#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_ORegAnno_bin	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
THRAP3	9967	broad.mit.edu	37	1	36755052	36755052	+	Missense_Mutation	SNP	C	C	A	rs200997715		TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr1:36755052C>A	ENST00000354618.5	+	5	1656	c.1432C>A	c.(1432-1434)Cct>Act	p.P478T	THRAP3_ENST00000469141.2_Missense_Mutation_p.P478T	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	478	Required for mRNA decay activity.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.P478T(1)		breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGTATATGCACCTCCAGGGAA	0.478			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)		Dom	yes		1	1p34.3	9967	thyroid hormone receptor associated protein 3 (TRAP150)		M	1	Substitution - Missense(1)	ovary(1)	1											67.0	75.0	72.0					1																	36755052		2203	4300	6503	36527639	SO:0001583	missense	9967			AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.1432C>A	1.37:g.36755052C>A	ENSP00000346634:p.Pro478Thr		36527639	D3DPS5|Q5VTK6	Missense_Mutation	SNP	ENST00000354618.5	37	CCDS405.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.267044	0.40095	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.10005	2.92;2.92	5.0	4.09	0.47781	.	0.150816	0.46758	D	0.000272	T	0.14830	0.0358	L	0.47716	1.5	0.25193	N	0.990116	P	0.50272	0.933	P	0.49829	0.623	T	0.08785	-1.0705	10	0.21540	T	0.41	-4.6916	12.2027	0.54335	0.0:0.9177:0.0:0.0823	.	478	Q9Y2W1	TR150_HUMAN	T	478	ENSP00000346634:P478T;ENSP00000433825:P478T	ENSP00000346634:P478T	P	+	1	0	THRAP3	36527639	1.000000	0.71417	0.402000	0.26371	0.978000	0.69477	2.338000	0.43957	1.110000	0.41699	0.655000	0.94253	CCT		0.478	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119	
KCNA10	3744	broad.mit.edu	37	1	111061276	111061276	+	Missense_Mutation	SNP	G	G	A			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr1:111061276G>A	ENST00000369771.2	-	1	521	c.134C>T	c.(133-135)tCc>tTc	p.S45F		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	45					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)	p.S45F(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	GTTGGAGAAGGAGCTGCCCCC	0.562																																																1	Substitution - Missense(1)	ovary(1)	1											57.0	62.0	61.0					1																	111061276		2203	4300	6503	110862799	SO:0001583	missense	3744			U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.134C>T	1.37:g.111061276G>A	ENSP00000358786:p.Ser45Phe		110862799		Missense_Mutation	SNP	ENST00000369771.2	37	CCDS826.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.889532	0.33348	.	.	ENSG00000143105	ENST00000369771	D	0.96856	-4.15	5.57	3.21	0.36854	.	.	.	.	.	D	0.87148	0.6105	L	0.38175	1.15	0.24435	N	0.994559	B	0.02656	0.0	B	0.01281	0.0	T	0.77854	-0.2433	9	0.59425	D	0.04	.	3.1549	0.06500	0.1668:0.0:0.57:0.2632	.	45	Q16322	KCA10_HUMAN	F	45	ENSP00000358786:S45F	ENSP00000358786:S45F	S	-	2	0	KCNA10	110862799	1.000000	0.71417	0.998000	0.56505	0.921000	0.55340	3.186000	0.50942	2.609000	0.88269	0.655000	0.94253	TCC		0.562	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	NM_005549	
GON4L	54856	broad.mit.edu	37	1	155726770	155726770	+	Silent	SNP	G	G	A			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr1:155726770G>A	ENST00000368331.1	-	27	5544	c.5496C>T	c.(5494-5496)atC>atT	p.I1832I	GON4L_ENST00000437809.1_Silent_p.I1832I|GON4L_ENST00000271883.5_Silent_p.I1832I	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1832					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.I1832I(1)		NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTTGGACCCCGATCTCTTTTT	0.438																																																1	Substitution - coding silent(1)	ovary(1)	1											114.0	110.0	111.0					1																	155726770		1861	4093	5954	153993394	SO:0001819	synonymous_variant	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.5496C>T	1.37:g.155726770G>A			153993394	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Silent	SNP	ENST00000368331.1	37																																																																																					0.438	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292	
FMN2	56776	broad.mit.edu	37	1	240351518	240351518	+	Missense_Mutation	SNP	G	G	C			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr1:240351518G>C	ENST00000319653.9	+	4	2172	c.1942G>C	c.(1942-1944)Gct>Cct	p.A648P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	648					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.A791P(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ATCTCAATCTGCTGTTTCAGA	0.343																																																1	Substitution - Missense(1)	ovary(1)	1											153.0	145.0	148.0					1																	240351518		2203	4300	6503	238418141	SO:0001583	missense	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1942G>C	1.37:g.240351518G>C	ENSP00000318884:p.Ala648Pro		238418141	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	7.912	0.736698	0.15574	.	.	ENSG00000155816	ENST00000447095;ENST00000319653	D;D	0.81821	-1.54;-1.54	4.64	2.7	0.31948	.	0.637618	0.14614	N	0.308852	T	0.72137	0.3423	L	0.59436	1.845	0.80722	D	1	P	0.45348	0.856	B	0.38803	0.282	T	0.71527	-0.4566	10	0.54805	T	0.06	.	4.8733	0.13644	0.1088:0.0:0.6685:0.2227	.	648	Q9NZ56	FMN2_HUMAN	P	85;648	ENSP00000409308:A85P;ENSP00000318884:A648P	ENSP00000318884:A648P	A	+	1	0	FMN2	238418141	1.000000	0.71417	0.999000	0.59377	0.491000	0.33493	1.013000	0.29937	1.241000	0.43820	0.561000	0.74099	GCT		0.343	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352	
ATM	472	broad.mit.edu	37	11	108199898	108199898	+	Nonsense_Mutation	SNP	C	C	T			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr11:108199898C>T	ENST00000452508.2	+	50	7429	c.7240C>T	c.(7240-7242)Caa>Taa	p.Q2414*	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Nonsense_Mutation_p.Q2414*			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2414	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.Q2414*(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TGAAAACAAGCAAGCTCTCCT	0.358			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	1	Substitution - Nonsense(1)	ovary(1)	11											77.0	75.0	76.0					11																	108199898		2201	4298	6499	107705108	SO:0001587	stop_gained	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.7240C>T	11.37:g.108199898C>T	ENSP00000388058:p.Gln2414*		107705108	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Nonsense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	49	15.217934	0.99826	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	.	.	.	5.54	5.54	0.83059	.	0.101830	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	19.4923	0.95056	0.0:1.0:0.0:0.0	.	.	.	.	X	2414	.	ENSP00000278616:Q2414X	Q	+	1	0	ATM	107705108	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.811000	0.86092	2.607000	0.88179	0.650000	0.86243	CAA		0.358	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
CD163L1	283316	broad.mit.edu	37	12	7585296	7585296	+	Missense_Mutation	SNP	T	T	C			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr12:7585296T>C	ENST00000313599.3	-	4	539	c.482A>G	c.(481-483)aAc>aGc	p.N161S	CD163L1_ENST00000416109.2_Missense_Mutation_p.N171S|CD163L1_ENST00000396630.1_Missense_Mutation_p.N161S			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	161	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.N161S(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ACAGGAGTTGTTTCCATCCAC	0.443																																																1	Substitution - Missense(1)	ovary(1)	12											88.0	83.0	85.0					12																	7585296		2203	4300	6503	7476563	SO:0001583	missense	283316			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.482A>G	12.37:g.7585296T>C	ENSP00000315945:p.Asn161Ser		7476563	B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	T	0.015	-1.544737	0.00934	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.32988	1.43;1.43;1.43	2.22	-4.45	0.03546	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.05410	0.0143	N	0.00738	-1.235	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.10800	-1.0614	9	0.02654	T	1	.	1.4854	0.02446	0.5027:0.1512:0.1266:0.2195	.	171;161	E7EVK4;Q9NR16	.;C163B_HUMAN	S	161;171;161	ENSP00000315945:N161S;ENSP00000393474:N171S;ENSP00000379871:N161S	ENSP00000315945:N161S	N	-	2	0	CD163L1	7476563	0.000000	0.05858	0.000000	0.03702	0.232000	0.25224	-6.914000	0.00049	-2.329000	0.00634	-0.313000	0.08912	AAC		0.443	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941	
ABCC9	10060	broad.mit.edu	37	12	21960393	21960393	+	Missense_Mutation	SNP	C	C	A			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr12:21960393C>A	ENST00000261201.4	-	36	4335	c.4336G>T	c.(4336-4338)Ggg>Tgg	p.G1446W	ABCC9_ENST00000345162.2_Missense_Mutation_p.G1410W|ABCC9_ENST00000261200.4_Missense_Mutation_p.G1446W	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1446	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.G1446W(1)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	AAATTCTCCCCACCTTCAGTG	0.413																																																1	Substitution - Missense(1)	ovary(1)	12											120.0	107.0	111.0					12																	21960393		2203	4300	6503	21851660	SO:0001583	missense	10060			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.4336G>T	12.37:g.21960393C>A	ENSP00000261201:p.Gly1446Trp		21851660	O60707	Missense_Mutation	SNP	ENST00000261201.4	37	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.649881	0.87958	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.96073	-3.9;-3.9;-3.9;-3.9	5.02	5.02	0.67125	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.98623	0.9539	H	0.97023	3.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99659	1.0993	10	0.87932	D	0	-13.841	18.5246	0.90967	0.0:1.0:0.0:0.0	.	1446;1446	O60706;O60706-2	ABCC9_HUMAN;.	W	1446;1073;1446;1410	ENSP00000261200:G1446W;ENSP00000440521:G1073W;ENSP00000261201:G1446W;ENSP00000261202:G1410W	ENSP00000261200:G1446W	G	-	1	0	ABCC9	21851660	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.534000	0.82004	2.585000	0.87301	0.561000	0.74099	GGG		0.413	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691	
PCED1B	91523	broad.mit.edu	37	12	47629950	47629950	+	Silent	SNP	C	C	T			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr12:47629950C>T	ENST00000546455.1	+	4	1835	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F	RP11-493L12.3_ENST00000547748.1_RNA|PCED1B_ENST00000432328.1_Silent_p.F368F			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	368	Pro-rich.						hydrolase activity (GO:0016787)	p.F368F(1)									CAGGTTTCTTCGTCGAAGACA	0.522																																																1	Substitution - coding silent(1)	ovary(1)	12											157.0	153.0	154.0					12																	47629950		2203	4300	6503	45916217	SO:0001819	synonymous_variant	91523			BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.1104C>T	12.37:g.47629950C>T			45916217	Q96B20	Silent	SNP	ENST00000546455.1	37	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	C	3.465	-0.109095	0.06924	.	.	ENSG00000179715	ENST00000330951	.	.	.	4.04	3.12	0.35913	.	.	.	.	.	T	0.44808	0.1311	.	.	.	0.09310	N	0.999991	.	.	.	.	.	.	T	0.37079	-0.9721	5	0.87932	D	0	-2.4687	9.0904	0.36607	0.2179:0.7821:0.0:0.0	.	.	.	.	L	212	.	ENSP00000328560:S212L	S	+	2	0	FAM113B	45916217	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.445000	0.21677	1.250000	0.43966	0.655000	0.94253	TCG		0.522	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371	
KRT4	3851	broad.mit.edu	37	12	53207429	53207429	+	Silent	SNP	G	G	A	rs377041915		TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr12:53207429G>A	ENST00000551956.1	-	1	906	c.414C>T	c.(412-414)cgC>cgT	p.R138R	KRT4_ENST00000293774.4_Silent_p.R212R|KRT4_ENST00000458244.2_Silent_p.R118R			P19013	K2C4_HUMAN	keratin 4	152	Head.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.R212R(1)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						TGATCTGTTCGCGCTCTTCCG	0.572													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18753	0.0		0.0	False		,,,				2504	0.0				Pancreas(190;284 2995 41444 45903)											1	Substitution - coding silent(1)	ovary(1)	12						G		0,4406		0,0,2203	160.0	167.0	165.0		414	-9.8	0.0	12		165	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KRT4	NM_002272.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		138/521	53207429	1,13005	2203	4300	6503	51493696	SO:0001819	synonymous_variant	3851				CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.414C>T	12.37:g.53207429G>A			51493696	F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Silent	SNP	ENST00000551956.1	37	CCDS41787.2																																																																																				0.572	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272	
KRT8	3856	broad.mit.edu	37	12	53293652	53293652	+	Silent	SNP	G	G	A	rs369468722		TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr12:53293652G>A	ENST00000552551.1	-	6	1320	c.888C>T	c.(886-888)caC>caT	p.H296H	KRT8_ENST00000546897.1_Silent_p.H296H|KRT8_ENST00000293308.6_Silent_p.H296H|KRT8_ENST00000552150.1_Silent_p.H324H			P05787	K2C8_HUMAN	keratin 8	296	Coil 2.|Necessary for interaction with PNN.|Rod.				cell differentiation involved in embryonic placenta development (GO:0060706)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatocyte apoptotic process (GO:0097284)|response to hydrostatic pressure (GO:0051599)|response to other organism (GO:0051707)|sarcomere organization (GO:0045214)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)	p.H296H(1)		endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Tenecteplase(DB00031)	GGTCATCCCCGTGCTTCCCAG	0.582																																																1	Substitution - coding silent(1)	ovary(1)	12						G		0,4406		0,0,2203	37.0	36.0	37.0		888	-0.7	1.0	12		37	1,8599		0,1,4299	no	coding-synonymous	KRT8	NM_002273.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		296/484	53293652	1,13005	2203	4300	6503	51579919	SO:0001819	synonymous_variant	3856			BC000654	CCDS8841.1, CCDS58234.1	12q13.13	2013-01-16			ENSG00000170421	ENSG00000170421		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6446	protein-coding gene	gene with protein product		148060				2434381, 1705144, 16831889	Standard	NM_002273		Approved	CARD2, K8, CK8, CYK8, K2C8, KO	uc009zmk.1	P05787	OTTHUMG00000169881	ENST00000552551.1:c.888C>T	12.37:g.53293652G>A			51579919	A8K4H3|B0AZN5|F8VXB4|Q14099|Q14716|Q14717|Q53GJ0|Q6DHW5|Q6GMY0|Q6P4C7|Q96J60	Silent	SNP	ENST00000552551.1	37	CCDS8841.1																																																																																				0.582	KRT8-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406385.1	NM_002273	
IQCD	115811	broad.mit.edu	37	12	113645405	113645405	+	Silent	SNP	C	C	T			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr12:113645405C>T	ENST00000416617.2	-	2	757	c.567G>A	c.(565-567)gaG>gaA	p.E189E	IQCD_ENST00000299732.2_Silent_p.E189E|IQCD_ENST00000546692.1_Silent_p.E189E			Q96DY2	IQCD_HUMAN	IQ motif containing D	189								p.E189E(1)		endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						AACCACGGAGCTCTATCAGGC	0.478																																																1	Substitution - coding silent(1)	ovary(1)	12											100.0	95.0	97.0					12																	113645405		2203	4300	6503	112129788	SO:0001819	synonymous_variant	115811			BC013151	CCDS9167.1	12q24.21	2014-07-18				ENSG00000166578			25168	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 10"""					23427265, 24804578	Standard	NM_138451		Approved	DRC10, CFAP84	uc001tuu.3	Q96DY2		ENST00000416617.2:c.567G>A	12.37:g.113645405C>T			112129788	Q6ZSU0	Silent	SNP	ENST00000416617.2	37																																																																																					0.478	IQCD-004	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000405327.1	NM_138451	
RNF6	6049	broad.mit.edu	37	13	26789649	26789649	+	Missense_Mutation	SNP	T	T	C			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr13:26789649T>C	ENST00000381588.4	-	5	1122	c.370A>G	c.(370-372)Act>Gct	p.T124A	RNF6_ENST00000346166.3_Missense_Mutation_p.T124A|RNF6_ENST00000468480.1_5'UTR|RNF6_ENST00000399762.2_Silent_p.Q2Q|RNF6_ENST00000381570.3_Missense_Mutation_p.T124A	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	124					negative regulation of axon extension (GO:0030517)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K27-linked ubiquitination (GO:0044314)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T124A(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		CCACTTCGAGTTGCATTTCCT	0.428																																																1	Substitution - Missense(1)	ovary(1)	13											89.0	68.0	75.0					13																	26789649		2203	4300	6503	25687649	SO:0001583	missense	6049			AJ010346	CCDS9316.1	13q12.2	2013-01-09			ENSG00000127870	ENSG00000127870		"""RING-type (C3HC4) zinc fingers"""	10069	protein-coding gene	gene with protein product	"""RING-H2 protein RNF-6"""	604242				10331950	Standard	NM_005977		Approved	DKFZp686P0776	uc001uqq.3	Q9Y252	OTTHUMG00000016614	ENST00000381588.4:c.370A>G	13.37:g.26789649T>C	ENSP00000371000:p.Thr124Ala		25687649	B4DDP0|Q5W0H0|Q9BZP5|Q9UF41	Missense_Mutation	SNP	ENST00000381588.4	37	CCDS9316.1	.	.	.	.	.	.	.	.	.	.	T	17.41	3.382376	0.61845	.	.	ENSG00000127870	ENST00000346166;ENST00000381588;ENST00000381570	T;T;T	0.15718	2.4;2.4;2.4	4.59	3.4	0.38934	.	0.063660	0.64402	D	0.000008	T	0.20981	0.0505	M	0.77313	2.365	0.80722	D	1	P;B	0.44690	0.841;0.433	B;B	0.38842	0.283;0.269	T	0.04467	-1.0949	10	0.87932	D	0	-6.2458	10.1071	0.42539	0.0:0.0795:0.0:0.9205	.	124;124	Q9Y252;Q9BZP5	RNF6_HUMAN;.	A	124	ENSP00000342121:T124A;ENSP00000371000:T124A;ENSP00000370982:T124A	ENSP00000342121:T124A	T	-	1	0	RNF6	25687649	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	5.815000	0.69215	0.792000	0.33850	0.455000	0.32223	ACT		0.428	RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044246.2	NM_005977	
OR11G2	390439	broad.mit.edu	37	14	20665969	20665969	+	Missense_Mutation	SNP	G	G	C			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr14:20665969G>C	ENST00000357366.3	+	1	475	c.475G>C	c.(475-477)Gat>Cat	p.D159H		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D159H(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TATGGCATTTGATCGATACCT	0.463																																																1	Substitution - Missense(1)	ovary(1)	14											91.0	82.0	85.0					14																	20665969		2203	4300	6503	19735809	SO:0001583	missense	390439				CCDS32032.1	14q11.2	2013-09-24			ENSG00000196832	ENSG00000196832		"""GPCR / Class A : Olfactory receptors"""	15346	protein-coding gene	gene with protein product							Standard	NM_001005503		Approved		uc010tlb.2	Q8NGC1	OTTHUMG00000167700	ENST00000357366.3:c.475G>C	14.37:g.20665969G>C	ENSP00000349930:p.Asp159His		19735809	Q6IF09|Q96R33	Missense_Mutation	SNP	ENST00000357366.3	37	CCDS32032.1	.	.	.	.	.	.	.	.	.	.	g	21.4	4.140399	0.77775	.	.	ENSG00000196832	ENST00000357366	T	0.18338	2.22	4.93	4.93	0.64822	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000138	T	0.55784	0.1942	H	0.95780	3.72	0.44417	D	0.997332	D	0.89917	1.0	D	0.97110	1.0	T	0.70572	-0.4835	10	0.87932	D	0	.	17.0842	0.86606	0.0:0.0:1.0:0.0	.	159	Q8NGC1	O11G2_HUMAN	H	159	ENSP00000349930:D159H	ENSP00000349930:D159H	D	+	1	0	OR11G2	19735809	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.429000	0.97481	2.565000	0.86533	0.650000	0.86243	GAT		0.463	OR11G2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395722.1		
PRKD1	5587	broad.mit.edu	37	14	30107928	30107928	+	Silent	SNP	C	C	G			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr14:30107928C>G	ENST00000331968.5	-	5	1108	c.879G>C	c.(877-879)ggG>ggC	p.G293G	PRKD1_ENST00000415220.2_Silent_p.G301G|PRKD1_ENST00000551644.1_5'UTR	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	293					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.G293G(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GCCTGAAAAGCCCCTTCAGAA	0.458																																																2	Substitution - coding silent(2)	ovary(2)	14											60.0	55.0	57.0					14																	30107928		2203	4300	6503	29177679	SO:0001819	synonymous_variant	5587				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.879G>C	14.37:g.30107928C>G			29177679	A6NL64|B2RAF6	Silent	SNP	ENST00000331968.5	37	CCDS9637.1																																																																																				0.458	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742	
SERPINA3	12	broad.mit.edu	37	14	95090124	95090124	+	Missense_Mutation	SNP	C	C	G			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr14:95090124C>G	ENST00000467132.1	+	5	2393	c.1245C>G	c.(1243-1245)agC>agG	p.S415R	SERPINA3_ENST00000393080.4_Missense_Mutation_p.S415R|RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000482740.1_Missense_Mutation_p.S197R|SERPINA3_ENST00000393078.3_Missense_Mutation_p.S415R			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	415					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.S415R(1)		NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		TCTTCATGAGCAAAGTCACCA	0.507																																																1	Substitution - Missense(1)	ovary(1)	14											166.0	146.0	153.0					14																	95090124		2203	4300	6503	94159877	SO:0001583	missense	12			K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136		"""Serine (or cysteine) peptidase inhibitors"""	16	protein-coding gene	gene with protein product		107280	"""alpha-1-antichymotrypsin"", ""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"""	AACT		3260956, 24172014	Standard	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	ENST00000467132.1:c.1245C>G	14.37:g.95090124C>G	ENSP00000450540:p.Ser415Arg		94159877	B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Missense_Mutation	SNP	ENST00000467132.1	37	CCDS32150.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.495725	0.44352	.	.	ENSG00000196136	ENST00000553947;ENST00000393078;ENST00000393080;ENST00000467132;ENST00000482740	D;D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27;-2.27	4.99	3.04	0.35103	Serpin domain (3);	0.652042	0.14557	N	0.312326	T	0.79986	0.4541	L	0.31926	0.97	0.28152	N	0.929343	B;P	0.50710	0.358;0.938	B;B	0.42282	0.378;0.382	T	0.74702	-0.3576	10	0.62326	D	0.03	.	9.1458	0.36933	0.2206:0.6465:0.1329:0.0	.	415;440	P01011;G3V5I3	AACT_HUMAN;.	R	440;415;415;415;197	ENSP00000452367:S440R;ENSP00000376793:S415R;ENSP00000376795:S415R;ENSP00000450540:S415R;ENSP00000451119:S197R	ENSP00000376793:S415R	S	+	3	2	SERPINA3	94159877	0.086000	0.21541	0.027000	0.17364	0.008000	0.06430	-0.584000	0.05800	2.460000	0.83146	0.563000	0.77884	AGC		0.507	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268080.3	NM_001085	
ZKSCAN2	342357	broad.mit.edu	37	16	25258105	25258105	+	Missense_Mutation	SNP	T	T	A			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr16:25258105T>A	ENST00000328086.7	-	5	2215	c.1412A>T	c.(1411-1413)gAt>gTt	p.D471V		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	471					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.D471V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TTCATCATCATCAGAATCTTC	0.453																																																1	Substitution - Missense(1)	ovary(1)	16											152.0	139.0	143.0					16																	25258105		2197	4300	6497	25165606	SO:0001583	missense	342357			AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.1412A>T	16.37:g.25258105T>A	ENSP00000331626:p.Asp471Val		25165606	A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	37	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	T	18.36	3.607969	0.66558	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.09911	2.93	5.57	4.48	0.54585	.	0.084342	0.51477	D	0.000089	T	0.14960	0.0361	M	0.64997	1.995	0.58432	D	0.999993	P;B;P	0.41313	0.535;0.063;0.745	B;B;B	0.42959	0.403;0.022;0.403	T	0.01056	-1.1466	10	0.87932	D	0	-15.5771	8.589	0.33674	0.0:0.0876:0.0:0.9124	.	267;471;471	B4DYF0;Q63HK3-2;Q63HK3	.;.;ZKSC2_HUMAN	V	471	ENSP00000331626:D471V	ENSP00000331626:D471V	D	-	2	0	ZKSCAN2	25165606	1.000000	0.71417	0.864000	0.33941	0.981000	0.71138	2.508000	0.45450	1.043000	0.40175	0.533000	0.62120	GAT		0.453	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981	
PHKB	5257	broad.mit.edu	37	16	47623001	47623001	+	Silent	SNP	A	A	G			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr16:47623001A>G	ENST00000323584.5	+	10	1080	c.1056A>G	c.(1054-1056)ccA>ccG	p.P352P	PHKB_ENST00000567402.1_3'UTR|PHKB_ENST00000566044.1_Silent_p.P345P|PHKB_ENST00000455779.1_Silent_p.P345P|PHKB_ENST00000299167.8_Silent_p.P352P	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	352					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.P352P(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				ACTACAAGCCAGCTGAAATTA	0.358																																																1	Substitution - coding silent(1)	ovary(1)	16											55.0	59.0	58.0					16																	47623001		2201	4300	6501	46180502	SO:0001819	synonymous_variant	5257				CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.1056A>G	16.37:g.47623001A>G			46180502	Q8N4T5	Silent	SNP	ENST00000323584.5	37	CCDS10729.1																																																																																				0.358	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1		
CDH3	1001	broad.mit.edu	37	16	68725811	68725811	+	Missense_Mutation	SNP	G	G	A	rs372221192		TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr16:68725811G>A	ENST00000264012.4	+	13	2528	c.1984G>A	c.(1984-1986)Gct>Act	p.A662T	CDH3_ENST00000581171.1_Missense_Mutation_p.A607T|CDH3_ENST00000429102.2_Missense_Mutation_p.A662T	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	662					adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)|p.A662T(1)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TGTGCTGGGGGCTGTCCTGGC	0.602																																																3	Unknown(2)|Substitution - Missense(1)	breast(2)|ovary(1)	16						G	THR/ALA	0,4396		0,0,2198	75.0	65.0	68.0		1984	4.6	1.0	16		68	2,8598	2.2+/-6.3	0,2,4298	no	missense	CDH3	NM_001793.4	58	0,2,6496	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	662/830	68725811	2,12994	2198	4300	6498	67283312	SO:0001583	missense	1001			X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"""Cadherins / Major cadherins"""	1762	protein-coding gene	gene with protein product		114021	"""cadherin 3, P-cadherin (placental)"""			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.1984G>A	16.37:g.68725811G>A	ENSP00000264012:p.Ala662Thr		67283312	B2R6F4|Q05DI6	Missense_Mutation	SNP	ENST00000264012.4	37	CCDS10868.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.267518	0.40095	0.0	2.33E-4	ENSG00000062038	ENST00000429102;ENST00000264012;ENST00000542274	T;T	0.61392	0.11;0.19	5.61	4.64	0.57946	.	0.000000	0.39341	N	0.001391	T	0.61261	0.2333	M	0.67953	2.075	0.33056	D	0.533474	D	0.55172	0.97	P	0.52066	0.689	T	0.71623	-0.4537	10	0.54805	T	0.06	.	6.7932	0.23711	0.0874:0.0:0.7358:0.1769	.	662	P22223	CADH3_HUMAN	T	662;662;607	ENSP00000398485:A662T;ENSP00000264012:A662T	ENSP00000264012:A662T	A	+	1	0	CDH3	67283312	0.914000	0.31030	0.996000	0.52242	0.887000	0.51463	3.806000	0.55583	2.804000	0.96469	0.462000	0.41574	GCT		0.602	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793	
TLDC1	57707	broad.mit.edu	37	16	84520435	84520435	+	Missense_Mutation	SNP	T	T	C			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr16:84520435T>C	ENST00000343629.6	-	5	942	c.760A>G	c.(760-762)Atc>Gtc	p.I254V	TLDC1_ENST00000535580.1_Missense_Mutation_p.I227V|TLDC1_ENST00000561807.1_5'Flank	NM_020947.3	NP_065998.3	Q6P9B6	TLDC1_HUMAN	TBC/LysM-associated domain containing 1	254						lysosomal membrane (GO:0005765)		p.I254V(1)									TGGGCGTTGATGTACATGACA	0.592																																																1	Substitution - Missense(1)	ovary(1)	16											50.0	47.0	48.0					16																	84520435		2200	4300	6500	83077936	SO:0001583	missense	57707			AB046829	CCDS32498.1	16q24.1	2013-03-14	2013-03-14	2013-03-14	ENSG00000140950	ENSG00000140950			29325	protein-coding gene	gene with protein product	"""TLD domain containing 1"""		"""KIAA1609"""	KIAA1609		10997877	Standard	NM_020947		Approved		uc002fib.3	Q6P9B6	OTTHUMG00000176739	ENST00000343629.6:c.760A>G	16.37:g.84520435T>C	ENSP00000343635:p.Ile254Val		83077936	Q8IZ64|Q9HCG3|Q9NTE8	Missense_Mutation	SNP	ENST00000343629.6	37	CCDS32498.1	.	.	.	.	.	.	.	.	.	.	T	0.499	-0.871889	0.02570	.	.	ENSG00000140950	ENST00000343629;ENST00000535580	T;T	0.11277	2.97;2.79	5.32	-10.6	0.00265	TLDc (1);	0.663223	0.15746	N	0.246675	T	0.04452	0.0122	N	0.17474	0.49	0.18873	N	0.999988	B;B	0.12630	0.004;0.006	B;B	0.14578	0.003;0.011	T	0.17289	-1.0374	10	0.23891	T	0.37	-7.6553	10.8726	0.46891	0.0:0.1944:0.3892:0.4164	.	227;254	F5GWS3;Q6P9B6	.;K1609_HUMAN	V	254;227	ENSP00000343635:I254V;ENSP00000441997:I227V	ENSP00000343635:I254V	I	-	1	0	KIAA1609	83077936	0.042000	0.20092	0.000000	0.03702	0.003000	0.03518	-1.437000	0.02419	-3.367000	0.00178	-0.242000	0.12053	ATC		0.592	TLDC1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433421.1	NM_020947	
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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"""	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	17	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50.0	50.0	50.0					17																	7578406		2203	4300	6503	7519131	SO:0001583	missense	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His		7519131	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
NCOR1	9611	broad.mit.edu	37	17	15995294	15995294	+	Missense_Mutation	SNP	T	T	C			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr17:15995294T>C	ENST00000268712.3	-	22	3156	c.2899A>G	c.(2899-2901)Atg>Gtg	p.M967V	NCOR1_ENST00000395851.1_Missense_Mutation_p.M983V|NCOR1_ENST00000395848.1_Missense_Mutation_p.M874V	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	967					CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.M967V(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GACTCATGCATTGCTTTAATG	0.468																																																1	Substitution - Missense(1)	ovary(1)	17											148.0	139.0	142.0					17																	15995294		2203	4300	6503	15936019	SO:0001583	missense	9611			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.2899A>G	17.37:g.15995294T>C	ENSP00000268712:p.Met967Val		15936019	B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	T	8.428	0.848041	0.17034	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395848	T;T;T	0.32515	1.45;1.45;1.45	5.26	4.18	0.49190	.	0.182247	0.64402	N	0.000011	T	0.19886	0.0478	L	0.36672	1.1	0.80722	D	1	B;B;B;B	0.14012	0.007;0.009;0.0;0.0	B;B;B;B	0.14023	0.01;0.005;0.0;0.001	T	0.07102	-1.0790	10	0.02654	T	1	-10.7357	10.6099	0.45415	0.0:0.0762:0.0:0.9237	.	874;874;967;983	E9PGV6;Q7Z516;O75376;O75376-2	.;.;NCOR1_HUMAN;.	V	967;983;874;874	ENSP00000268712:M967V;ENSP00000379192:M983V;ENSP00000379189:M874V	ENSP00000268712:M967V	M	-	1	0	NCOR1	15936019	0.999000	0.42202	0.967000	0.41034	0.993000	0.82548	4.285000	0.58989	0.926000	0.37118	-0.297000	0.09499	ATG		0.468	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311	
CACNA1A	773	broad.mit.edu	37	19	13341003	13341003	+	Silent	SNP	G	G	A	rs372359926		TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr19:13341003G>A	ENST00000360228.5	-	36	5420	c.5421C>T	c.(5419-5421)gcC>gcT	p.A1807A	CACNA1A_ENST00000573710.2_Silent_p.A1808A|CACNA1A_ENST00000574822.1_5'UTR	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1808					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)	p.A1808A(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CCATGATGACGGCGACAAAGA	0.577																																																1	Substitution - coding silent(1)	ovary(1)	19						G	,,,,	0,4184		0,0,2092	88.0	95.0	93.0		5439,5424,5421,5430,5439	-2.2	0.9	19		93	1,8493		0,1,4246	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CACNA1A	NM_000068.3,NM_001127221.1,NM_001127222.1,NM_001174080.1,NM_023035.2	,,,,	0,1,6338	AA,AG,GG		0.0118,0.0,0.0079	,,,,	1813/2267,1808/2262,1807/2507,1810/2264,1813/2513	13341003	1,12677	2092	4247	6339	13202003	SO:0001819	synonymous_variant	773			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.5421C>T	19.37:g.13341003G>A			13202003	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	CCDS45998.1																																																																																				0.577	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068	
RYR1	6261	broad.mit.edu	37	19	38980779	38980779	+	Missense_Mutation	SNP	G	G	T			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr19:38980779G>T	ENST00000359596.3	+	36	5878	c.5878G>T	c.(5878-5880)Gcc>Tcc	p.A1960S	RYR1_ENST00000360985.3_Missense_Mutation_p.A1960S|RYR1_ENST00000355481.4_Missense_Mutation_p.A1960S			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1960	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.A1960S(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GTCCCTGGCAGCCTTTGCGGA	0.592																																																1	Substitution - Missense(1)	ovary(1)	19											67.0	58.0	61.0					19																	38980779		2203	4300	6503	43672619	SO:0001583	missense	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5878G>T	19.37:g.38980779G>T	ENSP00000352608:p.Ala1960Ser		43672619	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492374	0.64074	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.72615	-0.67;-0.67;-0.67	4.61	4.61	0.57282	.	0.000000	0.64402	U	0.000005	T	0.61689	0.2367	L	0.46157	1.445	0.45747	D	0.998649	P;P	0.46784	0.884;0.816	B;B	0.39152	0.292;0.152	T	0.62964	-0.6742	10	0.32370	T	0.25	.	13.3985	0.60868	0.0:0.0:0.8422:0.1578	.	1960;1960	P21817-2;P21817	.;RYR1_HUMAN	S	1960	ENSP00000352608:A1960S;ENSP00000347667:A1960S;ENSP00000354254:A1960S	ENSP00000347667:A1960S	A	+	1	0	RYR1	43672619	1.000000	0.71417	0.990000	0.47175	0.991000	0.79684	4.508000	0.60441	2.365000	0.80145	0.557000	0.71058	GCC		0.592	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
PSG7	5676	broad.mit.edu	37	19	43433693	43433693	+	RNA	SNP	G	G	T			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr19:43433693G>T	ENST00000406070.2	-	0	706				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				ACACCAAATAGGTAGAGGGTC	0.522																																																0			19											293.0	300.0	297.0					19																	43433693		2201	4300	6501	48125533			5676					19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43433693G>T			48125533	Q15232	Missense_Mutation	SNP	ENST00000406070.2	37																																																																																					0.522	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650	
KIR3DL1	3811	broad.mit.edu	37	19	55331398	55331398	+	Missense_Mutation	SNP	T	T	G			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr19:55331398T>G	ENST00000391728.4	+	4	619	c.586T>G	c.(586-588)Tac>Gac	p.Y196D	KIR3DL1_ENST00000326542.7_Missense_Mutation_p.Y196D|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.Y196D|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.Y196D|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.Y196D|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.Y101D	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	196	Ig-like C2-type 2.				immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.Y196D(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CTACAGATGCTACGGTTCTGT	0.542																																																1	Substitution - Missense(1)	ovary(1)	19											201.0	170.0	180.0					19																	55331398		2186	4160	6346	60023210	SO:0001583	missense	3811			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.586T>G	19.37:g.55331398T>G	ENSP00000375608:p.Tyr196Asp		60023210	O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000391728.4	37	CCDS42621.1	.	.	.	.	.	.	.	.	.	.	-	11.58	1.682043	0.29872	.	.	ENSG00000167633	ENST00000402254;ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542;ENST00000358178	T;T;T;T;T;T	0.03242	4.0;4.0;4.0;4.0;4.0;4.0	1.44	1.44	0.22558	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.595647	0.12643	U	0.451139	T	0.24586	0.0596	H	0.97315	3.98	0.09310	N	1	D;D;D;D	0.89917	0.996;1.0;1.0;1.0	D;D;D;D	0.97110	0.952;1.0;1.0;0.998	T	0.06285	-1.0835	10	0.87932	D	0	.	5.0308	0.14409	0.0:0.0:0.0:1.0	.	196;101;196;196	Q15702;Q14946;F6QF33;P43629	.;.;.;KI3L1_HUMAN	D	196;196;196;174;196;196;101	ENSP00000384528:Y196D;ENSP00000443350:Y196D;ENSP00000442355:Y196D;ENSP00000375608:Y196D;ENSP00000326868:Y196D;ENSP00000350901:Y101D	ENSP00000326868:Y196D	Y	+	1	0	KIR3DL1	60023210	0.029000	0.19370	0.099000	0.21106	0.011000	0.07611	0.369000	0.20416	0.939000	0.37446	0.155000	0.16302	TAC		0.542	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289	
PXDN	7837	broad.mit.edu	37	2	1670193	1670193	+	Missense_Mutation	SNP	C	C	G			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr2:1670193C>G	ENST00000252804.4	-	10	1134	c.1084G>C	c.(1084-1086)Gag>Cag	p.E362Q	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	362	Ig-like C2-type 2.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GCGCTGCACTCCAGCGTGACG	0.567																																																0			2											26.0	30.0	29.0					2																	1670193		2033	4174	6207	1649200	SO:0001583	missense	7837			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.1084G>C	2.37:g.1670193C>G	ENSP00000252804:p.Glu362Gln		1649200	A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	CCDS46221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.3|28.3	4.912524|4.912524	0.92178|0.92178	.|.	.|.	ENSG00000130508|ENSG00000130508	ENST00000252804|ENST00000433670	T|.	0.68181|.	-0.31|.	5.09|5.09	5.09|5.09	0.68999|0.68999	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.055329|.	0.64402|.	D|.	0.000001|.	T|T	0.51924|0.51924	0.1703|0.1703	N|N	0.20445|0.20445	0.575|0.575	0.51767|0.51767	D|D	0.999935|0.999935	P;D|.	0.67145|.	0.861;0.996|.	P;D|.	0.70016|.	0.73;0.967|.	T|T	0.48210|0.48210	-0.9055|-0.9055	10|5	0.54805|.	T|.	0.06|.	-42.7642|-42.7642	16.6763|16.6763	0.85280|0.85280	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	362;362|.	Q92626-2;Q92626|.	.;PXDN_HUMAN|.	Q|C	362|357	ENSP00000252804:E362Q|.	ENSP00000252804:E362Q|.	E|W	-|-	1|3	0|0	PXDN|PXDN	1649200|1649200	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.905000|0.905000	0.53344|0.53344	7.744000|7.744000	0.85034|0.85034	2.369000|2.369000	0.80426|0.80426	0.655000|0.655000	0.94253|0.94253	GAG|TGG		0.567	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455	
TTN	7273	broad.mit.edu	37	2	179442380	179442380	+	Missense_Mutation	SNP	T	T	C			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr2:179442380T>C	ENST00000591111.1	-	273	64074	c.63850A>G	c.(63850-63852)Atc>Gtc	p.I21284V	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I13985V|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I14052V|TTN_ENST00000589042.1_Missense_Mutation_p.I22925V|TTN_ENST00000342992.6_Missense_Mutation_p.I20357V|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I13860V|TTN-AS1_ENST00000586707.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21284	Fibronectin type-III 54. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.I20355V(1)|p.I13860V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGAGCACTGATAGCACCTGCT	0.353																																																2	Substitution - Missense(2)	ovary(2)	2											132.0	118.0	123.0					2																	179442380		1889	4123	6012	179150626	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.63850A>G	2.37:g.179442380T>C	ENSP00000465570:p.Ile21284Val		179150626	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	11.91	1.778567	0.31502	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	6.02	6.02	0.97574	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.44603	0.1301	N	0.25426	0.745	0.50467	D	0.999873	B;B;B;B	0.20550	0.046;0.046;0.046;0.025	B;B;B;B	0.22152	0.038;0.038;0.038;0.026	T	0.36768	-0.9734	9	0.87932	D	0	.	16.5446	0.84426	0.0:0.0:0.0:1.0	.	13860;13985;14052;21284	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	20357;13860;14052;13985;13858	ENSP00000343764:I20357V;ENSP00000434586:I13860V;ENSP00000340554:I14052V;ENSP00000352154:I13985V	ENSP00000340554:I14052V	I	-	1	0	TTN	179150626	1.000000	0.71417	0.911000	0.35937	0.983000	0.72400	3.414000	0.52693	2.311000	0.77944	0.533000	0.62120	ATC		0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
GIGYF2	26058	broad.mit.edu	37	2	233656088	233656088	+	Missense_Mutation	SNP	C	C	T			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr2:233656088C>T	ENST00000409547.1	+	14	1525	c.1214C>T	c.(1213-1215)aCg>aTg	p.T405M	GIGYF2_ENST00000409196.3_Missense_Mutation_p.T399M|GIGYF2_ENST00000409480.1_Missense_Mutation_p.T427M|GIGYF2_ENST00000452341.2_Missense_Mutation_p.T236M|GIGYF2_ENST00000373563.4_Missense_Mutation_p.T405M|GIGYF2_ENST00000409451.3_Missense_Mutation_p.T426M|GIGYF2_ENST00000373566.3_Missense_Mutation_p.T427M	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	405					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.T405M(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		ACTGAGCAAACGGAAAAAGCT	0.453																																																1	Substitution - Missense(1)	ovary(1)	2											100.0	96.0	97.0					2																	233656088		2203	4300	6503	233364332	SO:0001583	missense	26058			U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.1214C>T	2.37:g.233656088C>T	ENSP00000386537:p.Thr405Met		233364332	A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	37	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	C	2.483	-0.319107	0.05386	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000452341	T;T;T;T;T;T;T;T;T	0.74737	-0.71;-0.71;-0.71;-0.71;-0.87;-0.71;-0.71;-0.85;-0.55	5.54	-2.08	0.07254	.	0.987220	0.08256	N	0.973822	T	0.52468	0.1736	N	0.22421	0.69	0.09310	N	1	B;P;B;P	0.38195	0.274;0.622;0.001;0.513	B;B;B;B	0.29942	0.036;0.109;0.001;0.079	T	0.39941	-0.9589	10	0.44086	T	0.13	0.3086	6.1003	0.20043	0.1271:0.3228:0.0:0.5501	.	236;426;405;399	E9PC50;A6H8W4;Q6Y7W6;E9PBB0	.;.;PERQ2_HUMAN;.	M	427;348;405;427;405;405;348;399;426;399;236	ENSP00000362667:T427M;ENSP00000362664:T405M;ENSP00000386765:T427M;ENSP00000386537:T405M;ENSP00000404195:T348M;ENSP00000387070:T399M;ENSP00000387170:T426M;ENSP00000410297:T399M;ENSP00000411505:T236M	ENSP00000362664:T405M	T	+	2	0	GIGYF2	233364332	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.341000	0.07811	-0.364000	0.08088	-0.783000	0.03347	ACG		0.453	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146	
ZBP1	81030	broad.mit.edu	37	20	56188266	56188266	+	Missense_Mutation	SNP	A	A	G			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr20:56188266A>G	ENST00000371173.3	-	5	800	c.623T>C	c.(622-624)aTt>aCt	p.I208T	ZBP1_ENST00000538947.1_5'Flank|ZBP1_ENST00000343535.4_Missense_Mutation_p.I208T|ZBP1_ENST00000340462.4_Missense_Mutation_p.I185T|ZBP1_ENST00000395822.3_Missense_Mutation_p.I133T|ZBP1_ENST00000541799.1_Missense_Mutation_p.I208T	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	208					innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)	p.I208T(1)		large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			CCCGTGTCCAATCTGGATGGC	0.522																																																1	Substitution - Missense(1)	ovary(1)	20											189.0	159.0	169.0					20																	56188266		2203	4300	6503	55621672	SO:0001583	missense	81030			AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"""DNA-dependent activator of IRFs"""	606750	"""chromosome 20 open reading frame 183"""	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.623T>C	20.37:g.56188266A>G	ENSP00000360215:p.Ile208Thr		55621672	A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Missense_Mutation	SNP	ENST00000371173.3	37	CCDS13461.1	.	.	.	.	.	.	.	.	.	.	A	15.69	2.908946	0.52439	.	.	ENSG00000124256	ENST00000371173;ENST00000395822;ENST00000340462;ENST00000357677;ENST00000343535;ENST00000541799	T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33	3.36	3.36	0.38483	.	0.000000	0.43919	D	0.000513	T	0.74458	0.3719	L	0.54323	1.7	0.33741	D	0.619381	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.999	T	0.80643	-0.1291	10	0.87932	D	0	-19.2827	8.4548	0.32893	1.0:0.0:0.0:0.0	.	208;208;133;208	F5GYT1;A2RRL9;A2A2F7;Q9H171	.;.;.;ZBP1_HUMAN	T	208;133;185;208;208;208	ENSP00000360215:I208T;ENSP00000379167:I133T;ENSP00000344954:I185T;ENSP00000340584:I208T;ENSP00000440552:I208T	ENSP00000344954:I185T	I	-	2	0	ZBP1	55621672	0.983000	0.35010	0.917000	0.36280	0.017000	0.09413	3.454000	0.52986	1.781000	0.52344	0.379000	0.24179	ATT		0.522	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079849.1	NM_030776	
CACNA1D	776	broad.mit.edu	37	3	53753780	53753780	+	Splice_Site	SNP	A	A	G			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr3:53753780A>G	ENST00000350061.5	+	11	1989		c.e11-1		CACNA1D_ENST00000422281.2_Splice_Site|CACNA1D_ENST00000288139.4_Splice_Site	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)	p.?(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCTTTCTTTCAGTCAAGCCAT	0.418																																																1	Unknown(1)	ovary(1)	3											394.0	362.0	373.0					3																	53753780		2203	4300	6503	53728820	SO:0001630	splice_region_variant	776			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.1479-1A>G	3.37:g.53753780A>G			53728820	B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Splice_Site	SNP	ENST00000350061.5	37	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.378382	0.82682	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481085;ENST00000481478	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2503	0.66016	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CACNA1D	53728820	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.913000	0.87471	1.966000	0.57179	0.533000	0.62120	.		0.418	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720	Intron
LRRC31	79782	broad.mit.edu	37	3	169578358	169578358	+	Missense_Mutation	SNP	G	G	C			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr3:169578358G>C	ENST00000316428.5	-	3	535	c.478C>G	c.(478-480)Caa>Gaa	p.Q160E	LRRC31_ENST00000264676.5_Intron|LRRC31_ENST00000523069.1_Missense_Mutation_p.Q160E|LRRC31_ENST00000397805.2_5'UTR	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	160								p.Q160E(1)		cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CCCAGTGCTTGAACATCGTCA	0.507																																																1	Substitution - Missense(1)	ovary(1)	3											166.0	158.0	161.0					3																	169578358		2025	4191	6216	171061052	SO:0001583	missense	79782			AK026912	CCDS43167.1, CCDS63832.1, CCDS63833.1	3q26.2	2005-01-24			ENSG00000114248	ENSG00000114248			26261	protein-coding gene	gene with protein product						12975309	Standard	NM_001277127		Approved	FLJ23259	uc003fgc.2	Q6UY01	OTTHUMG00000164421	ENST00000316428.5:c.478C>G	3.37:g.169578358G>C	ENSP00000325978:p.Gln160Glu		171061052	B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	Missense_Mutation	SNP	ENST00000316428.5	37	CCDS43167.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.334973	0.00227	.	.	ENSG00000114248	ENST00000316428;ENST00000523069	T;T	0.59224	0.28;0.28	5.24	-1.91	0.07641	.	1.606110	0.03984	N	0.293796	T	0.30885	0.0779	N	0.16266	0.395	0.09310	N	1	B	0.13145	0.007	B	0.12837	0.008	T	0.16660	-1.0395	10	0.05436	T	0.98	9.2294	0.6059	0.00752	0.2503:0.3153:0.1517:0.2828	.	160	Q6UY01	LRC31_HUMAN	E	160	ENSP00000325978:Q160E;ENSP00000429145:Q160E	ENSP00000325978:Q160E	Q	-	1	0	LRRC31	171061052	0.000000	0.05858	0.001000	0.08648	0.023000	0.10783	-0.108000	0.10857	-0.042000	0.13535	0.650000	0.86243	CAA		0.507	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378699.1	NM_024727	
KIAA1211	57482	broad.mit.edu	37	4	57181320	57181320	+	Missense_Mutation	SNP	C	C	G	rs555695354		TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr4:57181320C>G	ENST00000504228.1	+	6	1757	c.1652C>G	c.(1651-1653)cCc>cGc	p.P551R	KIAA1211_ENST00000264229.6_Missense_Mutation_p.P551R|KIAA1211_ENST00000541073.1_Missense_Mutation_p.P544R			Q6ZU35	K1211_HUMAN	KIAA1211	551								p.P551R(1)		endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					ATTCTCTTTCCCAAAGTCAAC	0.647																																																1	Substitution - Missense(1)	ovary(1)	4											14.0	21.0	19.0					4																	57181320		2017	4160	6177	56876077	SO:0001583	missense	57482			AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.1652C>G	4.37:g.57181320C>G	ENSP00000423366:p.Pro551Arg		56876077	Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.861805	0.71949	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.02032	4.49;4.49;4.49	4.86	4.86	0.63082	.	.	.	.	.	T	0.09423	0.0232	M	0.64997	1.995	0.41201	D	0.986375	D;D;D	0.89917	0.998;0.998;1.0	D;D;D	0.80764	0.923;0.923;0.994	T	0.02026	-1.1227	9	0.49607	T	0.09	-22.101	11.4251	0.50004	0.3138:0.6862:0.0:0.0	.	544;544;551	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	R	551;551;544;461	ENSP00000264229:P551R;ENSP00000423366:P551R;ENSP00000444006:P544R	ENSP00000264229:P551R	P	+	2	0	KIAA1211	56876077	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.295000	0.72744	2.229000	0.72834	0.561000	0.74099	CCC		0.647	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722	
ABLIM3	22885	broad.mit.edu	37	5	148596590	148596590	+	Silent	SNP	A	A	T			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr5:148596590A>T	ENST00000506113.1	+	7	1220	c.738A>T	c.(736-738)ggA>ggT	p.G246G	RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000504238.1_Silent_p.G246G|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000356541.3_Silent_p.G246G|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000326685.7_Silent_p.G246G|ABLIM3_ENST00000508983.1_Silent_p.G246G|ABLIM3_ENST00000309868.7_Silent_p.G246G			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	246	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)	p.G246G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACCGAAGGAGAGGAAATGT	0.498																																																1	Substitution - coding silent(1)	ovary(1)	5											95.0	79.0	84.0					5																	148596590		2203	4300	6503	148576783	SO:0001819	synonymous_variant	22885			AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.738A>T	5.37:g.148596590A>T			148576783	A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Silent	SNP	ENST00000506113.1	37	CCDS4294.1																																																																																				0.498	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945	
IGF2R	3482	broad.mit.edu	37	6	160510188	160510188	+	Missense_Mutation	SNP	G	G	A			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr6:160510188G>A	ENST00000356956.1	+	43	6518	c.6370G>A	c.(6370-6372)Gcc>Acc	p.A2124T		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2124					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)	p.A2124T(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	CTCCCGGGCTGCCTGCGCCGT	0.522																																																1	Substitution - Missense(1)	ovary(1)	6											65.0	58.0	60.0					6																	160510188		2203	4300	6503	160430178	SO:0001583	missense	3482			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.6370G>A	6.37:g.160510188G>A	ENSP00000349437:p.Ala2124Thr		160430178	Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	34	5.296516	0.95574	.	.	ENSG00000197081	ENST00000356956	T	0.54866	0.55	5.03	5.03	0.67393	Mannose-6-phosphate receptor, binding (1);	0.113950	0.64402	D	0.000013	T	0.70369	0.3216	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.75354	-0.3347	10	0.72032	D	0.01	-19.1973	16.9221	0.86166	0.0:0.0:1.0:0.0	.	2124	P11717	MPRI_HUMAN	T	2124	ENSP00000349437:A2124T	ENSP00000349437:A2124T	A	+	1	0	IGF2R	160430178	1.000000	0.71417	0.934000	0.37439	0.979000	0.70002	9.023000	0.93683	2.483000	0.83821	0.561000	0.74099	GCC		0.522	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876	
ELN	2006	broad.mit.edu	37	7	73469099	73469099	+	Splice_Site	SNP	G	G	A			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr7:73469099G>A	ENST00000252034.7	+	19	1549	c.1150G>A	c.(1150-1152)Ggg>Agg	p.G384R	ELN_ENST00000380575.4_Splice_Site_p.G374R|ELN_ENST00000466878.1_3'UTR|ELN_ENST00000320492.7_Splice_Site_p.G348R|ELN_ENST00000380562.4_Splice_Site_p.G384R|ELN_ENST00000357036.5_Splice_Site_p.G389R|ELN_ENST00000380576.5_Splice_Site_p.G384R|ELN_ENST00000320399.6_Splice_Site_p.G384R|ELN_ENST00000458204.1_Splice_Site_p.G374R|ELN_ENST00000380553.4_Splice_Site_p.G267R|ELN_ENST00000380584.4_Splice_Site_p.G370R|ELN_ENST00000414324.1_Splice_Site_p.G379R|ELN_ENST00000429192.1_Splice_Site_p.G389R|ELN_ENST00000358929.4_Splice_Site_p.G384R|ELN_ENST00000445912.1_Splice_Site_p.G384R	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	384	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)	p.G384R(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				AGCCAAATACGGTGAGTGCTA	0.542			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""																																Dom	yes		7	7q11.23	2006	elastin	yes	L	1	Substitution - Missense(1)	ovary(1)	7											130.0	101.0	111.0					7																	73469099		2203	4300	6503	73107035	SO:0001630	splice_region_variant	2006				CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1150+1G>A	7.37:g.73469099G>A			73107035	B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP	ENST00000252034.7	37	CCDS5562.2	.	.	.	.	.	.	.	.	.	.	g	13.09	2.133533	0.37630	.	.	ENSG00000049540	ENST00000445912;ENST00000252034;ENST00000358929;ENST00000320492;ENST00000414324;ENST00000380562;ENST00000380575;ENST00000380584;ENST00000458204;ENST00000357036;ENST00000429192;ENST00000442462;ENST00000380553;ENST00000380576;ENST00000320399	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.62788	0.13;0.08;0.15;0.0;0.96;0.11;0.96;0.98;0.18;0.09;0.88;0.92;0.91;0.04	4.04	4.04	0.47022	.	.	.	.	.	T	0.68485	0.3006	L	0.43923	1.385	0.40747	D	0.982887	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.999;0.998;0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999	T	0.63449	-0.6635	9	0.19147	T	0.46	.	11.9552	0.52976	0.0:0.0:1.0:0.0	.	384;353;348;379;374;384;374;389;389;384;267;340;370;384	E7ENM0;E9PBM4;G5E950;G3V0G6;E7EN65;P15502-1;P15502-7;P15502-12;P15502-5;P15502-13;P15502-11;B3KRT8;P15502-8;P15502-2	.;.;.;.;.;.;.;.;.;.;.;.;.;.	R	384;384;384;348;379;384;374;370;374;389;389;353;267;384;384	ENSP00000389857:G384R;ENSP00000252034:G384R;ENSP00000351807:G384R;ENSP00000315607:G348R;ENSP00000392575:G379R;ENSP00000369936:G384R;ENSP00000369949:G374R;ENSP00000369958:G370R;ENSP00000403162:G374R;ENSP00000349540:G389R;ENSP00000391129:G389R;ENSP00000369926:G267R;ENSP00000369950:G384R;ENSP00000313565:G384R	ENSP00000252034:G384R	G	+	1	0	ELN	73107035	0.998000	0.40836	0.939000	0.37840	0.445000	0.32107	4.050000	0.57404	2.272000	0.75746	0.479000	0.44913	GGG		0.542	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501	Missense_Mutation
MUC17	140453	broad.mit.edu	37	7	100685237	100685237	+	Nonsense_Mutation	SNP	G	G	T			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr7:100685237G>T	ENST00000306151.4	+	3	10604	c.10540G>T	c.(10540-10542)Gaa>Taa	p.E3514*		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3514	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.E3514*(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTGCTGGTGAAGGAAGCAC	0.488																																																1	Substitution - Nonsense(1)	ovary(1)	7											233.0	246.0	241.0					7																	100685237		2203	4300	6503	100471957	SO:0001587	stop_gained	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.10540G>T	7.37:g.100685237G>T	ENSP00000302716:p.Glu3514*		100471957	O14761|Q685J2|Q8TDH7	Nonsense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	49	15.970991	0.99850	.	.	ENSG00000169876	ENST00000306151	.	.	.	1.37	0.376	0.16193	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	5.5844	0.17267	0.2095:0.0:0.7905:0.0	.	.	.	.	X	3514	.	ENSP00000302716:E3514X	E	+	1	0	MUC17	100471957	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.575000	0.23729	-0.109000	0.12044	0.186000	0.17326	GAA		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
MPDZ	8777	broad.mit.edu	37	9	13206068	13206068	+	Missense_Mutation	SNP	T	T	C			TCGA-25-2399-01A-01W-0799-08	TCGA-25-2399-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	81db8053-94a3-4b15-ab83-ff16a77c7352	e6de10f2-fd09-4157-9cae-ce5b123cd448	g.chr9:13206068T>C	ENST00000319217.7	-	11	1568	c.1321A>G	c.(1321-1323)Aat>Gat	p.N441D	MPDZ_ENST00000381022.2_Missense_Mutation_p.N441D|MPDZ_ENST00000541718.1_Missense_Mutation_p.N441D|MPDZ_ENST00000536827.1_Missense_Mutation_p.N441D|MPDZ_ENST00000381015.4_Missense_Mutation_p.N441D|MPDZ_ENST00000447879.1_Missense_Mutation_p.N441D|MPDZ_ENST00000546205.1_Missense_Mutation_p.N441D	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	441	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)	p.N441D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GCTTGCTGATTAGTAAAACCC	0.383																																																1	Substitution - Missense(1)	ovary(1)	9											134.0	118.0	123.0					9																	13206068		1892	4127	6019	13196068	SO:0001583	missense	8777			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.1321A>G	9.37:g.13206068T>C	ENSP00000320006:p.Asn441Asp		13196068	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37		.	.	.	.	.	.	.	.	.	.	T	26.0	4.699284	0.88830	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11;1.11;1.11	6.17	6.17	0.99709	.	0.000000	0.47455	D	0.000237	T	0.66268	0.2772	M	0.77616	2.38	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.67597	-0.5630	10	0.49607	T	0.09	.	15.8048	0.78491	0.0:0.0:0.0:1.0	.	441;441;441	B7ZMI4;O75970-3;O75970-2	.;.;.	D	441	ENSP00000320006:N441D;ENSP00000439807:N441D;ENSP00000370410:N441D;ENSP00000444151:N441D;ENSP00000415208:N441D;ENSP00000370403:N441D;ENSP00000446358:N441D	ENSP00000320006:N441D	N	-	1	0	MPDZ	13196068	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	5.963000	0.70372	2.371000	0.80710	0.533000	0.62120	AAT		0.383	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829	
