missense	9254				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:50405101C>T	AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"""Calcium channel subunits"""	1400	protein-coding gene	gene with protein product	"""gene 26"""	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.2290G>A	3.37:g.50405101C>T	ENSP00000418081:p.Gly764Ser					CACNA2D2_uc003dap.3_Missense_Mutation_p.G757S	p.G764S	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	26	2328	-			764					A7MD15|Q9NY48|Q9UEW0|Q9Y268	Missense_Mutation	SNP	ENST00000479441.1	37	c.2290G>A	CCDS54588.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648513	0.67358	.	.	ENSG00000007402	ENST00000423994;ENST00000429770;ENST00000266039;ENST00000360963;ENST00000435965;ENST00000395083;ENST00000424201;ENST00000479441	T;T;T;T;T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59	5.38	5.38	0.77491	.	0.116985	0.64402	D	0.000020	T	0.82148	0.4974	M	0.75777	2.31	0.54753	D	0.999987	D;D	0.89917	0.979;1.0	P;D	0.71870	0.554;0.975	T	0.78373	-0.2229	10	0.17832	T	0.49	-11.4857	16.9217	0.86166	0.0:1.0:0.0:0.0	.	764;757	Q9NY47;Q9NY47-2	CA2D2_HUMAN;.	S	764;757;757;688;764;757;757;764	ENSP00000407393:G764S;ENSP00000404631:G757S;ENSP00000266039:G757S;ENSP00000354228:G688S;ENSP00000390526:G764S;ENSP00000378519:G757S;ENSP00000390329:G757S;ENSP00000418081:G764S	ENSP00000266039:G757S	G	-	1	0	CACNA2D2	50380105	1.000000	0.71417	0.757000	0.31301	0.276000	0.26787	7.446000	0.80609	2.537000	0.85549	0.655000	0.94253	GGT		0.642	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346457.1	NM_006030	
HPS3	84343	broad.mit.edu	37	3	148877986	148877986	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr3:148877986G>C	ENST00000296051.2	+	11	2166	c.2026G>C	c.(2026-2028)Gtg>Ctg	p.V676L	HPS3_ENST00000460120.1_Missense_Mutation_p.V511L	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	676					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			ATCGATCTTAGTGACATTGAC	0.438									Hermansky-Pudlak syndrome																													uc003ewu.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34						c.(2026-2028)Gtg>Ctg		Homo sapiens Hermansky-Pudlak syndrome 3 (HPS3), mRNA.							108.0	110.0	109.0					3																	148877986		2203	4300	6503	SO:0001583	missense	84343	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytoplasm		g.chr3:148877986G>C	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.2026G>C	3.37:g.148877986G>C	ENSP00000296051:p.Val676Leu					HPS3_uc011bnq.1_Missense_Mutation_p.V511L|HPS3_uc003ewv.1_Non-coding_Transcript	p.V676L	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		10	2166	+			676					A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Missense_Mutation	SNP	ENST00000296051.2	37	c.2026G>C	CCDS3140.1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.455902	0.01071	.	.	ENSG00000163755	ENST00000296051;ENST00000460120	T;T	0.62232	0.04;0.04	5.41	1.54	0.23209	.	0.353809	0.28952	N	0.013609	T	0.35653	0.0939	N	0.19112	0.55	0.25930	N	0.983003	B;B	0.12013	0.004;0.005	B;B	0.14023	0.01;0.01	T	0.27739	-1.0065	10	0.02654	T	1	-5.332	6.0215	0.19632	0.0636:0.1167:0.4962:0.3235	.	511;676	G5E9V4;Q969F9	.;HPS3_HUMAN	L	676;511	ENSP00000296051:V676L;ENSP00000418230:V511L	ENSP00000296051:V676L	V	+	1	0	HPS3	150360676	0.994000	0.37717	0.914000	0.36105	0.387000	0.30353	0.771000	0.26633	0.065000	0.16485	-1.364000	0.01208	GTG		0.438	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383	
IL7R	3575	broad.mit.edu	37	5	35871249	35871249	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr5:35871249G>C	ENST00000303115.3	+	4	600	c.471G>C	c.(469-471)aaG>aaC	p.K157N	IL7R_ENST00000343305.4_Missense_Mutation_p.K157N|IL7R_ENST00000506850.1_Missense_Mutation_p.K157N	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	157	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			ACTTGCAAAAGAAGTATGTAA	0.378			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency																															uc003jjs.3				Dom	yes		5	5p13	146661	"""Mis, O"""	interleukin 7 receptor	yes	Severe combined immune deficiency	L			"""ALL, ETP ALL"""		0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126						c.(469-471)aaG>aaC		Homo sapiens interleukin 7 receptor (IL7R), mRNA.							78.0	75.0	76.0					5																	35871249		2203	4300	6503	SO:0001583	missense	3575				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	g.chr5:35871249G>C	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.471G>C	5.37:g.35871249G>C	ENSP00000306157:p.Lys157Asn					IL7R_uc011coo.2_Missense_Mutation_p.K157N|IL7R_uc011cop.2_Non-coding_Transcript	p.K157N	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		3	560	+	all_lung(31;0.00015)		157			Fibronectin type-III.		B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Missense_Mutation	SNP	ENST00000303115.3	37	c.471G>C	CCDS3911.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.683875	0.68157	.	.	ENSG00000168685	ENST00000303115;ENST00000343305;ENST00000506850	D;T;T	0.95949	-3.86;-0.99;-0.99	5.56	3.7	0.42460	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.270973	0.37178	N	0.002220	D	0.95367	0.8496	L	0.54323	1.7	0.39303	D	0.964937	D;D	0.76494	0.989;0.999	P;P	0.62740	0.791;0.906	D	0.93707	0.7020	10	0.33141	T	0.24	-26.7427	7.1415	0.25558	0.0879:0.0:0.7439:0.1682	.	157;157	D6RGV2;P16871	.;IL7RA_HUMAN	N	157	ENSP00000306157:K157N;ENSP00000345819:K157N;ENSP00000421207:K157N	ENSP00000306157:K157N	K	+	3	2	IL7R	35907006	0.996000	0.38824	0.858000	0.33744	0.976000	0.68499	1.930000	0.40124	1.341000	0.45600	0.655000	0.94253	AAG		0.378	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2		
PLCXD3	345557	broad.mit.edu	37	5	41382006	41382006	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr5:41382006G>T	ENST00000377801.3	-	2	808	c.734C>A	c.(733-735)tCt>tAt	p.S245Y	PLCXD3_ENST00000328457.3_Missense_Mutation_p.S245Y			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	245					lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CACCACCTGAGATATAAAAAA	0.483																																						uc003jmm.1																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(733-735)tCt>tAt		Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.							82.0	87.0	85.0					5																	41382006		2203	4300	6503	SO:0001583	missense	345557				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr5:41382006G>T		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.734C>A	5.37:g.41382006G>T	ENSP00000367032:p.Ser245Tyr						p.S245Y	NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN			1	836	-			245					A6NL04	Missense_Mutation	SNP	ENST00000377801.3	37	c.734C>A	CCDS34150.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.447251	0.84101	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	.	.	.	6.07	6.07	0.98685	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.000000	0.85682	D	0.000000	T	0.77398	0.4124	M	0.77616	2.38	0.80722	D	1	D	0.61697	0.99	D	0.69142	0.962	T	0.70590	-0.4830	9	0.05721	T	0.95	-15.5809	20.6593	0.99626	0.0:0.0:1.0:0.0	.	245	Q63HM9	PLCX3_HUMAN	Y	245	.	ENSP00000333751:S245Y	S	-	2	0	PLCXD3	41417763	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.359000	0.97115	2.885000	0.99019	0.655000	0.94253	TCT		0.483	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875	
IL17B	27190	broad.mit.edu	37	5	148754111	148754111	+	Silent	SNP	G	G	A			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr5:148754111G>A	ENST00000261796.3	-	3	414	c.364C>T	c.(364-366)Ctg>Ttg	p.L122L	IL17B_ENST00000505432.1_5'UTR|RP11-394O4.3_ENST00000521756.1_RNA	NM_014443.2	NP_055258.1	Q9UHF5	IL17B_HUMAN	interleukin 17B	122					cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCAGACACAGGCACCGTGCC	0.647																																						uc003lqo.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1)	8						c.(364-366)Ctg>Ttg		Homo sapiens interleukin 17B (IL17B), mRNA.							35.0	35.0	35.0					5																	148754111		2203	4299	6502	SO:0001819	synonymous_variant	27190				cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity	g.chr5:148754111G>A	AF184969	CCDS4297.1	5q33.1	2011-07-14			ENSG00000127743	ENSG00000127743		"""Interleukins and interleukin receptors"""	5982	protein-coding gene	gene with protein product	"""neuronal interleukin-17-related factor"""	604627				10639155	Standard	NM_014443		Approved	IL-17B, ZCYTO7, IL-20, MGC138900, MGC138901, NIRF	uc003lqo.3	Q9UHF5	OTTHUMG00000130051	ENST00000261796.3:c.364C>T	5.37:g.148754111G>A							p.L122L	NM_014443	NP_055258	Q9UHF5	IL17B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	414	-			122					Q14CE5	Silent	SNP	ENST00000261796.3	37	c.364C>T	CCDS4297.1																																																																																				0.647	IL17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252330.1	NM_014443	
EHMT2	10919	broad.mit.edu	37	6	31847948	31847948	+	Silent	SNP	A	A	T			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr6:31847948A>T	ENST00000375537.4	-	28	3552	c.3546T>A	c.(3544-3546)atT>atA	p.I1182I	EHMT2_ENST00000375530.4_Silent_p.I1148I|EHMT2_ENST00000395728.3_Silent_p.I1239I|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Silent_p.I1205I|SLC44A4_ENST00000465707.1_5'Flank|SLC44A4_ENST00000544672.1_5'Flank|SLC44A4_ENST00000229729.6_5'Flank|SLC44A4_ENST00000375562.4_5'Flank	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1182					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GCTCCAGGGCAATGGCTTCGG	0.592																																						uc003nxz.1																			0				central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						c.(3544-3546)atT>atA		Homo sapiens euchromatic histone-lysine N-methyltransferase 2 (EHMT2), transcript variant NG36/G9a, mRNA.							60.0	54.0	56.0					6																	31847948		1511	2708	4219	SO:0001819	synonymous_variant	10919				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr6:31847948A>T	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.3546T>A	6.37:g.31847948A>T						EHMT2_uc003nxx.1_Silent_p.I380I|EHMT2_uc003nxy.1_Silent_p.I980I|EHMT2_uc011don.1_Silent_p.I1205I|EHMT2_uc003nya.1_Silent_p.I1148I|SLC44A4_uc011dol.2_5'Flank|SLC44A4_uc010jti.3_5'Flank|SLC44A4_uc011dom.2_5'Flank	p.I1182I	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN			27	3556	-			1182					B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Silent	SNP	ENST00000375537.4	37	c.3546T>A	CCDS4725.1																																																																																				0.592	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709	
AMD1	262	broad.mit.edu	37	6	111214026	111214026	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr6:111214026C>T	ENST00000368885.3	+	7	1040	c.704C>T	c.(703-705)tCg>tTg	p.S235L	AMD1_ENST00000368877.5_Missense_Mutation_p.S206L|AMD1_ENST00000368876.1_Missense_Mutation_p.S166L|AMD1_ENST00000368882.3_Missense_Mutation_p.S87L|AMD1_ENST00000451850.2_Missense_Mutation_p.S115L	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1	235					cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|S-adenosylmethioninamine biosynthetic process (GO:0006557)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)	adenosylmethionine decarboxylase activity (GO:0004014)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	GGAATGAAATCGGATGTGAGT	0.388																																						uc003puk.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8						c.(703-705)tCg>tTg		Homo sapiens adenosylmethionine decarboxylase 1 (AMD1), transcript variant 1, mRNA.	S-Adenosylmethionine(DB00118)						78.0	78.0	78.0					6																	111214026		2203	4300	6503	SO:0001583	missense	262				spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity	g.chr6:111214026C>T	M88006	CCDS5086.1, CCDS75504.1, CCDS75505.1	6q21	2014-05-13			ENSG00000123505	ENSG00000123505	4.1.1.50		457	protein-coding gene	gene with protein product		180980	"""S-adenosylmethionine decarboxylase 1"""				Standard	NM_001634		Approved	SAMDC	uc003puk.1	P17707	OTTHUMG00000015369	ENST00000368885.3:c.704C>T	6.37:g.111214026C>T	ENSP00000357880:p.Ser235Leu					AMD1_uc011eay.1_Missense_Mutation_p.S166L|AMD1_uc003pul.1_Missense_Mutation_p.S87L|AMD1_uc011eaz.1_Missense_Mutation_p.S206L|AMD1_uc011eba.1_Missense_Mutation_p.S115L	p.S235L	NM_001634	NP_001028231	P17707	DCAM_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	6	1026	+		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)	235					E1P5F7|Q5VXN4|Q5VXN6|Q9BWK4	Missense_Mutation	SNP	ENST00000368885.3	37	c.704C>T	CCDS5086.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.972495	0.34848	.	.	ENSG00000123505	ENST00000368885;ENST00000368882;ENST00000451850;ENST00000368877;ENST00000368876	.	.	.	5.13	4.26	0.50523	S-adenosylmethionine decarboxylase, core (2);	0.180968	0.49305	N	0.000146	T	0.53384	0.1793	M	0.71206	2.165	0.54753	D	0.999985	B;B;B	0.15930	0.015;0.005;0.009	B;B;B	0.17098	0.017;0.002;0.007	T	0.60566	-0.7238	9	0.62326	D	0.03	.	13.8116	0.63266	0.0:0.9255:0.0:0.0745	.	115;206;235	B4DZ60;A6NNH3;P17707	.;.;DCAM_HUMAN	L	235;87;115;206;166	.	ENSP00000357870:S166L	S	+	2	0	AMD1	111320719	1.000000	0.71417	1.000000	0.80357	0.542000	0.35054	5.656000	0.67988	1.298000	0.44778	-0.225000	0.12378	TCG		0.388	AMD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041816.1		
RNF148	378925	broad.mit.edu	37	7	122342705	122342705	+	Missense_Mutation	SNP	C	C	T	rs370211791		TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr7:122342705C>T	ENST00000434824.1	-	1	316	c.100G>A	c.(100-102)Gga>Aga	p.G34R	CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron|RNF148_ENST00000447240.1_Missense_Mutation_p.G34R|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	34						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						ATGGCTTTTCCGTTTGAGTCA	0.423																																						uc003vkk.1																			0		p.N33N(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						c.(100-102)Gga>Aga		Homo sapiens ring finger protein 148 (RNF148), mRNA.							71.0	62.0	65.0					7																	122342705		1874	4107	5981	SO:0001583	missense	378925					integral to membrane	zinc ion binding	g.chr7:122342705C>T	BC029264	CCDS47692.1	7q31.33	2013-01-09			ENSG00000235631	ENSG00000235631		"""RING-type (C3HC4) zinc fingers"""	22411	protein-coding gene	gene with protein product						8744354	Standard	NM_198085		Approved	MGC35222	uc003vkk.1	Q8N7C7	OTTHUMG00000157099	ENST00000434824.1:c.100G>A	7.37:g.122342705C>T	ENSP00000388207:p.Gly34Arg					CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron	p.G34R	NM_198085	NP_932351	Q8N7C7	RN148_HUMAN			0	317	-			34					A4D0X4|Q8N308	Missense_Mutation	SNP	ENST00000434824.1	37	c.100G>A	CCDS47692.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.780172	0.31502	.	.	ENSG00000235631	ENST00000434824;ENST00000447240	T	0.04317	3.65	5.4	4.51	0.55191	.	.	.	.	.	T	0.16938	0.0407	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;0.998	D;P	0.80764	0.994;0.836	T	0.00322	-1.1818	9	0.52906	T	0.07	.	13.3279	0.60469	0.0:0.9212:0.0:0.0788	.	34;34	C9JVJ0;Q8N7C7	.;RN148_HUMAN	R	34	ENSP00000388207:G34R	ENSP00000388207:G34R	G	-	1	0	RNF148	122129941	0.826000	0.29277	0.991000	0.47740	0.538000	0.34931	1.320000	0.33666	1.250000	0.43966	0.555000	0.69702	GGA		0.423	RNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347424.1	NM_198085	
TEX15	56154	broad.mit.edu	37	8	30705338	30705338	+	Missense_Mutation	SNP	A	A	T			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr8:30705338A>T	ENST00000256246.2	-	1	1270	c.1196T>A	c.(1195-1197)gTt>gAt	p.V399D	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	399					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AGATGAAATAACTGTATCAAT	0.333																																						uc003xil.3																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(1195-1197)gTt>gAt		Homo sapiens testis expressed 15 (TEX15), mRNA.							112.0	114.0	113.0					8																	30705338		2203	4299	6502	SO:0001583	missense	56154							g.chr8:30705338A>T	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.1196T>A	8.37:g.30705338A>T	ENSP00000256246:p.Val399Asp						p.V399D	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	0	1196	-			399						Missense_Mutation	SNP	ENST00000256246.2	37	c.1196T>A	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	A	12.33	1.905343	0.33628	.	.	ENSG00000133863	ENST00000256246	T	0.13538	2.58	5.38	4.2	0.49525	.	0.539313	0.16509	N	0.211337	T	0.21468	0.0517	L	0.32530	0.975	0.18873	N	0.999988	D	0.65815	0.995	D	0.66497	0.944	T	0.06770	-1.0808	10	0.87932	D	0	.	5.9781	0.19391	0.748:0.1671:0.0849:0.0	.	399	Q9BXT5	TEX15_HUMAN	D	399	ENSP00000256246:V399D	ENSP00000256246:V399D	V	-	2	0	TEX15	30824880	0.000000	0.05858	0.006000	0.13384	0.328000	0.28507	0.487000	0.22356	0.952000	0.37798	0.528000	0.53228	GTT		0.333	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1		
SYBU	55638	broad.mit.edu	37	8	110587269	110587269	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr8:110587269G>A	ENST00000422135.1	-	8	2373	c.1858C>T	c.(1858-1860)Ccc>Tcc	p.P620S	SYBU_ENST00000399066.3_Missense_Mutation_p.P617S|SYBU_ENST00000528647.1_Missense_Mutation_p.P619S|SYBU_ENST00000529175.1_Missense_Mutation_p.P414S|SYBU_ENST00000433638.1_Missense_Mutation_p.P620S|SYBU_ENST00000408889.3_Missense_Mutation_p.P501S|SYBU_ENST00000440310.1_Missense_Mutation_p.P620S|SYBU_ENST00000446070.2_Missense_Mutation_p.P619S|SYBU_ENST00000528331.1_Missense_Mutation_p.P501S|SYBU_ENST00000424158.2_Missense_Mutation_p.P625S|SYBU_ENST00000419099.1_Missense_Mutation_p.P619S|SYBU_ENST00000532779.1_Missense_Mutation_p.P552S|SYBU_ENST00000529690.1_Missense_Mutation_p.P490S|SYBU_ENST00000533171.1_Missense_Mutation_p.P620S|SYBU_ENST00000527707.1_5'Flank|SYBU_ENST00000276646.9_Missense_Mutation_p.P620S|SYBU_ENST00000408908.2_Missense_Mutation_p.P620S|SYBU_ENST00000533895.1_Missense_Mutation_p.P619S|SYBU_ENST00000533065.1_Missense_Mutation_p.P501S	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	620					regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						AGAACCGTGGGGACCACGGGG	0.622																																						uc010mcp.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						c.(1858-1860)Ccc>Tcc		Homo sapiens syntabulin (syntaxin-interacting) (SYBU), transcript variant 5, mRNA.							49.0	61.0	57.0					8																	110587269		2039	4169	6208	SO:0001583	missense	55638					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane		g.chr8:110587269G>A	AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"""syntaphilin-like"""	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.1858C>T	8.37:g.110587269G>A	ENSP00000407118:p.Pro620Ser					SYBU_uc003yni.4_Missense_Mutation_p.P617S|SYBU_uc003ynk.4_Missense_Mutation_p.P501S|SYBU_uc003ynj.4_Missense_Mutation_p.P620S|SYBU_uc010mco.3_Missense_Mutation_p.P619S|SYBU_uc003ynl.4_Missense_Mutation_p.P619S|SYBU_uc010mcq.3_Missense_Mutation_p.P620S|SYBU_uc003yno.4_Missense_Mutation_p.P501S|SYBU_uc010mcr.3_Missense_Mutation_p.P620S|SYBU_uc003ynm.4_Missense_Mutation_p.P619S|SYBU_uc003ynn.4_Missense_Mutation_p.P619S|SYBU_uc010mcs.3_Missense_Mutation_p.P501S|SYBU_uc010mct.3_Missense_Mutation_p.P620S|SYBU_uc010mcu.3_Missense_Mutation_p.P619S|SYBU_uc003ynp.4_Missense_Mutation_p.P552S|SYBU_uc010mcv.3_Missense_Mutation_p.P620S|SYBU_uc003ynh.4_Missense_Mutation_p.P414S|SYBU_uc011lhw.2_Missense_Mutation_p.P490S	p.P620S	NM_001099752	NP_001093225	Q9NX95	SYBU_HUMAN			7	2220	-			620					A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Missense_Mutation	SNP	ENST00000422135.1	37	c.1858C>T	CCDS47912.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.705095	0.88924	.	.	ENSG00000147642	ENST00000533895;ENST00000424158;ENST00000532779;ENST00000399066;ENST00000446070;ENST00000528331;ENST00000529175;ENST00000276646;ENST00000528647;ENST00000422135;ENST00000419099;ENST00000433638;ENST00000408908;ENST00000440310;ENST00000408889;ENST00000533065;ENST00000529690;ENST00000533171	.	.	.	5.97	5.97	0.96955	.	0.049608	0.85682	D	0.000000	D	0.83741	0.5320	M	0.80422	2.495	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;0.999;0.999;0.999	D	0.84699	0.0727	9	0.87932	D	0	-23.4398	19.4161	0.94700	0.0:0.0:1.0:0.0	.	490;552;619;620;617	B7Z4D2;Q9NX95-2;Q9NX95-3;Q9NX95;Q9NX95-4	.;.;.;SYBU_HUMAN;.	S	619;625;552;617;619;501;414;620;619;620;619;620;620;620;501;501;490;620	.	ENSP00000276646:P620S	P	-	1	0	SYBU	110656445	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	9.771000	0.98977	2.837000	0.97791	0.655000	0.94253	CCC		0.622	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385501.1	NM_017786	
HAS2	3037	broad.mit.edu	37	8	122641322	122641322	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr8:122641322G>A	ENST00000303924.4	-	2	796	c.259C>T	c.(259-261)Ctt>Ttt	p.L87F		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	87					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			GCGATGCAAAGGGCAACTGTT	0.423																																						uc003yph.2																		HAS2/PLAG1(10)	0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38						c.(259-261)Ctt>Ttt		Homo sapiens hyaluronan synthase 2 (HAS2), mRNA.							306.0	305.0	306.0					8																	122641322		2203	4300	6503	SO:0001583	missense	3037					integral to plasma membrane	hyaluronan synthase activity	g.chr8:122641322G>A	U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.259C>T	8.37:g.122641322G>A	ENSP00000306991:p.Leu87Phe						p.L87F	NM_005328	NP_005319	Q92819	HAS2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		1	797	-	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		87					Q32MM3	Missense_Mutation	SNP	ENST00000303924.4	37	c.259C>T	CCDS6335.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.531469	0.45073	.	.	ENSG00000170961	ENST00000303924;ENST00000443194	T	0.60040	0.22	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.61362	0.2341	M	0.63843	1.955	0.80722	D	1	P	0.37525	0.598	B	0.37888	0.26	T	0.61367	-0.7077	10	0.52906	T	0.07	-19.3481	20.8794	0.99867	0.0:0.0:1.0:0.0	.	87	Q92819	HAS2_HUMAN	F	87	ENSP00000306991:L87F	ENSP00000306991:L87F	L	-	1	0	HAS2	122710503	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	5.608000	0.67654	2.941000	0.99782	0.655000	0.94253	CTT		0.423	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	NM_005328	
C9orf152	401546	broad.mit.edu	37	9	112963591	112963591	+	Silent	SNP	C	C	T	rs376699609		TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr9:112963591C>T	ENST00000400613.4	-	2	966	c.357G>A	c.(355-357)acG>acA	p.T119T	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	119										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						TCTCCAGGTGCGTGTGCCATG	0.587																																						uc011lwk.2																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						c.(355-357)acG>acA		Homo sapiens chromosome 9 open reading frame 152 (C9orf152), mRNA.							95.0	87.0	90.0					9																	112963591		2203	4300	6503	SO:0001819	synonymous_variant	401546							g.chr9:112963591C>T	BX648620	CCDS35102.2	9q31.3	2012-04-03			ENSG00000188959	ENSG00000188959			31455	protein-coding gene	gene with protein product							Standard	NM_001012993		Approved	bA470J20.2	uc011lwk.2	Q5JTZ5	OTTHUMG00000020478	ENST00000400613.4:c.357G>A	9.37:g.112963591C>T						C9orf152_uc022blq.1_5'Flank	p.T119T	NM_001012993	NP_001013011	Q5JTZ5	CI152_HUMAN			1	911	-			119					A8MWT6	Silent	SNP	ENST00000400613.4	37	c.357G>A	CCDS35102.2																																																																																				0.587	C9orf152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053602.2	NM_001012993	
FCN1	2219	broad.mit.edu	37	9	137801822	137801822	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr9:137801822G>A	ENST00000371806.3	-	9	894	c.803C>T	c.(802-804)tCg>tTg	p.S268L		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	268	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell surface pattern recognition receptor signaling pathway (GO:0002752)|complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of interleukin-8 secretion (GO:2000484)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extrinsic component of external side of plasma membrane (GO:0031232)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|G-protein coupled receptor binding (GO:0001664)|signaling pattern recognition receptor activity (GO:0008329)			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		AGCACAATTCGAAGAACTCAC	0.488																																						uc004cfi.3																			0				endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(802-804)tCg>tTg		Homo sapiens ficolin (collagen/fibrinogen domain containing) 1 (FCN1), mRNA.							204.0	205.0	205.0					9																	137801822		2203	4300	6503	SO:0001583	missense	2219				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding	g.chr9:137801822G>A	D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265		"""Fibrinogen C domain containing"""	3623	protein-coding gene	gene with protein product		601252	"""ficolin (collagen/fibrinogen domain-containing) 1"""			8573080, 8884275	Standard	NM_002003		Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.803C>T	9.37:g.137801822G>A	ENSP00000360871:p.Ser268Leu						p.S268L	NM_002003	NP_001994	O00602	FCN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)	8	892	-		Myeloproliferative disorder(178;0.0333)	268			Fibrinogen C-terminal.		Q5VYV5|Q92596	Missense_Mutation	SNP	ENST00000371806.3	37	c.803C>T	CCDS6985.1	.	.	.	.	.	.	.	.	.	.	g	9.335	1.061451	0.19987	.	.	ENSG00000085265	ENST00000371806	T	0.76709	-1.04	3.2	-3.73	0.04398	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	.	.	.	.	T	0.63271	0.2497	L	0.52364	1.645	0.09310	N	1	P	0.47409	0.895	B	0.39119	0.291	T	0.56980	-0.7889	9	0.52906	T	0.07	.	2.781	0.05361	0.1041:0.4155:0.2008:0.2796	.	268	O00602	FCN1_HUMAN	L	268	ENSP00000360871:S268L	ENSP00000360871:S268L	S	-	2	0	FCN1	136941643	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.916000	0.01576	-0.505000	0.06568	-0.131000	0.14894	TCG		0.488	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054963.1	NM_002003	
ACE2	59272	broad.mit.edu	37	X	15589843	15589843	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chrX:15589843C>T	ENST00000252519.3	-	13	1843	c.1741G>A	c.(1741-1743)Gta>Ata	p.V581I	ACE2_ENST00000427411.1_Missense_Mutation_p.V581I			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	581					angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	AGTGGCCTTACATTCATGTTC	0.448																																						uc004cxa.1																			0				endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32						c.(1741-1743)Gta>Ata		Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 (ACE2), mRNA.	Moexipril(DB00691)						211.0	188.0	196.0					X																	15589843		2203	4300	6503	SO:0001583	missense	59272				angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding	g.chrX:15589843C>T	AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	300335	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"""			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.1741G>A	X.37:g.15589843C>T	ENSP00000252519:p.Val581Ile					ACE2_uc004cxb.2_Missense_Mutation_p.V581I	p.V581I	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN			12	1909	-	Hepatocellular(33;0.183)		581					C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Missense_Mutation	SNP	ENST00000252519.3	37	c.1741G>A	CCDS14169.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.336824	0.24253	.	.	ENSG00000130234	ENST00000252519;ENST00000427411	T;T	0.33438	1.41;1.41	5.44	4.56	0.56223	.	0.262247	0.37053	N	0.002279	T	0.51568	0.1682	M	0.89534	3.04	0.27922	N	0.938208	B	0.27656	0.184	B	0.43018	0.405	T	0.55611	-0.8114	10	0.72032	D	0.01	-9.0009	10.2044	0.43105	0.1531:0.7025:0.1444:0.0	.	581	Q9BYF1	ACE2_HUMAN	I	581	ENSP00000252519:V581I;ENSP00000389326:V581I	ENSP00000252519:V581I	V	-	1	0	ACE2	15499764	1.000000	0.71417	0.024000	0.17045	0.042000	0.13812	2.938000	0.48987	1.014000	0.39417	0.600000	0.82982	GTA		0.448	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1		
DMD	1756	broad.mit.edu	37	X	32490283	32490283	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chrX:32490283G>C	ENST00000357033.4	-	22	3153	c.2947C>G	c.(2947-2949)Cag>Gag	p.Q983E	DMD_ENST00000378677.2_Missense_Mutation_p.Q979E	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	983					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCACAGACCTGCAATTCCCCG	0.388																																						uc004dda.1																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(2947-2949)Cag>Gag		Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.							153.0	136.0	142.0					X																	32490283		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32490283G>C	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.2947C>G	X.37:g.32490283G>C	ENSP00000354923:p.Gln983Glu					DMD_uc004dcz.2_Missense_Mutation_p.Q860E|DMD_uc004dcy.1_Missense_Mutation_p.Q979E|DMD_uc004ddb.1_Missense_Mutation_p.Q975E|DMD_uc010ngo.1_Intron	p.Q983E	NM_004006	NP_004001	P11532	DMD_HUMAN			21	3191	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	983					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.2947C>G	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	9.959	1.222299	0.22457	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.33865	1.39;1.39	5.2	4.24	0.50183	.	0.243530	0.20657	U	0.088081	T	0.24812	0.0602	N	0.24115	0.695	0.80722	D	1	B;B;B	0.22800	0.015;0.075;0.019	B;B;B	0.25614	0.037;0.048;0.062	T	0.06770	-1.0808	10	0.41790	T	0.15	.	9.825	0.40905	0.0:0.0:0.4879:0.5121	.	975;983;979	P11532-4;P11532;E9PDN5	.;DMD_HUMAN;.	E	975;979;983;983;860	ENSP00000367948:Q979E;ENSP00000354923:Q983E	ENSP00000354923:Q983E	Q	-	1	0	DMD	32400204	1.000000	0.71417	0.979000	0.43373	0.144000	0.21451	4.351000	0.59398	2.166000	0.68216	0.544000	0.68410	CAG		0.388	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	
PHKA1	5255	broad.mit.edu	37	X	71843109	71843109	+	Silent	SNP	A	A	G			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chrX:71843109A>G	ENST00000373542.4	-	18	1969	c.1810T>C	c.(1810-1812)Ttg>Ctg	p.L604L	PHKA1_ENST00000373539.3_Silent_p.L604L|PHKA1_ENST00000541944.1_Silent_p.L604L|PHKA1_ENST00000373545.3_Silent_p.L604L|PHKA1_ENST00000339490.3_Silent_p.L604L	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	604					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					AACTCTGACAATTTACCTGTT	0.383																																						uc004eax.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(1810-1812)Ttg>Ctg		Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.							88.0	65.0	73.0					X																	71843109		2203	4300	6503	SO:0001819	synonymous_variant	5255				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:71843109A>G		CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.1810T>C	X.37:g.71843109A>G						PHKA1_uc004eay.4_Silent_p.L604L|PHKA1_uc011mqi.2_Silent_p.L604L	p.L604L	NM_002637	NP_002628	P46020	KPB1_HUMAN			17	2111	-	Renal(35;0.156)		604					B7ZL05|B7ZL07|Q2M3D7	Silent	SNP	ENST00000373542.4	37	c.1810T>C	CCDS14421.1																																																																																				0.383	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1		
P2RY10	27334	broad.mit.edu	37	X	78216344	78216344	+	Silent	SNP	C	C	T			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chrX:78216344C>T	ENST00000171757.2	+	4	607	c.327C>T	c.(325-327)tgC>tgT	p.C109C	P2RY10_ENST00000475374.1_3'UTR|P2RY10_ENST00000544091.1_Silent_p.C109C	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						GCCTGCTCTGCTTCTACCTGA	0.483																																						uc022bzl.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						c.(325-327)tgC>tgT		Homo sapiens purinergic receptor P2Y, G-protein coupled, 10 (P2RY10), transcript variant 2, mRNA.							120.0	111.0	114.0					X																	78216344		2203	4300	6503	SO:0001819	synonymous_variant	27334					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78216344C>T	AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.327C>T	X.37:g.78216344C>T						P2RY10_uc004ede.3_Silent_p.C109C|P2RY10_uc004edf.3_Silent_p.C109C	p.C109C	NM_198333	NP_938147	O00398	P2Y10_HUMAN			0	327	+			109					D3DTE5|Q4VBN7|Q86V16	Silent	SNP	ENST00000171757.2	37	c.327C>T	CCDS14442.1																																																																																				0.483	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1		
COL4A6	1288	broad.mit.edu	37	X	107435807	107435807	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chrX:107435807T>C	ENST00000372216.4	-	18	1179	c.1079A>G	c.(1078-1080)aAt>aGt	p.N360S	COL4A6_ENST00000538570.1_Missense_Mutation_p.N359S|COL4A6_ENST00000394872.2_Missense_Mutation_p.N360S|COL4A6_ENST00000545689.1_Missense_Mutation_p.N359S|COL4A6_ENST00000334504.7_Missense_Mutation_p.N359S	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	360	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						ATCTCCAGGATTACCTGGCAT	0.502									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	uc004enw.4																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						c.(1078-1080)aAt>aGt		Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.							47.0	34.0	38.0					X																	107435807		2203	4300	6503	SO:0001583	missense	1288	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107435807T>C	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.1079A>G	X.37:g.107435807T>C	ENSP00000361290:p.Asn360Ser					COL4A6_uc004env.4_Missense_Mutation_p.N359S|COL4A6_uc011msn.2_Missense_Mutation_p.N359S|COL4A6_uc010npk.3_Missense_Mutation_p.N359S	p.N360S	NM_001847	NP_001838	Q14031	CO4A6_HUMAN			17	1182	-			360			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	c.1079A>G	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	T	10.85	1.465967	0.26335	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.93366	-3.21;-3.21;-3.21;-3.21;-3.21	4.77	2.08	0.27032	.	0.708209	0.11671	N	0.540836	D	0.85080	0.5615	N	0.21282	0.65	0.23120	N	0.99827	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.08055	0.002;0.002;0.003;0.002	T	0.70978	-0.4725	10	0.21014	T	0.42	.	5.3434	0.15996	0.151:0.0:0.3875:0.4615	.	359;359;360;359	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	S	360;359;360;359;359;359	ENSP00000361290:N360S;ENSP00000334733:N359S;ENSP00000378340:N360S;ENSP00000443707:N359S;ENSP00000445236:N359S	ENSP00000334733:N359S	N	-	2	0	COL4A6	107322463	0.998000	0.40836	1.000000	0.80357	0.954000	0.61252	0.744000	0.26245	0.697000	0.31718	0.425000	0.28330	AAT		0.502	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2		
GABRQ	55879	broad.mit.edu	37	X	151820028	151820028	+	Missense_Mutation	SNP	A	A	C			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chrX:151820028A>C	ENST00000370306.2	+	8	961	c.941A>C	c.(940-942)cAt>cCt	p.H314P		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	314					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ATCGACTCACATCTGCGGGAT	0.468																																						uc004ffp.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52						c.(940-942)cAt>cCt		Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA.							312.0	252.0	272.0					X																	151820028		2203	4300	6503	SO:0001583	missense	55879					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	g.chrX:151820028A>C	U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	14454	protein-coding gene	gene with protein product	"""GABA(A) receptor, theta"""	300349	"""gamma-aminobutyric acid (GABA) receptor, theta"""			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.941A>C	X.37:g.151820028A>C	ENSP00000359329:p.His314Pro						p.H314P	NM_018558	NP_061028	Q9UN88	GBRT_HUMAN			7	961	+	Acute lymphoblastic leukemia(192;6.56e-05)		314					A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	ENST00000370306.2	37	c.941A>C	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	A	12.14	1.849400	0.32699	.	.	ENSG00000147402	ENST00000370306	D	0.85556	-2.0	5.88	3.42	0.39159	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.127459	0.36338	N	0.002655	D	0.88610	0.6483	M	0.66297	2.02	0.34700	D	0.726678	D	0.71674	0.998	D	0.68483	0.958	D	0.88206	0.2887	10	0.51188	T	0.08	.	5.5876	0.17283	0.7619:0.0:0.0845:0.1535	.	314	Q9UN88	GBRT_HUMAN	P	314	ENSP00000359329:H314P	ENSP00000359329:H314P	H	+	2	0	GABRQ	151570684	1.000000	0.71417	0.000000	0.03702	0.002000	0.02628	7.427000	0.80284	0.287000	0.22375	-0.323000	0.08544	CAT		0.468	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558	
