#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
AKNAD1	254268	broad.mit.edu	37	1	109394991	109394991	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1603-01	TCGA-24-1603-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-24-1603-01	TCGA-24-1603-10	g.chr1:109394991G>A	ENST00000370001.3	-	2	564	c.296C>T	c.(295-297)gCa>gTa	p.A99V	AKNAD1_ENST00000357393.4_Intron|AKNAD1_ENST00000369994.1_Missense_Mutation_p.A99V|AKNAD1_ENST00000369995.3_Missense_Mutation_p.A99V	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	99						cytoplasm (GO:0005737)		p.A99V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TCCTTCATTTGCTGGAATATG	0.393																																																1	Substitution - Missense(1)	ovary(1)	1											109.0	107.0	108.0					1																	109394991		2203	4300	6503	109196514	SO:0001583	missense	254268			AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 62"""	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.296C>T	1.37:g.109394991G>A	ENSP00000359018:p.Ala99Val	Unknown		x	x	x	109196514	B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	ENST00000370001.3	37	CCDS791.2	SNP	46	Broad	.	.	.	.	.	.	.	.	.	.	G	10.93	1.489642	0.26686	.	.	ENSG00000162641	ENST00000370001;ENST00000369994;ENST00000369995	T;T;T	0.10099	2.94;2.95;2.91	5.77	1.13	0.20643	.	0.696518	0.13914	N	0.354005	T	0.03178	0.0093	L	0.50333	1.59	0.09310	N	1	B	0.30406	0.278	B	0.30179	0.112	T	0.37979	-0.9682	10	0.42905	T	0.14	-2.286	4.6999	0.12822	0.0767:0.1106:0.3787:0.434	.	99	Q5T1N1	AKND1_HUMAN	V	99	ENSP00000359018:A99V;ENSP00000359011:A99V;ENSP00000359012:A99V	ENSP00000359011:A99V	A	-	2	0	AKNAD1	109196514	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.072000	0.14617	0.710000	0.31997	0.655000	0.94253	GCA		0.393	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763		Missense_Mutation
CHRM3	1131	broad.mit.edu	37	1	240071232	240071232	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1603-01	TCGA-24-1603-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-24-1603-01	TCGA-24-1603-10	g.chr1:240071232G>T	ENST00000255380.4	+	5	1260	c.481G>T	c.(481-483)Gtc>Ttc	p.V161F		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	161					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)	p.V161F(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GAATCTTCTGGTCATCAGCTT	0.507																																																1	Substitution - Missense(1)	ovary(1)	1											109.0	108.0	109.0					1																	240071232		2203	4300	6503	238137855	SO:0001583	missense	1131			U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.481G>T	1.37:g.240071232G>T	ENSP00000255380:p.Val161Phe	Unknown		x	x	x	238137855	Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	ENST00000255380.4	37	CCDS1616.1	SNP	44	Broad	.	.	.	.	.	.	.	.	.	.	G	24.1	4.495507	0.85069	.	.	ENSG00000133019	ENST00000255380	T	0.29655	1.56	5.9	5.9	0.94986	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.53753	0.1816	L	0.49455	1.56	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.51060	-0.8753	10	0.87932	D	0	-34.57	20.2789	0.98501	0.0:0.0:1.0:0.0	.	161	P20309	ACM3_HUMAN	F	161	ENSP00000255380:V161F	ENSP00000255380:V161F	V	+	1	0	CHRM3	238137855	1.000000	0.71417	0.996000	0.52242	0.926000	0.56050	9.869000	0.99810	2.788000	0.95919	0.650000	0.86243	GTC		0.507	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		Missense_Mutation
OR4A5	81318	broad.mit.edu	37	11	51411670	51411670	+	Silent	SNP	G	G	C	rs370303718		TCGA-24-1603-01	TCGA-24-1603-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-24-1603-01	TCGA-24-1603-10	g.chr11:51411670G>C	ENST00000319760.6	-	1	778	c.726C>G	c.(724-726)acC>acG	p.T242T		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T242T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				GGACAACAACGGTACTGCCGG	0.398																																																2	Substitution - coding silent(2)	ovary(1)|lung(1)	11											61.0	60.0	61.0					11																	51411670		2201	4295	6496	51268246	SO:0001819	synonymous_variant	81318			AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.726C>G	11.37:g.51411670G>C		Unknown		x	x	x	51268246	Q6IF84	Silent	SNP	ENST00000319760.6	37	CCDS31497.1	SNP	39	Broad																																																																																				0.398	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		Silent
ST14	6768	broad.mit.edu	37	11	130058087	130058087	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1603-01	TCGA-24-1603-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-24-1603-01	TCGA-24-1603-10	g.chr11:130058087C>T	ENST00000278742.5	+	2	578	c.160C>T	c.(160-162)Cgc>Tgc	p.R54C		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	54					keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.R54C(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	TGGCCCGGGGCGCTGGGTGGT	0.607																																																1	Substitution - Missense(1)	ovary(1)	11											68.0	66.0	67.0					11																	130058087		2201	4297	6498	129563297	SO:0001583	missense	6768			AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"""Serine peptidases / Transmembrane"""	11344	protein-coding gene	gene with protein product	"""epithin"", ""matriptase"""	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.160C>T	11.37:g.130058087C>T	ENSP00000278742:p.Arg54Cys	Unknown		x	x	x	129563297	Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Missense_Mutation	SNP	ENST00000278742.5	37	CCDS8487.1	SNP	27	Broad	.	.	.	.	.	.	.	.	.	.	C	13.66	2.304573	0.40795	.	.	ENSG00000149418	ENST00000278742	D	0.88896	-2.44	4.95	3.92	0.45320	.	0.000000	0.35495	N	0.003163	D	0.82829	0.5122	L	0.38175	1.15	0.80722	D	1	B	0.25521	0.128	B	0.19666	0.026	T	0.79225	-0.1891	10	0.72032	D	0.01	.	10.8941	0.47012	0.0:0.9025:0.0:0.0975	.	54	Q9Y5Y6	ST14_HUMAN	C	54	ENSP00000278742:R54C	ENSP00000278742:R54C	R	+	1	0	ST14	129563297	1.000000	0.71417	0.892000	0.35008	0.525000	0.34531	1.712000	0.37940	0.888000	0.36160	0.655000	0.94253	CGC		0.607	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1			Missense_Mutation
POLE2	5427	broad.mit.edu	37	14	50140860	50140860	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1603-01	TCGA-24-1603-10			C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Sequenom_PCR_WGA			Illumina GAIIx	TCGA-24-1603-01	TCGA-24-1603-10	g.chr14:50140860C>T	ENST00000216367.5	-	5	497	c.398G>A	c.(397-399)cGa>cAa	p.R133Q	POLE2_ENST00000556584.1_5'UTR|POLE2_ENST00000554396.1_Missense_Mutation_p.R133Q|POLE2_ENST00000539565.2_Missense_Mutation_p.R107Q	NM_002692.3	NP_002683.2	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	133					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|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)	epsilon DNA polymerase complex (GO:0008622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)	p.R133Q(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)				Cladribine(DB00242)	AATGGTATATCGCTCACGAAA	0.423																																																1	Substitution - Missense(1)	ovary(1)	14											253.0	263.0	259.0					14																	50140860		2203	4300	6503	49210610	SO:0001583	missense	5427			AF025840	CCDS32073.1, CCDS55914.1, CCDS55915.1	14q21-q22	2012-05-18	2012-05-18		ENSG00000100479	ENSG00000100479		"""DNA polymerases"""	9178	protein-coding gene	gene with protein product	"""DNA polymerase epsilon subunit B"""	602670	"""polymerase (DNA directed), epsilon 2 (p59 subunit)"""			9405441, 9443964	Standard	NM_002692		Approved	DPE2	uc001wwu.3	P56282	OTTHUMG00000170813	ENST00000216367.5:c.398G>A	14.37:g.50140860C>T	ENSP00000216367:p.Arg133Gln	Somatic		x	x	x	49210610	A0AV55|A4FU92|A4LBB7|A6NH58|B4DDE6|O43560	Missense_Mutation	SNP	ENST00000216367.5	37	CCDS32073.1	SNP	31	Broad	.	.	.	.	.	.	.	.	.	.	C	31	5.091167	0.94149	.	.	ENSG00000100479	ENST00000216367;ENST00000539565;ENST00000554396	T;T;T	0.59772	0.65;0.76;0.24	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.82384	0.5025	M	0.92691	3.335	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86859	0.2028	10	0.87932	D	0	-11.9787	18.6008	0.91247	0.0:1.0:0.0:0.0	.	133	P56282	DPOE2_HUMAN	Q	133;107;133	ENSP00000216367:R133Q;ENSP00000446313:R107Q;ENSP00000451621:R133Q	ENSP00000216367:R133Q	R	-	2	0	POLE2	49210610	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.804000	0.75186	2.466000	0.83321	0.650000	0.86243	CGA		0.423	POLE2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410512.1	NM_002692		Missense_Mutation
TTYH2	94015	broad.mit.edu	37	17	72249275	72249275	+	Missense_Mutation	SNP	C	C	T	rs150383554		TCGA-24-1603-01	TCGA-24-1603-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-24-1603-01	TCGA-24-1603-10	g.chr17:72249275C>T	ENST00000269346.4	+	12	1389	c.1315C>T	c.(1315-1317)Cgc>Tgc	p.R439C	TTYH2_ENST00000441391.2_Missense_Mutation_p.R118C|TTYH2_ENST00000529107.1_Missense_Mutation_p.R418C	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	439						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.R439C(2)		breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						CCAAGCCTGGCGCATGGCGGC	0.587																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	17						C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	120.0	119.0	119.0		1315,352	4.5	1.0	17	dbSNP_134	119	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	TTYH2	NM_032646.5,NM_052869.1	180,180	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	439/535,118/214	72249275	2,13004	2203	4300	6503	69760870	SO:0001583	missense	94015				CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"""tweety (Drosophila) homolog 2"", ""tweety homolog 2 (Drosophila)"""			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.1315C>T	17.37:g.72249275C>T	ENSP00000269346:p.Arg439Cys	Unknown		x	x	x	69760870	B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Missense_Mutation	SNP	ENST00000269346.4	37	CCDS32717.1	SNP	27	Broad	.	.	.	.	.	.	.	.	.	.	C	17.82	3.483194	0.63962	0.0	2.33E-4	ENSG00000141540	ENST00000269346;ENST00000529107;ENST00000441391	T;T;T	0.27890	2.63;2.43;1.64	4.51	4.51	0.55191	.	0.057445	0.64402	D	0.000009	T	0.51822	0.1697	M	0.76002	2.32	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.66847	0.926;0.947	T	0.56025	-0.8047	10	0.87932	D	0	-36.4406	11.3903	0.49811	0.1812:0.8188:0.0:0.0	.	418;439	B4DKD1;Q9BSA4	.;TTYH2_HUMAN	C	439;418;118	ENSP00000269346:R439C;ENSP00000433089:R418C;ENSP00000394576:R118C	ENSP00000269346:R439C	R	+	1	0	TTYH2	69760870	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	4.163000	0.58183	2.318000	0.78349	0.561000	0.74099	CGC		0.587	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1			Missense_Mutation
RTTN	25914	broad.mit.edu	37	18	67684648	67684648	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1603-01	TCGA-24-1603-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-24-1603-01	TCGA-24-1603-10	g.chr18:67684648G>C	ENST00000255674.6	-	46	6702	c.6416C>G	c.(6415-6417)gCt>gGt	p.A2139G	RTTN_ENST00000579986.1_5'Flank|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	2139					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.A2139G(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CTTACCATTAGCCAGGATCTT	0.338																																																1	Substitution - Missense(1)	ovary(1)	18											76.0	72.0	73.0					18																	67684648		1855	4100	5955	65835628	SO:0001583	missense	25914			AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.6416C>G	18.37:g.67684648G>C	ENSP00000255674:p.Ala2139Gly	Unknown		x	x	x	65835628	Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	CCDS42443.1	SNP	34	Broad	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049644	0.75846	.	.	ENSG00000176225	ENST00000255674	T	0.49432	0.78	5.39	5.39	0.77823	Armadillo-like helical (1);Armadillo-type fold (1);	0.071817	0.52532	D	0.000062	T	0.63094	0.2482	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.64491	-0.6395	10	0.66056	D	0.02	.	16.1878	0.81964	0.0:0.133:0.8669:0.0	.	2139	Q86VV8	RTTN_HUMAN	G	2139	ENSP00000255674:A2139G	ENSP00000255674:A2139G	A	-	2	0	RTTN	65835628	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.644000	0.74338	2.543000	0.85770	0.460000	0.39030	GCT		0.338	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		Missense_Mutation
RAVER1	125950	broad.mit.edu	37	19	10431538	10431538	+	Silent	SNP	C	C	T			TCGA-24-1603-01	TCGA-24-1603-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-24-1603-01	TCGA-24-1603-10	g.chr19:10431538C>T	ENST00000293677.6	-	9	1695	c.1614G>A	c.(1612-1614)ctG>ctA	p.L538L	CTD-2369P2.12_ENST00000586529.1_5'Flank	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	0						cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.L521L(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CCTTACCCGCCAGGTTGCTGG	0.701																																																1	Substitution - coding silent(1)	ovary(1)	19											9.0	11.0	10.0					19																	10431538		1785	4016	5801	10292538	SO:0001819	synonymous_variant	125950				CCDS45960.1	19p13.2	2013-02-12				ENSG00000161847		"""RNA binding motif (RRM) containing"""	30296	protein-coding gene	gene with protein product		609950				11853319, 11724819	Standard	NM_133452		Approved	KIAA1978	uc002moa.3	Q8IY67		ENST00000293677.6:c.1614G>A	19.37:g.10431538C>T		Unknown		x	x	x	10292538	A6NMU4|Q8IY60|Q8TF24	Silent	SNP	ENST00000293677.6	37	CCDS45960.1	SNP	21	Broad																																																																																				0.701	RAVER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451227.1	NM_133452		Silent
LDLR	3949	broad.mit.edu	37	19	11218140	11218140	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1603-01	TCGA-24-1603-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-24-1603-01	TCGA-24-1603-10	g.chr19:11218140A>G	ENST00000558518.1	+	6	1077	c.890A>G	c.(889-891)aAc>aGc	p.N297S	LDLR_ENST00000545707.1_Missense_Mutation_p.N170S|LDLR_ENST00000535915.1_Missense_Mutation_p.N256S|LDLR_ENST00000557933.1_Missense_Mutation_p.N297S|LDLR_ENST00000558013.1_Missense_Mutation_p.N297S|LDLR_ENST00000455727.2_Missense_Mutation_p.N129S	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	297	LDL-receptor class A 7. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.N297S(1)|p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	AAAGTCTGCAACATGGCTAGA	0.567																																					GBM(18;201 575 7820 21545)											2	Substitution - Missense(1)|Unknown(1)	ovary(1)|lung(1)	19	GRCh37	CD033542	LDLR	D							129.0	107.0	114.0					19																	11218140		2203	4300	6503	11079140	SO:0001583	missense	3949			AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"""Low density lipoprotein receptors"""	6547	protein-coding gene	gene with protein product	"""familial hypercholesterolemia"""	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.890A>G	19.37:g.11218140A>G	ENSP00000454071:p.Asn297Ser	Unknown		x	x	x	11079140	B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Missense_Mutation	SNP	ENST00000558518.1	37	CCDS12254.1	SNP	2	Broad	.	.	.	.	.	.	.	.	.	.	A	16.33	3.093942	0.56075	.	.	ENSG00000130164	ENST00000252444;ENST00000545707;ENST00000535915;ENST00000455727	D;D;D	0.96011	-3.88;-3.88;-3.88	5.33	5.33	0.75918	Low-density lipoprotein (LDL) receptor class A, conserved site (1);Growth factor, receptor (1);	0.181335	0.35495	N	0.003162	D	0.96769	0.8945	M	0.88450	2.955	0.58432	D	0.999992	P;B;P;B;P;P	0.39094	0.509;0.342;0.659;0.183;0.521;0.521	B;P;B;B;B;B	0.46208	0.437;0.507;0.437;0.254;0.293;0.293	D	0.97321	0.9944	10	0.72032	D	0.01	.	14.2801	0.66205	1.0:0.0:0.0:0.0	.	129;170;176;256;309;297	B4DR00;B4DJZ8;B4DII3;B4DTQ3;Q59FQ1;P01130	.;.;.;.;.;LDLR_HUMAN	S	297;170;256;129	ENSP00000437639:N170S;ENSP00000440520:N256S;ENSP00000397829:N129S	ENSP00000252444:N297S	N	+	2	0	LDLR	11079140	1.000000	0.71417	0.834000	0.33040	0.081000	0.17604	9.160000	0.94734	2.020000	0.59435	0.459000	0.35465	AAC		0.567	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2			Missense_Mutation
DPF1	8193	broad.mit.edu	37	19	38702963	38702963	+	Nonsense_Mutation	SNP	G	G	T			TCGA-24-1603-01	TCGA-24-1603-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-24-1603-01	TCGA-24-1603-10	g.chr19:38702963G>T	ENST00000420980.2	-	10	1055	c.1029C>A	c.(1027-1029)taC>taA	p.Y343*	DPF1_ENST00000456296.1_Nonsense_Mutation_p.Y351*|DPF1_ENST00000412732.1_Nonsense_Mutation_p.Y295*|DPF1_ENST00000355526.4_Nonsense_Mutation_p.Y377*|DPF1_ENST00000414789.1_Nonsense_Mutation_p.Y295*|DPF1_ENST00000416611.1_Nonsense_Mutation_p.Y361*	NM_004647.2	NP_004638.2	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	343					apoptotic process (GO:0006915)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)	p.Y316*(1)		large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AGTACATGTGGTAACCCCGAT	0.672																																																1	Substitution - Nonsense(1)	ovary(1)	19											12.0	12.0	12.0					19																	38702963		2153	4191	6344	43394803	SO:0001587	stop_gained	8193			U43843	CCDS33008.2, CCDS46064.1, CCDS46065.1	19q13.12	2013-01-28			ENSG00000011332	ENSG00000011332		"""Zinc fingers, PHD-type"""	20225	protein-coding gene	gene with protein product		601670				8812431	Standard	XM_005259288		Approved	neuro-d4, NEUD4, BAF45b	uc002ohm.3	Q92782	OTTHUMG00000157164	ENST00000420980.2:c.1029C>A	19.37:g.38702963G>T	ENSP00000397354:p.Tyr343*	Unknown		x	x	x	43394803	B3KSY8|Q08AJ0	Nonsense_Mutation	SNP	ENST00000420980.2	37	CCDS33008.2	SNP	44	Broad	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.9|25.9	4.684760|4.684760	0.88639|0.88639	.|.	.|.	ENSG00000011332|ENSG00000011332	ENST00000355526|ENST00000420980;ENST00000437720;ENST00000412732;ENST00000416611;ENST00000414789;ENST00000456296	.|.	.|.	.|.	3.71|3.71	2.67|2.67	0.31697|0.31697	.|.	.|0.000000	.|0.53938	.|U	.|0.000050	T|.	0.55016|.	0.1894|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.48625|.	-0.9019|.	4|.	.|.	.|.	.|.	-17.1892|-17.1892	6.9281|6.9281	0.24426|0.24426	0.2178:0.0:0.7822:0.0|0.2178:0.0:0.7822:0.0	.|.	.|.	.|.	.|.	T|X	370|343;377;295;361;295;351	.|.	.|.	P|Y	-|-	1|3	0|2	DPF1|DPF1	43394803|43394803	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.448000|1.448000	0.35112|0.35112	0.764000|0.764000	0.33197|0.33197	0.579000|0.579000	0.79373|0.79373	CCA|TAC		0.672	DPF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347721.1			Nonsense_Mutation
CD79A	973	broad.mit.edu	37	19	42383707	42383707	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1603-01	TCGA-24-1603-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-24-1603-01	TCGA-24-1603-10	g.chr19:42383707C>T	ENST00000221972.3	+	3	667	c.482C>T	c.(481-483)aCg>aTg	p.T161M	CD79A_ENST00000444740.2_Missense_Mutation_p.T123M	NM_001783.3|NM_021601.3	NP_001774.1|NP_067612.1	P11912	CD79A_HUMAN	CD79a molecule, immunoglobulin-associated alpha	161					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)	B cell receptor complex (GO:0019815)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.T161M(1)		large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						GTGCCTGGGACGCTGCTGCTG	0.677			"""O, S"""		DLBCL																																		Dom	yes		19	19q13.2	973	"""CD79a molecule, immunoglobulin-associated alpha"""		L	1	Substitution - Missense(1)	ovary(1)	19											61.0	34.0	43.0					19																	42383707		2203	4299	6502	47075547	SO:0001583	missense	973			M80462	CCDS12589.1, CCDS46088.1	19q13.2	2014-09-17	2006-03-28					"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1698	protein-coding gene	gene with protein product		112205	"""CD79A antigen (immunoglobulin-associated alpha)"""	IGA		1538135	Standard	NM_001783		Approved	MB-1	uc002orv.3	P11912		ENST00000221972.3:c.482C>T	19.37:g.42383707C>T	ENSP00000221972:p.Thr161Met	Unknown		x	x	x	47075547	A0N775|Q53FB8	Missense_Mutation	SNP	ENST00000221972.3	37	CCDS12589.1	SNP	19	Broad	.	.	.	.	.	.	.	.	.	.	C	14.33	2.504239	0.44558	.	.	ENSG00000105369	ENST00000221972;ENST00000444740	T	0.78595	-1.19	3.81	3.81	0.43845	.	0.173532	0.38005	N	0.001843	T	0.80116	0.4564	L	0.34521	1.04	0.39459	D	0.967531	D;D	0.89917	1.0;1.0	D;D	0.71656	0.974;0.962	T	0.81604	-0.0857	10	0.59425	D	0.04	-16.4829	11.516	0.50522	0.0:1.0:0.0:0.0	.	161;123	P11912;A0N775	CD79A_HUMAN;.	M	161;123	ENSP00000221972:T161M	ENSP00000221972:T161M	T	+	2	0	CD79A	47075547	0.655000	0.27376	0.940000	0.37924	0.260000	0.26232	1.552000	0.36244	2.425000	0.82216	0.456000	0.33151	ACG		0.677	CD79A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463058.1			Missense_Mutation
ITPRIPL1	150771	broad.mit.edu	37	2	96992716	96992716	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1603-01	TCGA-24-1603-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-24-1603-01	TCGA-24-1603-10	g.chr2:96992716G>T	ENST00000439118.2	+	3	598	c.347G>T	c.(346-348)gGc>gTc	p.G116V	ITPRIPL1_ENST00000361124.4_Missense_Mutation_p.G124V|ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.G108V|ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.G108V	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	116						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.G124V(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGGAACACTGGCCTCTTTTGC	0.572																																																1	Substitution - Missense(1)	ovary(1)	2											116.0	124.0	121.0					2																	96992716		2203	4300	6503	96356443	SO:0001583	missense	150771				CCDS33250.1, CCDS46360.1, CCDS54378.1	2q11.2	2011-04-28	2011-04-28	2008-08-11	ENSG00000198885	ENSG00000198885			29371	protein-coding gene	gene with protein product			"""KIAA1754-like"", ""inositol 1,4,5-triphosphate receptor interacting protein-like 1"""	KIAA1754L		12477932	Standard	NM_178495		Approved		uc010yul.2	Q6GPH6	OTTHUMG00000155230	ENST00000439118.2:c.347G>T	2.37:g.96992716G>T	ENSP00000389308:p.Gly116Val	Unknown		x	x	x	96356443	F5H1L8|Q8NE61	Missense_Mutation	SNP	ENST00000439118.2	37	CCDS46360.1	SNP	42	Broad	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.626|6.626	0.483898|0.483898	0.12581|0.12581	.|.	.|.	ENSG00000198885|ENSG00000198885	ENST00000420728|ENST00000420176;ENST00000536814;ENST00000439118;ENST00000361124;ENST00000542887	.|T;T;T;T	.|0.15256	.|2.45;2.44;2.44;2.45	5.04|5.04	4.15|4.15	0.48705|0.48705	.|.	.|0.000000	.|0.38548	.|N	.|0.001652	T|T	0.10208|0.10208	0.0250|0.0250	N|N	0.14661|0.14661	0.345|0.345	0.58432|0.58432	D|D	0.999997|0.999997	.|B;B	.|0.15141	.|0.012;0.007	.|B;B	.|0.22601	.|0.04;0.018	T|T	0.13872|0.13872	-1.0493|-1.0493	5|10	.|0.13853	.|T	.|0.58	-15.9713|-15.9713	12.4784|12.4784	0.55827|0.55827	0.0:0.0:0.8315:0.1685|0.0:0.0:0.8315:0.1685	.|.	.|124;116	.|Q6GPH6-2;Q6GPH6	.|.;IPIL1_HUMAN	S|V	148|108;108;116;124;108	.|ENSP00000439566:G108V;ENSP00000389308:G116V;ENSP00000355121:G124V;ENSP00000438212:G108V	.|ENSP00000355121:G124V	A|G	+|+	1|2	0|0	ITPRIPL1|ITPRIPL1	96356443|96356443	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.423000|0.423000	0.31445|0.31445	4.634000|4.634000	0.61325|0.61325	1.325000|1.325000	0.45301|0.45301	0.655000|0.655000	0.94253|0.94253	GCC|GGC		0.572	ITPRIPL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338896.1	NM_178495		Missense_Mutation
CACNB4	785	broad.mit.edu	37	2	152695844	152695844	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1603-01	TCGA-24-1603-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-24-1603-01	TCGA-24-1603-10	g.chr2:152695844T>A	ENST00000539935.1	-	14	1419	c.1352A>T	c.(1351-1353)gAa>gTa	p.E451V	CACNB4_ENST00000201943.5_Missense_Mutation_p.E389V|CACNB4_ENST00000427385.1_Missense_Mutation_p.E433V|CACNB4_ENST00000534999.1_Missense_Mutation_p.E417V|CACNB4_ENST00000397327.2_Missense_Mutation_p.E404V|CACNB4_ENST00000360283.6_Missense_Mutation_p.E418V	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	451					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|cAMP metabolic process (GO:0046058)|cellular calcium ion homeostasis (GO:0006874)|detection of light stimulus involved in visual perception (GO:0050908)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|membrane depolarization (GO:0051899)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|neuronal action potential propagation (GO:0019227)|Peyer's patch development (GO:0048541)|regulation of voltage-gated calcium channel activity (GO:1901385)|spleen development (GO:0048536)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)|transport (GO:0006810)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.E451V(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	ACTTCGTCTTTCAATTGGAGA	0.408																																																1	Substitution - Missense(1)	ovary(1)	2											109.0	113.0	112.0					2																	152695844		2095	4249	6344	152404090	SO:0001583	missense	785			AF038852	CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1	2q22-q23	2009-09-04			ENSG00000182389	ENSG00000182389		"""Calcium channel subunits"""	1404	protein-coding gene	gene with protein product		601949				9628818	Standard	NM_000726		Approved	EJM4	uc002tya.3	O00305	OTTHUMG00000155091	ENST00000539935.1:c.1352A>T	2.37:g.152695844T>A	ENSP00000438949:p.Glu451Val	Unknown		x	x	x	152404090	A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40	Missense_Mutation	SNP	ENST00000539935.1	37	CCDS46426.1	SNP	62	Broad	.	.	.	.	.	.	.	.	.	.	T	18.65	3.668613	0.67814	.	.	ENSG00000182389	ENST00000539935;ENST00000360283;ENST00000543269;ENST00000439467;ENST00000534999;ENST00000397327;ENST00000427385;ENST00000201943;ENST00000339254	T;T;T;T;T;T;D	0.82619	-0.84;-0.83;-0.85;-0.82;-0.83;-0.84;-1.63	5.17	5.17	0.71159	.	0.108012	0.64402	D	0.000007	D	0.89770	0.6811	M	0.70275	2.135	0.80722	D	1	D;P;B;B	0.57899	0.981;0.546;0.321;0.449	D;B;B;B	0.67231	0.95;0.205;0.136;0.265	D	0.90935	0.4793	10	0.72032	D	0.01	-8.0402	14.9952	0.71425	0.0:0.0:0.0:1.0	.	389;451;433;417	A7BJ74;O00305;B4DG40;O00305-2	.;CACB4_HUMAN;.;.	V	451;418;346;446;417;404;433;389;452	ENSP00000438949:E451V;ENSP00000353425:E418V;ENSP00000390161:E446V;ENSP00000443893:E417V;ENSP00000380490:E404V;ENSP00000410978:E433V;ENSP00000201943:E389V	ENSP00000201943:E389V	E	-	2	0	CACNB4	152404090	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.624000	0.83124	1.943000	0.56356	0.377000	0.23210	GAA		0.408	CACNB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338385.4	NM_000726.3		Missense_Mutation
SNAI1	6615	broad.mit.edu	37	20	48604442	48604442	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1603-01	TCGA-24-1603-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-24-1603-01	TCGA-24-1603-10	g.chr20:48604442G>A	ENST00000244050.2	+	3	705	c.644G>A	c.(643-645)cGt>cAt	p.R215H		NM_005985.3	NP_005976.2	O95863	SNAI1_HUMAN	snail family zinc finger 1	215	Required for nuclear localization and interaction with KPNB1, NOTCH1 and PARP1.				cartilage morphogenesis (GO:0060536)|cell migration (GO:0016477)|epithelial to mesenchymal transition (GO:0001837)|hair follicle morphogenesis (GO:0031069)|left/right pattern formation (GO:0060972)|mesoderm formation (GO:0001707)|negative regulation of cell differentiation involved in embryonic placenta development (GO:0060806)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|Notch signaling involved in heart development (GO:0061314)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of tight junction assembly (GO:2000810)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	kinase binding (GO:0019900)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)	p.R215H(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			CACTGCAGCCGTGCCTTCGCT	0.632																																																1	Substitution - Missense(1)	ovary(1)	20											102.0	87.0	92.0					20																	48604442		2203	4300	6503	48037849	SO:0001583	missense	6615			AF125377	CCDS13423.1	20q13.2	2013-05-23	2013-05-23		ENSG00000124216	ENSG00000124216		"""Snail homologs"", ""Zinc fingers, C2H2-type"""	11128	protein-coding gene	gene with protein product		604238	"""snail 1 (drosophila homolog), zinc finger protein"", ""snail homolog 1 (Drosophila)"""			10585766	Standard	NM_005985		Approved	SNA, SLUGH2, SNAH, SNAIL1, SNAIL	uc002xuz.3	O95863	OTTHUMG00000033048	ENST00000244050.2:c.644G>A	20.37:g.48604442G>A	ENSP00000244050:p.Arg215His	Unknown		x	x	x	48037849	B2R842|Q9P113|Q9UBP7|Q9UHH7	Missense_Mutation	SNP	ENST00000244050.2	37	CCDS13423.1	SNP	40	Broad	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007739	0.75046	.	.	ENSG00000124216	ENST00000244050	T	0.19669	2.13	4.96	4.96	0.65561	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.48295	0.1492	M	0.69523	2.12	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.51434	-0.8706	10	0.87932	D	0	-31.9041	18.5926	0.91218	0.0:0.0:1.0:0.0	.	215	O95863	SNAI1_HUMAN	H	215	ENSP00000244050:R215H	ENSP00000244050:R215H	R	+	2	0	SNAI1	48037849	1.000000	0.71417	0.946000	0.38457	0.307000	0.27823	7.542000	0.82095	2.462000	0.83206	0.455000	0.32223	CGT		0.632	SNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080350.1			Missense_Mutation
GRIK1	2897	broad.mit.edu	37	21	31023550	31023550	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1603-01	TCGA-24-1603-10			C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Sequenom_PCR_WGA			Illumina GAIIx	TCGA-24-1603-01	TCGA-24-1603-10	g.chr21:31023550C>T	ENST00000399907.1	-	6	1253	c.842G>A	c.(841-843)cGg>cAg	p.R281Q	GRIK1_ENST00000389124.2_Missense_Mutation_p.R281Q|GRIK1_ENST00000309434.7_Missense_Mutation_p.R281Q|GRIK1_ENST00000327783.4_Missense_Mutation_p.R281Q|GRIK1_ENST00000399914.1_Missense_Mutation_p.R281Q|GRIK1_ENST00000535441.1_Missense_Mutation_p.R281Q|GRIK1_ENST00000399913.1_Missense_Mutation_p.R281Q|GRIK1_ENST00000389125.3_Missense_Mutation_p.R281Q|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399909.1_Missense_Mutation_p.R281Q	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	281				R -> G (in Ref. 2; AAA95961). {ECO:0000305}.	adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.R281Q(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	GTTAAGCAGCCGAAACCCGGT	0.468																																																1	Substitution - Missense(1)	ovary(1)	21											81.0	66.0	71.0					21																	31023550		2203	4300	6503	29945421	SO:0001583	missense	2897				CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.842G>A	21.37:g.31023550C>T	ENSP00000382791:p.Arg281Gln	Somatic		x	x	x	29945421	Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	CCDS42913.1	SNP	23	Broad	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212031	0.79240	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	D;D;D;D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	5.11	5.11	0.69529	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.90669	0.7073	M	0.82056	2.57	0.80722	D	1	D;D;D;D;D;D	0.89917	0.992;0.996;1.0;0.996;0.996;0.995	D;D;D;D;D;P	0.75020	0.945;0.91;0.985;0.91;0.91;0.854	D	0.87510	0.2439	10	0.19590	T	0.45	.	18.6736	0.91521	0.0:1.0:0.0:0.0	.	281;281;281;281;281;281	E7EPY9;E9PD61;E7EPZ0;B7Z3V7;P39086;P39086-2	.;.;.;.;GRIK1_HUMAN;.	Q	281;281;281;281;281;225;281;281;281;281	ENSP00000327687:R281Q;ENSP00000373777:R281Q;ENSP00000382797:R281Q;ENSP00000382798:R281Q;ENSP00000446326:R281Q;ENSP00000373776:R281Q;ENSP00000382791:R281Q;ENSP00000382793:R281Q;ENSP00000311646:R281Q	ENSP00000311646:R281Q	R	-	2	0	GRIK1	29945421	1.000000	0.71417	0.998000	0.56505	0.095000	0.18619	7.251000	0.78297	2.798000	0.96311	0.655000	0.94253	CGG		0.468	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			Missense_Mutation
WDR4	10785	broad.mit.edu	37	21	44270236	44270236	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1603-01	TCGA-24-1603-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-24-1603-01	TCGA-24-1603-10	g.chr21:44270236G>A	ENST00000398208.2	-	11	1221	c.1162C>T	c.(1162-1164)Cgg>Tgg	p.R388W	WDR4_ENST00000330317.2_Missense_Mutation_p.R388W|WDR4_ENST00000492742.1_5'UTR	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2			WD repeat domain 4									p.R388W(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		CTCCGGCGCCGCTGCTTCTTC	0.612																																																1	Substitution - Missense(1)	ovary(1)	21											70.0	77.0	75.0					21																	44270236		2203	4300	6503	43143305	SO:0001583	missense	10785			AJ243912	CCDS13691.1	21q22.3	2013-01-09			ENSG00000160193	ENSG00000160193		"""WD repeat domain containing"""	12756	protein-coding gene	gene with protein product	"""TRM82 tRNA methyltransferase 82 homolog (S. cerevisiae)"""	605924				12403464	Standard	NM_018669		Approved	TRM82, TRMT82	uc002zci.4	P57081	OTTHUMG00000086826	ENST00000398208.2:c.1162C>T	21.37:g.44270236G>A	ENSP00000381266:p.Arg388Trp	Unknown		x	x	x	43143305		Missense_Mutation	SNP	ENST00000398208.2	37	CCDS13691.1	SNP	38	Broad	.	.	.	.	.	.	.	.	.	.	G	16.97	3.268603	0.59540	.	.	ENSG00000160193	ENST00000330317;ENST00000398208	T;T	0.64438	-0.1;-0.1	4.41	3.42	0.39159	.	0.389060	0.22576	N	0.058265	T	0.62962	0.2471	L	0.59436	1.845	0.09310	N	1	D;D	0.71674	0.998;0.997	P;B	0.50754	0.649;0.446	T	0.57894	-0.7732	10	0.87932	D	0	-27.1503	8.3915	0.32531	0.0:0.0:0.629:0.371	.	387;388	P57081-2;P57081	.;WDR4_HUMAN	W	388	ENSP00000328671:R388W;ENSP00000381266:R388W	ENSP00000328671:R388W	R	-	1	2	WDR4	43143305	0.799000	0.28903	0.003000	0.11579	0.032000	0.12392	1.430000	0.34914	2.023000	0.59567	0.514000	0.50259	CGG		0.612	WDR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195479.1			Missense_Mutation
ADCY2	108	broad.mit.edu	37	5	7802364	7802364	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1603-01	TCGA-24-1603-10			G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Sequenom_PCR_WGA			Illumina GAIIx	TCGA-24-1603-01	TCGA-24-1603-10	g.chr5:7802364G>A	ENST00000338316.4	+	21	2751	c.2662G>A	c.(2662-2664)Gtc>Atc	p.V888I	ADCY2_ENST00000537121.1_Missense_Mutation_p.V708I	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	888					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.V888I(3)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CTGCGTCTGCGTCATGTTTGC	0.488																																																3	Substitution - Missense(3)	ovary(2)|large_intestine(1)	5											82.0	78.0	79.0					5																	7802364		2203	4300	6503	7855364	SO:0001583	missense	108			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2662G>A	5.37:g.7802364G>A	ENSP00000342952:p.Val888Ile	Somatic		x	x	x	7855364	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	CCDS3872.2	SNP	40	Broad	.	.	.	.	.	.	.	.	.	.	G	31	5.078655	0.94050	.	.	ENSG00000078295	ENST00000338316;ENST00000382532;ENST00000541993;ENST00000537121	T;T	0.80653	-1.4;-1.4	5.24	5.24	0.73138	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.87613	0.6221	L	0.52126	1.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.87987	0.2747	10	0.56958	D	0.05	.	18.8415	0.92186	0.0:0.0:1.0:0.0	.	708;888	B7Z2C1;Q08462	.;ADCY2_HUMAN	I	888;41;721;708	ENSP00000342952:V888I;ENSP00000444803:V708I	ENSP00000342952:V888I	V	+	1	0	ADCY2	7855364	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.506000	0.97992	2.447000	0.82792	0.591000	0.81541	GTC		0.488	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		Missense_Mutation
LNPEP	4012	broad.mit.edu	37	5	96328796	96328796	+	Silent	SNP	T	T	C			TCGA-24-1603-01	TCGA-24-1603-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-24-1603-01	TCGA-24-1603-10	g.chr5:96328796T>C	ENST00000231368.5	+	5	1901	c.1209T>C	c.(1207-1209)ttT>ttC	p.F403F	LNPEP_ENST00000395770.3_Silent_p.F389F	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	403					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.F403F(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)		TTCTTGAGTTTTTTCAAAACT	0.303																																																1	Substitution - coding silent(1)	ovary(1)	5											82.0	85.0	84.0					5																	96328796		2202	4299	6501	96354552	SO:0001819	synonymous_variant	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.1209T>C	5.37:g.96328796T>C		Unknown		x	x	x	96354552	O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Silent	SNP	ENST00000231368.5	37	CCDS4087.1	SNP	64	Broad																																																																																				0.303	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	NM_005575		Silent
DST	667	broad.mit.edu	37	6	56496755	56496755	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1603-01	TCGA-24-1603-10			G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Sequenom_PCR_WGA			Illumina GAIIx	TCGA-24-1603-01	TCGA-24-1603-10	g.chr6:56496755G>T	ENST00000361203.3	-	25	3263	c.3256C>A	c.(3256-3258)Ctg>Atg	p.L1086M	DST_ENST00000421834.2_Missense_Mutation_p.L1086M|DST_ENST00000370769.4_Missense_Mutation_p.L1086M|DST_ENST00000370788.2_Missense_Mutation_p.L1086M|DST_ENST00000370765.6_Missense_Mutation_p.L760M|DST_ENST00000518935.1_Missense_Mutation_p.L760M|DST_ENST00000446842.2_Missense_Mutation_p.L760M|DST_ENST00000244364.6_Missense_Mutation_p.L760M|DST_ENST00000312431.6_Missense_Mutation_p.L1086M|DST_ENST00000370754.5_Missense_Mutation_p.L1264M			Q03001	DYST_HUMAN	dystonin	1086					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.L1086M(1)|p.L760M(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGTCTAATCAGCCGATCTTCA	0.388																																																2	Substitution - Missense(2)	ovary(2)	6											110.0	108.0	109.0					6																	56496755		2203	4300	6503	56604714	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.3256C>A	6.37:g.56496755G>T	ENSP00000354508:p.Leu1086Met	Somatic		x	x	x	56604714	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		SNP	34	Broad	.	.	.	.	.	.	.	.	.	.	G	16.26	3.072191	0.55646	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	T;T;T;T;T;T;T;T;T;T;T;T	0.69306	0.8;0.8;0.8;0.8;0.8;0.8;0.8;-0.39;0.8;0.8;0.8;-0.02	5.84	-4.44	0.03557	.	0.000000	0.39146	N	0.001457	T	0.68311	0.2987	M	0.71581	2.175	0.30041	N	0.812588	D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;0.999;1.0;0.999	D;D;D;D;D;D;D;D	0.87578	0.963;0.996;0.963;0.99;0.996;0.998;0.963;0.983	T	0.74009	-0.3802	9	0.33940	T	0.23	.	16.3166	0.82930	0.408:0.0:0.592:0.0	.	1086;1086;1264;760;760;760;1086;760	Q5TBT1;E7ERU2;E9PEB9;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;DYST_HUMAN;.	M	760;1264;1086;1086;760;1086;1086;1086;760;1126;760;760	ENSP00000244364:L760M;ENSP00000359790:L1264M;ENSP00000359805:L1086M;ENSP00000400883:L1086M;ENSP00000393645:L760M;ENSP00000307959:L1086M;ENSP00000359824:L1086M;ENSP00000354508:L1086M;ENSP00000404924:L760M;ENSP00000431030:L1126M;ENSP00000359801:L760M;ENSP00000431003:L760M	ENSP00000244364:L760M	L	-	1	2	DST	56604714	0.319000	0.24607	0.079000	0.20413	0.971000	0.66376	0.839000	0.27586	-1.124000	0.02936	-0.229000	0.12294	CTG		0.388	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		Missense_Mutation
LATS1	9113	broad.mit.edu	37	6	150001524	150001524	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1603-01	TCGA-24-1603-10			G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Sequenom_PCR_WGA			Illumina GAIIx	TCGA-24-1603-01	TCGA-24-1603-10	g.chr6:150001524G>A	ENST00000543571.1	-	5	2627	c.2080C>T	c.(2080-2082)Cgt>Tgt	p.R694C	LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Missense_Mutation_p.R694C	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1									p.R694C(1)		central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		CTTTTAAGACGGATGTAATTA	0.353																																																1	Substitution - Missense(1)	ovary(1)	6											92.0	99.0	97.0					6																	150001524		2201	4299	6500	150043217	SO:0001583	missense	9113			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.2080C>T	6.37:g.150001524G>A	ENSP00000437550:p.Arg694Cys	Somatic		x	x	x	150043217		Missense_Mutation	SNP	ENST00000543571.1	37	CCDS34551.1	SNP	39	Broad	.	.	.	.	.	.	.	.	.	.	G	19.72	3.879905	0.72294	.	.	ENSG00000131023	ENST00000543571;ENST00000253339	T;T	0.68331	-0.32;-0.32	5.64	4.77	0.60923	Protein kinase-like domain (1);	0.112325	0.41001	D	0.000978	T	0.73984	0.3657	M	0.67517	2.055	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75808	-0.3187	9	.	.	.	.	14.8438	0.70246	0.0692:0.0:0.9308:0.0	.	694	O95835	LATS1_HUMAN	C	694	ENSP00000437550:R694C;ENSP00000253339:R694C	.	R	-	1	0	LATS1	150043217	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.582000	0.82546	1.523000	0.49018	0.557000	0.71058	CGT		0.353	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		Missense_Mutation
DNAH11	8701	broad.mit.edu	37	7	21788246	21788246	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1603-01	TCGA-24-1603-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-24-1603-01	TCGA-24-1603-10	g.chr7:21788246G>T	ENST00000409508.3	+	52	8590	c.8559G>T	c.(8557-8559)ttG>ttT	p.L2853F	DNAH11_ENST00000328843.6_Missense_Mutation_p.L2860F	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2860	AAA 4. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L2860F(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTGCTCTCTTGGTTGGAGTTG	0.562									Kartagener syndrome																																							1	Substitution - Missense(1)	ovary(1)	7											65.0	68.0	67.0					7																	21788246		1970	4153	6123	21754771	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.8559G>T	7.37:g.21788246G>T	ENSP00000475939:p.Leu2853Phe	Unknown		x	x	x	21754771	Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		SNP	47	Broad	.	.	.	.	.	.	.	.	.	.	G	12.97	2.097246	0.37048	.	.	ENSG00000105877	ENST00000328843	T	0.57752	0.38	6.06	1.48	0.22813	Dynein heavy chain, P-loop containing D4 domain (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.66954	0.2842	.	.	.	0.44042	D	0.996775	D	0.89917	1.0	D	0.97110	1.0	T	0.65005	-0.6273	9	0.87932	D	0	.	6.4408	0.21849	0.2605:0.1255:0.614:0.0	.	2860	Q96DT5	DYH11_HUMAN	F	2860	ENSP00000330671:L2860F	ENSP00000330671:L2860F	L	+	3	2	DNAH11	21754771	1.000000	0.71417	0.005000	0.12908	0.092000	0.18411	1.303000	0.33470	0.270000	0.21984	0.650000	0.86243	TTG		0.562	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		Missense_Mutation
DOCK4	9732	broad.mit.edu	37	7	111540571	111540571	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1603-01	TCGA-24-1603-10			C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Sequenom_PCR_WGA			Illumina GAIIx	TCGA-24-1603-01	TCGA-24-1603-10	g.chr7:111540571C>G	ENST00000437633.1	-	15	1595	c.1339G>C	c.(1339-1341)Ggg>Cgg	p.G447R	DOCK4_ENST00000428084.1_Missense_Mutation_p.G447R|DOCK4_ENST00000476846.1_5'UTR	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	447	DHR-1.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)	p.G435R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GGTGGCTCCCCAGAGCCGAAG	0.448																																																1	Substitution - Missense(1)	ovary(1)	7											62.0	60.0	61.0					7																	111540571		1894	4111	6005	111327807	SO:0001583	missense	9732				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.1339G>C	7.37:g.111540571C>G	ENSP00000404179:p.Gly447Arg	Somatic		x	x	x	111327807	O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	CCDS47688.1	SNP	21	Broad	.	.	.	.	.	.	.	.	.	.	C	32	5.145589	0.94603	.	.	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	T;T	0.15372	2.43;2.43	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.55705	0.1937	M	0.92122	3.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.64084	-0.6490	10	0.87932	D	0	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	447;447;447	Q149N2;Q149N5;Q8N1I0	.;.;DOCK4_HUMAN	R	435;447;447;435;446	ENSP00000410746:G447R;ENSP00000404179:G447R	ENSP00000345432:G435R	G	-	1	0	DOCK4	111327807	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.818000	0.86416	2.873000	0.98535	0.563000	0.77884	GGG		0.448	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		Missense_Mutation
SPTAN1	6709	broad.mit.edu	37	9	131386698	131386698	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1603-01	TCGA-24-1603-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-24-1603-01	TCGA-24-1603-10	g.chr9:131386698C>T	ENST00000372731.4	+	45	6019	c.5909C>T	c.(5908-5910)gCg>gTg	p.A1970V	SPTAN1_ENST00000372739.3_Missense_Mutation_p.A1975V|SPTAN1_ENST00000358161.5_Missense_Mutation_p.A1975V	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1970					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.A1970V(1)		NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CAGAGAAAGGCGAAGCTGGAT	0.547																																					NSCLC(120;833 1744 2558 35612 37579)											1	Substitution - Missense(1)	ovary(1)	9											79.0	65.0	70.0					9																	131386698		2203	4300	6503	130426519	SO:0001583	missense	6709			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.5909C>T	9.37:g.131386698C>T	ENSP00000361816:p.Ala1970Val	Unknown		x	x	x	130426519	Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	CCDS6905.1	SNP	27	Broad	.	.	.	.	.	.	.	.	.	.	C	35	5.448962	0.96205	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719;ENST00000372721	T;T;T	0.52526	0.66;0.66;0.66	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.59676	0.2211	L	0.55990	1.75	0.80722	D	1	P;D;P	0.69078	0.507;0.997;0.501	B;P;B	0.54499	0.036;0.754;0.076	T	0.61382	-0.7074	10	0.62326	D	0.03	.	19.5707	0.95413	0.0:1.0:0.0:0.0	.	1950;1975;1970	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	V	1975;1970;1975;1950;219	ENSP00000350882:A1975V;ENSP00000361816:A1970V;ENSP00000361824:A1975V	ENSP00000350882:A1975V	A	+	2	0	SPTAN1	130426519	1.000000	0.71417	0.963000	0.40424	0.981000	0.71138	7.445000	0.80570	2.709000	0.92574	0.655000	0.94253	GCG		0.547	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		Missense_Mutation
TSC1	7248	broad.mit.edu	37	9	135778139	135778139	+	Silent	SNP	C	C	T			TCGA-24-1603-01	TCGA-24-1603-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-24-1603-01	TCGA-24-1603-10	g.chr9:135778139C>T	ENST00000298552.3	-	18	2465	c.2244G>A	c.(2242-2244)caG>caA	p.Q748Q	TSC1_ENST00000440111.2_Silent_p.Q748Q|TSC1_ENST00000545250.1_Silent_p.Q697Q	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	748					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.Q748Q(1)|p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CCTTCCACATCTGGATGTCCT	0.448			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis		OREG0019577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"""E, O"""	2	Unknown(1)|Substitution - coding silent(1)	ovary(1)|bone(1)	9											215.0	185.0	195.0					9																	135778139		2203	4300	6503	134767960	SO:0001819	synonymous_variant	7248	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.2244G>A	9.37:g.135778139C>T		Unknown	1620	x	x	x	134767960	B7Z897|Q5VVN5	Silent	SNP	ENST00000298552.3	37	CCDS6956.1	SNP	32	Broad																																																																																				0.448	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1			Silent
KLHL4	56062	broad.mit.edu	37	X	86888775	86888775	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1603-01	TCGA-24-1603-10			T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	Sequenom_PCR_WGA			Illumina GAIIx	TCGA-24-1603-01	TCGA-24-1603-10	g.chrX:86888775T>A	ENST00000373119.4	+	8	1721	c.1576T>A	c.(1576-1578)Tat>Aat	p.Y526N	KLHL4_ENST00000373114.4_Missense_Mutation_p.Y526N	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	526						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.Y526N(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						AGGACCAATGTATGCTGTAGG	0.413																																																1	Substitution - Missense(1)	ovary(1)	X											116.0	95.0	102.0					X																	86888775		2203	4300	6503	86775431	SO:0001583	missense	56062			AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.1576T>A	X.37:g.86888775T>A	ENSP00000362211:p.Tyr526Asn	Somatic		x	x	x	86775431	B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	CCDS14457.1	SNP	57	Broad	.	.	.	.	.	.	.	.	.	.	T	21.7	4.187363	0.78789	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	D;D	0.91631	-2.88;-2.88	4.72	4.72	0.59763	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.97826	0.9286	H	0.99498	4.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.98438	1.0585	10	0.87932	D	0	.	12.4994	0.55948	0.0:0.0:0.0:1.0	.	526;526	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	N	526	ENSP00000362211:Y526N;ENSP00000362206:Y526N	ENSP00000362206:Y526N	Y	+	1	0	KLHL4	86775431	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.359000	0.79477	1.742000	0.51746	0.412000	0.27726	TAT		0.413	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			Missense_Mutation
TP53	7157	broad.mit.edu	37	17	7576900	7576901	+	Frame_Shift_Ins	INS	-	-	A			TCGA-24-1603-01	TCGA-24-1603-10			A	A	-	-	Unknown	Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-24-1603-01	TCGA-24-1603-10	g.chr17:7576900_7576901insA	ENST00000269305.4	-	9	1134_1135	c.945_946insT	c.(943-948)tctcccfs	p.P316fs	TP53_ENST00000455263.2_Frame_Shift_Ins_p.P316fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Frame_Shift_Ins_p.P316fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.P316fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.P316fs|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	316	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.		P -> L (in a sporadic cancer; somatic mutation).|P -> T (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.Q317fs*19(3)|p.S315fs*22(1)|p.?(1)|p.S314fs*25(1)|p.L308fs*15(1)|p.P316fs*21(1)|p.S315S(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)	TTTGGCTGGGGAGAGGAGCTGG	0.48		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"""	17	Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(1)|Substitution - coding silent(1)|Insertion - Frameshift(1)	ovary(5)|bone(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)	17																																								7517626	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.946dupT	17.37:g.7576901_7576901dupA	ENSP00000269305:p.Pro316fs	Somatic		Capture	Illumina GAIIx	Phase_I	7517625	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	41	Broad																																																																																				0.480	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		Frame_Shift_Ins
RNF213	57674	broad.mit.edu	37	17	78321089	78321089	+	Frame_Shift_Del	DEL	G	G	-			TCGA-24-1603-01	TCGA-24-1603-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-24-1603-01	TCGA-24-1603-10	g.chr17:78321089delG	ENST00000582970.1	+	29	9097	c.8954delG	c.(8953-8955)aggfs	p.R2985fs	RNF213_ENST00000508628.2_Frame_Shift_Del_p.R3034fs|RNF213_ENST00000336301.6_Frame_Shift_Del_p.R1058fs	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2985					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.N1059fs*32(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCTGTCCTTAGGAACTTCAGT	0.512																																																1	Deletion - Frameshift(1)	ovary(1)	17											38.0	37.0	38.0					17																	78321089		2203	4300	6503	75935684	SO:0001589	frameshift_variant	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.8954delG	17.37:g.78321089delG	ENSP00000464087:p.Arg2985fs	Unknown		Capture	Illumina GAIIx	Phase_I	75935684	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Frame_Shift_Del	DEL	ENST00000582970.1	37	CCDS58606.1	DEL	35	Broad																																																																																				0.512	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		Frame_Shift_Del
FAM47A	158724	broad.mit.edu	37	X	34149658	34149693	+	In_Frame_Del	DEL	ATGGGACACTCCAGTCTCTGGAGGCTCCGGGCGGAG	ATGGGACACTCCAGTCTCTGGAGGCTCCGGGCGGAG	-	rs367563899|rs201090915|rs201363312|rs373732464		TCGA-24-1603-01	TCGA-24-1603-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-24-1603-01	TCGA-24-1603-10	g.chrX:34149658_34149693delATGGGACACTCCAGTCTCTGGAGGCTCCGGGCGGAG	ENST00000346193.3	-	1	754_789	c.703_738delCTCCGCCCGGAGCCTCCAGAGACTGGAGTGTCCCAT	c.(703-738)ctccgcccggagcctccagagactggagtgtcccatdel	p.LRPEPPETGVSH235del		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	235	Pro-rich.							p.L235_H246delLRPEPPETGVSH(1)|p.P240P(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CCGGGCGGATATGGGACACTCCAGTCTCTGGAGGCTCCGGGCGGAGATGGGACACT	0.627														5	0.0013245	0.0	0.0	3775	,	,		15035	0.0		0.004	False		,,,				2504	0.001															2	Substitution - coding silent(1)|Deletion - In frame(1)	ovary(1)|lung(1)	X								33,3667		0,20,13,1562,523						-0.3	0.0			32	98,6373		2,62,32,2290,1731	no	coding	FAM47A	NM_203408.3		2,82,45,3852,2254	A1A1,A1R,A1,RR,R		1.5144,0.8919,1.288				131,10040				34059614	SO:0001651	inframe_deletion	158724			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.703_738delCTCCGCCCGGAGCCTCCAGAGACTGGAGTGTCCCAT	X.37:g.34149658_34149693delATGGGACACTCCAGTCTCTGGAGGCTCCGGGCGGAG	ENSP00000345029:p.Leu235_His246del	Unknown		Capture	Illumina GAIIx	Phase_I	34059579	A8K8I9|Q8TAA0	In_Frame_Del	DEL	ENST00000346193.3	37	CCDS43926.1	DEL	16	Broad																																																																																				0.627	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		In_Frame_Del
