#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_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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_classification	i_context	i_dataset	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_type
SEPN1	57190	broad.mit.edu	37	1	26127534	26127534	+	Splice_Site	SNP	G	G	T			TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr1:26127534G>T	ENST00000374315.1	+	2	222	c.184G>T	c.(184-186)Gaa>Taa	p.E62*	SEPN1_ENST00000354177.4_Splice_Site_p.E62*|SEPN1_ENST00000361547.2_Splice_Site_p.E62*	NM_206926.1	NP_996809.1	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	62						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	calcium ion binding (GO:0005509)	p.E62*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCAAGCAGGAACTGGCGCT	0.582																																																1	Substitution - Nonsense(1)	ovary(1)	1											73.0	79.0	77.0					1																	26127534		1946	4147	6093	26000121	SO:0001630	splice_region_variant	57190			AF166125	CCDS41282.1, CCDS41283.1	1p36.13	2014-09-17	2004-02-13		ENSG00000162430	ENSG00000162430		"""EF-hand domain containing"""	15999	protein-coding gene	gene with protein product		606210	"""rigid spine muscular dystrophy 1"""	RSMD1, MDRS1		10608886	Standard	NM_020451		Approved	selN, RSS	uc021ojl.1	Q9NZV5	OTTHUMG00000007375	ENST00000374315.1:c.184-1G>T	1.37:g.26127534G>T		Unknown		x	x	x	26000121	A6NJG8|A8MQ64|Q6PI70|Q969F6|Q9NUI6	Nonsense_Mutation	SNP	ENST00000374315.1	37	CCDS41283.1	SNP	41	Broad	.	.	.	.	.	.	.	.	.	.	G	36	5.701070	0.96812	.	.	ENSG00000162430	ENST00000361547;ENST00000354177;ENST00000374315	.	.	.	4.74	3.82	0.43975	.	0.165679	0.52532	D	0.000075	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.9687	12.4988	0.55944	0.0815:0.0:0.9185:0.0	.	.	.	.	X	62	.	.	E	+	1	0	SEPN1	26000121	1.000000	0.71417	0.942000	0.38095	0.098000	0.18820	7.471000	0.80985	0.993000	0.38866	0.561000	0.74099	GAA		0.582	SEPN1-002	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000019315.2	NM_020451	Nonsense_Mutation	Nonsense_Mutation
ATXN7L2	127002	broad.mit.edu	37	1	110029637	110029637	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr1:110029637C>T	ENST00000369870.3	+	4	322	c.307C>T	c.(307-309)Cat>Tat	p.H103Y		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	103								p.H103Y(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		AGAAAGAAGACATGGGCCCCT	0.547																																																1	Substitution - Missense(1)	ovary(1)	1											28.0	34.0	32.0					1																	110029637		2203	4299	6502	109831160	SO:0001583	missense	127002			BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.307C>T	1.37:g.110029637C>T	ENSP00000358886:p.His103Tyr	Unknown		x	x	x	109831160		Missense_Mutation	SNP	ENST00000369870.3	37	CCDS30794.1	SNP	17	Broad	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919489	0.73098	.	.	ENSG00000162650	ENST00000369870;ENST00000541125	T	0.32515	1.45	4.57	4.57	0.56435	.	0.000000	0.49305	D	0.000142	T	0.38427	0.1040	L	0.59436	1.845	0.80722	D	1	P	0.45126	0.851	P	0.58391	0.838	T	0.25398	-1.0133	10	0.66056	D	0.02	-5.4602	14.2772	0.66187	0.0:1.0:0.0:0.0	.	103	Q5T6C5	AT7L2_HUMAN	Y	103	ENSP00000358886:H103Y	ENSP00000358886:H103Y	H	+	1	0	ATXN7L2	109831160	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.213000	0.65230	2.090000	0.63153	0.591000	0.81541	CAT		0.547	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030331.1	NM_153340		Missense_Mutation
ANKRD35	148741	broad.mit.edu	37	1	145563052	145563052	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr1:145563052G>A	ENST00000355594.4	+	10	2827	c.2740G>A	c.(2740-2742)Gag>Aag	p.E914K		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	914								p.E914K(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCTGCTGAAAGAGAAGATGGA	0.602																																					Melanoma(9;127 754 22988 51047)											1	Substitution - Missense(1)	ovary(1)	1											31.0	34.0	33.0					1																	145563052		2202	4298	6500	144274409	SO:0001583	missense	148741			AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.2740G>A	1.37:g.145563052G>A	ENSP00000347802:p.Glu914Lys	Unknown		x	x	x	144274409	A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	ENST00000355594.4	37	CCDS919.1	SNP	33	Broad	.	.	.	.	.	.	.	.	.	.	G	19.16	3.774519	0.70107	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.70282	-0.47	5.49	5.49	0.81192	.	0.381286	0.22380	N	0.060822	T	0.52208	0.1720	L	0.55103	1.725	0.80722	D	1	P	0.39665	0.682	B	0.32980	0.156	T	0.56171	-0.8023	10	0.33940	T	0.23	-6.5632	14.7509	0.69525	0.0:0.0:1.0:0.0	.	914	Q8N283	ANR35_HUMAN	K	823;914	ENSP00000347802:E914K	ENSP00000347802:E914K	E	+	1	0	ANKRD35	144274409	0.990000	0.36364	0.067000	0.19924	0.865000	0.49528	2.147000	0.42226	2.857000	0.98124	0.650000	0.86243	GAG		0.602	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		Missense_Mutation
S100A6	6277	broad.mit.edu	37	1	153507756	153507756	+	Silent	SNP	G	G	T	rs139774183	byFrequency	TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr1:153507756G>T	ENST00000368720.2	-	3	362	c.60C>A	c.(58-60)tcC>tcA	p.S20S	BX470102.3_ENST00000420695.1_RNA|S100A6_ENST00000368719.4_Silent_p.S20S|S100A6_ENST00000496817.1_Silent_p.S20S			P06703	S10A6_HUMAN	S100 calcium binding protein A6	20	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				axonogenesis (GO:0007409)|positive regulation of fibroblast proliferation (GO:0048146)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|ion transmembrane transporter activity (GO:0015075)|protein homodimerization activity (GO:0042803)|S100 protein binding (GO:0044548)|tropomyosin binding (GO:0005523)|zinc ion binding (GO:0008270)	p.S20S(1)		ovary(1)	1	all_lung(78;1.66e-32)|Lung NSC(65;5.71e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCTCCCTGCCGGAGTACTTGT	0.622																																																1	Substitution - coding silent(1)	ovary(1)	1											111.0	107.0	108.0					1																	153507756		2203	4300	6503	151774380	SO:0001819	synonymous_variant	6277			BC001431	CCDS1040.1	1q21	2013-01-10	2006-09-11		ENSG00000197956	ENSG00000197956		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10496	protein-coding gene	gene with protein product		114110	"""S100 calcium-binding protein A6 (calcyclin)"", ""S100 calcium binding protein A6 (calcyclin)"""	CACY			Standard	NM_014624		Approved	2A9, PRA, CABP	uc001fbw.1	P06703	OTTHUMG00000013549	ENST00000368720.2:c.60C>A	1.37:g.153507756G>T		Unknown		x	x	x	151774380	D3DV39|Q5RHS4	Silent	SNP	ENST00000368720.2	37	CCDS1040.1	SNP	39	Broad																																																																																				0.622	S100A6-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037723.2	NM_014624		Silent
RHBG	57127	broad.mit.edu	37	1	156351673	156351673	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr1:156351673G>T	ENST00000368249.1	+	6	955	c.917G>T	c.(916-918)gGg>gTg	p.G306V	RHBG_ENST00000400992.2_Missense_Mutation_p.G274V|RHBG_ENST00000368246.2_Missense_Mutation_p.G306V|RHBG_ENST00000255013.3_Missense_Mutation_p.G237V|RHBG_ENST00000451864.2_Intron|RHBG_ENST00000537040.1_Missense_Mutation_p.G144V	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	306					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	anchored component of plasma membrane (GO:0046658)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|spectrin-associated cytoskeleton (GO:0014731)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)	p.G306V(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					ACACCCTTTGGGGCTCTGGCA	0.562																																																1	Substitution - Missense(1)	ovary(1)	1											111.0	120.0	117.0					1																	156351673		2042	4193	6235	154618297	SO:0001583	missense	57127			AF193807		1q22	2013-05-22	2009-01-22		ENSG00000132677	ENSG00000132677		"""Solute carriers"""	14572	protein-coding gene	gene with protein product		607079	"""Rhesus blood group, B glycoprotein"""			10852913	Standard	NM_020407		Approved	SLC42A2	uc010pho.3	Q9H310	OTTHUMG00000024057	ENST00000368249.1:c.917G>T	1.37:g.156351673G>T	ENSP00000357232:p.Gly306Val	Unknown		x	x	x	154618297	A8K475|Q5SZW4|Q5SZW6|Q5SZW7|Q6P193|Q6YJI2|Q6YJI3	Missense_Mutation	SNP	ENST00000368249.1	37		SNP	43	Broad	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520764	0.85495	.	.	ENSG00000132677	ENST00000368249;ENST00000368246;ENST00000537040;ENST00000400992;ENST00000255013	T;T;T;T;T	0.25414	1.8;1.8;1.8;1.8;1.8	4.44	4.44	0.53790	Ammonium transporter AmtB-like (3);	0.000000	0.85682	D	0.000000	T	0.45094	0.1325	M	0.80332	2.49	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.991	D;D;D;P	0.97110	1.0;1.0;1.0;0.889	T	0.50440	-0.8828	10	0.66056	D	0.02	-11.948	14.5902	0.68359	0.0:0.0:1.0:0.0	.	306;144;274;343	Q9H310;F5GWZ4;Q9H310-3;Q5SZW5	RHBG_HUMAN;.;.;.	V	306;306;144;274;237	ENSP00000357232:G306V;ENSP00000357229:G306V;ENSP00000441197:G144V;ENSP00000383777:G274V;ENSP00000255013:G237V	ENSP00000255013:G237V	G	+	2	0	RHBG	154618297	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.418000	0.80167	2.286000	0.76751	0.561000	0.74099	GGG		0.562	RHBG-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000060589.2	NM_001256395		Missense_Mutation
NES	10763	broad.mit.edu	37	1	156645082	156645082	+	Silent	SNP	G	G	T			TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr1:156645082G>T	ENST00000368223.3	-	2	966	c.834C>A	c.(832-834)atC>atA	p.I278I		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	278	Coil 2B.|Rod.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)	p.I278I(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGACCTGAGCGATCTGGCTCT	0.652																																																1	Substitution - coding silent(1)	ovary(1)	1											87.0	77.0	80.0					1																	156645082		2203	4300	6503	154911706	SO:0001819	synonymous_variant	10763			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.834C>A	1.37:g.156645082G>T		Unknown		x	x	x	154911706	O00552|Q3LIF5|Q5SYZ6	Silent	SNP	ENST00000368223.3	37	CCDS1151.1	SNP	37	Broad																																																																																				0.652	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		Silent
INSRR	3645	broad.mit.edu	37	1	156823591	156823591	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr1:156823591C>A	ENST00000368195.3	-	2	986	c.590G>T	c.(589-591)aGc>aTc	p.S197I	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	197					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.S197I(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGTGTGCCCGCTGAAGGTGGT	0.607																																																1	Substitution - Missense(1)	ovary(1)	1											67.0	59.0	62.0					1																	156823591		2203	4300	6503	155090215	SO:0001583	missense	3645			J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.590G>T	1.37:g.156823591C>A	ENSP00000357178:p.Ser197Ile	Unknown		x	x	x	155090215	O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	CCDS1160.1	SNP	28	Broad	.	.	.	.	.	.	.	.	.	.	C	14.56	2.570848	0.45798	.	.	ENSG00000027644	ENST00000368195	T	0.30981	1.51	5.3	-0.00137	0.14035	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.800270	0.11141	N	0.595257	T	0.10380	0.0254	.	.	.	0.26171	N	0.979867	B	0.33826	0.427	B	0.37198	0.243	T	0.29243	-1.0018	9	0.87932	D	0	.	4.5911	0.12307	0.0:0.4285:0.1604:0.4111	.	197	P14616	INSRR_HUMAN	I	197	ENSP00000357178:S197I	ENSP00000357178:S197I	S	-	2	0	INSRR	155090215	0.830000	0.29337	0.181000	0.23098	0.956000	0.61745	1.384000	0.34396	0.204000	0.20548	0.557000	0.71058	AGC		0.607	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		Missense_Mutation
RABGAP1L	9910	broad.mit.edu	37	1	174190127	174190127	+	De_novo_Start_OutOfFrame	SNP	T	T	G			TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr1:174190127T>G	ENST00000367689.3	+	0	326				RABGAP1L_ENST00000251507.4_Missense_Mutation_p.D52E|RABGAP1L_ENST00000357444.6_Missense_Mutation_p.D15E			B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like									p.D52E(1)		NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						CTAATGGTGATGAACAATTGG	0.358																																																1	Substitution - Missense(1)	ovary(1)	1											114.0	117.0	116.0					1																	174190127		2203	4300	6503	172456750			9910			AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000367689.3:c.-904T>G	1.37:g.174190127T>G		Unknown		x	x	x	172456750	B7ZAA4	Missense_Mutation	SNP	ENST00000367689.3	37		SNP	51	Broad	.	.	.	.	.	.	.	.	.	.	T	24.3	4.518989	0.85495	.	.	ENSG00000152061	ENST00000357444;ENST00000251507;ENST00000457696;ENST00000367692	T;T;T	0.44881	0.91;3.54;0.95	5.6	5.6	0.85130	.	0.097634	0.64402	D	0.000001	T	0.37376	0.1001	L	0.27053	0.805	0.80722	D	1	P;B;P	0.49862	0.929;0.227;0.89	P;B;P	0.45881	0.48;0.138;0.496	T	0.30707	-0.9969	10	0.72032	D	0.01	.	14.0039	0.64451	0.0:0.0:0.0:1.0	.	52;52;15	B7WPG6;Q5R372;Q5R372-2	.;RBG1L_HUMAN;.	E	15;52;52;52	ENSP00000350027:D15E;ENSP00000251507:D52E;ENSP00000403136:D52E	ENSP00000251507:D52E	D	+	3	2	RABGAP1L	172456750	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.540000	0.60664	2.139000	0.66308	0.482000	0.46254	GAT		0.358	RABGAP1L-201	KNOWN	basic	protein_coding	protein_coding		NM_001243765		Missense_Mutation
CENPF	1063	broad.mit.edu	37	1	214813302	214813302	+	Nonsense_Mutation	SNP	C	C	T			TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr1:214813302C>T	ENST00000366955.3	+	12	1789	c.1621C>T	c.(1621-1623)Caa>Taa	p.Q541*		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.Q541*(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AAGAGATCTTCAAGAAAAAAT	0.333																																					Colon(80;575 1284 11000 14801 43496)											1	Substitution - Nonsense(1)	ovary(1)	1											79.0	92.0	88.0					1																	214813302		2199	4299	6498	212879925	SO:0001587	stop_gained	1063			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.1621C>T	1.37:g.214813302C>T	ENSP00000355922:p.Gln541*	Unknown		x	x	x	212879925	Q13171|Q13246|Q5VVM7	Nonsense_Mutation	SNP	ENST00000366955.3	37	CCDS31023.1	SNP	29	Broad	.	.	.	.	.	.	.	.	.	.	C	27.5	4.836579	0.91117	.	.	ENSG00000117724	ENST00000366955	.	.	.	5.17	3.23	0.37069	.	0.470539	0.15821	N	0.243000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	10.2351	0.43277	0.0:0.4256:0.4966:0.0778	.	.	.	.	X	541	.	ENSP00000355922:Q541X	Q	+	1	0	CENPF	212879925	0.774000	0.28592	0.999000	0.59377	0.213000	0.24496	0.406000	0.21032	0.632000	0.30432	-0.282000	0.10007	CAA		0.333	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		Nonsense_Mutation
RAB3GAP2	25782	broad.mit.edu	37	1	220338134	220338134	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr1:220338134C>T	ENST00000358951.2	-	27	3211	c.3095G>A	c.(3094-3096)cGt>cAt	p.R1032H		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	1032					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)	p.R1032H(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		AACAAAAAAACGTGCTTCCTT	0.303																																																1	Substitution - Missense(1)	ovary(1)	1											70.0	64.0	66.0					1																	220338134		2198	4294	6492	218404757	SO:0001583	missense	25782			AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.3095G>A	1.37:g.220338134C>T	ENSP00000351832:p.Arg1032His	Unknown		x	x	x	218404757	A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	ENST00000358951.2	37	CCDS31028.1	SNP	19	Broad	.	.	.	.	.	.	.	.	.	.	C	12.74	2.028764	0.35797	.	.	ENSG00000118873	ENST00000358951	T	0.32272	1.46	5.34	2.43	0.29744	.	0.372119	0.31566	N	0.007432	T	0.15349	0.0370	N	0.14661	0.345	0.31328	N	0.685214	B	0.14438	0.01	B	0.12837	0.008	T	0.06789	-1.0807	10	0.42905	T	0.14	.	5.5068	0.16858	0.1421:0.6445:0.0:0.2134	.	1032	Q9H2M9	RBGPR_HUMAN	H	1032	ENSP00000351832:R1032H	ENSP00000351832:R1032H	R	-	2	0	RAB3GAP2	218404757	0.998000	0.40836	1.000000	0.80357	0.952000	0.60782	1.613000	0.36900	0.758000	0.33059	-0.229000	0.12294	CGT		0.303	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414		Missense_Mutation
OR2M2	391194	broad.mit.edu	37	1	248343349	248343349	+	Missense_Mutation	SNP	G	G	A	rs34678055		TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr1:248343349G>A	ENST00000359682.2	+	1	62	c.62G>A	c.(61-63)aGc>aAc	p.S21N		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S21N(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	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;0.0245)			TTCAATCACAGCCCACCACAC	0.473																																																1	Substitution - Missense(1)	ovary(1)	1											241.0	235.0	237.0					1																	248343349		2203	4300	6503	246409972	SO:0001583	missense	391194			AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.62G>A	1.37:g.248343349G>A	ENSP00000352710:p.Ser21Asn	Unknown		x	x	x	246409972	A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	CCDS31106.1	SNP	34	Broad	.	.	.	.	.	.	.	.	.	.	g	10.31	1.315675	0.23908	.	.	ENSG00000198601	ENST00000359682	T	0.03035	4.07	0.855	0.855	0.19013	.	0.215514	0.22966	U	0.053495	T	0.04092	0.0114	L	0.56124	1.755	0.09310	N	1	B	0.20368	0.044	B	0.22386	0.039	T	0.31998	-0.9923	10	0.46703	T	0.11	.	5.4754	0.16692	0.1934:0.0:0.8066:0.0	.	21	Q96R28	OR2M2_HUMAN	N	21	ENSP00000352710:S21N	ENSP00000352710:S21N	S	+	2	0	OR2M2	246409972	0.000000	0.05858	0.030000	0.17652	0.230000	0.25150	-2.680000	0.00837	0.780000	0.33566	0.298000	0.19748	AGC		0.473	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		Missense_Mutation
ZEB1	6935	broad.mit.edu	37	10	31809760	31809760	+	Silent	SNP	T	T	C			TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr10:31809760T>C	ENST00000320985.10	+	7	1607	c.1497T>C	c.(1495-1497)gcT>gcC	p.A499A	ZEB1_ENST00000446923.2_Silent_p.A483A|ZEB1_ENST00000542815.3_Silent_p.A432A|ZEB1_ENST00000560721.2_Silent_p.A479A|ZEB1_ENST00000361642.5_Silent_p.A500A|ZEB1_ENST00000559858.1_3'UTR			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	499					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.A499A(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				ATCCAGTCGCTACAAACAGTT	0.373																																					Ovarian(40;423 959 14296 36701 49589)											1	Substitution - coding silent(1)	ovary(1)	10											54.0	62.0	59.0					10																	31809760		2203	4300	6503	31849766	SO:0001819	synonymous_variant	6935			AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.1497T>C	10.37:g.31809760T>C		Unknown		x	x	x	31849766	B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Silent	SNP	ENST00000320985.10	37	CCDS7169.1	SNP	53	Broad																																																																																				0.373	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		Silent
OR10A5	144124	broad.mit.edu	37	11	6867497	6867497	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr11:6867497T>A	ENST00000299454.4	+	1	615	c.584T>A	c.(583-585)cTg>cAg	p.L195Q	OR10A5_ENST00000379831.2_Missense_Mutation_p.L199Q			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	195					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L195Q(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GACACAGCACTGTTTGAGATC	0.512																																					Pancreas(44;21 1072 25662 28041 45559)											1	Substitution - Missense(1)	ovary(1)	11											259.0	209.0	226.0					11																	6867497		2201	4296	6497	6824073	SO:0001583	missense	144124			AF324499	CCDS7773.1	11p15.4	2012-08-09			ENSG00000166363	ENSG00000166363		"""GPCR / Class A : Olfactory receptors"""	15131	protein-coding gene	gene with protein product		608493		OR10A1			Standard	NM_178168		Approved	OR11-403, JCG6	uc001met.1	Q9H207	OTTHUMG00000165738	ENST00000299454.4:c.584T>A	11.37:g.6867497T>A	ENSP00000299454:p.Leu195Gln	Unknown		x	x	x	6824073	O95223|Q52M66|Q96R21|Q96R22	Missense_Mutation	SNP	ENST00000299454.4	37	CCDS7773.1	SNP	55	Broad	.	.	.	.	.	.	.	.	.	.	.	7.967	0.748222	0.15710	.	.	ENSG00000166363	ENST00000299454;ENST00000379831	T;T	0.00249	8.44;8.44	3.59	-4.45	0.03546	GPCR, rhodopsin-like superfamily (1);	1.268040	0.05680	N	0.590208	T	0.00210	0.0006	M	0.73753	2.245	0.09310	N	1	B	0.09022	0.002	B	0.18263	0.021	T	0.15607	-1.0431	10	0.36615	T	0.2	.	6.0162	0.19605	0.5299:0.0:0.1357:0.3344	.	195	Q9H207	O10A5_HUMAN	Q	195;199	ENSP00000299454:L195Q;ENSP00000369159:L199Q	ENSP00000299454:L195Q	L	+	2	0	OR10A5	6824073	0.000000	0.05858	0.419000	0.26584	0.949000	0.60115	-2.514000	0.00956	-0.894000	0.03925	0.482000	0.46254	CTG		0.512	OR10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385983.1	NM_178168		Missense_Mutation
MED19	219541	broad.mit.edu	37	11	57472256	57472256	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr11:57472256T>A	ENST00000431606.2	-	3	535	c.506A>T	c.(505-507)cAg>cTg	p.Q169L	MED19_ENST00000337672.2_Missense_Mutation_p.Q169L			A0JLT2	MED19_HUMAN	mediator complex subunit 19	169						mediator complex (GO:0016592)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.Q169L(1)		cervix(1)|large_intestine(1)|lung(1)|ovary(2)	5						CTTGGGAGGCTGAATATGCAT	0.468																																																1	Substitution - Missense(1)	ovary(1)	11											112.0	116.0	115.0					11																	57472256		2201	4296	6497	57228832	SO:0001583	missense	219541			AY148462	CCDS7966.1	11q12.1	2008-02-05	2007-07-30		ENSG00000156603	ENSG00000156603			29600	protein-coding gene	gene with protein product		612385	"""mediator of RNA polymerase II transcription, subunit 19 homolog (S. cerevisiae)"""			9417904	Standard	NM_153450		Approved	LCMR1	uc001nlb.3	A0JLT2	OTTHUMG00000167199	ENST00000431606.2:c.506A>T	11.37:g.57472256T>A	ENSP00000416227:p.Gln169Leu	Unknown		x	x	x	57228832	Q8IV02|Q8IZD1	Missense_Mutation	SNP	ENST00000431606.2	37		SNP	55	Broad	.	.	.	.	.	.	.	.	.	.	T	24.1	4.490866	0.84962	.	.	ENSG00000156603	ENST00000337672;ENST00000431606	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.76758	0.4032	M	0.76574	2.34	0.80722	D	1	D;D	0.63046	0.992;0.985	D;D	0.74023	0.979;0.982	T	0.74607	-0.3609	9	0.22706	T	0.39	-24.8056	14.8792	0.70519	0.0:0.0:0.0:1.0	.	169;169	A0JLT2-2;A0JLT2	.;MED19_HUMAN	L	169	.	ENSP00000337340:Q169L	Q	-	2	0	MED19	57228832	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.384000	0.66225	1.997000	0.58415	0.459000	0.35465	CAG		0.468	MED19-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000393702.1	NM_153450		Missense_Mutation
ZFP91	80829	broad.mit.edu	37	11	58384963	58384963	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr11:58384963G>C	ENST00000316059.6	+	11	1668	c.1497G>C	c.(1495-1497)ttG>ttC	p.L499F	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.L499F	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	499					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein K63-linked ubiquitination (GO:0070534)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)	p.L499F(2)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CTGAGCCCTTGGGAAACTCAA	0.552																																																2	Substitution - Missense(2)	ovary(2)	11											85.0	78.0	80.0					11																	58384963		2201	4295	6496	58141539	SO:0001583	missense	80829			AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660		"""Zinc fingers, C2H2-type"""	14983	protein-coding gene	gene with protein product			"""zinc finger protein homologous to Zfp91 in mouse"", ""zinc finger protein 91 homolog (mouse)"""			12738986, 20682767	Standard	NM_053023		Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.1497G>C	11.37:g.58384963G>C	ENSP00000339030:p.Leu499Phe	Unknown		x	x	x	58141539	A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Missense_Mutation	SNP	ENST00000316059.6	37	CCDS31553.1	SNP	47	Broad	.	.	.	.	.	.	.	.	.	.	G	16.46	3.130908	0.56828	.	.	ENSG00000186660	ENST00000316059;ENST00000389918	T	0.13089	2.62	6.16	6.16	0.99307	.	0.000000	0.52532	D	0.000075	T	0.21921	0.0528	L	0.27053	0.805	0.38992	D	0.959161	D;D	0.69078	0.997;0.995	D;D	0.78314	0.991;0.979	T	0.02047	-1.1223	10	0.54805	T	0.06	-5.7695	8.4051	0.32610	0.0761:0.0:0.7687:0.1553	.	499;499	Q96JP5-2;Q96JP5	.;ZFP91_HUMAN	F	499	ENSP00000339030:L499F	ENSP00000374569:L499F	L	+	3	2	ZFP91	58141539	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.098000	0.41757	2.937000	0.99478	0.650000	0.86243	TTG		0.552	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268674.1	NM_053023		Missense_Mutation
PELI3	246330	broad.mit.edu	37	11	66243418	66243418	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr11:66243418G>C	ENST00000320740.7	+	8	1350	c.1190G>C	c.(1189-1191)tGg>tCg	p.W397S	PELI3_ENST00000349459.6_Missense_Mutation_p.W373S|PELI3_ENST00000531856.1_3'UTR|CTD-3074O7.5_ENST00000527092.1_RNA|CTD-3074O7.5_ENST00000525142.1_RNA|CTD-3074O7.5_ENST00000602951.1_RNA|CTD-3074O7.5_ENST00000533502.1_RNA|CTD-3074O7.5_ENST00000527274.2_RNA	NM_001243136.1|NM_145065.2	NP_001230065.1|NP_659502.2	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	397					defense response to Gram-negative bacterium (GO:0050829)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Toll signaling pathway (GO:0045751)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon production (GO:0032480)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|protein K63-linked ubiquitination (GO:0070534)|regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070428)|Toll signaling pathway (GO:0008063)	cytosol (GO:0005829)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.W397S(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						GTGCCTCTATGGCTTGGCCAG	0.687																																																1	Substitution - Missense(1)	ovary(1)	11											22.0	21.0	21.0					11																	66243418		2160	4221	6381	65999994	SO:0001583	missense	246330			AL834395	CCDS31615.1, CCDS41675.1, CCDS73328.1	11q13.2	2012-02-23	2012-02-23		ENSG00000174516	ENSG00000174516		"""Pellino homologs"""	30010	protein-coding gene	gene with protein product		609827	"""pellino homolog 3 (Drosophila)"""			12874243, 15917247	Standard	NM_145065		Approved	MGC35521	uc001oic.4	Q8N2H9	OTTHUMG00000167109	ENST00000320740.7:c.1190G>C	11.37:g.66243418G>C	ENSP00000322532:p.Trp397Ser	Unknown		x	x	x	65999994	Q8N3E1|Q8N9Q6|Q8TAW7|Q8TED5	Missense_Mutation	SNP	ENST00000320740.7	37	CCDS31615.1	SNP	47	Broad	.	.	.	.	.	.	.	.	.	.	G	11.62	1.694400	0.30052	.	.	ENSG00000174516	ENST00000349459;ENST00000320740	T;T	0.41065	1.01;1.01	5.07	4.14	0.48551	.	0.077768	0.56097	D	0.000025	T	0.51686	0.1689	L	0.52573	1.65	0.80722	D	1	D;D	0.59357	0.981;0.985	P;D	0.64410	0.878;0.925	T	0.44236	-0.9341	10	0.13853	T	0.58	-18.764	12.5209	0.56058	0.0:0.0:0.8319:0.1681	.	373;397	Q8N2H9-2;Q8N2H9	.;PELI3_HUMAN	S	373;397	ENSP00000309848:W373S;ENSP00000322532:W397S	ENSP00000322532:W397S	W	+	2	0	PELI3	65999994	1.000000	0.71417	1.000000	0.80357	0.594000	0.36715	7.654000	0.83653	1.335000	0.45486	0.655000	0.94253	TGG		0.687	PELI3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393226.1	NM_145065		Missense_Mutation
USP2	9099	broad.mit.edu	37	11	119229841	119229841	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr11:119229841C>G	ENST00000260187.2	-	6	1359	c.1065G>C	c.(1063-1065)caG>caC	p.Q355H	USP2_ENST00000525735.1_Missense_Mutation_p.Q146H|USP2_ENST00000455332.2_Missense_Mutation_p.Q112H	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	355	USP.				cell cycle (GO:0007049)|muscle organ development (GO:0007517)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue development (GO:0048643)|protein deubiquitination (GO:0016579)|protein stabilization (GO:0050821)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell cortex (GO:0005938)|centrosome (GO:0005813)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cyclin binding (GO:0030332)|cysteine-type endopeptidase activity (GO:0004197)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.Q355H(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		GAGCATCCTGCTGACTGAACC	0.537																																																1	Substitution - Missense(1)	ovary(1)	11											88.0	77.0	80.0					11																	119229841		2199	4295	6494	118735051	SO:0001583	missense	9099			AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672		"""Ubiquitin-specific peptidases"""	12618	protein-coding gene	gene with protein product		604725	"""ubiquitin specific protease 2"""			12838346	Standard	NM_004205		Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.1065G>C	11.37:g.119229841C>G	ENSP00000260187:p.Gln355His	Unknown		x	x	x	118735051	B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	Missense_Mutation	SNP	ENST00000260187.2	37	CCDS8422.1	SNP	28	Broad	.	.	.	.	.	.	.	.	.	.	C	20.7	4.041455	0.75732	.	.	ENSG00000036672	ENST00000455332;ENST00000260187;ENST00000392808;ENST00000525735	T;T;T	0.57436	0.4;0.4;0.4	5.92	5.0	0.66597	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.77184	0.4093	M	0.91818	3.245	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.991;0.999	T	0.80562	-0.1327	10	0.52906	T	0.07	-5.3465	14.2893	0.66265	0.0:0.9266:0.0:0.0734	.	112;355;146	E9PPM2;O75604;O75604-4	.;UBP2_HUMAN;.	H	112;355;102;146	ENSP00000407842:Q112H;ENSP00000260187:Q355H;ENSP00000436952:Q146H	ENSP00000260187:Q355H	Q	-	3	2	USP2	118735051	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.730000	0.47335	2.795000	0.96236	0.655000	0.94253	CAG		0.537	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388361.2	NM_171997		Missense_Mutation
ATF7IP	55729	broad.mit.edu	37	12	14577314	14577314	+	Silent	SNP	C	C	A			TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr12:14577314C>A	ENST00000540793.1	+	1	620	c.465C>A	c.(463-465)acC>acA	p.T155T	ATF7IP_ENST00000544627.1_Silent_p.T163T|ATF7IP_ENST00000536444.1_Silent_p.T155T|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000543189.1_Silent_p.T155T|ATF7IP_ENST00000261168.4_Silent_p.T155T			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	155					DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)		p.T155T(1)		cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						GTGATTCCACCTCTGGTGATC	0.577																																																1	Substitution - coding silent(1)	ovary(1)	12											66.0	64.0	65.0					12																	14577314		2203	4300	6503	14468581	SO:0001819	synonymous_variant	55729			AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.465C>A	12.37:g.14577314C>A		Unknown		x	x	x	14468581	F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Silent	SNP	ENST00000540793.1	37	CCDS8663.1	SNP	24	Broad																																																																																				0.577	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		Silent
ABCC9	10060	broad.mit.edu	37	12	22086847	22086847	+	Silent	SNP	G	G	A			TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr12:22086847G>A	ENST00000261201.4	-	2	152	c.153C>T	c.(151-153)agC>agT	p.S51S	ABCC9_ENST00000261200.4_Silent_p.S51S|ABCC9_ENST00000326684.4_Silent_p.S51S|ABCC9_ENST00000538350.1_Silent_p.S51S|ABCC9_ENST00000345162.2_Silent_p.S51S	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	51					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)	p.S51S(1)		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)	TTGAGCTTTGGCTCCCCCACC	0.373																																																1	Substitution - coding silent(1)	ovary(1)	12											145.0	127.0	133.0					12																	22086847		2203	4300	6503	21978114	SO:0001819	synonymous_variant	10060			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.153C>T	12.37:g.22086847G>A		Unknown		x	x	x	21978114	O60707	Silent	SNP	ENST00000261201.4	37	CCDS8694.1	SNP	42	Broad																																																																																				0.373	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		Silent
SLC38A1	81539	broad.mit.edu	37	12	46601010	46601010	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr12:46601010C>T	ENST00000398637.5	-	8	1185	c.491G>A	c.(490-492)aGc>aAc	p.S164N	SLC38A1_ENST00000546893.1_Missense_Mutation_p.S164N|SLC38A1_ENST00000549049.1_Missense_Mutation_p.S164N|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000439706.1_Missense_Mutation_p.S164N|SLC38A1_ENST00000552197.1_Missense_Mutation_p.S164N	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	164					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|neutral amino acid transport (GO:0015804)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neutral amino acid transmembrane transporter activity (GO:0015175)|sodium:amino acid symporter activity (GO:0005283)	p.S164N(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			GAAGAGGTAGCTCAGCATTGC	0.353																																																1	Substitution - Missense(1)	ovary(1)	12											68.0	60.0	62.0					12																	46601010		1826	4084	5910	44887277	SO:0001583	missense	81539			AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371		"""Solute carriers"""	13447	protein-coding gene	gene with protein product		608490				10891391	Standard	NM_030674		Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000398637.5:c.491G>A	12.37:g.46601010C>T	ENSP00000381634:p.Ser164Asn	Unknown		x	x	x	44887277	Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Missense_Mutation	SNP	ENST00000398637.5	37	CCDS41774.1	SNP	28	Broad	.	.	.	.	.	.	.	.	.	.	C	24.8	4.571510	0.86542	.	.	ENSG00000111371	ENST00000549049;ENST00000439706;ENST00000398637;ENST00000546893;ENST00000552197	T;T;T;T;T	0.03035	4.07;4.07;4.07;4.07;4.07	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.22003	0.0530	M	0.87547	2.89	0.49798	D	0.99982	D;D;D	0.71674	0.998;0.995;0.998	D;D;D	0.79108	0.992;0.923;0.985	T	0.00112	-1.2044	10	0.87932	D	0	-21.6858	15.1313	0.72527	0.1413:0.8587:0.0:0.0	.	164;164;164	B5MEC5;F8VX04;Q9H2H9	.;.;S38A1_HUMAN	N	164	ENSP00000449607:S164N;ENSP00000398142:S164N;ENSP00000381634:S164N;ENSP00000447853:S164N;ENSP00000449756:S164N	ENSP00000381634:S164N	S	-	2	0	SLC38A1	44887277	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.936000	0.63506	2.817000	0.96982	0.563000	0.77884	AGC		0.353	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404218.2			Missense_Mutation
ELMSAN1	91748	broad.mit.edu	37	14	74205748	74205748	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr14:74205748G>A	ENST00000286523.5	-	2	1746	c.964C>T	c.(964-966)Cgc>Tgc	p.R322C	ELMSAN1_ENST00000486739.1_5'Flank|ELMSAN1_ENST00000394071.2_Missense_Mutation_p.R322C	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	322	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R322C(1)									AGGGCCTTGCGCAGTTCTGGG	0.662																																																1	Substitution - Missense(1)	ovary(1)	14											24.0	25.0	25.0					14																	74205748		2203	4298	6501	73275501	SO:0001583	missense	91748			BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.964C>T	14.37:g.74205748G>A	ENSP00000286523:p.Arg322Cys	Unknown		x	x	x	73275501	Q6PK13|Q6PK59|Q6ZS23	Missense_Mutation	SNP	ENST00000286523.5	37	CCDS9819.1	SNP	38	Broad	.	.	.	.	.	.	.	.	.	.	G	16.05	3.014332	0.54468	.	.	ENSG00000156030	ENST00000394071;ENST00000286523;ENST00000423556;ENST00000435371	T;T;T;T	0.14893	2.47;2.47;2.47;2.47	4.78	4.78	0.61160	.	0.406531	0.23690	N	0.045521	T	0.11324	0.0276	N	0.19112	0.55	0.38337	D	0.943975	D;B	0.61697	0.99;0.024	B;B	0.43575	0.424;0.007	T	0.07868	-1.0750	10	0.38643	T	0.18	-12.9232	8.5612	0.33511	0.181:0.0:0.819:0.0	.	322;322	A0PJD3;Q6PJG2	.;CN043_HUMAN	C	322	ENSP00000377634:R322C;ENSP00000286523:R322C;ENSP00000407767:R322C;ENSP00000402380:R322C	ENSP00000286523:R322C	R	-	1	0	C14orf43	73275501	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.574000	0.53863	2.211000	0.71520	0.561000	0.74099	CGC		0.662	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		Missense_Mutation
DLK1	8788	broad.mit.edu	37	14	101200564	101200564	+	Silent	SNP	C	C	T			TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr14:101200564C>T	ENST00000341267.4	+	5	725	c.483C>T	c.(481-483)ggC>ggT	p.G161G	DLK1_ENST00000331224.6_Silent_p.G161G	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	161	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|negative regulation of Notch signaling pathway (GO:0045746)|Notch signaling pathway (GO:0007219)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.G161G(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				GCCCCCCTGGCTTCTCAGGCA	0.647																																																1	Substitution - coding silent(1)	ovary(1)	14											63.0	63.0	63.0					14																	101200564		2201	4299	6500	100270317	SO:0001819	synonymous_variant	8788			U15979	CCDS9963.1	14q32	2011-12-05	2001-12-03			ENSG00000185559			2907	protein-coding gene	gene with protein product		176290	"""delta-like homolog (Drosophila)"""			8095043, 7925474	Standard	NM_003836		Approved	FA1, pG2, Pref-1, ZOG, Delta1	uc001yhs.4	P80370		ENST00000341267.4:c.483C>T	14.37:g.101200564C>T		Unknown		x	x	x	100270317	P15803|Q96DW5	Silent	SNP	ENST00000341267.4	37	CCDS9963.1	SNP	28	Broad																																																																																				0.647	DLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414389.1			Silent
NUTM1	256646	broad.mit.edu	37	15	34648712	34648712	+	Nonsense_Mutation	SNP	G	G	T			TCGA-13-0883-01	TCGA-13-0883-10			G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Sequenom_PCR_WGA			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr15:34648712G>T	ENST00000333756.4	+	7	2574	c.2419G>T	c.(2419-2421)Gga>Tga	p.G807*	NUTM1_ENST00000537011.1_Nonsense_Mutation_p.G835*|NUTM1_ENST00000438749.3_Nonsense_Mutation_p.G825*	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	807						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.G807*(1)									CAGCTTGCCAGGACCTTTGAG	0.532																																																1	Substitution - Nonsense(1)	ovary(1)	15											50.0	53.0	52.0					15																	34648712		2201	4298	6499	32436004	SO:0001587	stop_gained	256646			AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.2419G>T	15.37:g.34648712G>T	ENSP00000329448:p.Gly807*	Somatic		x	x	x	32436004	B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Nonsense_Mutation	SNP	ENST00000333756.4	37	CCDS32190.1	SNP	35	Broad	.	.	.	.	.	.	.	.	.	.	G	40	7.948691	0.98577	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000333756	.	.	.	4.39	2.44	0.29823	.	0.751749	0.12201	N	0.490316	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	7.1695	0.25710	0.2142:0.0:0.7858:0.0	.	.	.	.	X	835;825;807	.	ENSP00000329448:G807X	G	+	1	0	C15orf55	32436004	0.014000	0.17966	0.001000	0.08648	0.137000	0.21094	1.762000	0.38451	1.037000	0.40024	0.555000	0.69702	GGA		0.532	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		Nonsense_Mutation
PLCB2	5330	broad.mit.edu	37	15	40594162	40594162	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr15:40594162C>T	ENST00000260402.3	-	7	827	c.578G>A	c.(577-579)gGc>gAc	p.G193D	PLCB2_ENST00000456256.2_Missense_Mutation_p.G193D|PLCB2-AS1_ENST00000559520.1_RNA|PLCB2_ENST00000557821.1_Missense_Mutation_p.G193D|PLCB2_ENST00000543785.2_Missense_Mutation_p.G193D	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	193					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.G193D(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		ACTCACTTTGCCTTTGGGGAG	0.582																																																1	Substitution - Missense(1)	ovary(1)	15											44.0	47.0	46.0					15																	40594162		2020	4186	6206	38381454	SO:0001583	missense	5330				CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.578G>A	15.37:g.40594162C>T	ENSP00000260402:p.Gly193Asp	Unknown		x	x	x	38381454	A8K6J2|B9EGH5	Missense_Mutation	SNP	ENST00000260402.3	37	CCDS42020.1	SNP	26	Broad	.	.	.	.	.	.	.	.	.	.	C	29.0	4.968833	0.92855	.	.	ENSG00000137841	ENST00000260402;ENST00000456256;ENST00000543785	T;T;T	0.44881	0.91;0.91;0.91	4.86	4.86	0.63082	.	0.160662	0.56097	D	0.000034	T	0.68513	0.3009	M	0.84326	2.69	0.80722	D	1	D;B;D;B	0.89917	0.981;0.061;1.0;0.032	P;B;D;B	0.75484	0.852;0.072;0.986;0.083	T	0.73372	-0.4003	10	0.72032	D	0.01	.	18.553	0.91072	0.0:1.0:0.0:0.0	.	193;193;193;193	B9EGH5;Q00722-2;Q9BVT6;Q00722	.;.;.;PLCB2_HUMAN	D	193	ENSP00000260402:G193D;ENSP00000411991:G193D;ENSP00000444652:G193D	ENSP00000260402:G193D	G	-	2	0	PLCB2	38381454	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	5.866000	0.69590	2.706000	0.92434	0.555000	0.69702	GGC		0.582	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1			Missense_Mutation
LTK	4058	broad.mit.edu	37	15	41796296	41796296	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr15:41796296C>G	ENST00000263800.6	-	20	2589	c.2493G>C	c.(2491-2493)tgG>tgC	p.W831C	LTK_ENST00000561619.1_Missense_Mutation_p.W529C|LTK_ENST00000453182.2_Missense_Mutation_p.W701C|LTK_ENST00000355166.5_Missense_Mutation_p.W770C	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	831					cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.W831C(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GGCTACCTCCCCAGCTTTTCA	0.587										TSP Lung(18;0.14)																																						1	Substitution - Missense(1)	ovary(1)	15											48.0	55.0	53.0					15																	41796296		2203	4300	6503	39583588	SO:0001583	missense	4058			D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"""leukocyte tyrosine kinase"""			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.2493G>C	15.37:g.41796296C>G	ENSP00000263800:p.Trp831Cys	Unknown		x	x	x	39583588	A6NNJ8|B4DL89|E9PFX4	Missense_Mutation	SNP	ENST00000263800.6	37	CCDS10077.1	SNP	22	Broad	.	.	.	.	.	.	.	.	.	.	C	11.41	1.629711	0.28978	.	.	ENSG00000062524	ENST00000355166;ENST00000263800;ENST00000453182	T;T;T	0.75938	-0.98;-0.76;-0.93	4.76	4.76	0.60689	.	0.286881	0.19034	U	0.124477	T	0.70046	0.3179	N	0.24115	0.695	0.47511	D	0.999441	D;D;B;B	0.63046	0.976;0.992;0.1;0.007	P;P;B;B	0.55965	0.788;0.754;0.038;0.005	T	0.67787	-0.5580	10	0.39692	T	0.17	.	9.1172	0.36764	0.0:0.9019:0.0:0.0981	.	701;701;770;831	E9PFX4;B4DL89;P29376-4;P29376	.;.;.;LTK_HUMAN	C	770;831;701	ENSP00000347293:W770C;ENSP00000263800:W831C;ENSP00000392196:W701C	ENSP00000263800:W831C	W	-	3	0	LTK	39583588	0.887000	0.30362	0.482000	0.27366	0.568000	0.35870	1.667000	0.37471	2.616000	0.88540	0.655000	0.94253	TGG		0.587	LTK-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252690.2			Missense_Mutation
ZWILCH	55055	broad.mit.edu	37	15	66816042	66816042	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr15:66816042A>G	ENST00000307897.5	+	8	1155	c.775A>G	c.(775-777)Aga>Gga	p.R259G	RPL4_ENST00000568588.1_Intron|ZWILCH_ENST00000565627.1_Missense_Mutation_p.R145G|ZWILCH_ENST00000535141.2_Missense_Mutation_p.R145G|ZWILCH_ENST00000446801.2_Missense_Mutation_p.R145G|RPL4_ENST00000564517.1_5'Flank	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	259					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)		p.R259G(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						AGGAGAGCCCAGAGGTCCTTT	0.343																																																1	Substitution - Missense(1)	ovary(1)	15											134.0	149.0	144.0					15																	66816042		2201	4299	6500	64603096	SO:0001583	missense	55055			AK023175	CCDS10219.1, CCDS73746.1	15q22.31	2013-01-17	2012-12-13		ENSG00000174442	ENSG00000174442			25468	protein-coding gene	gene with protein product		609984	"""Zwilch, kinetochore associated, homolog (Drosophila)"""			12686595	Standard	NM_017975		Approved	FLJ10036, KNTC1AP	uc002aqb.3	Q9H900	OTTHUMG00000133194	ENST00000307897.5:c.775A>G	15.37:g.66816042A>G	ENSP00000311429:p.Arg259Gly	Unknown		x	x	x	64603096	B3KVB8|Q6N049|Q8N404|Q96SY7|Q9NWG7	Missense_Mutation	SNP	ENST00000307897.5	37	CCDS10219.1	SNP	7	Broad	.	.	.	.	.	.	.	.	.	.	A	16.79	3.221655	0.58560	.	.	ENSG00000174442	ENST00000307897;ENST00000446801;ENST00000535141	T;T;T	0.51071	0.72;0.72;0.72	5.4	4.23	0.50019	.	0.046701	0.85682	D	0.000000	T	0.62636	0.2444	M	0.72894	2.215	0.46927	D	0.999251	D	0.89917	1.0	D	0.75484	0.986	T	0.65335	-0.6193	10	0.72032	D	0.01	-19.4001	7.2816	0.26314	0.7075:0.1494:0.0:0.143	.	259	Q9H900	ZWILC_HUMAN	G	259;145;145	ENSP00000311429:R259G;ENSP00000402217:R145G;ENSP00000437749:R145G	ENSP00000311429:R259G	R	+	1	2	ZWILCH	64603096	0.989000	0.36119	0.996000	0.52242	0.548000	0.35241	2.431000	0.44775	2.034000	0.60081	0.477000	0.44152	AGA		0.343	ZWILCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256904.4	NM_017975		Missense_Mutation
CASKIN1	57524	broad.mit.edu	37	16	2239081	2239081	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr16:2239081G>C	ENST00000343516.6	-	6	656	c.564C>G	c.(562-564)aaC>aaG	p.N188K		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	188					signal transduction (GO:0007165)	cytoplasm (GO:0005737)		p.N188K(1)|p.N17K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GGCTGGTGCCGTTGGGGTCGG	0.642																																																2	Substitution - Missense(2)	ovary(2)	16											67.0	75.0	72.0					16																	2239081		2071	4197	6268	2179082	SO:0001583	missense	57524			AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.564C>G	16.37:g.2239081G>C	ENSP00000345436:p.Asn188Lys	Unknown		x	x	x	2179082	Q9P2P0	Missense_Mutation	SNP	ENST00000343516.6	37	CCDS42103.1	SNP	40	Broad	.	.	.	.	.	.	.	.	.	.	G	17.45	3.393496	0.62066	.	.	ENSG00000167971	ENST00000343516;ENST00000382453	T	0.67345	-0.26	3.46	-3.54	0.04653	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.59500	0.2198	N	0.17594	0.5	0.51012	D	0.999902	D	0.55385	0.971	P	0.58331	0.837	T	0.61869	-0.6974	9	0.87932	D	0	-24.6529	9.6351	0.39802	0.5338:0.0:0.4662:0.0	.	188	Q8WXD9	CSKI1_HUMAN	K	188;17	ENSP00000345436:N188K	ENSP00000345436:N188K	N	-	3	2	CASKIN1	2179082	0.131000	0.22433	0.974000	0.42286	0.886000	0.51366	-0.473000	0.06615	-0.773000	0.04596	0.561000	0.74099	AAC		0.642	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	NM_020764		Missense_Mutation
XYLT1	64131	broad.mit.edu	37	16	17292121	17292121	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr16:17292121C>T	ENST00000261381.6	-	5	1321	c.1237G>A	c.(1237-1239)Gac>Aac	p.D413N		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	413					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)	p.D413N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CAGGGCCAGTCGGTCATCTCC	0.622																																																1	Substitution - Missense(1)	ovary(1)	16											88.0	74.0	78.0					16																	17292121		2197	4300	6497	17199622	SO:0001583	missense	64131			AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.1237G>A	16.37:g.17292121C>T	ENSP00000261381:p.Asp413Asn	Unknown		x	x	x	17199622	Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	CCDS10569.1	SNP	31	Broad	.	.	.	.	.	.	.	.	.	.	C	26.4	4.729636	0.89390	.	.	ENSG00000103489	ENST00000261381	T	0.14391	2.51	5.45	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.32406	0.0828	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.02161	-1.1203	10	0.48119	T	0.1	-38.3127	13.2832	0.60228	0.0:0.924:0.0:0.076	.	413	Q86Y38	XYLT1_HUMAN	N	413	ENSP00000261381:D413N	ENSP00000261381:D413N	D	-	1	0	XYLT1	17199622	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.731000	0.84895	1.301000	0.44836	0.655000	0.94253	GAC		0.622	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		Missense_Mutation
HYDIN	54768	broad.mit.edu	37	16	70954717	70954717	+	Missense_Mutation	SNP	G	G	A	rs375727122|rs67115747|rs74861733		TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr16:70954717G>A	ENST00000393567.2	-	46	7712	c.7562C>T	c.(7561-7563)aCg>aTg	p.T2521M		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2521					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)		p.T151L(1)|p.T2472M(1)|p.T151M(1)|p.T2472L(1)		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)				ctccttctccgtgcgctcctt	0.716																																																4	Substitution - Missense(4)	ovary(4)	16											17.0	18.0	18.0					16																	70954717		1923	4087	6010	69512218	SO:0001583	missense	54768			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.7562C>T	16.37:g.70954717G>A	ENSP00000377197:p.Thr2521Met	Unknown		x	x	x	69512218	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	SNP	40	Broad	.	.	.	.	.	.	.	.	.	.	g	9.189	1.025483	0.19512	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00892	5.57	5.72	5.72	0.89469	.	1.225580	0.06646	U	0.761960	T	0.01124	0.0037	N	0.08118	0	0.42059	D	0.99115	D	0.61080	0.989	P	0.44732	0.459	T	0.74987	-0.3476	10	0.48119	T	0.1	.	13.7377	0.62829	0.0:0.0:0.8464:0.1536	.	2520	F8WD23	.	M	2521;2520	ENSP00000377197:T2521M	ENSP00000313052:T2520M	T	-	2	0	HYDIN	69512218	0.614000	0.27017	0.146000	0.22360	0.122000	0.20287	2.890000	0.48609	2.697000	0.92050	0.609000	0.83330	ACG		0.716	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			Missense_Mutation
COL1A1	1277	broad.mit.edu	37	17	48272424	48272424	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr17:48272424C>G	ENST00000225964.5	-	20	1455	c.1337G>C	c.(1336-1338)gGt>gCt	p.G446A		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	446	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.G446A(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	TCCCTTAGCACCAGTGTCTCC	0.617			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																																Dom	yes		17	17q21.31-q22	1277	"""collagen, type I, alpha 1"""	yes	M	1	Substitution - Missense(1)	ovary(1)	17											61.0	63.0	62.0					17																	48272424		2203	4300	6503	45627423	SO:0001583	missense	1277			Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.1337G>C	17.37:g.48272424C>G	ENSP00000225964:p.Gly446Ala	Unknown		x	x	x	45627423	O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	ENST00000225964.5	37	CCDS11561.1	SNP	18	Broad	.	.	.	.	.	.	.	.	.	.	C	14.84	2.655427	0.47467	.	.	ENSG00000108821	ENST00000225964	D	0.99607	-6.27	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.99792	0.9912	H	0.96633	3.855	0.80722	D	1	D	0.71674	0.998	D	0.91635	0.999	D	0.97181	0.9851	10	0.87932	D	0	.	17.4882	0.87694	0.0:1.0:0.0:0.0	.	446	P02452	CO1A1_HUMAN	A	446	ENSP00000225964:G446A	ENSP00000225964:G446A	G	-	2	0	COL1A1	45627423	0.998000	0.40836	1.000000	0.80357	0.063000	0.16089	3.978000	0.56881	2.733000	0.93635	0.563000	0.77884	GGT		0.617	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			Missense_Mutation
INSR	3643	broad.mit.edu	37	19	7125412	7125412	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr19:7125412T>A	ENST00000302850.5	-	17	3282	c.3140A>T	c.(3139-3141)aAg>aTg	p.K1047M	INSR_ENST00000341500.5_Missense_Mutation_p.K1035M	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	1047	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.K1047M(1)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	TGCCTCACCCTTGATGATGTC	0.602																																																1	Substitution - Missense(1)	ovary(1)	19											160.0	124.0	136.0					19																	7125412		2203	4300	6503	7076412	SO:0001583	missense	3643			M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.3140A>T	19.37:g.7125412T>A	ENSP00000303830:p.Lys1047Met	Unknown		x	x	x	7076412	Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	ENST00000302850.5	37	CCDS12176.1	SNP	56	Broad	.	.	.	.	.	.	.	.	.	.	T	24.7	4.556536	0.86231	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	D;D	0.89746	-2.56;-2.56	5.06	5.06	0.68205	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.48286	D	0.000190	D	0.91912	0.7439	L	0.49699	1.58	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.70716	0.927;0.97	D	0.92583	0.6076	10	0.87932	D	0	.	12.8032	0.57598	0.0:0.0:0.0:1.0	.	1035;1047	P06213-2;P06213	.;INSR_HUMAN	M	1047;1035	ENSP00000303830:K1047M;ENSP00000342838:K1035M	ENSP00000303830:K1047M	K	-	2	0	INSR	7076412	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.804000	0.69135	2.131000	0.65755	0.533000	0.62120	AAG		0.602	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			Missense_Mutation
FBXW9	84261	broad.mit.edu	37	19	12800620	12800620	+	Silent	SNP	C	C	G			TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr19:12800620C>G	ENST00000380339.3	-	7	1227	c.1191G>C	c.(1189-1191)ctG>ctC	p.L397L	CTD-2192J16.26_ENST00000593554.1_lincRNA|FBXW9_ENST00000587955.1_Silent_p.L387L|FBXW9_ENST00000544494.1_Silent_p.L105L|FBXW9_ENST00000393261.3_Silent_p.L367L|CTD-2659N19.2_ENST00000585742.1_RNA			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	397					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)			p.C52S(1)		cervix(1)|lung(4)|ovary(1)|prostate(1)	7						AGACGTGCAGCAGGCCCTGGT	0.642																																																1	Substitution - Missense(1)	ovary(1)	19											64.0	62.0	63.0					19																	12800620		2203	4300	6503	12661620	SO:0001819	synonymous_variant	84261			BC004290	CCDS12278.2	19p13.2	2013-01-09	2007-02-08		ENSG00000132004	ENSG00000132004		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	28136	protein-coding gene	gene with protein product		609074	"""F-box and WD-40 domain protein 9"""			12477932	Standard	NM_032301		Approved	MGC10870, Fbw9	uc002mum.1	Q5XUX1	OTTHUMG00000150152	ENST00000380339.3:c.1191G>C	19.37:g.12800620C>G		Unknown		x	x	x	12661620	B3KVP7|Q9BT89	Silent	SNP	ENST00000380339.3	37		SNP	25	Broad																																																																																				0.642	FBXW9-201	KNOWN	basic	protein_coding	protein_coding		NM_032301		Silent
ZNF565	147929	broad.mit.edu	37	19	36674015	36674015	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr19:36674015C>T	ENST00000355114.5	-	5	1699	c.973G>A	c.(973-975)Ggc>Agc	p.G325S	ZNF565_ENST00000392173.2_Missense_Mutation_p.G285S|ZNF565_ENST00000304116.5_Missense_Mutation_p.G285S			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	325					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G285S(1)		large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			AAAGCCTTGCCACAGTCTTTA	0.478																																																1	Substitution - Missense(1)	ovary(1)	19											91.0	82.0	85.0					19																	36674015		2203	4300	6503	41365855	SO:0001583	missense	147929			AK094310	CCDS12491.1	19q13.12	2013-09-20			ENSG00000196357	ENSG00000196357		"""Zinc fingers, C2H2-type"", ""-"""	26726	protein-coding gene	gene with protein product		614275					Standard	NM_001042474		Approved	FLJ36991	uc002odn.3	Q8N9K5	OTTHUMG00000180508	ENST00000355114.5:c.973G>A	19.37:g.36674015C>T	ENSP00000347234:p.Gly325Ser	Unknown		x	x	x	41365855	B3KQ35|Q6NUS2	Missense_Mutation	SNP	ENST00000355114.5	37		SNP	21	Broad	.	.	.	.	.	.	.	.	.	.	c	17.02	3.281691	0.59758	.	.	ENSG00000196357	ENST00000392173;ENST00000304116;ENST00000355114	T;T;T	0.07216	3.21;3.21;3.21	4.27	4.27	0.50696	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.180579	0.27052	N	0.021174	T	0.21590	0.0520	L	0.61387	1.9	0.36509	D	0.869495	D	0.64830	0.994	P	0.58577	0.841	T	0.07751	-1.0756	10	0.72032	D	0.01	.	14.6058	0.68478	0.0:1.0:0.0:0.0	.	285	Q8N9K5	ZN565_HUMAN	S	285;285;325	ENSP00000376013:G285S;ENSP00000306869:G285S;ENSP00000347234:G325S	ENSP00000306869:G285S	G	-	1	0	ZNF565	41365855	0.994000	0.37717	0.980000	0.43619	0.023000	0.10783	4.502000	0.60400	2.385000	0.81259	0.585000	0.79938	GGC		0.478	ZNF565-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000451697.1	NM_152477		Missense_Mutation
POLD1	5424	broad.mit.edu	37	19	50921184	50921184	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr19:50921184C>G	ENST00000440232.2	+	27	3357	c.3304C>G	c.(3304-3306)Cct>Gct	p.P1102A	SPIB_ENST00000596074.1_5'Flank|SPIB_ENST00000597855.1_5'Flank|POLD1_ENST00000595904.1_Missense_Mutation_p.P1128A|SPIB_ENST00000270632.7_5'Flank|SPIB_ENST00000595883.1_5'Flank|CTD-2545M3.6_ENST00000599632.1_Intron|SPIB_ENST00000439922.2_5'Flank|POLD1_ENST00000599857.1_Missense_Mutation_p.P1102A	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	1102					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.P1102A(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CTTCGGACCCCCTGGACCTGA	0.607								DNA polymerases (catalytic subunits)																																								1	Substitution - Missense(1)	ovary(1)	19											28.0	30.0	29.0					19																	50921184		2198	4300	6498	55612996	SO:0001583	missense	5424				CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.3304C>G	19.37:g.50921184C>G	ENSP00000406046:p.Pro1102Ala	Unknown		x	x	x	55612996	Q8NER3|Q96H98	Missense_Mutation	SNP	ENST00000440232.2	37	CCDS12795.1	SNP	22	Broad	.	.	.	.	.	.	.	.	.	.	c	15.60	2.882888	0.51908	.	.	ENSG00000062822	ENST00000440232	T	0.03663	3.85	3.87	3.87	0.44632	.	0.000000	0.42964	U	0.000626	T	0.10895	0.0266	L	0.38175	1.15	0.44995	D	0.998012	D;D	0.89917	1.0;0.999	D;D	0.78314	0.991;0.979	T	0.13495	-1.0507	10	0.46703	T	0.11	-16.3499	15.0386	0.71770	0.0:1.0:0.0:0.0	.	1128;1102	E7EVW0;P28340	.;DPOD1_HUMAN	A	1102	ENSP00000406046:P1102A	ENSP00000406046:P1102A	P	+	1	0	POLD1	55612996	0.064000	0.20934	0.103000	0.21229	0.311000	0.27955	1.980000	0.40618	1.913000	0.55393	0.444000	0.29173	CCT		0.607	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			Missense_Mutation
BIRC6	57448	broad.mit.edu	37	2	32617172	32617172	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0883-01	TCGA-13-0883-10			G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Sequenom_PCR_WGA			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr2:32617172G>C	ENST00000421745.2	+	5	1039	c.905G>C	c.(904-906)aGg>aCg	p.R302T		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	302					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.R274T(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GTAGGCTATAGGTGGGCACAA	0.383																																					Pancreas(94;175 1509 16028 18060 45422)											1	Substitution - Missense(1)	ovary(1)	2											60.0	56.0	57.0					2																	32617172		2203	4299	6502	32470676	SO:0001583	missense	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.905G>C	2.37:g.32617172G>C	ENSP00000393596:p.Arg302Thr	Somatic		x	x	x	32470676	Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	SNP	35	Broad	.	.	.	.	.	.	.	.	.	.	G	16.99	3.273060	0.59649	.	.	ENSG00000115760	ENST00000421745	T	0.72051	-0.62	5.79	5.79	0.91817	Baculoviral inhibition of apoptosis protein repeat (4);	0.161699	0.53938	D	0.000056	T	0.62258	0.2413	N	0.25201	0.72	0.45087	D	0.998104	B	0.30542	0.284	B	0.39299	0.296	T	0.64313	-0.6437	10	0.72032	D	0.01	.	10.4276	0.44387	0.1444:0.0:0.8556:0.0	.	302	Q9NR09	BIRC6_HUMAN	T	302	ENSP00000393596:R302T	ENSP00000393596:R302T	R	+	2	0	BIRC6	32470676	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.682000	0.74528	2.718000	0.92993	0.655000	0.94253	AGG		0.383	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		Missense_Mutation
USP34	9736	broad.mit.edu	37	2	61607472	61607472	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr2:61607472C>G	ENST00000398571.2	-	7	922	c.846G>C	c.(844-846)caG>caC	p.Q282H		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	282					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.Q282H(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GTCGTAACTCCTGATCCGAGA	0.358																																																1	Substitution - Missense(1)	ovary(1)	2											101.0	87.0	92.0					2																	61607472		1883	4114	5997	61460976	SO:0001583	missense	9736			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.846G>C	2.37:g.61607472C>G	ENSP00000381577:p.Gln282His	Unknown		x	x	x	61460976	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	CCDS42686.1	SNP	24	Broad	.	.	.	.	.	.	.	.	.	.	C	14.52	2.561292	0.45590	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.03745	3.82	5.2	2.44	0.29823	.	0.167755	0.53938	D	0.000042	T	0.09730	0.0239	L	0.39898	1.24	0.51767	D	0.999935	D	0.57571	0.98	D	0.66979	0.948	T	0.01839	-1.1263	10	0.72032	D	0.01	.	10.5292	0.44967	0.0:0.7899:0.0:0.2101	.	282	Q70CQ2	UBP34_HUMAN	H	130;130;282	ENSP00000381577:Q282H	ENSP00000263989:Q130H	Q	-	3	2	USP34	61460976	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	1.608000	0.36847	0.310000	0.22990	0.557000	0.71058	CAG		0.358	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			Missense_Mutation
SPRED2	200734	broad.mit.edu	37	2	65572001	65572001	+	Missense_Mutation	SNP	A	A	T			TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr2:65572001A>T	ENST00000356388.4	-	2	245	c.56T>A	c.(55-57)gTg>gAg	p.V19E	SPRED2_ENST00000474228.1_5'UTR|SPRED2_ENST00000443619.2_Missense_Mutation_p.V16E	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	19	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)	p.V19E(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						GGTCATAACCACAGCCTTGAC	0.522																																																1	Substitution - Missense(1)	ovary(1)	2											76.0	61.0	66.0					2																	65572001		2203	4300	6503	65425505	SO:0001583	missense	200734			AF052178	CCDS33211.1, CCDS46308.1	2p14	2003-06-02			ENSG00000198369	ENSG00000198369			17722	protein-coding gene	gene with protein product		609292					Standard	NM_181784		Approved	Spred-2, FLJ21897, FLJ31917	uc002sdr.4	Q7Z698	OTTHUMG00000152737	ENST00000356388.4:c.56T>A	2.37:g.65572001A>T	ENSP00000348753:p.Val19Glu	Unknown		x	x	x	65425505	A1L3V4|B7Z5K7|D6W5F7|E9PEP0|Q2NKX6	Missense_Mutation	SNP	ENST00000356388.4	37	CCDS33211.1	SNP	6	Broad	.	.	.	.	.	.	.	.	.	.	A	27.8	4.865079	0.91511	.	.	ENSG00000198369	ENST00000356388;ENST00000443619;ENST00000452315;ENST00000440972	D;D;D;D	0.98419	-4.92;-4.92;-4.92;-4.92	4.98	4.98	0.66077	EVH1 (2);Pleckstrin homology-type (1);	0.060001	0.64402	D	0.000004	D	0.98871	0.9618	M	0.83852	2.665	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.85130	0.997;0.989	D	0.99802	1.1036	10	0.72032	D	0.01	-16.7306	14.6627	0.68885	1.0:0.0:0.0:0.0	.	16;19	E9PEP0;Q7Z698	.;SPRE2_HUMAN	E	19;16;34;19	ENSP00000348753:V19E;ENSP00000393697:V16E;ENSP00000390595:V34E;ENSP00000406481:V19E	ENSP00000348753:V19E	V	-	2	0	SPRED2	65425505	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.339000	0.96797	1.849000	0.53698	0.254000	0.18369	GTG		0.522	SPRED2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327632.1			Missense_Mutation
ELMOD3	84173	broad.mit.edu	37	2	85598611	85598611	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr2:85598611T>A	ENST00000409890.2	+	10	1200	c.533T>A	c.(532-534)aTc>aAc	p.I178N	RN7SL113P_ENST00000497900.2_RNA|ELMOD3_ENST00000409013.3_Missense_Mutation_p.I178N|ELMOD3_ENST00000428955.2_Missense_Mutation_p.I178N|RNU7-162P_ENST00000516669.1_RNA|ELMOD3_ENST00000315658.7_Missense_Mutation_p.I178N|ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000409344.3_Missense_Mutation_p.I178N|ELMOD3_ENST00000393852.4_Missense_Mutation_p.I178N			Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	178	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				phagocytosis (GO:0006909)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.I178N(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						CTCCAGACCATCTATAAGAAG	0.562																																																1	Substitution - Missense(1)	ovary(1)	2											93.0	91.0	92.0					2																	85598611		2203	4300	6503	85452122	SO:0001583	missense	84173			AF258573	CCDS1973.1, CCDS46352.1	2p11.2	2014-01-28	2008-08-14	2008-08-14	ENSG00000115459	ENSG00000115459		"""RNA binding motif (RRM) containing"""	26158	protein-coding gene	gene with protein product		615427	"""RNA binding motif protein 29"", ""RNA binding motif and ELMO/CED-12 domain 1"", ""deafness, autosomal recessive 88"""	RBM29, RBED1, DFNB88		24039609	Standard	NM_032213		Approved	FLJ21977	uc010ysn.2	Q96FG2	OTTHUMG00000130170	ENST00000409890.2:c.533T>A	2.37:g.85598611T>A	ENSP00000386304:p.Ile178Asn	Unknown		x	x	x	85452122	B8ZZD6|D6W5K4|Q2M1K3|Q2XSU3|Q2XSU4|Q8NAC1|Q8TCK4|Q8WV70|Q8WY75|Q9H6Q8	Missense_Mutation	SNP	ENST00000409890.2	37	CCDS46352.1	SNP	50	Broad	.	.	.	.	.	.	.	.	.	.	T	29.4	5.005123	0.93287	.	.	ENSG00000115459	ENST00000409331;ENST00000409013;ENST00000409890;ENST00000409344;ENST00000393852;ENST00000428955;ENST00000315658	T;T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37;1.37	6.17	6.17	0.99709	Engulfment/cell motility, ELMO (2);	0.210963	0.46442	D	0.000291	T	0.63082	0.2481	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.67522	-0.5649	10	0.87932	D	0	-29.3231	14.7743	0.69713	0.0:0.0:0.0:1.0	.	178;178	Q96FG2-6;Q96FG2	.;ELMD3_HUMAN	N	178	ENSP00000386257:I178N;ENSP00000387139:I178N;ENSP00000386304:I178N;ENSP00000386248:I178N;ENSP00000377434:I178N;ENSP00000412692:I178N;ENSP00000318264:I178N	ENSP00000318264:I178N	I	+	2	0	ELMOD3	85452122	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.246000	0.78247	2.371000	0.80710	0.533000	0.62120	ATC		0.562	ELMOD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329124.1	NM_032213		Missense_Mutation
POTEF	728378	broad.mit.edu	37	2	130877789	130877789	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr2:130877789C>A	ENST00000409914.2	-	3	699	c.300G>T	c.(298-300)aaG>aaT	p.K100N	POTEF_ENST00000360967.5_Missense_Mutation_p.K100N|POTEF_ENST00000361163.4_Missense_Mutation_p.K100N|POTEF_ENST00000357462.5_Missense_Mutation_p.K100N	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	100					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.K100N(2)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GGCAGCACCACTTGCCCATCT	0.607																																																2	Substitution - Missense(2)	ovary(2)	2											97.0	122.0	113.0					2																	130877789		2203	4296	6499	130594259	SO:0001583	missense	728378			EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.300G>T	2.37:g.130877789C>A	ENSP00000386786:p.Lys100Asn	Unknown		x	x	x	130594259	A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	CCDS46409.1	SNP	20	Broad	.	.	.	.	.	.	.	.	.	.	.	11.21	1.570465	0.28003	.	.	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	T;T;T;T	0.79845	-1.31;-1.31;1.5;1.53	0.562	0.562	0.17290	.	.	.	.	.	T	0.68146	0.2969	L	0.58101	1.795	0.09310	N	1	P	0.47604	0.898	B	0.28638	0.092	T	0.61744	-0.7000	8	0.87932	D	0	.	.	.	.	.	100	A5A3E0	POTEF_HUMAN	N	100	ENSP00000350052:K100N;ENSP00000386786:K100N;ENSP00000354232:K100N;ENSP00000355012:K100N	ENSP00000350052:K100N	K	-	3	2	POTEF	130594259	0.005000	0.15991	0.070000	0.20053	0.096000	0.18686	1.626000	0.37039	0.588000	0.29660	0.074000	0.15403	AAG		0.607	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		Missense_Mutation
TTN	7273	broad.mit.edu	37	2	179622389	179622389	+	Intron	SNP	C	C	A	rs375297413		TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr2:179622389C>A	ENST00000591111.1	-	44	10528				TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G3520C|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000360870.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Missense_Mutation_p.G3474C			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAAGCCATGCCTGTGGACTCC	0.458																																																0			2											100.0	101.0	101.0					2																	179622389		1943	4155	6098	179330634	SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10303+1321G>T	2.37:g.179622389C>A		Unknown		x	x	x	179330634	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		SNP	24	Broad	.	.	.	.	.	.	.	.	.	.	C	12.06	1.825693	0.32237	.	.	ENSG00000155657	ENST00000359218	T	0.69040	-0.37	6.16	6.16	0.99307	.	.	.	.	.	T	0.61702	0.2368	.	.	.	0.24696	N	0.993287	B	0.22003	0.063	B	0.25759	0.063	T	0.57189	-0.7854	8	0.87932	D	0	.	13.9788	0.64291	0.0:0.9314:0.0:0.0686	.	3474	E7EQE6	.	C	3474	ENSP00000352154:G3474C	ENSP00000352154:G3474C	G	-	1	0	TTN	179330634	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.603000	0.54074	2.937000	0.99478	0.650000	0.86243	GGC		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		Missense_Mutation
PAX3	5077	broad.mit.edu	37	2	223084942	223084942	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr2:223084942A>C	ENST00000350526.4	-	7	1226	c.1090T>G	c.(1090-1092)Tcc>Gcc	p.S364A	PAX3_ENST00000464706.1_5'UTR|PAX3_ENST00000344493.4_Missense_Mutation_p.S364A|PAX3_ENST00000409551.3_Missense_Mutation_p.S363A|PAX3_ENST00000336840.6_Missense_Mutation_p.S364A|PAX3_ENST00000392070.2_Missense_Mutation_p.S364A|PAX3_ENST00000392069.2_Missense_Mutation_p.S364A	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	364					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S364A(1)	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTATAGCTGGAAAATCCATGC	0.572			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																																Dom	yes		2	2q35	5077	paired box gene 3	yes	M	1	Substitution - Missense(1)	ovary(1)	2											190.0	163.0	172.0					2																	223084942		2203	4300	6503	222793186	SO:0001583	missense	5077				CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"""Paired boxes"", ""Homeoboxes / PRD class"""	8617	protein-coding gene	gene with protein product		606597	"""Waardenburg syndrome 1"", ""paired box gene 3 (Waardenburg syndrome 1)"""	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.1090T>G	2.37:g.223084942A>C	ENSP00000343052:p.Ser364Ala	Unknown		x	x	x	222793186	G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	ENST00000350526.4	37	CCDS42826.1	SNP	9	Broad	.	.	.	.	.	.	.	.	.	.	A	20.2	3.941749	0.73557	.	.	ENSG00000135903	ENST00000392069;ENST00000344493;ENST00000350526;ENST00000392070;ENST00000336840;ENST00000409551;ENST00000464706;ENST00000555548	D;D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8;-1.8	5.68	4.53	0.55603	.	0.108239	0.64402	D	0.000003	D	0.85336	0.5673	L	0.51422	1.61	0.80722	D	1	D;P;P;P;P	0.55385	0.971;0.64;0.717;0.918;0.802	P;B;B;P;B	0.59288	0.855;0.386;0.352;0.607;0.389	T	0.82876	-0.0240	10	0.33141	T	0.24	.	11.556	0.50748	0.9302:0.0:0.0698:0.0	.	364;363;364;364;364	P23760;Q494Z4;P23760-4;P23760-5;G5E9C1	PAX3_HUMAN;.;.;.;.	A	364;364;364;364;364;363;81;81	ENSP00000375921:S364A;ENSP00000342092:S364A;ENSP00000343052:S364A;ENSP00000375922:S364A;ENSP00000338767:S364A;ENSP00000386750:S363A	ENSP00000338767:S364A	S	-	1	0	PAX3	222793186	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	0.989000	0.38761	0.528000	0.53228	TCC		0.572	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1			Missense_Mutation
CEP250	11190	broad.mit.edu	37	20	34085800	34085800	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr20:34085800T>C	ENST00000397527.1	+	26	4279	c.3559T>C	c.(3559-3561)Tct>Cct	p.S1187P	CEP250_ENST00000342580.4_Missense_Mutation_p.S1131P	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1187	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.S1187P(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CAGCCTCTACTCTGCCCTGCA	0.677																																																1	Substitution - Missense(1)	ovary(1)	20											16.0	19.0	18.0					20																	34085800		2201	4300	6501	33549214	SO:0001583	missense	11190			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.3559T>C	20.37:g.34085800T>C	ENSP00000380661:p.Ser1187Pro	Unknown		x	x	x	33549214	E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	CCDS13255.1	SNP	54	Broad	.	.	.	.	.	.	.	.	.	.	T	18.36	3.606532	0.66445	.	.	ENSG00000126001	ENST00000397527;ENST00000342580	T;T	0.14893	2.52;2.47	5.22	4.08	0.47627	.	0.264500	0.27797	N	0.017814	T	0.28632	0.0709	M	0.70595	2.14	0.09310	N	1	P	0.47604	0.898	P	0.50791	0.65	T	0.07578	-1.0765	10	0.45353	T	0.12	.	10.4838	0.44708	0.0:0.0:0.1631:0.8369	.	1187	Q9BV73	CP250_HUMAN	P	1187;1131	ENSP00000380661:S1187P;ENSP00000341541:S1131P	ENSP00000341541:S1131P	S	+	1	0	CEP250	33549214	0.001000	0.12720	0.543000	0.28128	0.985000	0.73830	0.316000	0.19469	0.780000	0.33566	0.374000	0.22700	TCT		0.677	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		Missense_Mutation
KCNG1	3755	broad.mit.edu	37	20	49626624	49626624	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr20:49626624G>T	ENST00000371571.4	-	2	537	c.252C>A	c.(250-252)ttC>ttA	p.F84L	KCNG1_ENST00000506387.1_5'Flank|KCNG1_ENST00000396017.3_Missense_Mutation_p.F84L|RP5-955M13.4_ENST00000424566.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	84					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)	p.F84L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GCGTCAGCGGGAACTCGTCCA	0.632																																																1	Substitution - Missense(1)	ovary(1)	20											70.0	60.0	64.0					20																	49626624		2203	4300	6503	49060031	SO:0001583	missense	3755			AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.252C>A	20.37:g.49626624G>T	ENSP00000360626:p.Phe84Leu	Unknown		x	x	x	49060031	A8K3S4|O43528|Q5JXL5|Q9BRC1	Missense_Mutation	SNP	ENST00000371571.4	37	CCDS13436.1	SNP	41	Broad	.	.	.	.	.	.	.	.	.	.	G	12.14	1.848516	0.32699	.	.	ENSG00000026559	ENST00000371571;ENST00000396017;ENST00000439216;ENST00000424171;ENST00000433903	T;T;T;T;T	0.77098	0.95;0.95;0.95;0.95;-1.07	5.63	4.69	0.59074	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.85057	0.5610	M	0.73430	2.235	0.58432	D	0.999995	D;D	0.65815	0.995;0.995	P;D	0.63957	0.892;0.92	D	0.85271	0.1056	9	.	.	.	.	11.0179	0.47701	0.1426:0.0:0.8574:0.0	.	84;84	Q9UIX4-2;Q9UIX4	.;KCNG1_HUMAN	L	84	ENSP00000360626:F84L;ENSP00000379338:F84L;ENSP00000394075:F84L;ENSP00000394093:F84L;ENSP00000408116:F84L	.	F	-	3	2	KCNG1	49060031	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.650000	0.61440	1.524000	0.49035	-0.258000	0.10820	TTC		0.632	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079726.4	NM_002237		Missense_Mutation
MST1R	4486	broad.mit.edu	37	3	49933181	49933181	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0883-01	TCGA-13-0883-10			C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Sequenom_PCR_WGA			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr3:49933181C>A	ENST00000296474.3	-	12	2956	c.2929G>T	c.(2929-2931)Gtc>Ttc	p.V977F	MST1R_ENST00000344206.4_Missense_Mutation_p.V928F	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	977					cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)	p.V977F(1)		cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TAGCTGAAGACCAGTGCAGTC	0.582																																																1	Substitution - Missense(1)	ovary(1)	3											42.0	47.0	45.0					3																	49933181		2203	4300	6503	49908185	SO:0001583	missense	4486			X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.2929G>T	3.37:g.49933181C>A	ENSP00000296474:p.Val977Phe	Somatic		x	x	x	49908185	B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	ENST00000296474.3	37	CCDS2807.1	SNP	18	Broad	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.22|13.22	2.171530|2.171530	0.38315|0.38315	.|.	.|.	ENSG00000164078|ENSG00000164078	ENST00000296474;ENST00000344206|ENST00000434765	T;T|.	0.76060|.	-0.99;-0.97|.	5.43|5.43	-10.9|-10.9	0.00192|0.00192	.|.	0.697227|.	0.15188|.	N|.	0.275701|.	T|T	0.24890|0.24890	0.0604|0.0604	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	1|1	B|.	0.10296|.	0.003|.	B|.	0.06405|.	0.002|.	T|T	0.15492|0.15492	-1.0435|-1.0435	10|5	0.02654|.	T|.	1|.	-1.9285|-1.9285	0.5266|0.5266	0.00621|0.00621	0.2251:0.2025:0.2778:0.2945|0.2251:0.2025:0.2778:0.2945	.|.	977|.	Q04912|.	RON_HUMAN|.	F|C	977;928|23	ENSP00000296474:V977F;ENSP00000341325:V928F|.	ENSP00000296474:V977F|.	V|W	-|-	1|3	0|0	MST1R|MST1R	49908185|49908185	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.110000|0.110000	0.19582|0.19582	-0.885000|-0.885000	0.04161|0.04161	-2.356000|-2.356000	0.00613|0.00613	-0.479000|-0.479000	0.04858|0.04858	GTC|TGG		0.582	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			Missense_Mutation
NISCH	11188	broad.mit.edu	37	3	52524801	52524801	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr3:52524801C>A	ENST00000479054.1	+	20	3766	c.3694C>A	c.(3694-3696)Ctg>Atg	p.L1232M	NISCH_ENST00000345716.4_Missense_Mutation_p.L1232M			Q9Y2I1	NISCH_HUMAN	nischarin	1232					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)	p.L1232M(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	GCTTAGTGACCTGCAGTCAGT	0.517																																																1	Substitution - Missense(1)	ovary(1)	3											171.0	161.0	164.0					3																	52524801		2203	4300	6503	52499841	SO:0001583	missense	11188			AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.3694C>A	3.37:g.52524801C>A	ENSP00000418232:p.Leu1232Met	Unknown		x	x	x	52499841	C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	37	CCDS33767.1	SNP	24	Broad	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001338	0.54254	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000433196;ENST00000414197	T;T	0.20881	2.04;2.04	5.42	2.48	0.30137	.	0.000000	0.64402	D	0.000003	T	0.30039	0.0752	L	0.34521	1.04	0.41107	D	0.985712	D	0.71674	0.998	D	0.83275	0.996	T	0.03662	-1.1015	10	0.87932	D	0	-13.8549	7.309	0.26463	0.0:0.704:0.0:0.296	.	1232	Q9Y2I1	NISCH_HUMAN	M	1232;1232;156;576	ENSP00000418232:L1232M;ENSP00000339958:L1232M	ENSP00000339958:L1232M	L	+	1	2	NISCH	52499841	1.000000	0.71417	1.000000	0.80357	0.527000	0.34593	1.454000	0.35178	0.577000	0.29470	0.462000	0.41574	CTG		0.517	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		Missense_Mutation
COL6A6	131873	broad.mit.edu	37	3	130368274	130368274	+	Silent	SNP	C	C	T			TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr3:130368274C>T	ENST00000358511.6	+	32	5632	c.5601C>T	c.(5599-5601)gcC>gcT	p.A1867A	COL6A6_ENST00000453409.2_Silent_p.A1867A	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1867	Nonhelical region.|VWFA 8. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.A1867A(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GAAAAATCGCCACATTTTTCA	0.552																																																1	Substitution - coding silent(1)	ovary(1)	3											26.0	27.0	27.0					3																	130368274		2029	4163	6192	131850964	SO:0001819	synonymous_variant	131873			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.5601C>T	3.37:g.130368274C>T		Unknown		x	x	x	131850964	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	ENST00000358511.6	37	CCDS46911.1	SNP	21	Broad																																																																																				0.552	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		Silent
CABS1	85438	broad.mit.edu	37	4	71201072	71201072	+	Missense_Mutation	SNP	A	A	G	rs551306523		TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr4:71201072A>G	ENST00000273936.5	+	1	390	c.316A>G	c.(316-318)Ata>Gta	p.I106V		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	106					spermatogenesis (GO:0007283)	mitochondrial inner membrane (GO:0005743)|motile cilium (GO:0031514)	calcium ion binding (GO:0005509)	p.I106V(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TACAAACTCCATAACAAGAGA	0.363													A|||	1	0.000199681	0.0008	0.0	5008	,	,		20064	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	ovary(1)	4											51.0	50.0	50.0					4																	71201072		2203	4299	6502	71235661	SO:0001583	missense	85438			AF380838	CCDS3539.1	4q13.3	2013-10-11	2011-01-25	2011-01-25	ENSG00000145309	ENSG00000145309			30710	protein-coding gene	gene with protein product	"""casein-like phosphoprotein"""		"""chromosome 4 open reading frame 35"""	C4orf35		19208547, 19271754	Standard	NM_033122		Approved	NYD-SP26, FLJ32897, CLPH	uc003hff.3	Q96KC9	OTTHUMG00000129405	ENST00000273936.5:c.316A>G	4.37:g.71201072A>G	ENSP00000273936:p.Ile106Val	Unknown		x	x	x	71235661	B2RCB5|Q86UE0|Q96M17	Missense_Mutation	SNP	ENST00000273936.5	37	CCDS3539.1	SNP	8	Broad	.	.	.	.	.	.	.	.	.	.	A	0.016	-1.538242	0.00942	.	.	ENSG00000145309	ENST00000273936	T	0.21543	2.0	4.91	0.96	0.19631	.	0.993860	0.08159	N	0.988783	T	0.10121	0.0248	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.39272	-0.9622	10	0.08381	T	0.77	-36.1861	2.9365	0.05816	0.6212:0.0:0.1966:0.1822	.	106	Q96KC9	CABS1_HUMAN	V	106	ENSP00000273936:I106V	ENSP00000273936:I106V	I	+	1	0	CABS1	71235661	0.000000	0.05858	0.006000	0.13384	0.087000	0.18053	0.250000	0.18235	0.462000	0.27095	0.528000	0.53228	ATA		0.363	CABS1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251561.3	NM_033122		Missense_Mutation
MAP9	79884	broad.mit.edu	37	4	156281397	156281397	+	Missense_Mutation	SNP	C	C	A	rs373132442		TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr4:156281397C>A	ENST00000311277.4	-	7	1236	c.973G>T	c.(973-975)Gat>Tat	p.D325Y	MAP9_ENST00000515654.1_Missense_Mutation_p.D301Y|AC097467.2_ENST00000608544.1_RNA|AC097467.2_ENST00000600928.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000608762.1_RNA|AC097467.2_ENST00000597831.1_RNA|AC097467.2_ENST00000609716.1_RNA|AC097467.2_ENST00000609254.1_RNA|AC097467.2_ENST00000596754.1_RNA|AC097467.2_ENST00000608406.1_RNA|AC097467.2_ENST00000598890.1_RNA|AC097467.2_ENST00000417474.1_RNA|AC097467.2_ENST00000596165.1_RNA|AC097467.2_ENST00000594492.1_RNA|AC097467.2_ENST00000594666.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	325					cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)		p.D325Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		GTTCTGTCATCATCCATAATC	0.378																																																1	Substitution - Missense(1)	ovary(1)	4											158.0	144.0	149.0					4																	156281397		2203	4300	6503	156500847	SO:0001583	missense	79884			AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"""aster-associated protein"""	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.973G>T	4.37:g.156281397C>A	ENSP00000310593:p.Asp325Tyr	Unknown		x	x	x	156500847	Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Missense_Mutation	SNP	ENST00000311277.4	37	CCDS35493.1	SNP	29	Broad	.	.	.	.	.	.	.	.	.	.	C	16.26	3.071795	0.55646	.	.	ENSG00000164114	ENST00000311277;ENST00000515654;ENST00000433024;ENST00000393836	T;T;T	0.34275	2.1;2.08;1.37	5.15	4.29	0.51040	.	0.465598	0.21348	N	0.076010	T	0.42966	0.1226	M	0.63428	1.95	0.23113	N	0.998277	P;B;P	0.35656	0.514;0.384;0.514	P;P;P	0.45377	0.452;0.478;0.452	T	0.38112	-0.9676	10	0.56958	D	0.05	-4.7399	8.9212	0.35612	0.0:0.8999:0.0:0.1001	.	300;325;325	B4DVG9;B9EJB6;Q49MG5	.;.;MAP9_HUMAN	Y	325;301;324;325	ENSP00000310593:D325Y;ENSP00000427402:D301Y;ENSP00000394048:D324Y	ENSP00000310593:D325Y	D	-	1	0	MAP9	156500847	0.013000	0.17824	0.005000	0.12908	0.008000	0.06430	2.158000	0.42329	2.559000	0.86315	0.591000	0.81541	GAT		0.378	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257771.3	NM_001039580		Missense_Mutation
MYO10	4651	broad.mit.edu	37	5	16701433	16701433	+	Missense_Mutation	SNP	C	C	T	rs376986603		TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr5:16701433C>T	ENST00000513610.1	-	25	3525	c.3071G>A	c.(3070-3072)cGg>cAg	p.R1024Q	MYO10_ENST00000427430.2_Missense_Mutation_p.R381Q|MYO10_ENST00000512061.1_5'Flank|MYO10_ENST00000274203.9_Missense_Mutation_p.R381Q|MYO10_ENST00000505695.1_Missense_Mutation_p.R363Q|MYO10_ENST00000515803.1_Missense_Mutation_p.R363Q	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1024					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)	p.R1024Q(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						ATCGCTGGTCCGGATGCCACT	0.637																																																1	Substitution - Missense(1)	ovary(1)	5						C	GLN/ARG	0,4348		0,0,2174	49.0	55.0	53.0		3071	4.7	1.0	5		53	1,8515		0,1,4257	no	missense	MYO10	NM_012334.2	43	0,1,6431	TT,TC,CC		0.0117,0.0,0.0078	probably-damaging	1024/2059	16701433	1,12863	2174	4258	6432	16754433	SO:0001583	missense	4651			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.3071G>A	5.37:g.16701433C>T	ENSP00000421280:p.Arg1024Gln	Unknown		x	x	x	16754433	A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	CCDS54834.1	SNP	23	Broad	.	.	.	.	.	.	.	.	.	.	C	16.79	3.220007	0.58560	0.0	1.17E-4	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	D;D;D;D;D	0.87729	-2.22;-2.29;-2.21;-2.29;-2.21	4.74	4.74	0.60224	.	.	.	.	.	D	0.86393	0.5922	L	0.27053	0.805	0.58432	D	0.999995	D;B	0.71674	0.998;0.342	P;B	0.58520	0.84;0.018	T	0.82860	-0.0248	9	0.11794	T	0.64	.	17.744	0.88414	0.0:1.0:0.0:0.0	.	665;1024	Q69YP8;Q9HD67	.;MYO10_HUMAN	Q	1024;363;381;363;381	ENSP00000421280:R1024Q;ENSP00000425051:R363Q;ENSP00000274203:R381Q;ENSP00000421170:R363Q;ENSP00000391106:R381Q	ENSP00000274203:R381Q	R	-	2	0	MYO10	16754433	1.000000	0.71417	0.998000	0.56505	0.831000	0.47069	4.774000	0.62339	2.180000	0.69256	0.462000	0.41574	CGG		0.637	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		Missense_Mutation
CMYA5	202333	broad.mit.edu	37	5	79033853	79033853	+	Nonsense_Mutation	SNP	G	G	T			TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr5:79033853G>T	ENST00000446378.2	+	2	9296	c.9265G>T	c.(9265-9267)Gaa>Taa	p.E3089*		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3089				PQKLNVEEKLSKEVTEETISFPVSSVESALEHEYDLVKLDE -> SFKTIPLPDDSETVACHKTLKSRLEDEKVTPLKENKQK ETQ (in Ref. 3; AAH62664). {ECO:0000305}.	negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.E3089*(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGTTACAGAAGAAACTATCTC	0.358																																																1	Substitution - Nonsense(1)	ovary(1)	5											42.0	41.0	41.0					5																	79033853		1822	4071	5893	79069609	SO:0001587	stop_gained	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.9265G>T	5.37:g.79033853G>T	ENSP00000394770:p.Glu3089*	Unknown		x	x	x	79069609	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Nonsense_Mutation	SNP	ENST00000446378.2	37	CCDS47238.1	SNP	33	Broad	.	.	.	.	.	.	.	.	.	.	G	48	14.724943	0.99807	.	.	ENSG00000164309	ENST00000446378	.	.	.	5.61	3.77	0.43336	.	0.497898	0.18597	N	0.136572	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	10.3469	0.43911	0.071:0.2535:0.6755:0.0	.	.	.	.	X	3089	.	ENSP00000394770:E3089X	E	+	1	0	CMYA5	79069609	0.954000	0.32549	0.003000	0.11579	0.021000	0.10359	3.024000	0.49674	0.671000	0.31185	0.655000	0.94253	GAA		0.358	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		Nonsense_Mutation
LNPEP	4012	broad.mit.edu	37	5	96314940	96314940	+	Nonsense_Mutation	SNP	G	G	T			TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr5:96314940G>T	ENST00000231368.5	+	2	810	c.118G>T	c.(118-120)Gag>Tag	p.E40*	LNPEP_ENST00000395770.3_Nonsense_Mutation_p.E26*	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	40					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E40*(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		ACATCCTCTAGAGCCTGATGA	0.502																																																1	Substitution - Nonsense(1)	ovary(1)	5											82.0	90.0	87.0					5																	96314940		2203	4300	6503	96340696	SO:0001587	stop_gained	4012			D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"""cystinyl aminopeptidase"", ""placental leucine aminopeptidase"""	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.118G>T	5.37:g.96314940G>T	ENSP00000231368:p.Glu40*	Unknown		x	x	x	96340696	O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Nonsense_Mutation	SNP	ENST00000231368.5	37	CCDS4087.1	SNP	33	Broad	.	.	.	.	.	.	.	.	.	.	G	40	7.988245	0.98596	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	.	.	.	5.96	5.96	0.96718	.	0.049490	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.989	0.97359	0.0:0.0:1.0:0.0	.	.	.	.	X	40;26	.	ENSP00000231368:E40X	E	+	1	0	LNPEP	96340696	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.830000	0.97506	0.585000	0.79938	GAG		0.502	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	NM_005575		Nonsense_Mutation
CUL7	9820	broad.mit.edu	37	6	43017367	43017367	+	Missense_Mutation	SNP	C	C	T	rs201348693		TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr6:43017367C>T	ENST00000265348.3	-	7	1688	c.1603G>A	c.(1603-1605)Gtg>Atg	p.V535M	CUL7_ENST00000535468.1_Missense_Mutation_p.V619M|CUL7_ENST00000478630.1_5'Flank			Q14999	CUL7_HUMAN	cullin 7	535					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.V535M(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TCTATGGGCACGGCCAGTTCA	0.562													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19969	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	ovary(1)	6											93.0	86.0	88.0					6																	43017367		2203	4300	6503	43125345	SO:0001583	missense	9820			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.1603G>A	6.37:g.43017367C>T	ENSP00000265348:p.Val535Met	Unknown		x	x	x	43125345	B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	37	CCDS4881.1	SNP	19	Broad	.	.	.	.	.	.	.	.	.	.	C	19.02	3.746371	0.69418	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.65178	-0.14;-0.14	5.6	2.85	0.33270	.	0.428942	0.24429	N	0.038615	T	0.55940	0.1952	M	0.71206	2.165	0.80722	D	1	P;D	0.63880	0.945;0.993	B;P	0.50405	0.252;0.64	T	0.61983	-0.6950	10	0.87932	D	0	-9.7009	10.0644	0.42295	0.0:0.7803:0.0:0.2197	.	619;535	F5H0L1;Q14999	.;CUL7_HUMAN	M	535;619	ENSP00000265348:V535M;ENSP00000438788:V619M	ENSP00000265348:V535M	V	-	1	0	CUL7	43125345	0.901000	0.30685	0.941000	0.38009	0.895000	0.52256	1.908000	0.39907	0.737000	0.32582	0.655000	0.94253	GTG		0.562	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		Missense_Mutation
KHDRBS2	202559	broad.mit.edu	37	6	62604663	62604663	+	Silent	SNP	G	G	C			TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr6:62604663G>C	ENST00000281156.4	-	6	965	c.687C>G	c.(685-687)acC>acG	p.T229T		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	229	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)	p.T229T(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		GCGCTCCACGGGTTACAGTGC	0.622																																																1	Substitution - coding silent(1)	ovary(1)	6											45.0	46.0	46.0					6																	62604663		2203	4300	6503	62662622	SO:0001819	synonymous_variant	202559			BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.687C>G	6.37:g.62604663G>C		Unknown		x	x	x	62662622	A8K7M8|Q8N4I4|Q8TCZ4	Silent	SNP	ENST00000281156.4	37	CCDS4963.1	SNP	43	Broad																																																																																				0.622	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688		Silent
ROS1	6098	broad.mit.edu	37	6	117665264	117665264	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0883-01	TCGA-13-0883-10			T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Sequenom_PCR_WGA			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr6:117665264T>C	ENST00000368508.3	-	27	4681	c.4483A>G	c.(4483-4485)Aat>Gat	p.N1495D	ROS1_ENST00000368507.3_Missense_Mutation_p.N1489D|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1495	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.N1495D(1)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TTCCTGTCATTAACTTCTGCA	0.383			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																		Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"""O, E"""	1	Substitution - Missense(1)	ovary(1)	6											182.0	176.0	178.0					6																	117665264		2203	4300	6503	117771957	SO:0001583	missense	6098			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.4483A>G	6.37:g.117665264T>C	ENSP00000357494:p.Asn1495Asp	Somatic		x	x	x	117771957	Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	CCDS5116.1	SNP	61	Broad	.	.	.	.	.	.	.	.	.	.	T	4.547	0.101511	0.08731	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.53206	0.63;0.63	5.16	2.75	0.32379	.	0.364675	0.26421	N	0.024462	T	0.12092	0.0294	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30707	-0.9969	10	0.18276	T	0.48	.	6.8745	0.24139	0.0:0.1876:0.0:0.8124	.	1495	P08922	ROS1_HUMAN	D	1495;1489	ENSP00000357494:N1495D;ENSP00000357493:N1489D	ENSP00000357493:N1489D	N	-	1	0	ROS1	117771957	0.001000	0.12720	0.003000	0.11579	0.134000	0.20937	0.854000	0.27791	0.381000	0.24851	0.459000	0.35465	AAT		0.383	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			Missense_Mutation
GRM1	2911	broad.mit.edu	37	6	146351325	146351325	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr6:146351325G>T	ENST00000282753.1	+	1	907	c.672G>T	c.(670-672)tgG>tgT	p.W224C	GRM1_ENST00000355289.4_Missense_Mutation_p.W224C|GRM1_ENST00000492807.2_Missense_Mutation_p.W224C|GRM1_ENST00000392299.2_Missense_Mutation_p.W224C|GRM1_ENST00000361719.2_Missense_Mutation_p.W224C|GRM1_ENST00000507907.1_Missense_Mutation_p.W224C			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	224					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.W224C(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GTTACAATTGGACCTATGTCT	0.458																																																1	Substitution - Missense(1)	ovary(1)	6											65.0	67.0	66.0					6																	146351325		2203	4300	6503	146393018	SO:0001583	missense	2911			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.672G>T	6.37:g.146351325G>T	ENSP00000282753:p.Trp224Cys	Unknown		x	x	x	146393018	B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	CCDS5209.1	SNP	41	Broad	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052013	0.75960	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.91631	-2.88;-2.88;-2.88;-2.88;-2.88;-2.88	5.79	5.79	0.91817	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.97250	0.9101	M	0.94063	3.49	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.998	D	0.97647	1.0152	10	0.87932	D	0	.	19.6316	0.95708	0.0:0.0:1.0:0.0	.	224;224;219;224	F8W805;Q13255;Q59HC2;Q13255-2	.;GRM1_HUMAN;.;.	C	224	ENSP00000354896:W224C;ENSP00000376119:W224C;ENSP00000424095:W224C;ENSP00000282753:W224C;ENSP00000347437:W224C;ENSP00000425599:W224C	ENSP00000282753:W224C	W	+	3	0	GRM1	146393018	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.736000	0.93811	0.561000	0.74099	TGG		0.458	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		Missense_Mutation
ABCB5	340273	broad.mit.edu	37	7	20766691	20766691	+	Missense_Mutation	SNP	G	G	A	rs111647033	byFrequency	TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr7:20766691G>A	ENST00000404938.2	+	22	3306	c.2654G>A	c.(2653-2655)cGt>cAt	p.R885H	ABCB5_ENST00000258738.6_Missense_Mutation_p.R440H	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	885	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)	p.R440H(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GAGAATATACGTACTATAGTG	0.318																																																1	Substitution - Missense(1)	ovary(1)	7											97.0	102.0	101.0					7																	20766691		2203	4300	6503	20733216	SO:0001583	missense	340273			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.2654G>A	7.37:g.20766691G>A	ENSP00000384881:p.Arg885His	Unknown		x	x	x	20733216	A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	CCDS55090.1	SNP	40	Broad	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	22.7	4.325921	0.81580	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.91631	-2.88;-2.88	4.54	4.54	0.55810	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.64402	D	0.000013	D	0.97176	0.9077	H	0.95114	3.625	0.47862	D	0.999535	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.97762	1.0221	10	0.87932	D	0	.	15.6107	0.76713	0.0:0.0:1.0:0.0	.	885;63;440	A7BKA4;A0ASV4;Q2M3G0	.;.;ABCB5_HUMAN	H	885;440	ENSP00000384881:R885H;ENSP00000258738:R440H	ENSP00000258738:R440H	R	+	2	0	ABCB5	20733216	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	2.808000	0.47963	2.805000	0.96524	0.655000	0.94253	CGT		0.318	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		Missense_Mutation
MYO1G	64005	broad.mit.edu	37	7	45016532	45016532	+	Silent	SNP	G	G	C			TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr7:45016532G>C	ENST00000258787.7	-	2	370	c.234C>G	c.(232-234)ctC>ctG	p.L78L		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	78	Myosin motor.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.L78L(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CCACAGCATAGAGATGGGGTG	0.652																																																1	Substitution - coding silent(1)	ovary(1)	7											74.0	63.0	67.0					7																	45016532		2203	4300	6503	44983057	SO:0001819	synonymous_variant	64005			AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"""Myosins / Myosin superfamily : Class I"""	13880	protein-coding gene	gene with protein product	"""minor histocompatibility antigen HA-2"""	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.234C>G	7.37:g.45016532G>C		Unknown		x	x	x	44983057	Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Silent	SNP	ENST00000258787.7	37	CCDS34629.1	SNP	33	Broad																																																																																				0.652	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2			Silent
RBM48	84060	broad.mit.edu	37	7	92164249	92164249	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr7:92164249A>G	ENST00000265732.5	+	4	1023	c.982A>G	c.(982-984)Aca>Gca	p.T328A	RBM48_ENST00000481551.1_Missense_Mutation_p.T328A	NM_032120.2	NP_115496.2	Q5RL73	RBM48_HUMAN	RNA binding motif protein 48	328						nucleus (GO:0005634)	RNA binding (GO:0003723)	p.T328A(1)									CTCATTGAATACAACGGCGAA	0.333																																																1	Substitution - Missense(1)	ovary(1)	7											50.0	48.0	49.0					7																	92164249		1844	4089	5933	92002185	SO:0001583	missense	84060			AL136619	CCDS43615.1	7q21.2	2013-02-12	2011-12-09	2011-12-09	ENSG00000127993	ENSG00000127993		"""RNA binding motif (RRM) containing"""	21785	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 64"""	C7orf64			Standard	NM_032120		Approved	DKFZp564O0523, HSPC304	uc003ulz.3	Q5RL73	OTTHUMG00000159535	ENST00000265732.5:c.982A>G	7.37:g.92164249A>G	ENSP00000265732:p.Thr328Ala	Unknown		x	x	x	92002185	B7Z2K5|B7ZL51|Q5H9T2|Q8IYW7|Q96NS0|Q9H0V7	Missense_Mutation	SNP	ENST00000265732.5	37	CCDS43615.1	SNP	14	Broad	.	.	.	.	.	.	.	.	.	.	A	9.355	1.066532	0.20067	.	.	ENSG00000127993	ENST00000265732;ENST00000481551;ENST00000450580	.	.	.	5.11	2.74	0.32292	.	0.306416	0.40144	N	0.001179	T	0.49966	0.1588	M	0.76574	2.34	0.36962	D	0.893384	B;B	0.26902	0.012;0.163	B;B	0.20384	0.01;0.029	T	0.45804	-0.9236	9	0.15499	T	0.54	0.657	8.0104	0.30351	0.7507:0.0:0.2493:0.0	.	328;328	B7Z2K5;Q5RL73	.;CG064_HUMAN	A	328	.	ENSP00000265732:T328A	T	+	1	0	C7orf64	92002185	1.000000	0.71417	0.998000	0.56505	0.380000	0.30137	3.803000	0.55560	0.418000	0.25898	-0.456000	0.05471	ACA		0.333	RBM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356076.1	NM_032120		Missense_Mutation
HEPACAM2	253012	broad.mit.edu	37	7	92844819	92844819	+	Missense_Mutation	SNP	G	G	C	rs35608547	byFrequency	TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr7:92844819G>C	ENST00000394468.2	-	3	687	c.610C>G	c.(610-612)Ctt>Gtt	p.L204V	HEPACAM2_ENST00000341723.4_Missense_Mutation_p.L192V|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.L227V|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.L192V	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	204	Ig-like C2-type 1.				centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)		p.L192V(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						GCAATATGAAGGGTATTGTTT	0.478																																																1	Substitution - Missense(1)	ovary(1)	7											143.0	140.0	141.0					7																	92844819		2203	4300	6503	92682755	SO:0001583	missense	253012			AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.610C>G	7.37:g.92844819G>C	ENSP00000377980:p.Leu204Val	Unknown		x	x	x	92682755	B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Missense_Mutation	SNP	ENST00000394468.2	37	CCDS43616.1	SNP	35	Broad	.	.	.	.	.	.	.	.	.	.	G	18.83	3.707218	0.68615	.	.	ENSG00000188175	ENST00000394468;ENST00000341723;ENST00000440868;ENST00000453812	T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44	5.39	2.61	0.31194	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.178327	0.49916	D	0.000126	D	0.86855	0.6033	M	0.88979	2.995	0.42575	D	0.993192	P;D;P;D	0.56746	0.947;0.977;0.762;0.97	P;P;P;P	0.55222	0.771;0.589;0.735;0.733	D	0.86342	0.1705	10	0.87932	D	0	-6.3814	8.8671	0.35294	0.2879:0.0:0.7121:0.0	.	227;192;204;192	E9PDV5;C9JN07;A8MVW5;A8MVW5-2	.;.;HECA2_HUMAN;.	V	204;192;192;227	ENSP00000377980:L204V;ENSP00000340532:L192V;ENSP00000389592:L192V;ENSP00000390204:L227V	ENSP00000340532:L192V	L	-	1	0	HEPACAM2	92682755	1.000000	0.71417	0.969000	0.41365	0.977000	0.68977	3.675000	0.54605	0.351000	0.24027	0.591000	0.81541	CTT		0.478	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1	NM_198151		Missense_Mutation
AHCYL2	23382	broad.mit.edu	37	7	129040167	129040167	+	Missense_Mutation	SNP	A	A	G			TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr7:129040167A>G	ENST00000325006.3	+	6	914	c.860A>G	c.(859-861)gAt>gGt	p.D287G	AHCYL2_ENST00000531335.2_Missense_Mutation_p.D206G|AHCYL2_ENST00000490911.1_Missense_Mutation_p.D184G|AHCYL2_ENST00000446212.1_Missense_Mutation_p.D185G|AHCYL2_ENST00000474594.1_Missense_Mutation_p.D184G|AHCYL2_ENST00000446544.2_Missense_Mutation_p.D286G	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	287					one-carbon metabolic process (GO:0006730)		adenosylhomocysteinase activity (GO:0004013)	p.D287G(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						GAGTCAGAAGATGACTTTTGG	0.448																																					Pancreas(160;1736 1964 29875 40941 45605)											1	Substitution - Missense(1)	ovary(1)	7											191.0	188.0	189.0					7																	129040167		2203	4300	6503	128827403	SO:0001583	missense	23382			AB020635	CCDS5812.1, CCDS47706.1, CCDS47707.1, CCDS47708.1, CCDS47707.2	7q32.1	2009-06-12	2009-06-12		ENSG00000158467	ENSG00000158467			22204	protein-coding gene	gene with protein product			"""S-adenosylhomocysteine hydrolase-like 2"""				Standard	NM_001130720		Approved	KIAA0828	uc011kov.2	Q96HN2	OTTHUMG00000157677	ENST00000325006.3:c.860A>G	7.37:g.129040167A>G	ENSP00000315931:p.Asp287Gly	Unknown		x	x	x	128827403	B4DIZ5|D9N155|O94917	Missense_Mutation	SNP	ENST00000325006.3	37	CCDS5812.1	SNP	12	Broad	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	28.7|28.7	4.946047|4.946047	0.92593|0.92593	.|.	.|.	ENSG00000158467|ENSG00000158467	ENST00000325006;ENST00000446544;ENST00000531335;ENST00000474594;ENST00000446212;ENST00000490911|ENST00000466924	T;T;T;T;T;T|.	0.77489|.	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1|.	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77837|0.77837	0.4190|0.4190	M|M	0.85777|0.85777	2.775|2.775	0.58432|0.58432	D|D	0.999996|0.999996	P;P;P;P;P|.	0.52842|.	0.789;0.789;0.956;0.789;0.945|.	P;P;P;P;P|.	0.59595|.	0.779;0.779;0.86;0.779;0.781|.	T|T	0.80861|0.80861	-0.1193|-0.1193	10|5	0.87932|.	D|.	0|.	-9.6753|-9.6753	13.7453|13.7453	0.62872|0.62872	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	184;185;287;184;286|.	B4DIZ5;D7UEQ7;Q96HN2;D9N155;Q96HN2-2|.	.;.;SAHH3_HUMAN;.;.|.	G|V	287;286;206;184;185;184|194	ENSP00000315931:D287G;ENSP00000413639:D286G;ENSP00000431787:D206G;ENSP00000420459:D184G;ENSP00000405267:D185G;ENSP00000420801:D184G|.	ENSP00000315931:D287G|.	D|M	+|+	2|1	0|0	AHCYL2|AHCYL2	128827403|128827403	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	8.884000|8.884000	0.92432|0.92432	1.980000|1.980000	0.57719|0.57719	0.460000|0.460000	0.39030|0.39030	GAT|ATG		0.448	AHCYL2-012	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354065.1			Missense_Mutation
EYA1	2138	broad.mit.edu	37	8	72267025	72267025	+	Missense_Mutation	SNP	C	C	T	rs267601985		TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr8:72267025C>T	ENST00000340726.3	-	3	755	c.116G>A	c.(115-117)gGc>gAc	p.G39D	EYA1_ENST00000388741.2_Intron|EYA1_ENST00000303824.7_Missense_Mutation_p.G39D|EYA1_ENST00000419131.1_Missense_Mutation_p.G39D|EYA1_ENST00000388742.4_Missense_Mutation_p.G39D|EYA1_ENST00000388740.3_Intron|EYA1_ENST00000388743.2_Missense_Mutation_p.G39D	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	39					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)	p.G39D(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			ACCTTCGGTGCCATTGGGAGT	0.438																																																1	Substitution - Missense(1)	ovary(1)	8											142.0	145.0	144.0					8																	72267025		2203	4300	6503	72429579	SO:0001583	missense	2138			AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.116G>A	8.37:g.72267025C>T	ENSP00000342626:p.Gly39Asp	Unknown		x	x	x	72429579	A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	ENST00000340726.3	37	CCDS34906.1	SNP	26	Broad	.	.	.	.	.	.	.	.	.	.	C	27.8	4.868080	0.91587	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000303824;ENST00000388743;ENST00000419131	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.77363	0.4119	L	0.53249	1.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;1.0;0.978	T	0.77699	-0.2490	10	0.66056	D	0.02	-15.8674	19.8144	0.96560	0.0:1.0:0.0:0.0	.	39;39;39	A6NCB9;Q99502;G5E9R4	.;EYA1_HUMAN;.	D	39	ENSP00000373394:G39D;ENSP00000342626:G39D;ENSP00000303221:G39D;ENSP00000373395:G39D;ENSP00000410176:G39D	ENSP00000303221:G39D	G	-	2	0	EYA1	72429579	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.814000	0.86154	2.676000	0.91093	0.650000	0.86243	GGC		0.438	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060		Missense_Mutation
TG	7038	broad.mit.edu	37	8	134034381	134034381	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr8:134034381G>T	ENST00000220616.4	+	40	7062	c.7022G>T	c.(7021-7023)gGc>gTc	p.G2341V	TG_ENST00000542445.1_Missense_Mutation_p.G711V|TG_ENST00000377869.1_Missense_Mutation_p.G2284V|TG_ENST00000519543.1_Missense_Mutation_p.G474V	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2341					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.G2341V(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGTGTCTTCGGCTTCCTGAGT	0.617																																																1	Substitution - Missense(1)	ovary(1)	8											143.0	131.0	135.0					8																	134034381		2203	4300	6503	134103563	SO:0001583	missense	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7022G>T	8.37:g.134034381G>T	ENSP00000220616:p.Gly2341Val	Unknown		x	x	x	134103563	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	SNP	42	Broad	.	.	.	.	.	.	.	.	.	.	G	26.3	4.724900	0.89298	.	.	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543	D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36	5.93	5.93	0.95920	Carboxylesterase, type B (1);	0.062211	0.64402	D	0.000006	D	0.97071	0.9043	H	0.99026	4.405	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98270	1.0503	10	0.87932	D	0	.	17.0766	0.86588	0.0:0.0:1.0:0.0	.	474;711;2341	E7EVM0;F5GWW5;P01266	.;.;THYG_HUMAN	V	2284;1147;2341;711;474	ENSP00000367100:G2284V;ENSP00000220616:G2341V;ENSP00000441693:G711V;ENSP00000430430:G474V	ENSP00000220616:G2341V	G	+	2	0	TG	134103563	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.497000	0.90488	2.815000	0.96918	0.561000	0.74099	GGC		0.617	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		Missense_Mutation
ADAMTSL1	92949	broad.mit.edu	37	9	18777219	18777219	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr9:18777219C>A	ENST00000380548.4	+	19	3331	c.2992C>A	c.(2992-2994)Cag>Aag	p.Q998K		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	998						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.Q998K(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCACAAACACCAGAACGGGAT	0.687																																																1	Substitution - Missense(1)	ovary(1)	9											19.0	23.0	22.0					9																	18777219		1898	4104	6002	18767219	SO:0001583	missense	92949			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.2992C>A	9.37:g.18777219C>A	ENSP00000369921:p.Gln998Lys	Unknown		x	x	x	18767219	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	CCDS47954.1	SNP	21	Broad	.	.	.	.	.	.	.	.	.	.	C	5.409	0.260702	0.10239	.	.	ENSG00000178031	ENST00000380548	T	0.61859	0.07	5.75	5.75	0.90469	.	.	.	.	.	T	0.43055	0.1230	N	0.14661	0.345	0.80722	D	1	B	0.20887	0.049	B	0.16722	0.016	T	0.24083	-1.0170	9	0.34782	T	0.22	.	16.9189	0.86159	0.0:0.8725:0.1275:0.0	.	998	Q8N6G6	ATL1_HUMAN	K	998	ENSP00000369921:Q998K	ENSP00000369921:Q998K	Q	+	1	0	ADAMTSL1	18767219	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	0.726000	0.25984	2.724000	0.93272	0.455000	0.32223	CAG		0.687	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			Missense_Mutation
TBX22	50945	broad.mit.edu	37	X	79281244	79281244	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0883-01	TCGA-13-0883-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chrX:79281244C>A	ENST00000373294.5	+	4	629	c.601C>A	c.(601-603)Ctc>Atc	p.L201I	TBX22_ENST00000442340.1_Missense_Mutation_p.L81I|TBX22_ENST00000373296.3_Missense_Mutation_p.L201I|TBX22_ENST00000373291.1_Missense_Mutation_p.L81I	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	201					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L201I(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TCGCATGAAACTCACCAACAA	0.537																																																1	Substitution - Missense(1)	ovary(1)	X											105.0	68.0	80.0					X																	79281244		2203	4300	6503	79167900	SO:0001583	missense	50945			AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.601C>A	X.37:g.79281244C>A	ENSP00000362390:p.Leu201Ile	Unknown		x	x	x	79167900	Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	ENST00000373294.5	37	CCDS14445.1	SNP	20	Broad	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385035	0.82792	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	D;D;D;D	0.90955	-2.76;-2.76;-2.76;-2.76	4.77	4.77	0.60923	p53-like transcription factor, DNA-binding (1);	0.000000	0.64402	D	0.000001	D	0.95030	0.8391	M	0.77103	2.36	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.95716	0.8762	10	0.87932	D	0	.	15.4757	0.75478	0.0:1.0:0.0:0.0	.	201	Q9Y458	TBX22_HUMAN	I	201;81;201;81	ENSP00000362393:L201I;ENSP00000396394:L81I;ENSP00000362390:L201I;ENSP00000362388:L81I	ENSP00000362388:L81I	L	+	1	0	TBX22	79167900	1.000000	0.71417	0.999000	0.59377	0.620000	0.37586	5.619000	0.67729	1.948000	0.56530	0.600000	0.82982	CTC		0.537	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954		Missense_Mutation
TP53	7157	broad.mit.edu	37	17	7577566	7577567	+	Frame_Shift_Ins	INS	-	-	A	rs193920789		TCGA-13-0883-01	TCGA-13-0883-10			A	-	-	-	Unknown	Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-13-0883-01	TCGA-13-0883-10	g.chr17:7577566_7577567insA	ENST00000269305.4	-	7	903_904	c.714_715insT	c.(712-717)tgtaacfs	p.N239fs	TP53_ENST00000413465.2_Frame_Shift_Ins_p.N239fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Frame_Shift_Ins_p.N239fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.N239fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.N239fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.N239fs	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	239	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (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.N239D(33)|p.N239fs*25(12)|p.0?(8)|p.N239Y(6)|p.N239fs*1(5)|p.?(5)|p.M237_N239delMCN(4)|p.C238*(4)|p.N239_C242delNSSC(3)|p.N239fs*8(2)|p.C238W(2)|p.N239_S240delNS(2)|p.N239fs*26(1)|p.N146D(1)|p.N146fs*1(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.C238_N239insX(1)|p.C238_M246delCNSSCMGGM(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.C238fs*21(1)|p.C238C(1)|p.H233fs*6(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242del(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)	CAGGAACTGTTACACATGTAGT	0.574		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)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	103	Substitution - Missense(42)|Insertion - Frameshift(18)|Deletion - In frame(15)|Whole gene deletion(8)|Deletion - Frameshift(7)|Substitution - Nonsense(5)|Unknown(5)|Complex - frameshift(1)|Substitution - coding silent(1)|Insertion - In frame(1)	ovary(14)|haematopoietic_and_lymphoid_tissue(11)|oesophagus(11)|central_nervous_system(9)|lung(8)|biliary_tract(7)|large_intestine(7)|upper_aerodigestive_tract(6)|breast(6)|endometrium(5)|urinary_tract(5)|bone(5)|stomach(4)|prostate(2)|liver(1)|skin(1)|pancreas(1)	17																																								7518292	SO:0001589	frameshift_variant	7157	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;	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.715dupT	17.37:g.7577567_7577567dupA	ENSP00000269305:p.Asn239fs	Somatic		Capture	Illumina GAIIx	Phase_I	7518291	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	Frame_Shift_Ins	INS	ENST00000269305.4	37	CCDS11118.1	INS	61	Broad																																																																																				0.574	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		Frame_Shift_Ins
